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 FRMD7 90167 broad.mit.edu 37 X 131219961 131219961 + Missense_Mutation SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chrX:131219961G>A ENST00000298542.4 - 6 659 c.484C>T c.(484-486)Cat>Tat p.H162Y FRMD7_ENST00000370879.1_Missense_Mutation_p.H42Y|FRMD7_ENST00000464296.1_Missense_Mutation_p.H147Y NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 162 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding p.H162Y(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TGCTTCTGATGAAAGTGCATG 0.443000 73 88 0 0 0.870114 0 0 KCNT1 57582 broad.mit.edu 37 9 138651633 138651633 + Silent SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr9:138651633G>A ENST00000298480.5 + 11 1037 c.963G>A c.(961-963)acG>acA p.T321T KCNT1_ENST00000263604.3_Silent_p.T302T|KCNT1_ENST00000371757.2_Silent_p.T321T|KCNT1_ENST00000491806.2_Silent_p.T288T|KCNT1_ENST00000490355.2_Silent_p.T302T|KCNT1_ENST00000488444.2_Silent_p.T302T|KCNT1_ENST00000487664.1_Silent_p.T276T|KCNT1_ENST00000486577.2_Silent_p.T282T B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 321 membrane binding|calcium-activated potassium channel activity p.T321T(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GTGACGTCACGCCCAAGATCT 0.642000 26 63 0 0 0.681144 0 0 TRAV18 0 broad.mit.edu 37 14 22471681 22471681 + RNA SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr14:22471681G>A ENST00000390446.3 + 0 209 CTCCCTGAGAGGGCAGCTCTG 0.453000 9 134 0 0 0.335167 0 0 ZAN 7455 broad.mit.edu 37 7 100348486 100348486 + RNA SNP C C A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr7:100348486C>A ENST00000542585.1 + 0 1636 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.V496V(3) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACACCTCCGTCACCGTCCCCT 0.642000 7 41 0.00307968 0.00355348 0.278610 1 0 C12orf63 0 broad.mit.edu 37 12 97137249 97137249 + Missense_Mutation SNP C C T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr12:97137249C>T ENST00000524981.3 + 20 2642 c.2642C>T c.(2641-2643)aCg>aTg p.T881M Q6ZTY8 CL063_HUMAN 855 p.T855M(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GCAGGGGACACGGAACTGCAG 0.413000 10 106 0 0 0.335167 0 0 OTUD4 54726 broad.mit.edu 37 4 146058804 146058804 + Missense_Mutation SNP C C A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr4:146058804C>A ENST00000454497.2 - 21 3065 c.2928G>T c.(2926-2928)caG>caT p.Q976H OTUD4_ENST00000447906.2_Missense_Mutation_p.Q1041H|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 1040 protein binding p.Q976H(1)|p.Q975H(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GATTATAGAACTGCTTGGATC 0.413000 47 384 6.1207e-33 7.65087e-33 0.864702 1 0 NFYC 4802 broad.mit.edu 37 1 41218877 41218877 + Missense_Mutation SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr1:41218877G>A ENST00000372652.1 + 5 614 c.346G>A c.(346-348)Gat>Aat p.D116N NFYC_ENST00000372654.1_Missense_Mutation_p.D116N|NFYC_ENST00000427410.2_Missense_Mutation_p.D78N|NFYC_ENST00000308733.5_Missense_Mutation_p.D116N|NFYC_ENST00000372653.1_Missense_Mutation_p.D116N|NFYC_ENST00000447388.3_Missense_Mutation_p.D116N|NFYC_ENST00000425457.2_Missense_Mutation_p.D116N|NFYC_ENST00000456393.2_Missense_Mutation_p.D116N|NFYC_ENST00000372651.1_Missense_Mutation_p.D116N|NFYC_ENST00000440226.3_Missense_Mutation_p.D116N Q13952 NFYC_HUMAN nuclear transcription factor Y, gamma 116 protein folding|regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.D116N(1) NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.72e-17) TTTTCTCATCGATATTGTTCC 0.423000 19 69 0 0 0.539581 0 0 SYNE1 23345 broad.mit.edu 37 6 152558076 152558076 + Missense_Mutation SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr6:152558076G>A ENST00000367255.5 - 109 20676 c.20075C>T c.(20074-20076)tCc>tTc p.S6692F SYNE1_ENST00000341594.5_Missense_Mutation_p.S6304F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6621F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6692F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1216F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6621F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6692 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.S6692F(3) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATCCAGATGGGACCACGTCTA 0.522000 HNSCC(10;0.0054) 6 70 0 0 0.248553 0 0 EPHB1 2047 broad.mit.edu 37 3 134911533 134911533 + Silent SNP G G C TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr3:134911533G>C ENST00000398015.3 + 11 2368 c.1998G>C c.(1996-1998)ctG>ctC p.L666L EPHB1_ENST00000493838.1_Silent_p.L227L NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 666 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GGGACTTTCTGAGTGAGGCGA 0.547000 4 49 0 0 0.150653 0 0 TTN 7273 broad.mit.edu 37 2 179604912 179604912 + Missense_Mutation SNP C C G TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr2:179604912C>G ENST00000589042.1 - 48 13272 c.13048G>C c.(13048-13050)Gtg>Ctg p.V4350L TTN_ENST00000460472.2_Missense_Mutation_p.V3987L|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4179L|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V4033L|TTN_ENST00000359218.5_Missense_Mutation_p.V4112L|TTN-AS1_ENST00000582847.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4033 Ig-like 23. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V4112L(1)|p.V3987L(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGGGCATCACCACGTTGTCA 0.458000 16 137 0 0 0.479597 0 0 CARS2 79587 broad.mit.edu 37 13 111294811 111294811 + Missense_Mutation SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr13:111294811G>A ENST00000257347.4 - 14 1537 c.1474C>T c.(1474-1476)Cgg>Tgg p.R492W NM_024537.2 NP_078813.1 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial (putative) 492 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding p.R492W(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) TGCCGGAACCGCACCAGCTCG 0.672000 3 16 0 0 0.115264 0 0 ANKRD12 23253 broad.mit.edu 37 18 9221994 9221994 + Missense_Mutation SNP A A G TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr18:9221994A>G ENST00000383440.2 + 7 1128 c.871A>G c.(871-873)Aca>Gca p.T291A ANKRD12_ENST00000262126.3_Missense_Mutation_p.T314A|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000400020.3_Missense_Mutation_p.T291A NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 314 nucleus p.T314A(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 TGAAAGTTACACAGGTTTGTT 0.348000 10 113 0 0 0.387290 0 0 CHSY1 22856 broad.mit.edu 37 15 101718218 101718218 + Missense_Mutation SNP G G T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr15:101718218G>T ENST00000254190.3 - 3 2259 c.1784C>A c.(1783-1785)cCt>cAt p.P595H CHSY1_ENST00000543813.1_5'UTR NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 595 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GTCGGCTTTAGGGTACTTAAT 0.458000 4 104 0.150653 0.164349 0.150653 1 0 SLC4A9 83697 broad.mit.edu 37 5 139744179 139744179 + Silent SNP C C T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr5:139744179C>T ENST00000230993.6 + 11 1727 c.1692C>T c.(1690-1692)taC>taT p.Y564Y SLC4A9_ENST00000507527.1_Silent_p.Y564Y|SLC4A9_ENST00000506545.1_Silent_p.Y540Y|SLC4A9_ENST00000432095.2_Silent_p.Y529Y|SLC4A9_ENST00000506757.2_Silent_p.Y540Y NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 564 Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity p.Y564Y(2)|p.Y538Y(1)|p.Y540Y(1) endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCTGCCTACGGGTGCCTCT 0.562000 5 15 0 0 0.217242 0 0 OR2AE1 81392 broad.mit.edu 37 7 99474292 99474292 + Missense_Mutation SNP C C T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr7:99474292C>T ENST00000316368.2 - 1 388 c.365G>A c.(364-366)cGc>cAc p.R122H NM_001005276.1 NP_001005276.1 Q8NHA4 O2AE1_HUMAN olfactory receptor, family 2, subfamily AE, member 1 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122H(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2) 11 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) GGCAACATAGCGGTCATAGGA 0.488000 30 82 0 0 0.706142 0 0 CTNNA2 1496 broad.mit.edu 37 2 80874843 80874843 + Missense_Mutation SNP T T A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr2:80874843T>A ENST00000466387.1 + 22 3288 c.2564T>A c.(2563-2565)gTt>gAt p.V855D CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889D|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855D|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810D|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855D|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534D|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V903D P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 903 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AACTCACCTGTTGTGTCTTGG 0.473000 6 276 0 0 0.217242 0 0 CENPI 2491 broad.mit.edu 37 X 100364926 100364926 + Missense_Mutation SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chrX:100364926G>A ENST00000372927.1 + 5 807 c.530G>A c.(529-531)cGt>cAt p.R177H CENPI_ENST00000218507.5_Missense_Mutation_p.R177H|CENPI_ENST00000423383.1_Missense_Mutation_p.R177H|CENPI_ENST00000372926.1_Missense_Mutation_p.R177H NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 177 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding p.R177H(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 TTCATTGATCGTAAGGAGCAA 0.338000 33 26 0 0 0.779181 0 0 TCEB3 6924 broad.mit.edu 37 1 24083516 24083516 + Nonsense_Mutation SNP G G T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr1:24083516G>T ENST00000418390.2 + 10 2507 c.2236G>T c.(2236-2238)Gag>Tag p.E746* NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 746 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) CCCCAGCCCTGAGGAGCCGGC 0.577000 11 205 1.3612e-06 1.60142e-06 0.479597 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 4 105 0 0 0.184627 0 0 TTN 7273 broad.mit.edu 37 2 179406214 179406214 + Missense_Mutation SNP T T A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr2:179406214T>A ENST00000589042.1 - 350 97814 c.97590A>T c.(97588-97590)caA>caT p.Q32530H TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q23465H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q29962H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q23657H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q30889H|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q23590H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30889 Ig-like 143. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.Q23465H(2)|p.Q23657H(1)|p.Q29960H(1)|p.Q29962H(1)|p.Q23590H(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCCAGTCACTTGGGAGCCAC 0.498000 11 30 0 0 0.411799 0 0 LCT 3938 broad.mit.edu 37 2 136567431 136567431 + Missense_Mutation SNP C C A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr2:136567431C>A ENST00000264162.2 - 8 2496 c.2486G>T c.(2485-2487)aGg>aTg p.R829M NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 829 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CCTGGGAGTCCTTGACTTGCT 0.493000 5 302 0.184627 0.194345 0.184627 1 0 DOPEY2 9980 broad.mit.edu 37 21 37586800 37586800 + Missense_Mutation SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr21:37586800G>A ENST00000399151.3 + 9 1160 c.1075G>A c.(1075-1077)Gca>Aca p.A359T NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 359 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane p.A359T(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 ACGCCATCATGCATACCTGAA 0.393000 9 70 0 0 0.335167 0 0 SIX1 6495 broad.mit.edu 37 14 61115426 61115426 + Missense_Mutation SNP G G C TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr14:61115426G>C ENST00000247182.6 - 1 754 c.482C>G c.(481-483)aCc>aGc p.T161S SIX1_ENST00000554986.1_Intron NM_005982.3 NP_005973.1 Q15475 SIX1_HUMAN SIX homeobox 1 161 branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development nucleolus|transcription factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0201) GGTGAGGCCGGTGGCCTCGGC 0.647000 6 78 0 0 0.217242 0 0 MOCOS 55034 broad.mit.edu 37 18 33836994 33836994 + Missense_Mutation SNP A A T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr18:33836994A>T ENST00000261326.5 + 12 2249 c.2228A>T c.(2227-2229)aAc>aTc p.N743I MOCOS_ENST00000588132.1_3'UTR NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 743 MOSC. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding p.N743I(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) CTGCTGATCAACACATCCAGT 0.453000 57 179 0 0 0.870114 0 0 KIF26B 55083 broad.mit.edu 37 1 245849237 245849237 + Silent SNP C C A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr1:245849237C>A ENST00000366518.4 + 9 1913 c.1809C>A c.(1807-1809)tcC>tcA p.S603S KIF26B_ENST00000407071.2_Silent_p.S984S Q2KJY2 KI26B_HUMAN kinesin family member 26B 984 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.S984S(2) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) ATAATGGGTCCGAAGGTCAGC 0.622000 4 25 0.150653 0.164349 0.150653 1 0 COL6A1 1291 broad.mit.edu 37 21 47421898 47421898 + Silent SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr21:47421898G>A ENST00000361866.3 + 31 2094 c.1980G>A c.(1978-1980)gcG>gcA p.A660A COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 660 C-terminal globular domain.|VWFA 2. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding p.A660A(2) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) AGTCGTACGCGGGTGTGGTGC 0.652000 5 19 0 0 0.217242 0 0 WNK3 65267 broad.mit.edu 37 X 54359994 54359994 + Missense_Mutation SNP C C T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chrX:54359994C>T ENST00000354646.2 - 2 551 c.113G>A c.(112-114)aGa>aAa p.R38K WNK3_ENST00000375169.3_Missense_Mutation_p.R38K|WNK3_ENST00000375159.2_Missense_Mutation_p.R38K NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 38 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity p.R38K(2) autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 CTCCTTTAGTCTAGCTTCTAC 0.428000 8 125 0 0 0.335167 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 5 103 0 0 0.184627 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814510 106814510 + Missense_Mutation SNP C C T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr8:106814510C>T ENST00000407775.2 + 8 2450 c.2200C>T c.(2200-2202)Cgc>Tgc p.R734C RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R465C|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R602C|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R602C|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 734 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GAGAACCATGCGCACACGCAA 0.507000 4 63 0 0 0.184627 0 0 ADAM23 8745 broad.mit.edu 37 2 207425911 207425911 + Missense_Mutation SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr2:207425911G>A ENST00000264377.3 + 12 1557 c.1229G>A c.(1228-1230)cGc>cAc p.R410H ADAM23_ENST00000374415.3_Missense_Mutation_p.R410H|ADAM23_ENST00000374416.1_Missense_Mutation_p.R410H NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 410 Peptidase M12B. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.R410H(2) NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) GTCTGTTCTCGCACAAGAGGA 0.413000 25 65 0 0 0.654019 0 0 GJB4 127534 broad.mit.edu 37 1 35227163 35227163 + Missense_Mutation SNP G G A rs148723189 by1000genomes TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr1:35227163G>A ENST00000339480.1 + 2 678 c.308G>A c.(307-309)cGc>cAc p.R103H RP1-34M23.5_ENST00000542839.1_RNA NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 103 R -> C (may be associated with deafness; dbSNP:rs9426009). cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GAACGCGAGCGCAAGCACCAC 0.647000 4 72 0 0 0.184627 0 0 LSP1 4046 broad.mit.edu 37 11 1904667 1904667 + Silent SNP C C T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr11:1904667C>T ENST00000406638.2 + 4 1491 c.189C>T c.(187-189)taC>taT p.Y63Y LSP1_ENST00000311604.3_Silent_p.Y125Y|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Silent_p.Y253Y|LSP1_ENST00000405957.2_Silent_p.Y63Y NM_001013254.1|NM_001013255.1 NP_001013272.1|NP_001013273.1 P33241 LSP1_HUMAN lymphocyte-specific protein 1 125 cellular component movement|cellular defense response actin cytoskeleton|Golgi apparatus|plasma membrane actin binding|signal transducer activity p.Y63Y(1)|p.Y125Y(1) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) TGCATGCCTACGAAAAGGAGG 0.587000 19 70 0 0 0.575678 0 0 TSPAN9 10867 broad.mit.edu 37 12 3390977 3390977 + Silent SNP C C T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr12:3390977C>T ENST00000011898.5 + 8 803 c.642C>T c.(640-642)atC>atT p.I214I TSPAN9_ENST00000407263.1_Silent_p.I214I|TSPAN9_ENST00000537971.1_Silent_p.I214I NM_006675.4 NP_006666.1 O75954 TSN9_HUMAN tetraspanin 9 214 integral to plasma membrane|membrane fraction p.I214I(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831) GCATCCTCATCATGCAGGTAA 0.587000 16 24 0 0 0.520397 0 0 CTSC 1075 broad.mit.edu 37 11 88068245 88068245 + Missense_Mutation SNP G G C TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr11:88068245G>C ENST00000524463.1 - 2 266 c.178C>G c.(178-180)Caa>Gaa p.Q60E CTSC_ENST00000227266.5_Missense_Mutation_p.Q60E|CTSC_ENST00000529974.1_Missense_Mutation_p.Q60E|CTSC_ENST00000393301.4_5'UTR NM_001114173.1|NM_148170.3 NP_001107645.1|NP_680475.1 P53634 CATC_HUMAN cathepsin C 60 immune response lysosome cysteine-type endopeptidase activity p.Q60E(1) large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTTTTTTCTTGTGGTCCTAAA 0.353000 10 81 0 0 0.361761 0 0 SPTBN4 57731 broad.mit.edu 37 19 41062020 41062020 + Silent SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr19:41062020G>A ENST00000352632.3 + 25 5201 c.5115G>A c.(5113-5115)gtG>gtA p.V1705V SPTBN4_ENST00000338932.3_Silent_p.V1705V|SPTBN4_ENST00000392023.1_Silent_p.V381V|SPTBN4_ENST00000598249.1_Silent_p.V1705V|SPTBN4_ENST00000392025.1_Silent_p.V448V|SPTBN4_ENST00000595535.1_Silent_p.V1705V Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1705 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton p.V1705V(1) breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGTCTCAGGTGGACCGCCTGT 0.662000 6 53 0 0 0.248553 0 0 CTNNA2 1496 broad.mit.edu 37 2 80874842 80874842 + Missense_Mutation SNP G G C TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr2:80874842G>C ENST00000466387.1 + 22 3287 c.2563G>C c.(2563-2565)Gtt>Ctt p.V855L CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V903L P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 903 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CAACTCACCTGTTGTGTCTTG 0.473000 6 277 0 0 0.217242 0 0 SIRPA 140885 broad.mit.edu 37 20 1902292 1902292 + Missense_Mutation SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr20:1902292G>A ENST00000358771.4 + 3 840 c.688G>A c.(688-690)Gtg>Atg p.V230M SIRPA_ENST00000356025.3_Missense_Mutation_p.V230M|SIRPA_ENST00000400068.3_Missense_Mutation_p.V230M NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 230 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.V230M(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) CATCTGCGAGGTGGCCCACGT 0.612000 4 95 0 0 0.150653 0 0 SIRPA 140885 broad.mit.edu 37 20 1902301 1902301 + Missense_Mutation SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr20:1902301G>A ENST00000358771.4 + 3 849 c.697G>A c.(697-699)Gtc>Atc p.V233I SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I|SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 233 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.V233I(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GGTGGCCCACGTCACCTTGCA 0.617000 5 100 0 0 0.217242 0 0 MPP2 4355 broad.mit.edu 37 17 41956753 41956753 + Missense_Mutation SNP T T C TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr17:41956753T>C ENST00000269095.4 - 12 1676 c.1372A>G c.(1372-1374)Acg>Gcg p.T458A MPP2_ENST00000518766.1_Missense_Mutation_p.T503A|MPP2_ENST00000461854.1_Missense_Mutation_p.T482A|MPP2_ENST00000377184.3_Missense_Mutation_p.T475A|MPP2_ENST00000536246.1_Missense_Mutation_p.T447A|MPP2_ENST00000523501.1_Missense_Mutation_p.T447A|MPP2_ENST00000520305.1_Missense_Mutation_p.T319A NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 482 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) AACTCGGCCGTTCGTAGCACC 0.572000 7 123 0 0 0.307466 0 0 BDP1 55814 broad.mit.edu 37 5 70751835 70751835 + Missense_Mutation SNP C C A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr5:70751835C>A ENST00000358731.4 + 1 394 c.131C>A c.(130-132)gCt>gAt p.A44D BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 44 Interaction with ZBTB43. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) ACGGACTCTGCTTCCAAGCCC 0.642000 5 48 0.184627 0.194345 0.184627 1 0 CENPP 401541 broad.mit.edu 37 9 95108042 95108042 + Missense_Mutation SNP G G T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr9:95108042G>T ENST00000375587.3 + 4 955 c.440G>T c.(439-441)tGc>tTc p.C147F NM_001012267.1 NP_001012267.1 Q6IPU0 CENPP_HUMAN centromere protein P 147 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm p.C147F(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1) 16 CCCACAGAATGCTCAGAATTA 0.289000 16 56 0.006122 0.00693057 0.539581 1 0 PSMD6 9861 broad.mit.edu 37 3 63996409 63996409 + Missense_Mutation SNP T T G TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr3:63996409T>G ENST00000492933.1 - 9 1316 c.1264A>C c.(1264-1266)Act>Cct p.T422P PSMD6_ENST00000295901.4_Missense_Mutation_p.T369P|PSMD6_ENST00000394431.2_Missense_Mutation_p.T331P|PSMD6-AS2_ENST00000472046.1_RNA|PSMD6_ENST00000482510.1_Missense_Mutation_p.T330P NM_001271779.1 NP_001258708.1 Q15008 PSMD6_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 369 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex ATPase activity|protein binding p.T369P(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1) 13 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212) TTCTTGATAGTTTCTTGGTAC 0.318000 12 84 0 0 0.435327 0 0 DNM1P47 0 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 4 8 0 0 0.335167 0 0 DLEC1 9940 broad.mit.edu 37 3 38135139 38135139 + Silent SNP T T C TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr3:38135139T>C ENST00000308059.6 + 12 1821 c.1800T>C c.(1798-1800)ggT>ggC p.G600G DLEC1_ENST00000346219.3_Silent_p.G600G|DLEC1_ENST00000452631.2_Silent_p.G600G Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 600 negative regulation of cell proliferation cytoplasm p.G600G(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) ATATTTCTGGTGAAAAAAGCC 0.493000 28 93 0 0 0.693898 0 0 SCN7A 6332 broad.mit.edu 37 2 167262940 167262940 + Missense_Mutation SNP T T C TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr2:167262940T>C ENST00000409855.1 - 25 4325 c.4199A>G c.(4198-4200)tAt>tGt p.Y1400C NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1400 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.Y1400C(3) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 GGCAAAATTATACATTCCAAA 0.353000 22 151 0 0 0.608945 0 0 HDAC11 79885 broad.mit.edu 37 3 13542247 13542247 + Missense_Mutation SNP C C T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr3:13542247C>T ENST00000433119.1 + 5 795 c.320C>T c.(319-321)gCg>gTg p.A107V HDAC11_ENST00000295757.3_Silent_p.G149G|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000437379.2_Silent_p.G121G|HDAC11_ENST00000522202.1_Silent_p.G98G|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000495099.2_Intron Q96DB2 HDA11_HUMAN histone deacetylase 11 0 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding p.G149G(2) breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3) 13 GCGACCGTGGCGGGGGCTTCT 0.647000 OREG0015412 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 7 0 0 0.150653 0 0 SYNE2 23224 broad.mit.edu 37 14 64580250 64580250 + Silent SNP C C T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr14:64580250C>T ENST00000357395.3 + 67 13100 c.1956C>T c.(1954-1956)gaC>gaT p.D652D SYNE2_ENST00000554584.1_Silent_p.D4282D|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.D652D|SYNE2_ENST00000358025.3_Silent_p.D4267D|SYNE2_ENST00000555002.1_Silent_p.D901D|SYNE2_ENST00000344113.4_Silent_p.D4267D Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4267 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding p.D4267D(1) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TAAACGCAGACATGCAGCAGG 0.557000 11 19 0 0 0.361761 0 0 CCDC105 126402 broad.mit.edu 37 19 15132676 15132676 + Missense_Mutation SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr19:15132676G>A ENST00000292574.3 + 6 1278 c.1196G>A c.(1195-1197)cGc>cAc p.R399H NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 399 microtubule cytoskeleton organization microtubule p.R399H(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 CCCCTGGTTCGCATGTACCAG 0.642000 35 88 0 0 0.769981 0 0 TMEM167B 56900 broad.mit.edu 37 1 109637041 109637041 + Missense_Mutation SNP G G T TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr1:109637041G>T ENST00000338272.7 + 3 283 c.145G>T c.(145-147)Gct>Tct p.A49S NM_020141.3 NP_064526.1 Q9NRX6 KISHB_HUMAN transmembrane protein 167B 49 Golgi membrane|integral to membrane p.A49S(1) endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1) 7 CCTGCTAGCCGCTGTGATTGG 0.448000 16 114 9.16793e-09 1.1226e-08 0.520397 1 0 CSMD2 114784 broad.mit.edu 37 1 34102104 34102104 + Translation_Start_Site SNP G G A TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr1:34102104G>A ENST00000373388.2 - 0 1664 CSMD2_ENST00000373381.4_Missense_Mutation_p.R1609W|CSMD2_ENST00000373380.1_Missense_Mutation_p.R482W Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 integral to membrane|plasma membrane protein binding p.R1569W(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GACCCCACCCGTGTGCCGTTC 0.582000 8 80 0 0 0.307466 0 0 SEC22B 9554 broad.mit.edu 37 1 145109975 145109976 + RNA INS - - C rs67257307 TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr1:145109975_145109976insC ENST00000453618.1 + 0 673 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CAGGAACTTTGCTAAAGATCTA 0.386 6 7 --- --- --- --- HEXB 3074 broad.mit.edu 37 5 74016258 74016259 + In_Frame_Ins INS - - AGA TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr5:74016258_74016259insAGA ENST00000511181.1 + 12 1660_1661 c.748_749insAGA c.(748-750)gaa>AGAgaa p.249_250insR HEXB_ENST00000261416.7_In_Frame_Ins_p.474_475insR|HEXB_ENST00000509579.1_5'UTR|HEXB_ENST00000513539.1_3'UTR P07686 HEXB_HUMAN hexosaminidase B (beta polypeptide) 474 cell death lysosome cation binding|protein heterodimerization activity|protein homodimerization activity endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.72e-57) TTTAGGTACTCAGAAACAGAAA 0.361 20 74 --- --- --- --- HLA-V 0 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 3 6 --- --- --- --- OVCH2 341277 broad.mit.edu 37 11 7720159 7720160 + RNA INS - - T rs71470493 by1000genomes TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr11:7720159_7720160insT ENST00000454689.1 - 0 925 OVCH2_ENST00000534193.1_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) GGCATAATGGCTGTAGGTGCTC 0.475 5 6 --- --- --- --- RP11-726G1.1 0 broad.mit.edu 37 12 9725801 9725801 + RNA DEL T T - TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr12:9725801delT ENST00000520314.1 + 0 6372 AGAATTCTTCTTCAACATTCA 0.323 2 4 --- --- --- --- LINC00669 0 broad.mit.edu 37 18 37091893 37091895 + RNA DEL AAG AAG - TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr18:37091893_37091895delAAG ENST00000591629.1 - 0 440 NR_024391.1 gaagaggaacaagaagaagaaga 0.473 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11042391 11042393 + RNA DEL CAA CAA - rs76695243 TCGA-CH-5766-01A-11D-1576-08 TCGA-CH-5766-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4a89263-a535-44dc-b2d4-86405c5a3191 8190fde9-3acf-40d4-90c8-2344c571c55e g.chr21:11042391_11042393delCAA ENST00000470054.1 - 0 774 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) acacacaccccaaaaaaaaaaaa 0.419 3 3 --- --- --- ---