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 TACC2 10579 broad.mit.edu 37 10 123989891 123989891 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr10:123989891G>A ENST00000369005.1 + 16 8403 c.8063G>A c.(8062-8064)cGg>cAg p.R2688Q TACC2_ENST00000369004.3_Intron|TACC2_ENST00000513429.1_Missense_Mutation_p.R834Q|TACC2_ENST00000358010.1_Missense_Mutation_p.R834Q|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R2688Q|TACC2_ENST00000368999.1_Missense_Mutation_p.R778Q|TACC2_ENST00000360561.3_Intron|TACC2_ENST00000260733.3_Missense_Mutation_p.R766Q|TACC2_ENST00000515273.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2688 microtubule organizing center|nucleus nuclear hormone receptor binding p.R2688Q(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GCCATCATGCGGATAGAAGCC 0.567000 35 93 0 0 0.788014 0 0 IGHV1-46 28465 broad.mit.edu 37 14 106967517 106967517 + RNA SNP G G C TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr14:106967517G>C ENST00000390622.2 - 0 271 GGCTTCTGTAGAGAAGGGATG 0.468000 19 31 0 0 0.539581 0 0 SLC4A7 9497 broad.mit.edu 37 3 27431585 27431585 + Missense_Mutation SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr3:27431585C>T ENST00000295736.5 - 22 3240 c.3170G>A c.(3169-3171)cGt>cAt p.R1057H SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1053H|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R938H|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R942H|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1053H|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R607H|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R933H|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R1049H|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1066H|SLC4A7_ENST00000437179.1_Missense_Mutation_p.R938H NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 1057 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 TAATTTTATACGGTCAAATAA 0.328000 4 163 0 0 0.217242 0 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 3 31 0 0 0.150653 0 0 DNAH2 146754 broad.mit.edu 37 17 7668743 7668743 + Nonsense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr17:7668743G>A ENST00000572933.1 + 21 4831 c.3371G>A c.(3370-3372)tGg>tAg p.W1124* DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W1124* Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1124 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AACGGGGAGTGGGTTGTCTTC 0.537000 28 74 0 0 0.693898 0 0 RPP25L 138716 broad.mit.edu 37 9 34610878 34610878 + Missense_Mutation SNP G G C TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr9:34610878G>C ENST00000297613.4 - 2 696 c.416C>G c.(415-417)cCc>cGc p.P139R RPP25L_ENST00000378959.4_Missense_Mutation_p.P139R NM_148179.2 NP_680545.1 Q8N5L8 CI023_HUMAN ribonuclease P/MRP 25kDa subunit-like 139 nucleic acid binding CAGGCCAGGGGGTGCTCCTGG 0.657000 26 65 0 0 0.729181 0 0 ASH2L 9070 broad.mit.edu 37 8 37986388 37986388 + Silent SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr8:37986388G>A ENST00000343823.6 + 12 1755 c.1446G>A c.(1444-1446)caG>caA p.Q482Q ASH2L_ENST00000545394.1_Silent_p.Q343Q|ASH2L_ENST00000521652.1_Silent_p.Q388Q|ASH2L_ENST00000428278.2_Silent_p.Q388Q|ASH2L_ENST00000250635.7_Silent_p.Q388Q NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) 482 B30.2/SPRY. hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) GCTATGGACAGGGAGACGTCC 0.443000 108 487 0 0 0.870114 0 0 SLC24A2 25769 broad.mit.edu 37 9 19619581 19619581 + Splice_Site SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr9:19619581C>T ENST00000341998.2 - 3 1140 c.e3+1 SLC24A2_ENST00000286344.3_Splice_Site NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) TTGATGTTTACCTTCGGCGAG 0.512000 46 155 0 0 0.870114 0 0 TBC1D9 23158 broad.mit.edu 37 4 141583131 141583131 + Silent SNP A A T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr4:141583131A>T ENST00000442267.2 - 10 1793 c.1719T>A c.(1717-1719)gcT>gcA p.A573A NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 573 Rab-GAP TBC. intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) CATTCTGAAAAGCTGGGTGTT 0.468000 24 58 0 0 0.693898 0 0 OTOGL 283310 broad.mit.edu 37 12 80726828 80726828 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr12:80726828G>A ENST00000458043.2 + 37 4371 c.4365G>A c.(4363-4365)atG>atA p.M1455I OTOGL_ENST00000547103.1_Missense_Mutation_p.M1443I NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TGTTTGATATGCTAACACCAA 0.363000 8 21 0 0 0.278610 0 0 KPRP 448834 broad.mit.edu 37 1 152732235 152732235 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr1:152732235C>T ENST00000368773.1 + 2 229 c.171C>T c.(169-171)tgC>tgT p.C57C KPRP_ENST00000606109.1_Silent_p.C57C NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 57 Gln-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTCAAGTTTGCCAGGTGTCAG 0.547000 30 79 0 0 0.717897 0 0 SP140L 93349 broad.mit.edu 37 2 231223763 231223763 + Missense_Mutation SNP C C A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr2:231223763C>A ENST00000243810.6 + 4 355 c.355C>A c.(355-357)Ctg>Atg p.L119M SP140L_ENST00000444636.1_Missense_Mutation_p.L119M|SP140L_ENST00000396563.4_Missense_Mutation_p.L119M|SP140L_ENST00000458341.1_Missense_Mutation_p.L32M|SP140L_ENST00000415673.2_Missense_Mutation_p.L119M Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 119 HSR. nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 GACATTTAACCTGTCAGTTTT 0.358000 4 161 0.014758 0.0153405 0.184627 1 0 GPR98 84059 broad.mit.edu 37 5 89943471 89943471 + Missense_Mutation SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr5:89943471C>T ENST00000405460.2 + 17 3275 c.3179C>T c.(3178-3180)aCg>aTg p.T1060M NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1060 Calx-beta 8. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AAAGGAGAAACGCTCATTTTT 0.413000 33 139 0 0 0.779181 0 0 CCM2L 140706 broad.mit.edu 37 20 30617557 30617557 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr20:30617557G>A ENST00000300415.8 + 9 1331 c.1318G>A c.(1318-1320)Gag>Aag p.E440K CCM2L_ENST00000262659.8_Silent_p.G418G|RP1-310O13.7_ENST00000449519.1_RNA cerebral cavernous malformation 2-like GCTGCTGCGGGAGTACCGGCT 0.617000 11 54 0 0 0.479597 0 0 PCDH8 5100 broad.mit.edu 37 13 53420242 53420242 + Missense_Mutation SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr13:53420242C>T ENST00000377942.3 - 1 2533 c.2330G>A c.(2329-2331)cGc>cAc p.R777H PCDH8_ENST00000338862.4_Missense_Mutation_p.R777H NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 777 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CTCCTTCTTGCGGCGGTTGCA 0.741000 15 17 0 0 0.608945 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 48 0 0 0.217242 0 0 KIF1A 547 broad.mit.edu 37 2 241722504 241722504 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr2:241722504G>A ENST00000498729.2 - 9 1067 c.821C>T c.(820-822)tCg>tTg p.S274L KIF1A_ENST00000320389.7_Missense_Mutation_p.S274L NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 274 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGTGGTCAGCGACTTGTTGAT 0.657000 24 40 0 0 0.667858 0 0 XYLT1 64131 broad.mit.edu 37 16 17202658 17202658 + Missense_Mutation SNP G G C TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr16:17202658G>C ENST00000261381.6 - 12 2858 c.2774C>G c.(2773-2775)aCa>aGa p.T925R NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 925 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CGGGCAGGCTGTGGGGCCCGT 0.677000 9 19 0 0 0.307466 0 0 ATP5A1 498 broad.mit.edu 37 18 43666161 43666161 + Silent SNP G G A rs141613719 TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr18:43666161G>A ENST00000593152.2 - 10 1736 c.1197C>T c.(1195-1197)ttC>ttT p.F399F ATP5A1_ENST00000398752.6_Silent_p.F449F|ATP5A1_ENST00000590665.1_Silent_p.F427F|ATP5A1_ENST00000282050.2_Silent_p.F449F NM_001257335.1 NP_001244264.1 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle 449 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1) 22 GGTCAGAACCGAACTGGGCAA 0.458000 52 44 0 0 0.870114 0 0 LRP1B 53353 broad.mit.edu 37 2 141267498 141267498 + Splice_Site SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr2:141267498G>A ENST00000389484.3 - 52 9368 c.8398_splice c.e52+1 p.C2799_splice NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2799 LDL-receptor class A 17. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.C2799C(2) 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) TGTTCATACCGCAGCCTGCTG 0.507000 TSP Lung(27;0.18) 4 110 0 0 0.150653 0 0 MC3R 4159 broad.mit.edu 37 20 54823948 54823948 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr20:54823948G>A ENST00000243911.2 + 1 161 c.49G>A c.(49-51)Ggc>Agc p.G17S NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 54 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) ACTGCCTAATGGCTCGGAGCA 0.582000 56 153 0 0 0.870114 0 0 MAPKAP1 79109 broad.mit.edu 37 9 128347842 128347842 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr9:128347842C>T ENST00000265960.3 - 5 995 c.663G>A c.(661-663)ccG>ccA p.P221P MAPKAP1_ENST00000373503.3_Silent_p.P29P|MAPKAP1_ENST00000350766.3_Silent_p.P221P|MAPKAP1_ENST00000373497.5_Silent_p.P29P|MAPKAP1_ENST00000394060.3_Silent_p.P221P|MAPKAP1_ENST00000394063.1_Silent_p.P29P|MAPKAP1_ENST00000373511.2_Silent_p.P221P|MAPKAP1_ENST00000373498.1_Silent_p.P221P NM_001006617.1 NP_001006618.1 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated protein 1 221 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding p.P221P(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3) 23 ACTTGAGCTTCGGCTCCCGTC 0.532000 26 111 0 0 0.706142 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6077066 6077066 + Nonsense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr7:6077066G>A ENST00000199389.6 - 11 1467 c.1321C>T c.(1321-1323)Cga>Tga p.R441* EIF2AK1_ENST00000536084.1_Nonsense_Mutation_p.R317* NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 441 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) TTCAGATCTCGGTGCACAATT 0.378000 32 45 0 0 0.804634 0 0 KLHL17 339451 broad.mit.edu 37 1 898584 898584 + Missense_Mutation SNP G G T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr1:898584G>T ENST00000338591.3 + 7 1245 c.1138G>T c.(1138-1140)Gcc>Tcc p.A380S NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch-like family member 17 380 Interaction with F-actin (By similarity). actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACGCGCCGGGCCCGGGTGGG 0.716000 4 13 0.00024832 0.000261564 0.150653 1 0 PIK3C2G 5288 broad.mit.edu 37 12 18435208 18435208 + Missense_Mutation SNP G G T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr12:18435208G>T ENST00000433979.1 + 2 309 c.193G>T c.(193-195)Gtg>Ttg p.V65L PIK3C2G_ENST00000535651.1_Missense_Mutation_p.V65L|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.V65L|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.V65L NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 65 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) CACCTTTTTTGTGCCCACTGC 0.408000 4 86 0.150653 0.154567 0.150653 1 0 PRRC2B 84726 broad.mit.edu 37 9 134367624 134367624 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr9:134367624C>T ENST00000357304.4 + 29 6505 c.6450C>T c.(6448-6450)ccC>ccT p.P2150P PRRC2B_ENST00000405995.1_Silent_p.P1456P|PRRC2B_ENST00000372249.1_Silent_p.P247P|PRRC2B_ENST00000465931.1_3'UTR|PRRC2B_ENST00000458550.1_Silent_p.P1456P NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 2150 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CAGGAGGCCCCGTGCCATCGC 0.552000 15 88 0 0 0.500413 0 0 ZHX2 22882 broad.mit.edu 37 8 123966105 123966105 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr8:123966105C>T ENST00000314393.4 + 3 3190 c.2355C>T c.(2353-2355)aaC>aaT p.N785N NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 785 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) GCGACGAGAACGAGGAGTCGA 0.612000 9 31 0 0 0.335167 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25314436 25314436 + Missense_Mutation SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr4:25314436C>T ENST00000302874.4 + 1 29 c.5C>T c.(4-6)gCg>gTg p.A2V ZCCHC4_ENST00000505451.1_3'UTR NM_024936.2 NP_079212.2 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 2 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) GGGAAGATGGCGGCCTCCAGG 0.652000 OREG0016141 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 174 0 0 0.184627 0 0 NAB2 4665 broad.mit.edu 37 12 57485446 57485446 + Missense_Mutation SNP T T C TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr12:57485446T>C ENST00000300131.3 + 2 1000 c.622T>C c.(622-624)Ttc>Ctc p.F208L NAB2_ENST00000342556.6_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 208 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.F208L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CTCGCCCCCCTTCTCCCCCCC 0.716000 6 37 0 0 0.307466 0 0 DPP9 91039 broad.mit.edu 37 19 4684712 4684712 + Missense_Mutation SNP C C A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr19:4684712C>A ENST00000262960.9 - 18 2418 c.2141G>T c.(2140-2142)cGa>cTa p.R714L DPP9_ENST00000601173.1_5'UTR|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000594671.1_Missense_Mutation_p.R685L|DPP9_ENST00000598800.1_Missense_Mutation_p.R685L NM_139159.4 NP_631898.3 Q86TI2 DPP9_HUMAN dipeptidyl-peptidase 9 685 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) CCGAAGCCCTCGCTGACAGGA 0.582000 7 15 1.26484e-09 1.3688e-09 0.278610 1 0 GLOD4 51031 broad.mit.edu 37 17 685428 685428 + Missense_Mutation SNP T T C TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr17:685428T>C ENST00000301329.6 - 1 153 c.68A>G c.(67-69)tAt>tGt p.Y23C GLOD4_ENST00000536578.1_5'UTR|GLOD4_ENST00000301328.5_Missense_Mutation_p.Y23C NM_016080.3 NP_057164.3 Q9HC38 GLOD4_HUMAN glyoxalase domain containing 4 23 mitochondrion endometrium(1)|large_intestine(1)|prostate(1) 3 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) GACGTCCCGATAGAAACGCGC 0.692000 13 32 0 0 0.435327 0 0 PPP1R10 5514 broad.mit.edu 37 6 30571952 30571952 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr6:30571952C>T ENST00000376511.2 - 14 1893 c.1341G>A c.(1339-1341)gcG>gcA p.A447A NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 447 Essential for PPP1CA inhibition (By similarity).|Interaction with WDR82 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 TCAGACGCCGCGCTGTCTCAA 0.552000 109 45 0 0 0.870114 0 0 DHX58 79132 broad.mit.edu 37 17 40253880 40253880 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr17:40253880G>A ENST00000251642.3 - 14 2158 c.1936C>T c.(1936-1938)Cgg>Tgg p.R646W NM_024119.2 NP_077024.2 Q96C10 DHX58_HUMAN DEXH (Asp-Glu-X-His) box polypeptide 58 646 RNA-binding. innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GCCTGGATCCGCCCCTGAGGG 0.587000 OREG0024418 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 68 0 0 0.479597 0 0 RIMBP3 85376 broad.mit.edu 37 22 20458538 20458538 + Nonsense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr22:20458538G>A ENST00000426804.1 - 1 3248 c.2764C>T c.(2764-2766)Cag>Tag p.Q922* NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) GCTTCATCCTGCCCCGCTGGG 0.597000 10 34 0 0 0.387290 0 0 POM121L12 285877 broad.mit.edu 37 7 53103445 53103445 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr7:53103445C>T ENST00000408890.4 + 1 97 c.81C>T c.(79-81)gaC>gaT p.D27D NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 27 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 AAGGCCCCGACGCCCTGGCGG 0.701000 7 13 0 0 0.248553 0 0 NAA11 84779 broad.mit.edu 37 4 80247011 80247011 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr4:80247011C>T ENST00000286794.4 - 1 193 c.21G>A c.(19-21)caG>caA p.Q7Q NM_032693.2 NP_116082.1 Q9BSU3 NAA11_HUMAN N(alpha)-acetyltransferase 11, NatA catalytic subunit 7 Interaction with NAA15 (By similarity).|N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 GGTCGTCTGGCTGAGCGTTGC 0.522000 15 25 0 0 0.500413 0 0 RPL4 6124 broad.mit.edu 37 15 66795855 66795855 + Missense_Mutation SNP G G A rs142487012 TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr15:66795855G>A ENST00000307961.6 - 2 108 c.16C>T c.(16-18)Cca>Tca p.P6S RPL4_ENST00000568588.1_5'UTR NM_000968.3 NP_000959.2 P36578 RL4_HUMAN ribosomal protein L4 6 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1) 17 GATATCAGTGGGCGAGCACAC 0.403000 26 11 0 0 0.693898 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 5 5 0 0 0.217242 0 0 EGF 1950 broad.mit.edu 37 4 110915936 110915936 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr4:110915936G>A ENST00000265171.5 + 20 3350 c.2905G>A c.(2905-2907)Gta>Ata p.V969I EGF_ENST00000503392.1_Missense_Mutation_p.V928I|EGF_ENST00000509793.1_Missense_Mutation_p.V927I NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 969 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) CCACTATTCCGTAAGAAATAG 0.443000 27 47 0 0 0.717897 0 0 LSS 4047 broad.mit.edu 37 21 47626627 47626627 + Missense_Mutation SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr21:47626627C>T ENST00000397728.3 - 16 1601 c.1523G>A c.(1522-1524)gGg>gAg p.G508E LSS_ENST00000356396.4_Missense_Mutation_p.G508E|LSS_ENST00000457828.2_Missense_Mutation_p.G428E|LSS_ENST00000522411.1_Missense_Mutation_p.G497E NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 508 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) CAAGTGCCCCCCACGCTTGGT 0.602000 20 56 0 0 0.624587 0 0 DSN1 79980 broad.mit.edu 37 20 35399490 35399490 + Silent SNP G G A rs139234953 TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr20:35399490G>A ENST00000426836.1 - 3 513 c.141C>T c.(139-141)ggC>ggT p.G47G DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000448110.1_Silent_p.G31G|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373745.3_Silent_p.G47G|DSN1_ENST00000373750.4_Silent_p.G47G NM_001145316.1 NP_001138788.1 Q9H410 DSN1_HUMAN DSN1, MIS12 kinetochore complex component 47 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 16 Myeloproliferative disorder(115;0.00874) CCTCTGAAACGCCTTGATTCA 0.448000 53 205 0 0 0.870114 0 0 CROCCP2 84809 broad.mit.edu 37 1 16956460 16956460 + RNA SNP A A C TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr1:16956460A>C ENST00000412962.1 - 0 294 tgcctgggcaattttttaaat 0.572000 2 5 0 0 0.115264 0 0 MTF1 4520 broad.mit.edu 37 1 38323083 38323083 + Missense_Mutation SNP A A G TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr1:38323083A>G ENST00000373036.4 - 2 388 c.248T>C c.(247-249)cTg>cCg p.L83P MTF1_ENST00000468190.1_5'UTR NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 83 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ATGATCTATCAGGTGAAAGCC 0.483000 3 80 0 0 0.115264 0 0 FAM149A 25854 broad.mit.edu 37 4 187074901 187074901 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr4:187074901C>T ENST00000356371.5 + 5 1062 c.1062C>T c.(1060-1062)tgC>tgT p.C354C FAM149A_ENST00000502970.1_Silent_p.C63C|FAM149A_ENST00000389354.5_Silent_p.C63C|FAM149A_ENST00000227065.4_Silent_p.C63C|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000503432.1_Silent_p.C63C|FAM149A_ENST00000514153.1_Silent_p.C63C A5PLN7 F149A_HUMAN family with sequence similarity 149, member A 354 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2) 25 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) TCAGTGCCTGCGGACACAGCA 0.468000 4 174 0 0 0.150653 0 0 GPC5 2262 broad.mit.edu 37 13 92345950 92345950 + Nonsense_Mutation SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr13:92345950C>T ENST00000377067.3 + 3 1207 c.835C>T c.(835-837)Cga>Tga p.R279* NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 279 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CAATGTCATGCGAGGCTGCCT 0.542000 22 27 0 0 0.608945 0 0 ILK 3611 broad.mit.edu 37 11 6630568 6630568 + Silent SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr11:6630568G>A ENST00000396751.2 + 7 1113 c.657G>A c.(655-657)gtG>gtA p.V219V ILK_ENST00000299421.4_Silent_p.V219V|ILK_ENST00000526711.1_3'UTR|ILK_ENST00000420936.2_Silent_p.V219V|ILK_ENST00000537806.1_Silent_p.V85V|ILK_ENST00000528995.1_Silent_p.V158V|RP11-732A19.2_ENST00000527398.1_RNA NM_001014795.1 NP_001014795.1 Q13418 ILK_HUMAN integrin-linked kinase 219 Protein kinase. cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent cytosol|focal adhesion ATP binding|protein serine/threonine kinase activity central_nervous_system(1) 1 Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152) Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163) ACATTGTCGTGAAGGTGCTGA 0.547000 24 57 0 0 0.717897 0 0 TCERG1 10915 broad.mit.edu 37 5 145851099 145851099 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr5:145851099G>A ENST00000296702.5 + 9 1599 c.1561G>A c.(1561-1563)Gca>Aca p.A521T TCERG1_ENST00000394421.2_Missense_Mutation_p.A500T NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 521 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCCCAGAAGGCAAAGCCAGT 0.388000 74 67 0 0 0.870114 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 68 0 0 0.115264 0 0 MTPAP 55149 broad.mit.edu 37 10 30638194 30638194 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr10:30638194G>A ENST00000263063.3 - 1 54 c.11C>T c.(10-12)cCc>cTc p.P4L MTPAP_ENST00000358107.4_Intron|MTPAP_ENST00000488290.1_Intron NM_018109.3 NP_060579.3 Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase 4 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 CCCCACGCCGGGAACCGCCAT 0.567000 3 31 0 0 0.115264 0 0 EEPD1 80820 broad.mit.edu 37 7 36194642 36194642 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr7:36194642G>A ENST00000242108.4 + 2 1427 c.709G>A c.(709-711)Ggg>Agg p.G237R EEPD1_ENST00000534978.1_Missense_Mutation_p.G237R NM_030636.2 NP_085139.2 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family domain containing 1 237 DNA repair DNA binding endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 GCCGCCAGGGGGGCCCACCCA 0.662000 8 28 0 0 0.307466 0 0 PDE7A 5150 broad.mit.edu 37 8 66695027 66695027 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr8:66695027G>A ENST00000401827.3 - 2 633 c.190C>T c.(190-192)Cgt>Tgt p.R64C PDE7A_ENST00000379419.4_Missense_Mutation_p.R38C|PDE7A_ENST00000396642.3_Missense_Mutation_p.R64C NM_001242318.2 NP_001229247.1 Q13946 PDE7A_HUMAN phosphodiesterase 7A 64 cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1) 10 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) CCTAGCATACGAATGTATAAT 0.284000 11 15 0 0 0.457914 0 0 APBA3 9546 broad.mit.edu 37 19 3752701 3752701 + Silent SNP C C G TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr19:3752701C>G ENST00000316757.3 - 8 1400 c.1200G>C c.(1198-1200)cgG>cgC p.R400R NM_004886.3 NP_004877.1 O96018 APBA3_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 3 400 PDZ 1. intracellular signal transduction|protein transport intracellular|membrane protein binding endometrium(1)|large_intestine(1)|skin(1) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCCCCTCGCCGCTTCTCGA 0.746000 6 8 0 0 0.217242 0 0 SPOP 8405 broad.mit.edu 37 17 47688665 47688665 + Missense_Mutation SNP T T C TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr17:47688665T>C ENST00000393331.3 - 8 1105 c.635A>G c.(634-636)cAg>cGg p.Q212R SPOP_ENST00000347630.2_Missense_Mutation_p.Q212R|SPOP_ENST00000504102.1_Missense_Mutation_p.Q212R|SPOP_ENST00000503676.1_Missense_Mutation_p.Q212R|SPOP_ENST00000393328.2_Missense_Mutation_p.Q212R NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 212 BTB. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CTTGTGAGCCTGGAATTCCTG 0.448000 Prostate(2;0.17) 4 201 0 0 0.150653 0 0 KRT6B 3854 broad.mit.edu 37 12 52843354 52843354 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr12:52843354G>A ENST00000252252.3 - 5 1023 c.976C>T c.(976-978)Cgc>Tgc p.R326C NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 326 Linker 12.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) TCCAGGTTGCGGTTGTTGTCC 0.527000 4 220 0 0 0.150653 0 0 SYNE1 23345 broad.mit.edu 37 6 152651634 152651634 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr6:152651634G>A ENST00000367255.5 - 78 14787 c.14186C>T c.(14185-14187)gCg>gTg p.A4729V SYNE1_ENST00000341594.5_Missense_Mutation_p.A4476V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4658V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A4658V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4729V NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4729 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 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) TTCATCCACCGCCTCCCCAAG 0.552000 HNSCC(10;0.0054) 14 42 0 0 0.539581 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56703238 56703238 + Missense_Mutation SNP G G C TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr19:56703238G>C ENST00000586855.2 - 3 882 c.569C>G c.(568-570)gCt>gGt p.A190G ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.A190G A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 190 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GGACAGTGCAGCGACCCTGGG 0.622000 6 31 0 0 0.248553 0 0 AKAP3 10566 broad.mit.edu 37 12 4735774 4735774 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr12:4735774G>A ENST00000545990.2 - 5 2818 c.2294C>T c.(2293-2295)aCg>aTg p.T765M AKAP3_ENST00000228850.1_Missense_Mutation_p.T765M NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 765 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 AACTGTGTCCGTTAGGTTGTG 0.488000 30 126 0 0 0.740014 0 0 ITGB4 3691 broad.mit.edu 37 17 73753345 73753345 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr17:73753345C>T ENST00000200181.3 + 39 5470 c.5283C>T c.(5281-5283)agC>agT p.S1761S ITGB4_ENST00000579662.1_Silent_p.S1691S|ITGB4_ENST00000450894.3_Silent_p.S1691S|ITGB4_ENST00000449880.2_Silent_p.S1744S|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000339591.3_Silent_p.S1744S NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1761 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCGAGTACAGCAGCATCACCA 0.667000 16 37 0 0 0.479597 0 0 CKAP5 9793 broad.mit.edu 37 11 46800015 46800015 + Missense_Mutation SNP C C G TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr11:46800015C>G ENST00000529230.1 - 21 2614 c.2568G>C c.(2566-2568)gaG>gaC p.E856D CKAP5_ENST00000312055.5_Missense_Mutation_p.E856D|CKAP5_ENST00000354558.3_Missense_Mutation_p.E856D|CKAP5_ENST00000415402.1_Missense_Mutation_p.E856D Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 856 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 CCTACCTGATCTCCGTCCTCG 0.413000 23 54 0 0 0.667858 0 0 CCDC178 374864 broad.mit.edu 37 18 30969508 30969508 + Silent SNP A A C TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr18:30969508A>C ENST00000383096.3 - 5 386 c.204T>G c.(202-204)acT>acG p.T68T CCDC178_ENST00000579916.1_Silent_p.T68T|CCDC178_ENST00000583930.1_Silent_p.T68T|CCDC178_ENST00000579947.1_Silent_p.T68T|CCDC178_ENST00000402325.1_Silent_p.T68T|CCDC178_ENST00000403303.1_Silent_p.T68T|CCDC178_ENST00000300227.8_Silent_p.T68T|CCDC178_ENST00000406524.2_Silent_p.T68T coiled-coil domain containing 178 CCTCACCTTCAGTATTTGTCA 0.279000 19 43 0 0 0.592651 0 0 XPO7 23039 broad.mit.edu 37 8 21851879 21851879 + Silent SNP T T A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr8:21851879T>A ENST00000434536.1 + 20 2283 c.2181T>A c.(2179-2181)acT>acA p.T727T XPO7_ENST00000252512.9_Silent_p.T718T|XPO7_ENST00000433566.4_Silent_p.T719T Q9UIA9 XPO7_HUMAN exportin 7 718 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) TACAGCGAACTCTAGTTGGCC 0.388000 18 35 0 0 0.575678 0 0 NDNF 79625 broad.mit.edu 37 4 121957686 121957686 + Silent SNP G G A rs146653001 TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr4:121957686G>A ENST00000379692.4 - 4 1966 c.1440C>T c.(1438-1440)atC>atT p.I480I NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 480 Fibronectin type-III 2. breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 CTTTTTTGTAGATGCAAAACT 0.433000 24 67 0 0 0.639603 0 0 WDTC1 23038 broad.mit.edu 37 1 27632707 27632707 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr1:27632707G>A ENST00000319394.3 + 16 2402 c.1867G>A c.(1867-1869)Gat>Aat p.D623N WDTC1_ENST00000361771.3_Missense_Mutation_p.D622N NM_001276252.1|NM_015023.3 NP_001263181.1|NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 623 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) AGTCGTGGAAGATATGGAGGG 0.607000 19 36 0 0 0.557998 0 0 FSCB 84075 broad.mit.edu 37 14 44974032 44974032 + Missense_Mutation SNP G G A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr14:44974032G>A ENST00000340446.4 - 1 2450 c.2159C>T c.(2158-2160)cCa>cTa p.P720L NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 720 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CAAATCAGCTGGTGGGGAATG 0.522000 11 30 0 0 0.457914 0 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 32077661 32077661 + RNA SNP T T C TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr16:32077661T>C ENST00000354689.6 + 0 276 RP11-1166P10.6_ENST00000566806.1_RNA AGGACACGGCTGTGTATTACT 0.552000 7 417 0 0 0.278610 0 0 OBSL1 23363 broad.mit.edu 37 2 220435109 220435109 + Silent SNP C C T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr2:220435109C>T ENST00000404537.1 - 1 902 c.846G>A c.(844-846)gaG>gaA p.E282E OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000373876.1_Silent_p.E282E|OBSL1_ENST00000603926.1_Silent_p.E282E|OBSL1_ENST00000373873.4_Silent_p.E282E|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000265318.4_Silent_p.E282E NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 282 Ig-like 3. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GCGGGCGGCCCTCCCAGTGCC 0.672000 10 20 0 0 0.361761 0 0 LINC01250 101927554 broad.mit.edu 37 2 2910678 2910679 + RNA INS - - C rs140675846 by1000genomes TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr2:2910678_2910679insC ENST00000457478.1 - 0 594 caccccctcttcccagcccaca 0.703 4 2 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195690462 195690463 + RNA INS - - G TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr3:195690462_195690463insG ENST00000427841.1 - 0 2203 NR_003264.2 catgcgcaacaggggactgtaa 0.366 3 4 --- --- --- --- HLA-A 3105 broad.mit.edu 37 6 29911160 29911179 + Frame_Shift_Del DEL CCTGCGCTCTTGGACCGCGG CCTGCGCTCTTGGACCGCGG - rs41542714 TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr6:29911160_29911179delCCTGCGCTCTTGGACCGCGG ENST00000396634.1 + 5 800_819 c.459_478delCCTGCGCTCTTGGACCGCGG c.(457-480)gacgfs p.DLRSWTAA153fs HLA-A_ENST00000376809.5_Frame_Shift_Del_p.DLRSWTAA153fs|HLA-A_ENST00000376802.2_Frame_Shift_Del_p.DLRSWTAA153fs|HLA-A_ENST00000376806.5_Frame_Shift_Del_p.DLRSWTAA153fs P30443 1A01_HUMAN major histocompatibility complex, class I, A 153 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.A160fs*15(1) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGAACGAGGACCTGCGCTCTTGGACCGCGGCGGACATGGC 0.655 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 14 25 --- --- --- --- TTLL2 83887 broad.mit.edu 37 6 167754366 167754367 + Frame_Shift_Ins INS - - T rs150247166 TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr6:167754366_167754367insT ENST00000239587.5 + 3 1066_1067 c.978_979insT c.(976-981)agttttfs p.SF326fs NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 326 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CGCTCAGCAGATTTTTTTCCTA 0.446 82 161 --- --- --- --- RP11-513H8.1 0 broad.mit.edu 37 8 135331910 135331935 + RNA DEL CCAGGGAGAGGGTGTGAGGGGTCAAT CCAGGGAGAGGGTGTGAGGGGTCAAT - rs13271339 TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr8:135331910_135331935delCCAGGGAGAGGGTGTGAGGGGTCAAT ENST00000523317.1 - 0 84 CCACAGCAGCCCAGGGAGAGGGTGTGAGGGGTCAATCCAGGGAGAG 0.544 2 4 --- --- --- --- HERC2P4 100289574 broad.mit.edu 37 16 32126964 32126964 + RNA DEL T T - rs77063499 TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr16:32126964delT ENST00000564145.1 - 0 456 TTGCCCCCCCTGCCGCCGCGG 0.692 2 4 --- --- --- --- EPN2 22905 broad.mit.edu 37 17 19232949 19232950 + Frame_Shift_Ins INS - - A TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr17:19232949_19232950insA ENST00000314728.5 + 9 1884_1885 c.1400_1401insA c.(1399-1401)taafs p.*467fs EPN2_ENST00000347697.2_Frame_Shift_Ins_p.*410fs|EPN2_ENST00000395626.1_Frame_Shift_Ins_p.*467fs|EPN2_ENST00000395620.2_Frame_Shift_Ins_p.*410fs|EPN2_ENST00000571254.1_Frame_Shift_Ins_p.*403fs|EPN2_ENST00000575595.1_Frame_Shift_Ins_p.*175fs|EPN2_ENST00000395618.3_Frame_Shift_Ins_p.*182fs NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 467 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding p.T470fs*19(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) CTTCGGACTTCAAAAAAAACAG 0.396 7 139 --- --- --- --- UPF3AP2 147150 broad.mit.edu 37 17 20279654 20279655 + RNA INS - - T TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr17:20279654_20279655insT ENST00000578315.1 - 0 51_52 atctgtctctcttttttttttt 0.381 2 4 --- --- --- --- TBC1D3B 414059 broad.mit.edu 37 17 34499240 34499240 + Frame_Shift_Del DEL C C - TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a7f5a16-9330-45a1-9024-1cff1cdb5714 85fe30a5-dc3c-47fc-8e86-33aa839416d4 g.chr17:34499240delC ENST00000454519.3 - 7 620 c.471delG c.(469-471)atfs p.M157fs CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Frame_Shift_Del_p.M157fs NM_001001417.5 NP_001001417.5 A6NDS4 TBC3B_HUMAN TBC1 domain family, member 3B 157 Rab-GAP TBC. intracellular Rab GTPase activator activity endometrium(2)|lung(3)|pancreas(1) 6 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCCTGAAGAACATATGCTTCC 0.562 48 1435 --- --- --- ---