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 DPH2 1802 broad.mit.edu 37 1 44435899 44435899 + Missense_Mutation SNP G G C rs41270389 TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr1:44435899G>C ENST00000255108.3 + 1 224 c.52G>C c.(52-54)Ggg>Cgg p.G18R DPH2_ENST00000396758.2_Missense_Mutation_p.G18R|DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_5'UTR NM_001384.4 NP_001375.2 Q9BQC3 DPH2_HUMAN DPH2 homolog (S. cerevisiae) 18 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) GCGAGAGACCGGGGTGCCAGG 0.647 6 59 --- --- --- --- COL11A1 1301 broad.mit.edu 37 1 103488491 103488491 + Missense_Mutation SNP T T C TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr1:103488491T>C ENST00000358392.2 - 8 1405 c.1088A>G c.(1087-1089)cAg>cGg p.Q363R COL11A1_ENST00000353414.4_Missense_Mutation_p.Q312R|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q351R NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 351 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATTTTTCCTCTGGGAATCATA 0.338 11 55 --- --- --- --- BCAN 63827 broad.mit.edu 37 1 156618650 156618650 + Nonsense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr1:156618650C>T ENST00000329117.5 + 6 1396 c.1060C>T c.(1060-1062)Cga>Tga p.R354* RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Nonsense_Mutation_p.R354* NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTACTGCTTCCGAGGTGAGCC 0.557 9 74 --- --- --- --- SLC9C2 284525 broad.mit.edu 37 1 173495815 173495815 + Silent SNP A A G TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr1:173495815A>G ENST00000367714.3 - 19 2774 c.2352T>C c.(2350-2352)gcT>gcC p.A784A SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 784 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ATTCTTTGACAGCATCCTGTT 0.259 10 62 --- --- --- --- XPR1 9213 broad.mit.edu 37 1 180833005 180833005 + Missense_Mutation SNP C C A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr1:180833005C>A ENST00000367590.4 + 12 1861 c.1663C>A c.(1663-1665)Caa>Aaa p.Q555K XPR1_ENST00000367589.3_Missense_Mutation_p.Q490K NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 555 EXS. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 TGTATACCCCCAAAAAGTATG 0.408 4 82 --- --- --- --- C4BPA 722 broad.mit.edu 37 1 207317225 207317225 + Missense_Mutation SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr1:207317225G>A ENST00000367070.3 + 11 1701 c.1507G>A c.(1507-1509)Gag>Aag p.E503K NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 503 Sushi 8. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TCAGTATGTTGAGCCTGAAAA 0.433 4 53 --- --- --- --- TTC30A 92104 broad.mit.edu 37 2 178481831 178481831 + Silent SNP A A G TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr2:178481831A>G ENST00000355689.5 - 1 1863 c.1599T>C c.(1597-1599)taT>taC p.Y533Y AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) TTGGGTCATCATAAGAGAGCT 0.388 101 172 --- --- --- --- MYLK 4638 broad.mit.edu 37 3 123452701 123452701 + Missense_Mutation SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr3:123452701G>A ENST00000360772.3 - 11 1520 c.1142C>T c.(1141-1143)aCc>aTc p.T381I MYLK_ENST00000475616.1_Missense_Mutation_p.T381I|MYLK_ENST00000359169.1_Missense_Mutation_p.T381I|MYLK_ENST00000346322.5_Missense_Mutation_p.T381I|MYLK_ENST00000360304.3_Missense_Mutation_p.T381I Q15746 MYLK_HUMAN myosin light chain kinase 381 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GGTGGGGAAGGTGGCTGGACG 0.622 5 74 --- --- --- --- EPHB1 2047 broad.mit.edu 37 3 134885817 134885817 + Silent SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr3:134885817C>T ENST00000398015.3 + 9 2098 c.1728C>T c.(1726-1728)agC>agT p.S576S EPHB1_ENST00000493838.1_Silent_p.S137S NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 576 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 CTGTGTACAGCGATAAGCTCC 0.552 7 178 --- --- --- --- PPEF2 5470 broad.mit.edu 37 4 76811139 76811139 + Missense_Mutation SNP C C A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr4:76811139C>A ENST00000286719.7 - 5 744 c.388G>T c.(388-390)Gcc>Tcc p.A130S NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 130 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TCTACCAGGGCAGTTGCATGG 0.527 7 120 --- --- --- --- PCDHA12 56137 broad.mit.edu 37 5 140256502 140256502 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr5:140256502C>T ENST00000398631.2 + 1 1445 c.1445C>T c.(1444-1446)gCg>gTg p.A482V PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATGGGACGCGGACGCGCAG 0.662 5 98 --- --- --- --- HDAC3 8841 broad.mit.edu 37 5 141005788 141005788 + Missense_Mutation SNP T T G TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr5:141005788T>G ENST00000305264.3 - 11 972 c.893A>C c.(892-894)tAt>tCt p.Y298S AC008781.7_ENST00000422040.2_RNA NM_003883.3 NP_003874.2 O15379 HDAC3_HUMAN histone deacetylase 3 298 Histone deacetylase. anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|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 corepressor activity|transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) TCGGACAGTATAACCACCACC 0.512 15 24 --- --- --- --- KIF13A 63971 broad.mit.edu 37 6 17779890 17779890 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr6:17779890C>T ENST00000378814.5 - 31 3832 c.3833G>A c.(3832-3834)aGa>aAa p.R1278K KIF13A_ENST00000259711.6_Missense_Mutation_p.R1291K|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1291K|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1278K|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1291K NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1291 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CAGGGATATTCTCCTCTTCAA 0.299 13 30 --- --- --- --- HIST1H4A 8359 broad.mit.edu 37 6 26022184 26022184 + Missense_Mutation SNP G G T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr6:26022184G>T ENST00000359907.3 + 1 278 c.278G>T c.(277-279)cGc>cTc p.R93L NM_003538.3 NP_003529.1 P62805 H4_HUMAN histone cluster 1, H4a 93 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(1)|skin(1) 2 GCGCTTAAGCGCCAGGGACGC 0.537 5 71 --- --- --- --- UTRN 7402 broad.mit.edu 37 6 145157535 145157535 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr6:145157535C>T ENST00000367545.3 + 70 9923 c.9923C>T c.(9922-9924)aCg>aTg p.T3308M UTRN_ENST00000367526.4_Missense_Mutation_p.T863M NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 3308 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CCCCATCACACGTCTGAGGAT 0.502 13 153 --- --- --- --- TIAM2 26230 broad.mit.edu 37 6 155500568 155500568 + Silent SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr6:155500568G>A ENST00000461783.3 + 14 3958 c.2685G>A c.(2683-2685)aaG>aaA p.K895K TIAM2_ENST00000528391.2_Silent_p.K231K|TIAM2_ENST00000367174.2_Silent_p.K271K|TIAM2_ENST00000360366.4_Silent_p.K919K|TIAM2_ENST00000529824.2_Silent_p.K895K|TIAM2_ENST00000456877.2_Silent_p.K207K|TIAM2_ENST00000318981.5_Silent_p.K895K|TIAM2_ENST00000456144.1_Silent_p.K895K Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 895 PDZ. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGCTCACGAAGACTGGGAGTG 0.413 34 79 --- --- --- --- ELN 2006 broad.mit.edu 37 7 73456962 73456962 + Missense_Mutation SNP C C A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr7:73456962C>A ENST00000252034.7 + 6 650 c.251C>A c.(250-252)gCa>gAa p.A84E ELN_ENST00000320492.7_Missense_Mutation_p.A72E|ELN_ENST00000380553.4_Intron|ELN_ENST00000380576.5_Missense_Mutation_p.A84E|ELN_ENST00000380575.4_Missense_Mutation_p.A74E|ELN_ENST00000358929.4_Missense_Mutation_p.A84E|ELN_ENST00000380562.4_Missense_Mutation_p.A84E|ELN_ENST00000320399.6_Missense_Mutation_p.A84E|ELN_ENST00000458204.1_Missense_Mutation_p.A74E|ELN_ENST00000357036.5_Missense_Mutation_p.A84E|ELN_ENST00000380584.4_Missense_Mutation_p.A84E|ELN_ENST00000429192.1_Missense_Mutation_p.A84E|ELN_ENST00000414324.1_Missense_Mutation_p.A74E|ELN_ENST00000445912.1_Missense_Mutation_p.A84E NM_000501.2|NM_001278915.1 NP_000492.2|NP_001265844.1 P15502 ELN_HUMAN elastin 84 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) GCCTTCCCCGCAGTTACCTTT 0.637 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 10 52 --- --- --- --- OR5M8 219484 broad.mit.edu 37 11 56257968 56257968 + Missense_Mutation SNP A A C TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr11:56257968A>C ENST00000327216.2 - 1 903 c.879T>G c.(877-879)aaT>aaG p.N293K NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) TTACATTTTTATTTCTAAGGC 0.328 17 30 --- --- --- --- OR5M8 219484 broad.mit.edu 37 11 56258436 56258436 + Missense_Mutation SNP C C A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr11:56258436C>A ENST00000327216.2 - 1 435 c.411G>T c.(409-411)aaG>aaT p.K137N NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) AGCACACACTCTTGGACATTC 0.542 21 34 --- --- --- --- SLC12A6 9990 broad.mit.edu 37 15 34528968 34528968 + Nonsense_Mutation SNP C C A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr15:34528968C>A ENST00000354181.3 - 23 3475 c.2983G>T c.(2983-2985)Gaa>Taa p.E995* SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.E986*|SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000560164.1_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000451844.2_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.E944*|SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.E980* Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 995 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) GACCTTTGTTCCATCATCAAA 0.458 13 71 --- --- --- --- BNC1 646 broad.mit.edu 37 15 83935780 83935780 + Silent SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr15:83935780C>T ENST00000345382.2 - 3 328 c.243G>A c.(241-243)caG>caA p.Q81Q BNC1_ENST00000569704.1_Silent_p.Q74Q|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 81 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 CAATCTCCACCTGGCTTGTTG 0.443 5 41 --- --- --- --- NUPR1 26471 broad.mit.edu 37 16 28549403 28549403 + Silent SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr16:28549403G>A ENST00000324873.6 - 2 452 c.186C>T c.(184-186)caC>caT p.H62H NUPR1_ENST00000395641.2_Silent_p.H80H NM_001042483.1|NM_012385.2 NP_001035948.1|NP_036517.1 O60356 NUPR1_HUMAN nuclear protein, transcriptional regulator, 1 62 cell growth|induction of apoptosis nucleus breast(1)|large_intestine(1)|lung(1) 3 GTTTCCTCTCGTGCCCGCCAG 0.622 49 73 --- --- --- --- TMEM199 147007 broad.mit.edu 37 17 26687568 26687568 + Missense_Mutation SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr17:26687568G>A ENST00000292114.3 + 4 482 c.392G>A c.(391-393)gGg>gAg p.G131E TMEM199_ENST00000509083.1_Missense_Mutation_p.G131E|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000395404.3_5'UTR NM_152464.1 NP_689677.1 Q8N511 TM199_HUMAN transmembrane protein 199 131 integral to membrane endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) AGACATGGTGGGACTCTCAGC 0.468 7 26 --- --- --- --- CPD 1362 broad.mit.edu 37 17 28748781 28748781 + Missense_Mutation SNP A A C TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr17:28748781A>C ENST00000225719.4 + 4 1313 c.1237A>C c.(1237-1239)Aca>Cca p.T413P CPD_ENST00000543464.2_Missense_Mutation_p.T166P NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 413 Carboxypeptidase-like 1. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 TAATATCACAACAGGCAGATT 0.368 41 63 --- --- --- --- MYO1D 4642 broad.mit.edu 37 17 31099824 31099824 + Missense_Mutation SNP A A C TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr17:31099824A>C ENST00000318217.5 - 5 905 c.601T>G c.(601-603)Ttt>Gtt p.F201V MYO1D_ENST00000394649.4_Missense_Mutation_p.F113V|MYO1D_ENST00000579584.1_Missense_Mutation_p.F201V|MYO1D_ENST00000583621.1_Missense_Mutation_p.F201V NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 201 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) AAAGAATGAAAGCTTCTTTCT 0.393 5 207 --- --- --- --- SOGA2 23255 broad.mit.edu 37 18 8793060 8793060 + Missense_Mutation SNP T T A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr18:8793060T>A ENST00000359865.3 + 8 2094 c.1952T>A c.(1951-1953)gTg>gAg p.V651E SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000518815.1_Intron NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 980 GGTCAGCTCGTGCAGGCGGCC 0.498 39 83 --- --- --- --- HDGFRP2 84717 broad.mit.edu 37 19 4491627 4491627 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr19:4491627C>T ENST00000301284.4 + 5 618 c.554C>T c.(553-555)tCc>tTc p.S185F HDGFRP2_ENST00000586684.1_Missense_Mutation_p.S185F NM_001001520.1|NM_032631.2 NP_001001520|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 185 Ser-rich. transcription, DNA-dependent nucleus DNA binding|protein binding GTGTCCCCATCCGAAGAGGAG 0.617 9 52 --- --- --- --- C3 718 broad.mit.edu 37 19 6707507 6707507 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr19:6707507C>T ENST00000245907.6 - 16 2109 c.2017G>A c.(2017-2019)Gtg>Atg p.V673M NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 673 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GTGAGCTGCACGGAACGGCGT 0.662 5 64 --- --- --- --- ADAMTS10 81794 broad.mit.edu 37 19 8654353 8654353 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr19:8654353C>T ENST00000270328.4 - 16 2283 c.2017G>A c.(2017-2019)Gtc>Atc p.V673I ADAMTS10_ENST00000597188.1_Missense_Mutation_p.V673I|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.V160I Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 673 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 TCGCCACTGACGCAAATGTCC 0.657 6 67 --- --- --- --- CD22 933 broad.mit.edu 37 19 35831815 35831815 + Silent SNP A A G TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr19:35831815A>G ENST00000085219.5 + 7 1347 c.1281A>G c.(1279-1281)caA>caG p.Q427Q CD22_ENST00000544992.2_Silent_p.Q427Q|CD22_ENST00000270311.6_Silent_p.Q307Q|CD22_ENST00000594250.1_Silent_p.Q250Q|CD22_ENST00000536635.2_Silent_p.Q339Q|CD22_ENST00000419549.2_Silent_p.Q255Q|CD22_ENST00000341773.6_Silent_p.Q250Q NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 427 Ig-like C2-type 4. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CAGTGATTCAAAACCCCATGC 0.507 3 83 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43430713 43430713 + RNA SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr19:43430713G>A ENST00000446844.3 - 0 954 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TTTTCAATGCGTCGCTTTACC 0.493 109 226 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45381839 45381839 + Missense_Mutation SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr19:45381839G>A ENST00000252485.4 + 6 1753 c.1402G>A c.(1402-1404)Gac>Aac p.D468N PVRL2_ENST00000252483.5_Intron NM_002856.2 NP_002847.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 527 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) GTCCCAGCTGGACGGCTCCCT 0.637 3 34 --- --- --- --- ZNF256 10172 broad.mit.edu 37 19 58453386 58453386 + Missense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr19:58453386C>T ENST00000282308.3 - 3 986 c.790G>A c.(790-792)Gaa>Aaa p.E264K ZNF256_ENST00000598928.1_3'UTR NM_005773.2 NP_005764.2 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 264 multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) TAAGGCTTTTCTGAAGTGTGA 0.428 67 360 --- --- --- --- SOGA1 140710 broad.mit.edu 37 20 35425294 35425294 + Missense_Mutation SNP C C G TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr20:35425294C>G ENST00000237536.4 - 13 3814 c.3473G>C c.(3472-3474)gGt>gCt p.G1158A SOGA1_ENST00000357779.3_Missense_Mutation_p.G920A|SOGA1_ENST00000456801.2_Missense_Mutation_p.G761A|SOGA1_ENST00000279034.6_Missense_Mutation_p.G920A NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 920 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 CCTCTTTAAACCATTTCCTCC 0.582 11 43 --- --- --- --- RBM11 54033 broad.mit.edu 37 21 15592040 15592040 + Nonsense_Mutation SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr21:15592040C>T ENST00000400577.3 + 2 262 c.253C>T c.(253-255)Cga>Tga p.R85* RBM11_ENST00000468643.1_3'UTR NM_144770.3 NP_658983.3 P57052 RBM11_HUMAN RNA binding motif protein 11 85 RRM. nucleotide binding|RNA binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) CGTGCAGTATCGATTTGGTAG 0.373 3 13 --- --- --- --- IGLV3-25 28793 broad.mit.edu 37 22 23029467 23029467 + RNA SNP G G A TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr22:23029467G>A ENST00000390305.2 + 0 112 CCTATGAGCTGACACAGCCAC 0.572 7 74 --- --- --- --- SEZ6L 23544 broad.mit.edu 37 22 26707841 26707841 + Missense_Mutation SNP G G T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr22:26707841G>T ENST00000529632.2 + 8 1985 c.1789G>T c.(1789-1791)Ggc>Tgc p.G597C SEZ6L_ENST00000360929.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G597C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G370C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G597C|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G370C NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 597 Sushi 2. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CTGCGACCCCGGCCACTCCCT 0.567 4 187 --- --- --- --- FAM47C 442444 broad.mit.edu 37 X 37028160 37028160 + Silent SNP C C T TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chrX:37028160C>T ENST00000358047.3 + 1 1729 c.1677C>T c.(1675-1677)cgC>cgT p.R559R NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 559 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCCATCTCCGCCCAGAGCCTC 0.612 36 12 --- --- --- --- SENP7 57337 broad.mit.edu 37 3 101086791 101086800 + Frame_Shift_Del DEL TTTAACATCC TTTAACATCC - TCGA-VP-A87D-01A-11D-A34U-08 TCGA-VP-A87D-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a582e00-aad2-4360-868a-9ab8fa301eaa 4ca66d58-c6b9-4c71-b209-aa0a52690c09 g.chr3:101086791_101086800delTTTAACATCC ENST00000394095.2 - 8 905_914 c.852_861delGGATGTTAAA c.(850-861)aaggatgttaaafs p.KDVK284fs SENP7_ENST00000314261.7_Frame_Shift_Del_p.KDVK218fs|SENP7_ENST00000394091.1_Frame_Shift_Del_p.KDVK120fs|SENP7_ENST00000394094.2_Frame_Shift_Del_p.KDVK219fs|SENP7_ENST00000348610.3_Frame_Shift_Del_p.KDVK251fs|SENP7_ENST00000358203.3_Frame_Shift_Del_p.KDVK120fs NM_001282802.1|NM_020654.3 NP_001269731.1|NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 284 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AATCAGAATATTTAACATCCTTGTTTCTGC 0.333 10 100 --- --- --- ---