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 WNK3 65267 broad.mit.edu 37 X 54328282 54328282 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:54328282G>C ENST00000354646.2 - 6 1538 c.1100C>G c.(1099-1101)cCa>cGa p.P367R WNK3_ENST00000375159.2_Missense_Mutation_p.P367R|WNK3_ENST00000375169.3_Missense_Mutation_p.P367R NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 367 Protein kinase. intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 GAAGCTGGCTGGTTTTATGCC 0.333000 13 27 0 0 1 0 0 KLC1 3831 broad.mit.edu 37 14 104136555 104136555 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr14:104136555G>T ENST00000389744.4 + 7 1191 c.922G>T c.(922-924)Ggt>Tgt p.G308C KLC1_ENST00000334553.6_Missense_Mutation_p.G308C|KLC1_ENST00000246489.7_Missense_Mutation_p.G308C|KLC1_ENST00000452929.2_Missense_Mutation_p.G308C|KLC1_ENST00000554280.1_Missense_Mutation_p.G308C|KLC1_ENST00000557575.1_Missense_Mutation_p.G308C|KLC1_ENST00000553286.1_Missense_Mutation_p.G308C|KLC1_ENST00000445352.4_Missense_Mutation_p.G306C|KLC1_ENST00000557450.1_Missense_Mutation_p.G308C|KLC1_ENST00000348520.6_Missense_Mutation_p.G308C|KLC1_ENST00000347839.6_Missense_Mutation_p.G308C|KLC1_ENST00000380038.3_Missense_Mutation_p.G308C|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.G480C|KLC1_ENST00000555836.1_Missense_Mutation_p.G308C Q07866 KLC1_HUMAN kinesin light chain 1 308 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) AGTCCTTTATGGTAAAAGAGG 0.408000 39 100 1.15183e-24 1.69406e-24 1 1 0 PKHD1 5314 broad.mit.edu 37 6 51907870 51907870 + Silent SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:51907870A>G ENST00000371117.3 - 27 3159 c.2884T>C c.(2884-2886)Ttg>Ctg p.L962L PKHD1_ENST00000340994.4_Silent_p.L962L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 962 IPT/TIG 4. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GTAACCTGCAAGAACTGGGAG 0.368000 22 31 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15281357 15281357 + Silent SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:15281357C>G ENST00000263388.2 - 27 4974 c.4899G>C c.(4897-4899)ccG>ccC p.P1633P NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1633 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GAGGCTCCAGCGGCTCCCCTA 0.716000 24 19 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214576257 214576257 + Nonsense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:214576257G>A ENST00000366956.5 - 6 744 c.550C>T c.(550-552)Cag>Tag p.Q184* PTPN14_ENST00000543945.1_Nonsense_Mutation_p.Q184* NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 184 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GCTACCTTCTGGGTCAGCTCC 0.527000 55 103 0 0 1 0 0 IPO5 3843 broad.mit.edu 37 13 98628962 98628962 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr13:98628962C>A ENST00000261574.5 + 4 246 c.66C>A c.(64-66)gcC>gcA p.A22A IPO5_ENST00000490680.1_Silent_p.A4A|IPO5_ENST00000539640.1_Silent_p.A4A NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 4 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 TGGCGGCGGCCGCGGCGGAGC 0.706000 6 7 0.00116845 0.00121925 1 1 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 7 91 0 0 1 0 0 TCF15 6939 broad.mit.edu 37 20 590476 590476 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr20:590476C>A ENST00000246080.3 - 1 566 c.406G>T c.(406-408)Gac>Tac p.D136Y NM_004609.3 NP_004600.2 Q12870 TCF15_HUMAN transcription factor 15 (basic helix-loop-helix) 136 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|lung(2)|prostate(1) 4 Breast(17;0.231) GGCTGCCCGTCGTCGGCCGAG 0.736000 4 11 1 1 1 1 0 XIST 7503 broad.mit.edu 37 X 73063403 73063403 + RNA SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:73063403T>A ENST00000429829.1 - 0 9185 NR_001564.2 GGAGATCAACTCTTAGTCTAA 0.373000 11 35 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146064571 146064571 + Silent SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:146064571T>A ENST00000454497.2 - 17 1571 c.1434A>T c.(1432-1434)acA>acT p.T478T OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Silent_p.T543T NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 542 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GTGATGAAACTGTTGCATATT 0.358000 13 19 0 0 1 0 0 AEBP1 165 broad.mit.edu 37 7 44151776 44151776 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:44151776G>T ENST00000223357.3 + 17 2378 c.2073G>T c.(2071-2073)tgG>tgT p.W691C AEBP1_ENST00000450684.2_Missense_Mutation_p.W266C NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 691 Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 TGGGACTGTGGACTGAGGAGG 0.612000 32 31 9.65021e-13 1.1989e-12 1 1 0 CLCA3P 9629 broad.mit.edu 37 1 87104549 87104549 + RNA SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:87104549C>A ENST00000456587.1 - 0 294 CLCA3P_ENST00000466454.1_RNA AGATGTTCCACTCGTATTACT 0.378000 23 17 4.87955e-14 6.25341e-14 1 1 0 TDRKH 11022 broad.mit.edu 37 1 151751214 151751214 + Missense_Mutation SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:151751214T>C ENST00000368822.1 - 6 1463 c.830A>G c.(829-831)gAc>gGc p.D277G TDRKH_ENST00000368825.3_Missense_Mutation_p.D232G|TDRKH_ENST00000368827.6_Missense_Mutation_p.D277G|TDRKH_ENST00000368823.1_Missense_Mutation_p.D273G|TDRKH_ENST00000440583.2_Missense_Mutation_p.D53G|TDRKH_ENST00000368824.3_Missense_Mutation_p.D277G|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000458431.2_Missense_Mutation_p.D277G Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 277 RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CTGAAAGCTGTCATCACTAGG 0.498000 24 54 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82815734 82815734 + Missense_Mutation SNP A A T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:82815734A>T ENST00000265077.3 + 7 2174 c.1609A>T c.(1609-1611)Agc>Tgc p.S537C VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.S489C|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.S537C NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 537 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GAAAATGGTAAGCACTGTTTC 0.408000 21 86 0 0 1 0 0 CDC5L 988 broad.mit.edu 37 6 44394340 44394340 + Missense_Mutation SNP C C G rs61753598 TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:44394340C>G ENST00000371477.3 + 13 2071 c.1772C>G c.(1771-1773)cCt>cGt p.P591R NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 591 Interaction with DAPK3 (By similarity).|Interaction with PPP1R8. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTACATCACCCTTATGAACCA 0.343000 33 66 0 0 1 0 0 GNL3L 54552 broad.mit.edu 37 X 54566675 54566675 + Splice_Site SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:54566675G>T ENST00000336470.4 + 4 328 c.189_splice c.e4+1 p.W63_splice GNL3L_ENST00000489691.1_3'UTR|GNL3L_ENST00000360845.2_Splice_Site_p.W63_splice NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 63 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 AGAAGAAGTGGGTAAGCTTTT 0.493000 3 17 0.115264 0.116589 1 1 0 GCNT4 51301 broad.mit.edu 37 5 74325454 74325454 + Missense_Mutation SNP A A T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:74325454A>T ENST00000322348.4 - 1 1270 c.409T>A c.(409-411)Ttg>Atg p.L137M NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 137 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) TGGACAACCAAAGAATAGGCT 0.398000 41 99 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212568853 212568853 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:212568853G>A ENST00000342788.4 - 11 1575 c.1265C>T c.(1264-1266)aCc>aTc p.T422I ERBB4_ENST00000402597.1_Missense_Mutation_p.T422I|ERBB4_ENST00000436443.1_Missense_Mutation_p.T422I NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 422 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TCCACCAATGGTCACCAGGTT 0.388000 TSP Lung(8;0.080) 40 67 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53104001 53104001 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:53104001C>G ENST00000408890.4 + 1 653 c.637C>G c.(637-639)Cgg>Ggg p.R213G NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 213 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCTGCAGCCCCGGCCCTCTGC 0.672000 26 380 0 0 1 0 0 KCTD8 386617 broad.mit.edu 37 4 44450084 44450084 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:44450084G>C ENST00000360029.3 - 1 740 c.457C>G c.(457-459)Cag>Gag p.Q153E AC131951.1_ENST00000584757.1_RNA NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 153 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 AGAGAGTTCTGCTTGGTGACC 0.672000 HNSCC(17;0.042) 14 32 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13900315 13900315 + Splice_Site SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:13900315C>A ENST00000265104.4 - 15 2363 c.2259_splice c.e15+1 p.K753_splice NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 753 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGTAGTATACCTTCATGTTAC 0.413000 Kartagener syndrome 23 45 1.50039e-11 1.84234e-11 1 1 0 ZNF17 7565 broad.mit.edu 37 19 57931275 57931275 + Missense_Mutation SNP A A T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:57931275A>T ENST00000307658.7 + 4 684 c.421A>T c.(421-423)Agt>Tgt p.S141C AC003002.6_ENST00000596400.1_Missense_Mutation_p.151_151insC|AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Missense_Mutation_p.S139C P17021 ZNF17_HUMAN zinc finger protein 17 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) TGTGAATGACAGTGTTCACCT 0.493000 46 71 0 0 1 0 0 DMKN 93099 broad.mit.edu 37 19 36004080 36004080 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:36004080C>A ENST00000339686.3 - 1 474 c.298G>T c.(298-300)Ggg>Tgg p.G100W DMKN_ENST00000429837.1_Missense_Mutation_p.G100W|DMKN_ENST00000440396.1_Missense_Mutation_p.G100W|DMKN_ENST00000419602.1_Missense_Mutation_p.G100W|DMKN_ENST00000451297.2_Missense_Mutation_p.G100W|DMKN_ENST00000418261.1_Missense_Mutation_p.G100W|DMKN_ENST00000447113.2_Missense_Mutation_p.G100W|DMKN_ENST00000424570.2_Missense_Mutation_p.G100W NM_033317.4 NP_201574.3 Q6E0U4 DMKN_HUMAN dermokine 100 Gly-rich. extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCTGCTTCCCCGACCCTGTTG 0.597000 23 73 1.64293e-13 2.07528e-13 1 1 0 ZIC1 7545 broad.mit.edu 37 3 147130366 147130366 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:147130366C>A ENST00000282928.4 + 2 1773 c.1044C>A c.(1042-1044)gaC>gaA p.D348E NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 348 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 ACAGCAGCGACCGCAAGAAGC 0.537000 36 116 6.29468e-14 8.04744e-14 1 1 0 RBMXL1 494115 broad.mit.edu 37 1 89449354 89449354 + Silent SNP A A T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:89449354A>T ENST00000399794.2 - 3 871 c.156T>A c.(154-156)gcT>gcA p.A52A CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000321792.5_Silent_p.A52A|CCBL2_ENST00000370491.3_Intron NM_001162536.2 NP_001156008.1 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 52 RRM. nucleotide binding|RNA binding AGGTGACAAAAGCAAATCCTC 0.418000 OREG0013593 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 149 0 0 1 0 0 PPM1G 5496 broad.mit.edu 37 2 27606441 27606441 + Silent SNP C C T rs149149429 TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:27606441C>T ENST00000344034.4 - 7 1257 c.993G>A c.(991-993)gcG>gcA p.A331A PPM1G_ENST00000350803.4_Silent_p.A331A NM_177983.2 NP_817092.1 O15355 PPM1G_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1G 331 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) GGGCCACCACCGCTGTTGTAC 0.522000 10 16 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66361144 66361144 + Missense_Mutation SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:66361144A>G ENST00000273854.3 - 4 1628 c.1028T>C c.(1027-1029)tTc>tCc p.F343S EPHA5_ENST00000511294.1_Missense_Mutation_p.F343S|EPHA5_ENST00000354839.4_Missense_Mutation_p.F343S|EPHA5_ENST00000432638.2_Intron NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 343 Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CTCTCTCCTGAAATAATCCTT 0.458000 TSP Lung(17;0.13) 52 44 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51254756 51254756 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:51254756G>T ENST00000404971.1 - 2 1995 c.656C>A c.(655-657)gCg>gAg p.A219E NRXN1_ENST00000401669.2_Missense_Mutation_p.A219E|NRXN1_ENST00000406316.2_Missense_Mutation_p.A219E|NRXN1_ENST00000405472.3_Missense_Mutation_p.A219E|NRXN1_ENST00000402717.3_Missense_Mutation_p.A219E|NRXN1_ENST00000406859.3_Missense_Mutation_p.A219E|NRXN1_ENST00000405581.1_Missense_Mutation_p.A219E NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 219 EGF-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CTCCTCGCCCGCCTCGCACGG 0.716000 4 9 0.00909568 0.00937992 1 1 0 DCAF15 90379 broad.mit.edu 37 19 14065187 14065187 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:14065187G>C ENST00000254337.6 + 2 189 c.168G>C c.(166-168)aaG>aaC p.K56N NM_138353.2 NP_612362.2 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 56 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1) 11 TCTTCCGGAAGCTGCCTCCCC 0.672000 13 57 0 0 1 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819588 50819588 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr10:50819588G>C ENST00000374115.3 + 1 1242 c.802G>C c.(802-804)Gcg>Ccg p.A268P CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 268 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 ACCCTTCTCGGCGGCTGCACG 0.662000 14 42 0 0 1 0 0 TAS2R30 259293 broad.mit.edu 37 12 11285910 11285910 + Missense_Mutation SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:11285910T>C ENST00000539585.1 - 1 1333 c.934A>G c.(934-936)Aca>Gca p.T312A PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_001097643.1 NP_001091112.1 taste receptor, type 2, member 30 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 13 GCCCCTCTTGTGAATCTATGG 0.378000 49 80 0 0 1 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186793575 186793575 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:186793575G>A ENST00000169298.3 + 8 1879 c.1205G>A c.(1204-1206)cGg>cAg p.R402Q ST6GAL1_ENST00000448044.1_Missense_Mutation_p.R402Q|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.R171Q NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 402 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) CCTGGCTTCCGGACCATTCAC 0.512000 22 74 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50377317 50377317 + Nonsense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:50377317C>A ENST00000376020.2 - 4 1781 c.1756G>T c.(1756-1758)Gag>Tag p.E586* SHROOM4_ENST00000460112.3_Nonsense_Mutation_p.E470*|SHROOM4_ENST00000289292.7_Nonsense_Mutation_p.E586* NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 586 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) GCAAAACGCTCACTCTTCCGC 0.582000 14 52 7.93312e-07 8.78132e-07 1 1 0 CNTN2 6900 broad.mit.edu 37 1 205031676 205031676 + Missense_Mutation SNP A A T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:205031676A>T ENST00000331830.4 + 10 1503 c.1219A>T c.(1219-1221)Agc>Tgc p.S407C NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 407 Ig-like C2-type 4. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CATCTACGCCAGCGCCGAGCT 0.587000 18 34 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7576593 7576593 + Nonsense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:7576593C>A ENST00000379802.3 + 19 3038 c.2697C>A c.(2695-2697)tgC>tgA p.C899* DSP_ENST00000418664.2_Nonsense_Mutation_p.C899* NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 899 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGGCTTTCTGCAAGTGGCTCT 0.403000 29 61 1.68575e-08 1.93495e-08 1 1 0 ANGEL1 23357 broad.mit.edu 37 14 77256962 77256962 + Missense_Mutation SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr14:77256962T>C ENST00000251089.2 - 9 1956 c.1844A>G c.(1843-1845)aAc>aGc p.N615S ANGEL1_ENST00000557179.1_Missense_Mutation_p.N180S NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 615 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) ACCAGTTCTGTTCCCATTCTC 0.537000 31 68 0 0 1 0 0 ACMSD 130013 broad.mit.edu 37 2 135602814 135602814 + Nonsense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:135602814C>G ENST00000356140.5 + 2 205 c.69C>G c.(67-69)taC>taG p.Y23* ACMSD_ENST00000283054.4_5'UTR|ACMSD_ENST00000392928.1_5'UTR|AC016725.4_ENST00000392929.2_RNA NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 23 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) GGTTTGGCTACGGAGGCTGGG 0.527000 20 68 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171227265 171227265 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:171227265C>G ENST00000354841.4 + 1 170 c.39C>G c.(37-39)agC>agG p.S13R FMO1_ENST00000367750.3_Missense_Mutation_p.S13R|FMO1_ENST00000402921.2_Missense_Mutation_p.S13R|FMO1_ENST00000469112.1_3'UTR Q01740 FMO1_HUMAN flavin containing monooxygenase 1 13 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTGGGGTCAGCGGCCTGGCCT 0.572000 28 49 0 0 1 0 0 REG1A 5967 broad.mit.edu 37 2 79349974 79349974 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:79349974G>T ENST00000233735.1 + 5 432 c.329G>T c.(328-330)cGc>cTc p.R110L NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 110 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding p.R110P(1)|p.R110H(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 TAGAACCGCCGCTGGCACTGG 0.552000 32 93 1.60099e-16 2.09757e-16 1 1 0 TG 7038 broad.mit.edu 37 8 133935670 133935670 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:133935670G>T ENST00000220616.4 + 22 4656 c.4616G>T c.(4615-4617)gGg>gTg p.G1539V TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1539 Thyroglobulin type-1 11. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGGGGCAGTGGGAAGGCCTTC 0.587000 29 60 2.48779e-11 3.04064e-11 1 1 0 SLC32A1 140679 broad.mit.edu 37 20 37356657 37356657 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr20:37356657C>A ENST00000217420.1 + 2 1216 c.953C>A c.(952-954)aCg>aAg p.T318K NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 318 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TTCAGCTACACGTCTCAGATC 0.567000 22 52 1.96292e-10 2.34485e-10 1 1 0 SIGLEC12 89858 broad.mit.edu 37 19 52000204 52000204 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:52000204G>T ENST00000291707.3 - 7 1584 c.1529C>A c.(1528-1530)gCa>gAa p.A510E SIGLEC12_ENST00000598614.1_Missense_Mutation_p.A392E NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 510 cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TGCTGGCCTTGCCGATTTCTT 0.592000 33 54 1.67305e-13 2.10828e-13 1 1 0 FLG 2312 broad.mit.edu 37 1 152278979 152278979 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:152278979C>T ENST00000368799.1 - 3 8418 c.8383G>A c.(8383-8385)Gga>Aga p.G2795R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2795 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCCTTCCTCCTCTGCTTGAC 0.592000 Ichthyosis 77 424 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85724475 85724475 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:85724475G>C ENST00000322366.6 - 16 2982 c.2575C>G c.(2575-2577)Ctg>Gtg p.L859V WDFY3_ENST00000295888.4_Missense_Mutation_p.L859V|WDFY3_ENST00000512267.1_5'UTR|WDFY3-AS1_ENST00000510449.1_RNA Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 859 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ACAGAGGCCAGTAGGTCCAGC 0.443000 14 32 0 0 1 0 0 PTH 5741 broad.mit.edu 37 11 13514017 13514017 + Nonsense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr11:13514017C>A ENST00000282091.1 - 3 397 c.283G>T c.(283-285)Gaa>Taa p.E95* PTH_ENST00000529816.1_Nonsense_Mutation_p.E95* NM_000315.2 NP_000306.1 P01270 PTHY_HUMAN parathyroid hormone 95 bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development hormone activity|peptide hormone receptor binding p.E95K(1) endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836) AGACTTTTTTCATGGCTCTCA 0.438000 40 28 4.40281e-34 6.7578e-34 1 1 0 CNOT2 4848 broad.mit.edu 37 12 70724182 70724182 + Missense_Mutation SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:70724182A>G ENST00000229195.3 + 6 1081 c.502A>G c.(502-504)Aga>Gga p.R168G CNOT2_ENST00000418359.3_Missense_Mutation_p.R168G|CNOT2_ENST00000548230.1_3'UTR NM_014515.5 NP_055330.1 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 168 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) TAGCCCCAACAGAAGCTCGCC 0.448000 51 87 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31545284 31545284 + Missense_Mutation SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:31545284A>G ENST00000389082.5 - 19 3647 c.3383T>C c.(3382-3384)gTt>gCt p.V1128A DENND5B_ENST00000536562.1_Missense_Mutation_p.V1163A|DENND5B_ENST00000306833.6_Missense_Mutation_p.V1163A NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1128 RUN 2. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AAGGGCTGCAACCAGGCCATT 0.448000 12 27 0 0 1 0 0 EDIL3 10085 broad.mit.edu 37 5 83402601 83402601 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:83402601G>T ENST00000296591.5 - 6 935 c.517C>A c.(517-519)Caa>Aaa p.Q173K EDIL3_ENST00000380138.3_Missense_Mutation_p.Q163K NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 173 F5/8 type C 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) GCTGTGATTTGCTGGTTTGAT 0.393000 39 80 1.30998e-17 1.74664e-17 1 1 0 DCHS2 54798 broad.mit.edu 37 4 155237080 155237080 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:155237080C>T ENST00000357232.3 - 15 3714 c.3715G>A c.(3715-3717)Gtt>Att p.V1239I NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1239 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AGTGCCAGAACAGTCAGAATA 0.383000 12 23 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154143352 154143352 + Silent SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:154143352A>G ENST00000404039.1 + 2 692 c.105A>G c.(103-105)gcA>gcG p.A35A DPP6_ENST00000427557.1_Silent_p.A37A|DPP6_ENST00000406326.1_Silent_p.A99A|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Silent_p.A99A|DPP6_ENST00000332007.3_Silent_p.A37A NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 99 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TAGCAATTGCACTGCTTGTCA 0.458000 24 49 0 0 1 0 0 RTN1 6252 broad.mit.edu 37 14 60193939 60193939 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr14:60193939G>T ENST00000267484.5 - 3 1798 c.1463C>A c.(1462-1464)cCc>cAc p.P488H NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 488 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) CTTCATCGGGGGTGAGTCCTG 0.726000 5 6 3.59834e-05 3.8538e-05 1 1 0 E2F4 1874 broad.mit.edu 37 16 67226983 67226983 + Missense_Mutation SNP A A T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr16:67226983A>T ENST00000379378.3 + 3 376 c.317A>T c.(316-318)gAg>gTg p.E106V E2F4_ENST00000564718.1_3'UTR NM_001950.3 NP_001941.2 Q16254 E2F4_HUMAN E2F transcription factor 4, p107/p130-binding 106 Dimerization (Potential). G1 phase of mitotic cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2) 11 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325) GAGATCGAGGAGCTGCAGCAG 0.592000 6 1 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16267027 16267027 + Silent SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr22:16267027G>T ENST00000343518.6 - 9 1473 c.1422C>A c.(1420-1422)gcC>gcA p.A474A NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 474 p.A474A(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TGTCAGCAGTGGCACCGTTAG 0.408000 47 504 9.22156e-22 1.31594e-21 1 1 0 DEFB118 117285 broad.mit.edu 37 20 29960671 29960671 + Nonsense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr20:29960671G>T ENST00000253381.2 + 2 103 c.70G>T c.(70-72)Gaa>Taa p.E24* NM_054112.2 NP_473453.1 Q96PH6 DB118_HUMAN defensin, beta 118 24 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CTATAGTGGTGAAAAAAAATG 0.398000 14 38 9.31168e-06 1.00956e-05 1 1 0 CPQ 10404 broad.mit.edu 37 8 97892202 97892202 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:97892202C>T ENST00000220763.5 + 4 1028 c.818C>T c.(817-819)gCa>gTa p.A273V NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 273 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity AACACTGTAGCAGAGATCACT 0.423000 45 103 0 0 1 0 0 DTL 51514 broad.mit.edu 37 1 212274331 212274331 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:212274331G>T ENST00000366991.4 + 14 2313 c.1999G>T c.(1999-2001)Gca>Tca p.A667S DTL_ENST00000542077.1_Missense_Mutation_p.A625S|DTL_ENST00000475419.1_3'UTR NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 667 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) GTTGGCCATGGCAGCCAAACG 0.502000 18 39 1.01871e-10 1.21968e-10 1 1 0 C10orf113 387638 broad.mit.edu 37 10 21414891 21414891 + Missense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr10:21414891T>A ENST00000534331.1 - 2 379 c.329A>T c.(328-330)gAt>gTt p.D110V C10orf113_ENST00000529198.1_3'UTR|C10orf113_ENST00000377118.4_Missense_Mutation_p.D100V|NEBL_ENST00000417816.2_Intron NM_001010896.2 NP_001010896.2 Q5VZT2 CJ113_HUMAN chromosome 10 open reading frame 113 110 D -> H (in dbSNP:rs625223). endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1) 7 GTTGCCTGGATCTGGTTCAGG 0.542000 56 48 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61613155 61613155 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr17:61613155G>A ENST00000583023.1 + 6 1238 c.1227G>A c.(1225-1227)gcG>gcA p.A409A KCNH6_ENST00000580652.1_Silent_p.A409A|KCNH6_ENST00000581784.1_Silent_p.A409A|KCNH6_ENST00000456941.2_Silent_p.A409A|KCNH6_ENST00000314672.5_Silent_p.A409A NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 409 regulation of transcription, DNA-dependent|signal transduction p.A409A(1) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) GCACCTTCGCGCTCATAGCGC 0.632000 27 118 0 0 1 0 0 PTGDS 5730 broad.mit.edu 37 9 139874648 139874648 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr9:139874648C>A ENST00000224167.2 + 5 639 c.564C>A c.(562-564)acC>acA p.T188T PTGDS_ENST00000371625.3_Silent_p.T154T P41222 PTGDS_HUMAN prostaglandin D2 synthase 21kDa (brain) 154 prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GAACCCAGACCCCCAGGGCTG 0.642000 15 9 2.61681e-11 3.19094e-11 1 1 0 SLC8B1 80024 broad.mit.edu 37 12 113759145 113759145 + Silent SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:113759145C>T ENST00000552014.1 - 4 680 c.165G>A c.(163-165)aaG>aaA p.K55K SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000202831.3_Silent_p.K55K|SLC24A6_ENST00000546737.1_Silent_p.K55K Q6J4K2 NCKX6_HUMAN 55 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 GGCCACACACCTTGCGGCACT 0.557000 56 134 0 0 1 0 0 NVL 4931 broad.mit.edu 37 1 224463094 224463094 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:224463094C>A ENST00000281701.6 - 17 2288 c.2029G>T c.(2029-2031)Gtg>Ttg p.V677L NVL_ENST00000469075.1_Missense_Mutation_p.V586L|NVL_ENST00000340871.4_Missense_Mutation_p.V488L|NVL_ENST00000391875.2_Missense_Mutation_p.V571L|NVL_ENST00000361463.3_Missense_Mutation_p.V571L|NVL_ENST00000482491.1_Missense_Mutation_p.V401L NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 677 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) AAGAATATCACACAGGGTGCT 0.398000 37 66 4.62619e-21 6.53109e-21 1 1 0 CCDC70 83446 broad.mit.edu 37 13 52439979 52439979 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr13:52439979C>A ENST00000242819.4 + 2 761 c.465C>A c.(463-465)gcC>gcA p.A155A NM_031290.2 NP_112580.2 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 155 extracellular region|plasma membrane breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) AGGACAAGGCCCTGTGGGAGG 0.532000 53 36 5.22555e-25 7.75026e-25 1 1 0 SPATA31E1 286234 broad.mit.edu 37 9 90499929 90499929 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr9:90499929C>A ENST00000325643.5 + 4 593 c.527C>A c.(526-528)cCg>cAg p.P176Q NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GCCCACCAGCCGCATGGGAAA 0.642000 31 23 2.85442e-18 3.88436e-18 1 1 0 MAGEC1 9947 broad.mit.edu 37 X 140993225 140993225 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:140993225C>A ENST00000285879.4 + 4 321 c.35C>A c.(34-36)cCg>cAg p.P12Q MAGEC1_ENST00000406005.2_5'UTR NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 12 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GCTGGGATGCCGAGTCTTCTC 0.547000 HNSCC(15;0.026) 33 62 1.99505e-19 2.75036e-19 1 1 0 PPP2R3B 28227 broad.mit.edu 37 X 299616 299616 + Missense_Mutation SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:299616T>C ENST00000390665.3 - 11 1385 c.1367A>G c.(1366-1368)cAg>cGg p.Q456R NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 456 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTTCAGGTCCTGCAGCGTGAT 0.622000 29 58 0 0 1 0 0 SYNGR4 23546 broad.mit.edu 37 19 48879451 48879451 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:48879451C>A ENST00000344846.2 + 5 831 c.581C>A c.(580-582)tCt>tAt p.S194Y SYNGR4_ENST00000601610.1_3'UTR|SYNGR4_ENST00000595322.1_3'UTR NM_012451.3 NP_036583.2 O95473 SNG4_HUMAN synaptogyrin 4 194 integral to membrane breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) CCCTTGCCCTCTGCCAACAGC 0.617000 34 62 1.56442e-22 2.25072e-22 1 1 0 FER1L6 654463 broad.mit.edu 37 8 125115551 125115551 + Splice_Site SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:125115551G>C ENST00000522917.1 + 39 5495 c.e39+1 FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Splice_Site NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AGAACTCACAGTAAGTGACAG 0.443000 27 74 0 0 1 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32890617 32890617 + RNA SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr16:32890617G>T ENST00000330048.5 - 0 3181 NR_003083.2 GTACACGTTGGTGTTTTTGTA 0.617000 8 24 0.000274275 0.000287907 1 1 0 ANKRD11 29123 broad.mit.edu 37 16 89347118 89347118 + Silent SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr16:89347118G>C ENST00000301030.4 - 9 6292 c.5832C>G c.(5830-5832)acC>acG p.T1944T ANKRD11_ENST00000378330.2_Silent_p.T1944T NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1944 Pro-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CGGGCTCCTCGGTGATGACGG 0.692000 55 24 0 0 1 0 0 NUDT10 170685 broad.mit.edu 37 X 51075942 51075942 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:51075942C>A ENST00000376006.3 + 2 345 c.125C>A c.(124-126)cCg>cAg p.P42Q NUDT10_ENST00000356450.2_Missense_Mutation_p.P42Q NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 42 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) AGCCGGTACCCGGACCGCTGG 0.701000 6 16 0.248553 0.25045 1 1 0 ZCCHC5 203430 broad.mit.edu 37 X 77912561 77912561 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:77912561G>T ENST00000321110.1 - 2 1652 c.1357C>A c.(1357-1359)Cat>Aat p.H453N NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 453 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 CTGGCAAAATGACCAGGATAA 0.557000 16 43 5.03518e-11 6.05598e-11 1 1 0 PDE11A 50940 broad.mit.edu 37 2 178681604 178681604 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:178681604C>T ENST00000286063.5 - 9 2006 c.1689G>A c.(1687-1689)atG>atA p.M563I PDE11A_ENST00000449286.2_Missense_Mutation_p.M205I|PDE11A_ENST00000409504.1_Missense_Mutation_p.M205I|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.M313I|PDE11A_ENST00000389683.3_Missense_Mutation_p.M119I NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 563 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) CTTGATCATACATAATTGTGT 0.393000 Primary Pigmented Nodular Adrenocortical Disease, Familial 29 67 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42695191 42695191 + Splice_Site SNP G G T rs45501892 TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:42695191G>T ENST00000230882.4 + 5 629 c.439_splice c.e5+1 p.V147_splice GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Splice_Site_p.V125_splice NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 147 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TGATGAAATAGGTAAATCACA 0.353000 15 40 3.45872e-05 3.71935e-05 1 1 0 KLHL34 257240 broad.mit.edu 37 X 21674328 21674328 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:21674328C>A ENST00000379499.2 - 1 2120 c.1579G>T c.(1579-1581)Gct>Tct p.A527S NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 527 cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 GCAAACACAGCGCCGCGCAGC 0.647000 10 6 1.58986e-06 1.74885e-06 1 1 0 SPOP 8405 broad.mit.edu 37 17 47684716 47684716 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr17:47684716C>T ENST00000393331.3 - 10 1203 c.733G>A c.(733-735)Gat>Aat p.D245N SPOP_ENST00000503676.1_Missense_Mutation_p.D245N|SPOP_ENST00000393328.2_Missense_Mutation_p.D245N|SPOP_ENST00000347630.2_Missense_Mutation_p.D245N|SPOP_ENST00000504102.1_Missense_Mutation_p.D245N NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 245 BTB. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GGCTCCACATCATTGATTTCA 0.383000 Prostate(2;0.17) 26 62 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134025991 134025991 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:134025991C>A ENST00000220616.4 + 37 6584 c.6544C>A c.(6544-6546)Cac>Aac p.H2182N TG_ENST00000519543.1_Missense_Mutation_p.H315N|TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Missense_Mutation_p.H552N|TG_ENST00000377869.1_Missense_Mutation_p.H2125N NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2182 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGAGGCCACCCACATCTACCG 0.522000 6 27 8.12818e-05 8.61783e-05 1 1 0 FREM2 341640 broad.mit.edu 37 13 39425150 39425150 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr13:39425150G>C ENST00000280481.7 + 10 6863 c.6647G>C c.(6646-6648)cGc>cCc p.R2216P NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2216 Calx-beta 4. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GAGGAGCTCCGCCTGGTACTC 0.488000 29 42 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140953170 140953170 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr9:140953170G>A ENST00000277549.5 + 30 4615 c.2046G>A c.(2044-2046)gtG>gtA p.V682V CACNA1B_ENST00000371357.1_Silent_p.V1487V|CACNA1B_ENST00000277551.2_Silent_p.V1486V|CACNA1B_ENST00000371363.1_Silent_p.V1486V|CACNA1B_ENST00000371372.1_Silent_p.V1486V|CACNA1B_ENST00000371355.4_Silent_p.V1487V Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1486 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCAACACTGTGGTGCTGATGA 0.557000 7 11 0 0 1 0 0 VSTM2A 222008 broad.mit.edu 37 7 54614664 54614664 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:54614664C>A ENST00000302287.3 + 3 677 c.271C>A c.(271-273)Ccg>Acg p.P91T VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Missense_Mutation_p.P91T|VSTM2A_ENST00000402026.2_Missense_Mutation_p.P90T|VSTM2A_ENST00000407838.3_Missense_Mutation_p.P91T|VSTM2A_ENST00000402613.3_Missense_Mutation_p.P91T Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 91 Ig-like V-type. extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) CGACAGAGACCCGGACAGCGA 0.726000 22 532 2.48779e-11 3.04064e-11 1 1 0 ARHGAP31 57514 broad.mit.edu 37 3 119101206 119101206 + Missense_Mutation SNP G G T rs139733647 by1000genomes TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:119101206G>T ENST00000264245.4 + 5 1031 c.499G>T c.(499-501)Gcc>Tcc p.A167S NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 167 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 CAACATGCACGCCCGGAACCT 0.557000 20 98 2.39187e-15 3.11829e-15 1 1 0 CNOT1 23019 broad.mit.edu 37 16 58566252 58566252 + Silent SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr16:58566252A>G ENST00000317147.5 - 41 6275 c.5943T>C c.(5941-5943)cgT>cgC p.R1981R CNOT1_ENST00000569240.1_Silent_p.R1976R|CNOT1_ENST00000245138.4_Silent_p.R832R NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1981 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) ATTCACTCTGACGAACATCAT 0.403000 50 26 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152278978 152278978 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:152278978C>A ENST00000368799.1 - 3 8419 c.8384G>T c.(8383-8385)gGa>gTa p.G2795V FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2795 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCCTTCCTCCTCTGCTTGA 0.597000 Ichthyosis 76 423 2.10578e-59 3.34895e-59 1 1 0 GAL3ST3 89792 broad.mit.edu 37 11 65810520 65810520 + Silent SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr11:65810520G>T ENST00000312006.4 - 3 1035 c.754C>A c.(754-756)Cgg>Agg p.R252R GAL3ST3_ENST00000527878.1_Silent_p.R252R NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 252 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity p.R252W(1) kidney(1)|lung(9)|ovary(2)|skin(2) 14 AGTAGGCGCCGCAGCAGCACT 0.706000 34 21 1.21669e-08 1.40265e-08 1 1 0 DMD 1756 broad.mit.edu 37 X 31200941 31200941 + Silent SNP G G A rs146543659 TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:31200941G>A ENST00000357033.4 - 68 10094 c.9888C>T c.(9886-9888)ccC>ccT p.P3296P DMD_ENST00000359836.1_Silent_p.P836P|DMD_ENST00000378707.3_Silent_p.P836P|DMD_ENST00000378702.4_Silent_p.P228P|DMD_ENST00000343523.2_Silent_p.P836P|DMD_ENST00000378723.3_Silent_p.P228P|DMD_ENST00000378680.2_Silent_p.P228P|DMD_ENST00000361471.4_Silent_p.P228P|DMD_ENST00000541735.1_Silent_p.P836P|DMD_ENST00000378677.2_Silent_p.P3292P|DMD_ENST00000474231.1_Silent_p.P836P NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3296 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGTGCAGGACGGGCAGCCACA 0.512000 17 59 0 0 1 0 0 POLD1 5424 broad.mit.edu 37 19 50912138 50912138 + Silent SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:50912138C>T ENST00000440232.2 + 15 1925 c.1872C>T c.(1870-1872)ccC>ccT p.P624P POLD1_ENST00000599857.1_Silent_p.P624P|POLD1_ENST00000595904.1_Silent_p.P650P NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 624 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) TCCTTCGGCCCGGGACTGCAC 0.617000 DNA polymerases (catalytic subunits) 52 81 0 0 1 0 0 NSA2 10412 broad.mit.edu 37 5 74064769 74064769 + Missense_Mutation SNP A A C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:74064769A>C ENST00000296802.5 + 2 386 c.17A>C c.(16-18)tAt>tCt p.Y6S NSA2_ENST00000513356.1_3'UTR NM_014886.3 NP_055701.1 O95478 NSA2_HUMAN NSA2 ribosome biogenesis homolog (S. cerevisiae) 6 rRNA processing nucleolus|ribonucleoprotein complex breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1) 7 CAGAATGAATATATTGAATTA 0.333000 6 11 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54321016 54321016 + Nonsense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:54321016T>A ENST00000354646.2 - 8 2101 c.1663A>T c.(1663-1665)Aaa>Taa p.K555* WNK3_ENST00000375159.2_Nonsense_Mutation_p.K555*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.K555* NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 555 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 TGCTGTGGTTTTCTTTGTAGA 0.398000 8 46 0 0 1 0 0 RASA1 5921 broad.mit.edu 37 5 86686641 86686641 + Missense_Mutation SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:86686641A>G ENST00000456692.2 + 25 2669 c.2554A>G c.(2554-2556)Ata>Gta p.I852V RASA1_ENST00000506290.1_Missense_Mutation_p.I863V|RASA1_ENST00000512763.1_Missense_Mutation_p.I862V|RASA1_ENST00000274376.6_Missense_Mutation_p.I1029V NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 1029 Ras-GAP. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) GCTTCTGGCTATAACAGAACT 0.408000 21 39 0 0 1 0 0 TMEM63C 57156 broad.mit.edu 37 14 77703003 77703003 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr14:77703003C>A ENST00000298351.4 + 9 723 c.579C>A c.(577-579)ttC>ttA p.F193L NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 193 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) TGCTGTCCTTCTTCTACTTCA 0.557000 36 86 1.30998e-17 1.74664e-17 1 1 0 NPAP1 23742 broad.mit.edu 37 15 24922856 24922856 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr15:24922856G>A ENST00000329468.2 + 1 2316 c.1842G>A c.(1840-1842)ccG>ccA p.P614P NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AGAGGCACCCGGGAAAGACAT 0.478000 26 53 0 0 1 0 0 EXO1 9156 broad.mit.edu 37 1 242020758 242020758 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:242020758G>T ENST00000366548.3 + 7 1110 c.517G>T c.(517-519)Gat>Tat p.D173Y EXO1_ENST00000493702.1_3'UTR|EXO1_ENST00000518483.1_Missense_Mutation_p.D173Y|EXO1_ENST00000348581.5_Missense_Mutation_p.D173Y NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 173 I-domain.|Interaction with MSH3. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) AGAGGACTCGGATCTCCTAGC 0.428000 Editing and processing nucleases 33 72 7.63091e-17 1.00728e-16 1 1 0 CRB1 23418 broad.mit.edu 37 1 197390165 197390165 + Missense_Mutation SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:197390165T>C ENST00000367400.3 + 6 1342 c.1207T>C c.(1207-1209)Tca>Cca p.S403P CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.S291P|CRB1_ENST00000535699.1_Missense_Mutation_p.S334P|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.S403P|CRB1_ENST00000543483.1_Missense_Mutation_p.S102P NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 403 EGF-like 10; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TGAATGTTCTTCAAACCCTTG 0.348000 39 94 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30584698 30584698 + Missense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr20:30584698T>A ENST00000217299.3 + 3 1352 c.1178T>A c.(1177-1179)cTg>cAg p.L393Q NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 393 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) ATCGTCCTGCTGGAGAACGCC 0.592000 15 32 0 0 1 0 0 WEE2 494551 broad.mit.edu 37 7 141423765 141423765 + Missense_Mutation SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:141423765T>C ENST00000397541.2 + 7 1458 c.1052T>C c.(1051-1053)aTg>aCg p.M351T WEE2-AS1_ENST00000488785.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 351 Protein kinase. M -> V (in Ref. 2; AK131218). egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) TGTCACAAGATGCAAAGTGAA 0.328000 10 26 0 0 1 0 0 SP5 389058 broad.mit.edu 37 2 171573656 171573656 + Silent SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:171573656G>T ENST00000375281.3 + 2 1101 c.939G>T c.(937-939)ctG>ctT p.L313L NM_001003845.2 NP_001003845.1 Q6BEB4 SP5_HUMAN Sp5 transcription factor 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|lung(1)|prostate(1) 5 CGTCGCACCTGAAGGCGCACC 0.706000 4 10 1 1 1 1 0 SEMA3D 223117 broad.mit.edu 37 7 84628850 84628850 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:84628850C>A ENST00000284136.6 - 17 2283 c.2240G>T c.(2239-2241)gGc>gTc p.G747V SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 747 Arg/Lys-rich (basic). cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 CCACTTTGGGCCCCCCTTGTT 0.498000 28 73 4.87955e-14 6.25341e-14 1 1 0 SH3RF2 153769 broad.mit.edu 37 5 145393619 145393619 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:145393619G>C ENST00000511217.1 + 4 1106 c.1054G>C c.(1054-1056)Gga>Cga p.G352R SH3RF2_ENST00000359120.4_Missense_Mutation_p.G352R Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 352 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGCTGTGTGGGACAGGTAGG 0.507000 32 52 0 0 1 0 0 RGMB 285704 broad.mit.edu 37 5 98128960 98128960 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:98128960G>C ENST00000308234.7 + 5 1342 c.940G>C c.(940-942)Gcc>Ccc p.A314P RGMB_ENST00000513185.1_Missense_Mutation_p.A273P NM_001012761.2 NP_001012779.2 Q6NW40 RGMB_HUMAN repulsive guidance molecule family member b 273 axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 10 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) GGAGATGCACGCCCGCTATAT 0.607000 17 34 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61761091 61761091 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:61761091G>A ENST00000423902.2 + 24 5707 c.5228G>A c.(5227-5229)cGc>cAc p.R1743H CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1743 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CTGCGTGTCCGCATGCTGTAC 0.502000 11 19 0 0 1 0 0 SLC25A53 401612 broad.mit.edu 37 X 103349901 103349901 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:103349901G>T ENST00000357421.4 - 2 220 c.40C>A c.(40-42)Cac>Aac p.H14N NM_001012755.3 NP_001012773.2 Q5H9E4 MCAR6_HUMAN solute carrier family 25, member 53 14 transport integral to membrane|mitochondrial inner membrane CGCGTCCTGTGCTGAAGCTCC 0.527000 19 51 1.2644e-06 1.39666e-06 1 1 0 LMTK3 114783 broad.mit.edu 37 19 49004799 49004799 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:49004799C>A ENST00000600059.1 - 8 1042 c.815G>T c.(814-816)tGc>tTc p.C272F LMTK3_ENST00000270238.3_Missense_Mutation_p.C301F lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GGTCAGCAGGCAGTTGCGCAG 0.672000 7 16 0.000274275 0.000287907 1 1 0 TRAV12-3 28672 broad.mit.edu 37 14 22433772 22433772 + RNA SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr14:22433772T>A ENST00000390442.3 + 0 93 GGTGATCCTGTGGCTTCAGTT 0.368000 14 42 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153693822 153693822 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:153693822G>T ENST00000369682.3 + 12 2475 c.2300G>T c.(2299-2301)tGg>tTg p.W767L NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 767 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCCGTGGTCTGGGATGGAGAC 0.572000 53 82 4.32865e-36 6.74197e-36 1 1 0 VCAN 1462 broad.mit.edu 37 5 82816584 82816584 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:82816584C>A ENST00000265077.3 + 7 3024 c.2459C>A c.(2458-2460)cCt>cAt p.P820H VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.P772H|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.P820H NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 820 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TCTACAGAACCTTCAGCCTCT 0.433000 24 68 2.21704e-12 2.74144e-12 1 1 0 MAGEA11 4110 broad.mit.edu 37 X 148797311 148797311 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:148797311C>A ENST00000355220.5 + 4 342 c.240C>A c.(238-240)acC>acA p.T80T MAGEA11_ENST00000333104.4_Silent_p.T51T NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 80 cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CCAGGAGAACCCAGAGGATCA 0.502000 74 109 3.47267e-51 5.50622e-51 1 1 0 ZNF479 90827 broad.mit.edu 37 7 57194308 57194308 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:57194308C>A ENST00000331162.4 - 3 427 c.157G>T c.(157-159)Gtc>Ttc p.V53F NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 53 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CCCAGGGAGACCAGGTTTCTG 0.368000 31 253 8.4185e-14 1.07366e-13 1 1 0 ZP4 57829 broad.mit.edu 37 1 238050124 238050124 + Silent SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:238050124A>G ENST00000366570.4 - 6 944 c.786T>C c.(784-786)acT>acC p.T262T RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 262 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCACATCCCTAGTTGCCACCA 0.473000 20 67 0 0 1 0 0 ACTL7A 10881 broad.mit.edu 37 9 111625197 111625197 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr9:111625197G>A ENST00000333999.3 + 1 595 c.595G>A c.(595-597)Gcc>Acc p.A199T NM_006687.2 NP_006678.1 Q9Y615 ACL7A_HUMAN actin-like 7A 199 cytoplasm|cytoskeleton|protein complex structural constituent of cytoskeleton breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AATGCACATCGCCTACCAGTC 0.577000 31 20 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55602953 55602953 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:55602953G>T ENST00000288135.5 + 19 2760 c.2663G>T c.(2662-2664)cGg>cTg p.R888L NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 888 Protein kinase. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GAAGGCTTCCGGATGCTCAGC 0.428000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 24 54 3.7963e-18 5.13961e-18 1 1 0 HECTD4 283450 broad.mit.edu 37 12 112600979 112600979 + Silent SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:112600979C>T ENST00000550722.1 - 75 12944 c.12549G>A c.(12547-12549)gaG>gaA p.E4183E HECTD4_ENST00000430131.2_Silent_p.E3907E|HECTD4_ENST00000377560.5_Silent_p.E4157E NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 ACTTGCACAGCTCCTCCTGGG 0.617000 15 71 0 0 1 0 0 MACROD2 140733 broad.mit.edu 37 20 15918146 15918146 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr20:15918146C>A ENST00000217246.4 + 12 1259 c.864C>A c.(862-864)ccC>ccA p.P288P MACROD2_ENST00000310348.4_Silent_p.P288P|MACROD2_ENST00000378058.3_Silent_p.P53P|MACROD2_ENST00000402914.1_Silent_p.P53P NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 288 Glu-rich. p.P53P(1)|p.P288P(1) breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) TCACTGTGCCCGGCCCTGCTT 0.463000 43 86 1.47857e-17 1.96647e-17 1 1 0 FBXO38 81545 broad.mit.edu 37 5 147820769 147820769 + Silent SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:147820769C>T ENST00000340253.5 + 21 3525 c.3357C>T c.(3355-3357)ttC>ttT p.F1119F FBXO38_ENST00000394370.3_Silent_p.F1044F|FBXO38_ENST00000513826.1_Silent_p.F874F|FBXO38_ENST00000296701.6_Silent_p.F874F Q6PIJ6 FBX38_HUMAN F-box protein 38 1119 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAACAGCTTCGCTCGATACG 0.403000 38 56 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68140271 68140271 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:68140271G>A ENST00000262215.3 - 25 3907 c.3518C>T c.(3517-3519)tCa>tTa p.S1173L ARFGEF1_ENST00000518230.1_Missense_Mutation_p.S11L|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S627L NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1173 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GTTGTAATATGATATTTCTAC 0.343000 16 51 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 3991474 3991474 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:3991474G>A ENST00000404826.2 + 7 1211 c.1072G>A c.(1072-1074)Ggg>Agg p.G358R SDK1_ENST00000389531.3_Missense_Mutation_p.G358R NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 358 Ig-like C2-type 3. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CGCGGACACCGGGCCATACGT 0.607000 28 26 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146480485 146480485 + Splice_Site SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:146480485G>T ENST00000392299.2 + 3 1172 c.700_splice c.e3-1 p.G234_splice GRM1_ENST00000355289.4_Splice_Site_p.G234_splice|GRM1_ENST00000507907.1_Splice_Site_p.G234_splice|GRM1_ENST00000492807.2_Splice_Site_p.G234_splice|GRM1_ENST00000361719.2_Splice_Site_p.G234_splice|GRM1_ENST00000282753.1_Splice_Site_p.G234_splice Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 234 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TCTGGACAGGGAATTATGGGG 0.473000 22 63 1.17739e-12 1.4593e-12 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152529292 152529292 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:152529292C>T ENST00000367255.5 - 125 23240 c.22639G>A c.(22639-22641)Gtg>Atg p.V7547M SYNE1_ENST00000341594.5_Missense_Mutation_p.V7159M|SYNE1_ENST00000356820.4_Missense_Mutation_p.V2071M|SYNE1_ENST00000265368.4_Missense_Mutation_p.V7547M|SYNE1_ENST00000448038.1_Missense_Mutation_p.V7476M|SYNE1_ENST00000423061.1_Missense_Mutation_p.V7476M NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7547 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) CTGCGAATCACTCCCTGCCAT 0.473000 HNSCC(10;0.0054) 20 43 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151138711 151138711 + Missense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:151138711T>A ENST00000370325.1 - 2 273 c.220A>T c.(220-222)Atc>Ttc p.I74F GABRE_ENST00000370328.3_Missense_Mutation_p.I74F|GABRE_ENST00000393914.3_5'UTR P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 74 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GTGTTCAGGATGCGAGAGGCT 0.542000 78 109 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37026510 37026510 + Silent SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:37026510G>C ENST00000358047.3 + 1 79 c.27G>C c.(25-27)cgG>cgC p.R9R NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 9 p.R9R(2) 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 CGCAGGACCGGCCCAGTTCCC 0.657000 6 27 0 0 1 0 0 CATSPER2 117155 broad.mit.edu 37 15 43940221 43940221 + Silent SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr15:43940221G>T ENST00000396879.1 - 3 151 c.39C>A c.(37-39)ccC>ccA p.P13P STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000321596.5_Silent_p.P13P|CATSPER2_ENST00000381761.1_Silent_p.P19P|CATSPER2_ENST00000355438.2_Silent_p.P13P|CATSPER2_ENST00000464721.1_Intron|CATSPER2_ENST00000354127.4_Silent_p.P13P Q96P56 CTSR2_HUMAN cation channel, sperm associated 2 13 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) CATCAGCTCGGGGAAGCTGCA 0.488000 186 105 5.80983e-94 9.26765e-94 1 1 0 OTUD7B 56957 broad.mit.edu 37 1 149939440 149939440 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:149939440C>T ENST00000369135.3 - 4 575 c.281G>A c.(280-282)cGc>cAc p.R94H OTUD7B_ENST00000479905.1_Intron NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 94 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) CCTAGACAGGCGTTTTTCTGC 0.542000 9 31 0 0 1 0 0 XIAP 331 broad.mit.edu 37 X 123019940 123019940 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:123019940C>A ENST00000371199.3 + 2 727 c.428C>A c.(427-429)aCt>aAt p.T143N XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Missense_Mutation_p.T143N|XIAP_ENST00000355640.3_Missense_Mutation_p.T143N NM_001167.3 NP_001158.2 P98170 XIAP_HUMAN X-linked inhibitor of apoptosis 143 Interaction with caspase-7. anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus cytosol caspase inhibitor activity|ligase activity|protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3) 25 CTTTTGAGAACTGGGCAGGTT 0.428000 X-linked Lymphoproliferative syndrome 43 99 1.5731e-28 2.37994e-28 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113347703 113347703 + Splice_Site SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:113347703C>G ENST00000297405.5 - 45 7264 c.7019_splice c.e45-1 p.W2340_splice CSMD3_ENST00000352409.3_Splice_Site_p.W2270_splice|CSMD3_ENST00000455883.2_Splice_Site_p.W2236_splice|CSMD3_ENST00000343508.3_Splice_Site_p.W2300_splice NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2340 CUB 13. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTGGTCCATCCCTATGAGACA 0.368000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 31 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10304968 10304968 + Silent SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr17:10304968G>T ENST00000403437.2 - 23 2917 c.2823C>A c.(2821-2823)gcC>gcA p.A941A CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 941 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TTCTCTTCTTGGCTGTCAGCT 0.448000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 60 78 8.72158e-25 1.28631e-24 1 1 0 NXPE3 91775 broad.mit.edu 37 3 101540442 101540442 + Missense_Mutation SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:101540442A>G ENST00000422132.1 + 5 1521 c.1324A>G c.(1324-1326)Ata>Gta p.I442V NXPE3_ENST00000491511.1_Missense_Mutation_p.I442V|NXPE3_ENST00000273347.5_Missense_Mutation_p.I442V|NXPE3_ENST00000477909.1_Missense_Mutation_p.I442V neurexophilin and PC-esterase domain family, member 3 AGTGGTTGCCATAGCTGTATG 0.542000 14 49 0 0 1 0 0 PAQR5 54852 broad.mit.edu 37 15 69682054 69682054 + Missense_Mutation SNP T T G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr15:69682054T>G ENST00000340965.3 + 6 1115 c.447T>G c.(445-447)caT>caG p.H149Q PAQR5_ENST00000561027.1_3'UTR|PAQR5_ENST00000395407.2_Missense_Mutation_p.H149Q|PAQR5_ENST00000561153.1_Missense_Mutation_p.H149Q NM_001104554.1 NP_001098024.1 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V 149 cell differentiation|multicellular organismal development|oogenesis integral to membrane receptor activity|steroid binding endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1) 11 CCACTTTCCATGACTACTACG 0.592000 30 58 0 0 1 0 0 FXYD1 5348 broad.mit.edu 37 19 35631532 35631532 + Splice_Site SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:35631532C>T ENST00000588081.1 + 2 151 c.94_splice c.e2+1 p.Y31_splice FXYD1_ENST00000589209.1_Splice_Site_p.Y31_splice|FXYD1_ENST00000588715.1_Splice_Site_p.Y31_splice|FXYD1_ENST00000351325.4_Splice_Site_p.Y31_splice|FXYD1_ENST00000455515.2_Splice_Site_p.Y31_splice|CTD-2527I21.4_ENST00000592174.1_RNA|LGI4_ENST00000493050.1_Intron|FXYD1_ENST00000588607.1_Splice_Site_p.Y31_splice O00168 PLM_HUMAN FXYD domain containing ion transport regulator 1 31 muscle contraction chloride channel complex|integral to plasma membrane chloride channel activity lung(3) 3 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849) CGTTCACTTACGGTGAGCGGG 0.562000 20 52 0 0 1 0 0 RAD9B 144715 broad.mit.edu 37 12 110957688 110957688 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:110957688C>G ENST00000409246.1 + 9 966 c.641C>G c.(640-642)cCa>cGa p.P214R RAD9B_ENST00000392672.4_Missense_Mutation_p.P286R|RAD9B_ENST00000409425.1_Missense_Mutation_p.P214R|RAD9B_ENST00000409300.1_Missense_Mutation_p.P286R|RAD9B_ENST00000409778.3_Missense_Mutation_p.P217R Q6WBX8 RAD9B_HUMAN RAD9 homolog B (S. pombe) 283 cell cycle checkpoint|DNA repair|DNA replication nucleoplasm protein binding endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 7 GCATCTTCACCACAGTCACTG 0.353000 18 20 0 0 1 0 0 OR9A2 135924 broad.mit.edu 37 7 142723368 142723368 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:142723368G>A ENST00000350513.2 - 1 914 c.852C>T c.(850-852)ttC>ttT p.F284F NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) GAGTAAAGATGAAAGGATTCA 0.438000 32 69 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86772938 86772938 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:86772938C>A ENST00000373119.4 + 1 187 c.42C>A c.(40-42)atC>atA p.I14I KLHL4_ENST00000373114.4_Silent_p.I14I NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 14 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TGAAACAGATCCTAAGGCTAC 0.478000 54 123 3.28156e-27 4.90839e-27 1 1 0 CLEC1A 51267 broad.mit.edu 37 12 10223974 10223974 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:10223974C>G ENST00000315330.4 - 6 863 c.801G>C c.(799-801)gaG>gaC p.E267D CLEC1A_ENST00000457018.2_Missense_Mutation_p.E234D|CLEC1A_ENST00000420265.2_Missense_Mutation_p.E175D NM_016511.2 NP_057595.2 Q8NC01 CLC1A_HUMAN C-type lectin domain family 1, member A 267 cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 CATGGAGGCTCTCTGGCTTCA 0.517000 58 133 0 0 1 0 0 FAM98C 147965 broad.mit.edu 37 19 38894075 38894075 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:38894075G>T ENST00000252530.5 + 2 182 c.163G>T c.(163-165)Gcc>Tcc p.A55S FAM98C_ENST00000588262.1_Missense_Mutation_p.A55S|FAM98C_ENST00000343358.7_Missense_Mutation_p.A55S NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 55 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GACGCTGGGCGCCCTCGAGCA 0.766000 5 11 0.0215528 0.0219265 1 1 0 ITGAL 3683 broad.mit.edu 37 16 30515495 30515495 + Splice_Site SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr16:30515495G>A ENST00000356798.6 + 18 2325 c.e18-1 ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Splice_Site NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) ATCACCCTCAGGTATGTGTTC 0.443000 33 47 0 0 1 0 0 WNT1 7471 broad.mit.edu 37 12 49375180 49375180 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:49375180C>A ENST00000293549.3 + 4 906 c.870C>A c.(868-870)gtC>gtA p.V290V NM_005430.3 NP_005421.1 P04628 WNT1_HUMAN wingless-type MMTV integration site family, member 1 290 brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(357;0.244) ACGACCTCGTCTACTTCGAGA 0.697000 3 7 2.56e-06 2.81015e-06 1 1 0 GNL3L 54552 broad.mit.edu 37 X 54578402 54578402 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:54578402G>T ENST00000336470.4 + 12 1315 c.1176G>T c.(1174-1176)tgG>tgT p.W392C GNL3L_ENST00000360845.2_Missense_Mutation_p.W392C NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 392 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 TAGCTGACTGGGTGAGGTGAG 0.602000 10 14 2.17888e-05 2.34785e-05 1 1 0 WNT2B 7482 broad.mit.edu 37 1 113051931 113051931 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:113051931G>T ENST00000369684.4 + 1 532 c.47G>T c.(46-48)cGg>cTg p.R16L WNT2B_ENST00000256640.5_Intron|WNT2B_ENST00000369686.4_Intron NM_024494.2 NP_078613.1 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, member 2B 16 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1) 18 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTCCCGCTTCGGCGCGCCAGC 0.751000 12 7 2.80697e-09 3.2645e-09 1 1 0 DMD 1756 broad.mit.edu 37 X 32834631 32834631 + Missense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:32834631T>A ENST00000357033.4 - 6 690 c.484A>T c.(484-486)Agc>Tgc p.S162C DMD_ENST00000378677.2_Missense_Mutation_p.S158C|DMD_ENST00000288447.4_Missense_Mutation_p.S154C NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 162 Actin-binding.|CH 2. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCAGACCAGCTGGTGGTGAAG 0.413000 27 77 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32328252 32328252 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:32328252C>A ENST00000357033.4 - 42 6270 c.6064G>T c.(6064-6066)Gac>Tac p.D2022Y DMD_ENST00000378677.2_Missense_Mutation_p.D2018Y NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2022 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GCACAGAGGTCAGGAGCATTG 0.393000 34 55 4.3181e-19 5.90662e-19 1 1 0 PLEKHG5 57449 broad.mit.edu 37 1 6528448 6528448 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:6528448G>T ENST00000377748.1 - 21 3176 c.2679C>A c.(2677-2679)gaC>gaA p.D893E PLEKHG5_ENST00000544978.1_Missense_Mutation_p.D816E|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.D816E|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.D872E|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.D816E|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.D816E|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.D885E|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.D853E|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.D816E|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.D895E|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.D816E NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 872 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CGTAGGCAGAGTCCATGGAGC 0.642000 6 5 0.0215528 0.0219265 1 1 0 PNKP 11284 broad.mit.edu 37 19 50370336 50370336 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:50370336C>A ENST00000322344.3 - 2 235 c.126G>T c.(124-126)acG>acT p.T42T PNKP_ENST00000596014.1_Silent_p.T42T|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600910.1_Silent_p.T42T|PNKP_ENST00000600573.1_Silent_p.T42T NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 42 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) ACTTCCGGTCCGTAACCTGGG 0.677000 Other BER factors 30 70 8.16721e-17 1.07538e-16 1 1 0 CD207 50489 broad.mit.edu 37 2 71061009 71061009 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:71061009C>T ENST00000410009.3 - 3 378 c.333G>A c.(331-333)atG>atA p.M111I NM_015717.3 NP_056532.3 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 111 defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 TCTCATTCACCATCTGGATCT 0.478000 13 49 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5076127 5076127 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr17:5076127G>A ENST00000574788.1 + 38 6305 c.4075G>A c.(4075-4077)Gac>Aac p.D1359N USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.D1042N|USP6_ENST00000250066.6_Missense_Mutation_p.D1359N P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 1359 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AATTGACACCGACTCTGCCTA 0.428000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 47 54 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45924738 45924738 + Missense_Mutation SNP A A T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr21:45924738A>T ENST00000323084.4 - 11 1846 c.1781T>A c.(1780-1782)gTg>gAg p.V594E NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 594 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 ATCTTCTCCCACCGAGAAAAA 0.532000 36 70 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11082866 11082866 + Nonsense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:11082866G>T ENST00000304623.8 - 16 2919 c.2730C>A c.(2728-2730)tgC>tgA p.C910* CTNND2_ENST00000503622.1_Nonsense_Mutation_p.C573*|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.C477*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.C819*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.C852* NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 910 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.C910C(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TGGCCACCGCGCACACCACAC 0.527000 26 71 1.33986e-20 1.88151e-20 1 1 0 KNTC1 9735 broad.mit.edu 37 12 123087383 123087383 + Silent SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:123087383A>G ENST00000333479.7 + 47 5010 c.4833A>G c.(4831-4833)gaA>gaG p.E1611E KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Silent_p.E36E|KNTC1_ENST00000436959.3_5'UTR NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1611 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TAGCTACAGAACTCAGTGAAG 0.303000 21 56 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124335521 124335521 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:124335521C>A ENST00000409039.3 + 34 5860 c.5835C>A c.(5833-5835)ccC>ccA p.P1945P NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1945 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CGGAGCTGCCCGAGTCGGTGA 0.607000 20 46 7.45023e-12 9.19093e-12 1 1 0 TRIM60 166655 broad.mit.edu 37 4 165961346 165961346 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:165961346G>A ENST00000512596.1 + 3 338 c.122G>A c.(121-123)aGt>aAt p.S41N TRIM60_ENST00000341062.5_Missense_Mutation_p.S41N|TRIM60_ENST00000508504.1_Missense_Mutation_p.S41N NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 41 intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) TCCTGCCTCAGTGTATCCTGG 0.507000 38 79 0 0 1 0 0 TREX2 11219 broad.mit.edu 37 X 152710874 152710874 + Silent SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:152710874G>T ENST00000330912.2 - 13 1565 c.15C>A c.(13-15)ccC>ccA p.P5P TREX2_ENST00000334497.2_Silent_p.P48P|TREX2_ENST00000370231.2_Silent_p.P5P|TREX2_ENST00000402951.1_Silent_p.P48P|TREX2_ENST00000338525.2_Silent_p.P5P|TREX2_ENST00000414588.1_Silent_p.P47P|TREX2_ENST00000370232.1_Silent_p.P48P|TREX2_ENST00000393862.2_Silent_p.P5P Q9BQ50 TREX2_HUMAN three prime repair exonuclease 2 48 DNA repair nucleus 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding endometrium(4)|large_intestine(2)|lung(3)|ovary(2) 11 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCTCGGCCCGGGGTGCCTCGG 0.627000 Editing and processing nucleases 6 7 2.7689e-08 3.16445e-08 1 1 0 LAMB2 3913 broad.mit.edu 37 3 49158710 49158710 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:49158710G>A ENST00000418109.1 - 33 5510 c.5346C>T c.(5344-5346)agC>agT p.S1782S LAMB2_ENST00000305544.4_Silent_p.S1782S NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 1782 Domain I. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTTGAAGCACGCTGCGCATCC 0.577000 3 37 0 0 1 0 0 GIGYF2 26058 broad.mit.edu 37 2 233675972 233675972 + Silent SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:233675972T>C ENST00000373566.3 + 18 2180 c.1983T>C c.(1981-1983)gtT>gtC p.V661V GIGYF2_ENST00000409196.3_Silent_p.V633V|GIGYF2_ENST00000452341.2_Silent_p.V470V|GIGYF2_ENST00000373563.4_Silent_p.V639V|GIGYF2_ENST00000409451.3_Silent_p.V660V|GIGYF2_ENST00000409547.1_Silent_p.V639V|GIGYF2_ENST00000409480.1_Silent_p.V661V Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 639 Gln-rich. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) ATGCACAGGTTTTGGCCCAAC 0.423000 13 39 0 0 1 0 0 FAM114A1 92689 broad.mit.edu 37 4 38907400 38907400 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:38907400G>T ENST00000358869.2 + 6 751 c.575G>T c.(574-576)gGc>gTc p.G192V FAM114A1_ENST00000515037.1_5'UTR NM_138389.2 NP_612398.2 Q8IWE2 NXP20_HUMAN family with sequence similarity 114, member A1 192 cytoplasm haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 20 ACAGATCAGGGCCCTGCAGAA 0.488000 29 58 9.78485e-24 1.43511e-23 1 1 0 MUC16 94025 broad.mit.edu 37 19 8976318 8976318 + Silent SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:8976318G>T ENST00000397910.4 - 75 42713 c.42510C>A c.(42508-42510)acC>acA p.T14170T MUC16_ENST00000380951.5_Silent_p.T811T|MUC16_ENST00000596956.1_Intron NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14201 SEA 14. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGACACCATGGGTCAGCTGAC 0.572000 16 11 3.99206e-14 5.14099e-14 1 1 0 KIF16B 55614 broad.mit.edu 37 20 16474977 16474977 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr20:16474977C>T ENST00000354981.2 - 12 1418 c.1261G>A c.(1261-1263)Gaa>Aaa p.E421K KIF16B_ENST00000408042.1_Missense_Mutation_p.E421K|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.E421K NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 421 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TTTGTCCATTCCTTGGTCAAT 0.299000 6 31 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34164384 34164384 + Silent SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:34164384C>T ENST00000373381.4 - 24 4070 c.3894G>A c.(3892-3894)cgG>cgA p.R1298R CSMD2_ENST00000373380.1_Silent_p.R171R|CSMD2_ENST00000373388.2_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1258 CUB 8. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGTCCCAGGTCCGGCGCTCTC 0.597000 28 55 0 0 1 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806221 97806221 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:97806221G>T ENST00000358642.2 + 1 205 c.205G>T c.(205-207)Gcc>Tcc p.A69S NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 TGGTGGTTTAGCCTTTTCAGA 0.448000 101 128 9.47431e-33 1.44579e-32 1 1 0 MDN1 23195 broad.mit.edu 37 6 90438741 90438741 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:90438741C>A ENST00000369393.3 - 36 5373 c.5258G>T c.(5257-5259)gGt>gTt p.G1753V MDN1_ENST00000428876.1_Missense_Mutation_p.G1753V Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1753 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) ACCAGGGGAACCCTCCAGGAG 0.468000 27 62 1.06801e-11 1.31448e-11 1 1 0 CHST2 9435 broad.mit.edu 37 3 142840322 142840322 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:142840322G>A ENST00000309575.3 + 2 2048 c.664G>A c.(664-666)Gct>Act p.A222T NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 222 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 CATGCTGAGCGCTCTTTACCG 0.627000 28 53 0 0 1 0 0 MGAT4A 11320 broad.mit.edu 37 2 99256616 99256616 + Missense_Mutation SNP A A T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:99256616A>T ENST00000393487.1 - 11 1409 c.1096T>A c.(1096-1098)Tca>Aca p.S366T MGAT4A_ENST00000409391.1_Missense_Mutation_p.S366T|MGAT4A_ENST00000414521.2_Missense_Mutation_p.S238T|MGAT4A_ENST00000264968.2_Missense_Mutation_p.S366T NM_012214.2 NP_036346.1 Q9UM21 MGT4A_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A 366 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 GATAGTGATGAGTGCAGACCA 0.313000 13 39 0 0 1 0 0 HSH2D 84941 broad.mit.edu 37 19 16259679 16259679 + Nonsense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:16259679C>A ENST00000593154.2 + 4 650 c.119C>A c.(118-120)tCa>tAa p.S40* HSH2D_ENST00000253680.6_Nonsense_Mutation_p.S40*|HSH2D_ENST00000588246.1_Nonsense_Mutation_p.S40*|HSH2D_ENST00000397372.4_Intron NM_032855.2 NP_116244.1 Q96JZ2 HSH2D_HUMAN hematopoietic SH2 domain containing 40 SH2. cytoplasm|nucleus central_nervous_system(1)|kidney(1)|large_intestine(2) 4 GGTGCAATCTCAAGAGAGTGA 0.612000 56 60 9.53978e-28 1.43097e-27 1 1 0 PHACTR4 65979 broad.mit.edu 37 1 28815703 28815703 + Silent SNP A A C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:28815703A>C ENST00000373839.3 + 10 2043 c.1782A>C c.(1780-1782)acA>acC p.T594T PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.T604T NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 594 actin binding|protein phosphatase inhibitor activity p.T604T(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) AAAGACCAACACCAGAAGAAC 0.308000 9 36 0 0 1 0 0 C7orf66 154907 broad.mit.edu 37 7 108524212 108524212 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:108524212G>A ENST00000379007.2 - 2 254 c.200C>T c.(199-201)tCa>tTa p.S67L NM_001024607.1 NP_001019778.1 A4D0T2 CG066_HUMAN chromosome 7 open reading frame 66 67 integral to membrane p.S67*(1) breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 15 ATATTGAGCTGAGAATTCCTC 0.423000 41 102 0 0 1 0 0 LRR1 122769 broad.mit.edu 37 14 50069115 50069115 + Missense_Mutation SNP A A T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr14:50069115A>T ENST00000298288.6 + 2 535 c.211A>T c.(211-213)Acc>Tcc p.T71S LRR1_ENST00000557531.1_Intron|LRR1_ENST00000318317.4_Missense_Mutation_p.T71S NM_152329.3 NP_689542.2 Q96L50 LLR1_HUMAN leucine rich repeat protein 1 71 kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GCAATTCTTCACCAAATTTGT 0.323000 35 77 0 0 1 0 0 FPGT 8790 broad.mit.edu 37 1 74671308 74671308 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:74671308G>T ENST00000370898.2 + 4 1614 c.1577G>T c.(1576-1578)cGc>cTc p.R526L FPGT_ENST00000524915.1_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.R272L|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370893.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370894.4_3'UTR NM_001199328.1|NM_003838.3 NP_001186257.1|NP_003829.2 fucose-1-phosphate guanylyltransferase p.R526H(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 39 TGGACTGCACGCATTTTCCCA 0.388000 32 69 4.31634e-10 5.12141e-10 1 1 0 ITPKC 80271 broad.mit.edu 37 19 41223227 41223227 + Nonsense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:41223227G>T ENST00000263370.2 + 1 220 c.187G>T c.(187-189)Gag>Tag p.E63* NM_025194.2 NP_079470.1 Q96DU7 IP3KC_HUMAN inositol-trisphosphate 3-kinase C 63 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 14 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) ggcccggACAGAGGGGTCCAG 0.776000 5 12 0.014758 0.0151305 1 1 0 CDH11 1009 broad.mit.edu 37 16 65006894 65006894 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr16:65006894G>T ENST00000394156.3 - 9 1756 c.1303C>A c.(1303-1305)Cca>Aca p.P435T CDH11_ENST00000566827.1_Missense_Mutation_p.P309T|CDH11_ENST00000268603.4_Missense_Mutation_p.P435T P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 435 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CCATCCTCTGGATTAATAGTG 0.413000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 29 11 4.59853e-10 5.444e-10 1 1 0 FAM19A5 25817 broad.mit.edu 37 22 49042466 49042466 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr22:49042466C>T ENST00000358295.5 + 2 324 c.149C>T c.(148-150)cCt>cTt p.P50L FAM19A5_ENST00000402357.1_Missense_Mutation_p.P57L|FAM19A5_ENST00000473898.1_Intron NM_015381.5 NP_056196.2 Q7Z5A7 F19A5_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 57 extracellular region|integral to membrane large_intestine(1)|lung(6) 7 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) AGCAGCCAGCCTCGGAGGACG 0.672000 14 40 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117299172 117299172 + Nonsense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr11:117299172G>A ENST00000321322.6 - 33 6215 c.6214C>T c.(6214-6216)Cga>Tga p.R2072* DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.R1802* NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 2012 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CCCCCGGCTCGTGGAGGCTCG 0.751000 27 15 0 0 1 0 0 PLAC1 10761 broad.mit.edu 37 X 133700553 133700553 + Nonsense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:133700553C>A ENST00000359237.4 - 3 445 c.160G>T c.(160-162)Gaa>Taa p.E54* PLAC1_ENST00000476971.1_5'UTR NM_021796.3 NP_068568.1 Q9HBJ0 PLAC1_HUMAN placenta-specific 1 54 placenta development extracellular region large_intestine(4)|lung(1)|pancreas(1) 6 Acute lymphoblastic leukemia(192;0.000127) AAGTGTAGTTCATGAAAGTGT 0.507000 47 120 8.86878e-18 1.19153e-17 1 1 0 NRG3 10718 broad.mit.edu 37 10 84733566 84733566 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr10:84733566C>A ENST00000372142.2 + 8 918 c.644C>A c.(643-645)cCt>cAt p.P215H NRG3_ENST00000404547.1_Missense_Mutation_p.P436H|NRG3_ENST00000556918.1_Missense_Mutation_p.P266H|NRG3_ENST00000545131.1_Missense_Mutation_p.P86H|NRG3_ENST00000404576.2_Missense_Mutation_p.P240H|NRG3_ENST00000372141.2_Missense_Mutation_p.P436H|NRG3_ENST00000537893.1_Missense_Mutation_p.P86H NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 436 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GAAAGGCATCCTGTGACTGCA 0.483000 29 53 6.00712e-18 8.11192e-18 1 1 0 ITGA4 3676 broad.mit.edu 37 2 182322446 182322446 + Missense_Mutation SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:182322446T>C ENST00000397033.2 + 1 495 c.65T>C c.(64-66)cTg>cCg p.L22P ITGA4_ENST00000339307.4_Missense_Mutation_p.L22P NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 22 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ACGGTGATGCTGTTGCTGTGC 0.672000 4 15 0 0 1 0 0 TRBV7-1 28597 broad.mit.edu 37 7 142032484 142032484 + RNA SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:142032484C>A ENST00000547918.2 + 0 337 CCAGCGCACACAGCAGGGGGA 0.562000 8 22 1.12685e-05 1.21922e-05 1 1 0 WBP11P1 441818 broad.mit.edu 37 18 30093455 30093455 + RNA SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr18:30093455G>C ENST00000567636.1 + 0 1830 NR_003558.1 TTGATTCAGCGATCCAAGGTA 0.532000 114 54 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993692 140993692 + Missense_Mutation SNP A A T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:140993692A>T ENST00000285879.4 + 4 788 c.502A>T c.(502-504)Agc>Tgc p.S168C MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 168 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GATTCCTGTGAGCGCCGCCTC 0.483000 HNSCC(15;0.026) 42 121 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52724235 52724235 + Missense_Mutation SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:52724235A>G ENST00000322088.6 + 12 1425 c.1367A>G c.(1366-1368)tAt>tGt p.Y456C PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Y277C|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Y401C NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 456 PP2A subunit C binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) TCTGCAGTATATGCCATCCGC 0.532000 Mis clear cell ovarian carcinoma 29 49 0 0 1 0 0 LANCL3 347404 broad.mit.edu 37 X 37526718 37526718 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:37526718C>A ENST00000378621.3 + 4 1381 c.1079C>A c.(1078-1080)tCt>tAt p.S360Y TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378619.3_Missense_Mutation_p.S360Y NM_198511.2 NP_940913.1 Q6ZV70 LANC3_HUMAN LanC lantibiotic synthetase component C-like 3 (bacterial) 360 catalytic activity lung(4)|pancreas(1) 5 ACGGGAAACTCTAAATACATC 0.418000 16 26 6.94344e-10 8.14697e-10 1 1 0 PLCD4 84812 broad.mit.edu 37 2 219486264 219486264 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:219486264G>T ENST00000450993.2 + 5 821 c.482G>T c.(481-483)cGg>cTg p.R161L PLCD4_ENST00000432688.1_Missense_Mutation_p.R161L|PLCD4_ENST00000417849.1_Missense_Mutation_p.R161L NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 161 EF-hand 1. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GAAGTTCAGCGGTTATTGCAC 0.463000 72 174 1.49552e-23 2.18736e-23 1 1 0 CROCCP2 84809 broad.mit.edu 37 1 16945358 16945358 + RNA SNP G G C rs945905 by1000genomes TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:16945358G>C ENST00000412962.1 - 0 2161 AGTAGGAGAAGAGAGAGGAAG 0.567000 3 25 0 0 1 0 0 EMC2 9694 broad.mit.edu 37 8 109462140 109462140 + Silent SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:109462140A>G ENST00000220853.3 + 2 164 c.129A>G c.(127-129)gaA>gaG p.E43E NM_014673.3 NP_055488.1 ER membrane protein complex subunit 2 TAATTAATGAATATGCTTCTA 0.313000 25 49 0 0 1 0 0 IRF1 3659 broad.mit.edu 37 5 131819709 131819709 + Silent SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:131819709G>C ENST00000245414.4 - 10 1170 c.912C>G c.(910-912)acC>acG p.T304T IRF1_ENST00000405885.2_Silent_p.T304T NM_002198.2 NP_002189.1 P10914 IRF1_HUMAN interferon regulatory factor 1 304 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) TGTCCAGCCAGGTGGCATCCA 0.577000 15 38 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133219562 133219562 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:133219562G>A ENST00000320574.5 - 36 4615 c.4572C>T c.(4570-4572)ccC>ccT p.P1524P POLE_ENST00000535270.1_Silent_p.P1497P NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1524 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CGCCAAGGCTGGGCATCTGGT 0.672000 DNA polymerases (catalytic subunits) 3 30 0 0 1 0 0 KLF7 8609 broad.mit.edu 37 2 207988812 207988812 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:207988812G>A ENST00000309446.6 - 2 795 c.419C>T c.(418-420)tCg>tTg p.S140L KLF7_ENST00000412414.2_Missense_Mutation_p.S112L|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000421199.1_Missense_Mutation_p.S107L|KLF7_ENST00000423015.1_Missense_Mutation_p.S140L NM_003709.3 NP_003700.1 O75840 KLF7_HUMAN Kruppel-like factor 7 (ubiquitous) 140 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1) 11 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) CTCAGGGGACGATGGGGGCGT 0.597000 26 50 0 0 1 0 0 NUDT12 83594 broad.mit.edu 37 5 102888111 102888111 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:102888111G>T ENST00000230792.2 - 6 1181 c.1085C>A c.(1084-1086)aCa>aAa p.T362K NUDT12_ENST00000507423.1_Missense_Mutation_p.T344K NM_031438.2 NP_113626.1 Q9BQG2 NUD12_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 12 362 Nudix hydrolase. nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1) 12 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) ATCTTCTATTGTCTCTCCTAA 0.443000 17 39 6.94344e-10 8.14697e-10 1 1 0 SYCP2L 221711 broad.mit.edu 37 6 10931680 10931680 + Silent SNP A A T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:10931680A>T ENST00000283141.6 + 20 1937 c.1641A>T c.(1639-1641)ccA>ccT p.P547P NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 547 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TAGTCTTGCCAGTTTTCCCTC 0.398000 21 59 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22836738 22836738 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:22836738G>A ENST00000456783.2 + 3 295 c.51G>A c.(49-51)aaG>aaA p.K17K NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) CTGCCTCTAAGCCAGACCTGA 0.403000 43 73 0 0 1 0 0 SLC5A4 6527 broad.mit.edu 37 22 32633238 32633238 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr22:32633238C>T ENST00000266086.4 - 7 668 c.657G>A c.(655-657)atG>atA p.M219I RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 219 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TACCAAACCCCATGAGAATAA 0.512000 5 13 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1480884 1480884 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:1480884G>A ENST00000345913.4 + 8 937 c.846G>A c.(844-846)gcG>gcA p.A282A TPO_ENST00000337415.3_Silent_p.A282A|TPO_ENST00000382201.3_Silent_p.A282A|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000329066.4_Silent_p.A282A|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Silent_p.A282A NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 282 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGCCGGCCGCGGGCACCGCCT 0.701000 7 8 0 0 1 0 0 GPC4 2239 broad.mit.edu 37 X 132548993 132548993 + Translation_Start_Site SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:132548993T>C ENST00000370828.3 - 1 525 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 1 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) AACCGTGCCATGGTGCGGGCC 0.706000 12 29 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29393882 29393882 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr15:29393882C>A ENST00000558402.1 + 11 2018 c.1419C>A c.(1417-1419)cgC>cgA p.R473R APBA2_ENST00000558330.1_Silent_p.R461R|APBA2_ENST00000558259.1_Silent_p.R473R|APBA2_ENST00000411764.1_Silent_p.R461R|APBA2_ENST00000561069.1_Silent_p.R473R Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 473 PID. nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) TGGCCAGACGCCGCATGCCCC 0.587000 29 9 7.38237e-10 8.62365e-10 1 1 0 ZC3H11A 9877 broad.mit.edu 37 1 203819770 203819770 + Silent SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:203819770C>T ENST00000545588.1 + 15 5894 c.2067C>T c.(2065-2067)agC>agT p.S689S ZC3H11A_ENST00000367214.1_Silent_p.S689S|ZC3H11A_ENST00000332127.4_Silent_p.S689S|ZC3H11A_ENST00000367210.1_Silent_p.S689S|ZC3H11A_ENST00000367212.3_Silent_p.S689S NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 689 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) TCAGCTCCAGCAGTGTCCTAC 0.498000 29 39 0 0 1 0 0 SESN2 83667 broad.mit.edu 37 1 28598309 28598309 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:28598309G>C ENST00000253063.3 + 3 602 c.281G>C c.(280-282)tGg>tCg p.W94S NM_031459.4 NP_113647.1 P58004 SESN2_HUMAN sestrin 2 94 cell cycle arrest cytoplasm|nucleus cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) ACCAGCTTCTGGCGCCTGCAC 0.617000 27 44 0 0 1 0 0 LAMP2 3920 broad.mit.edu 37 X 119575685 119575685 + Nonsense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:119575685G>T ENST00000371335.4 - 8 1129 c.993C>A c.(991-993)tgC>tgA p.C331* LAMP2_ENST00000540603.1_Nonsense_Mutation_p.C284*|LAMP2_ENST00000200639.4_Nonsense_Mutation_p.C331*|LAMP2_ENST00000434600.2_Nonsense_Mutation_p.C331*|LAMP2_ENST00000538785.1_Nonsense_Mutation_p.C220* NM_013995.2 NP_054701.1 P13473 LAMP2_HUMAN lysosomal-associated membrane protein 2 331 Second lumenal domain. platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2) 15 GCTCTTTGTTGCACATATAAG 0.393000 21 56 8.10497e-08 9.18332e-08 1 1 0 ASPM 259266 broad.mit.edu 37 1 197072043 197072043 + Missense_Mutation SNP A A T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:197072043A>T ENST00000367409.4 - 18 6594 c.6338T>A c.(6337-6339)aTt>aAt p.I2113N ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2113 IQ 16. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CATGTGTTGAATATGTCTTCT 0.313000 64 91 0 0 1 0 0 SESN3 143686 broad.mit.edu 37 11 94918607 94918607 + Missense_Mutation SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr11:94918607T>C ENST00000536441.1 - 5 911 c.575A>G c.(574-576)cAt>cGt p.H192R SESN3_ENST00000278499.2_Missense_Mutation_p.H53R|RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.H192R|SESN3_ENST00000416495.2_Missense_Mutation_p.H192R NM_001271594.1|NM_144665.2 NP_001258523.1|NP_653266.2 P58005 SESN3_HUMAN sestrin 3 192 cell cycle arrest nucleus endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1) 16 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) GACCACAGCATGTACCAGTTC 0.388000 85 35 0 0 1 0 0 NCL 4691 broad.mit.edu 37 2 232320299 232320299 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:232320299G>A ENST00000322723.4 - 13 2109 c.1869C>T c.(1867-1869)gcC>gcT p.A623A NM_005381.2 NP_005372.2 P19338 NUCL_HUMAN nucleolin 623 RRM 4. Missing (in Ref. 2; AAA59954). angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3) 35 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) TGGCAGCTTTGGCATCCTCCT 0.463000 65 135 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 113965829 113965829 + Silent SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:113965829C>T ENST00000276198.1 + 4 890 c.162C>T c.(160-162)aaC>aaT p.N54N HTR2C_ENST00000371951.1_Silent_p.N54N|HTR2C_ENST00000371950.3_Silent_p.N54N NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 54 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) GGGTACAAAACTGGCCAGCAC 0.438000 54 97 0 0 1 0 0 GC 2638 broad.mit.edu 37 4 72629207 72629207 + Nonsense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:72629207T>A ENST00000273951.8 - 6 962 c.619A>T c.(619-621)Aaa>Taa p.K207* GC_ENST00000513476.1_Nonsense_Mutation_p.K207*|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Nonsense_Mutation_p.K226* NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 207 Albumin 1. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) GATAAATGTTTAAGCTGGAGT 0.353000 19 25 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55979531 55979531 + Missense_Mutation SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:55979531T>C ENST00000263923.4 - 7 1211 c.916A>G c.(916-918)Acc>Gcc p.T306A NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 306 Ig-like C2-type 3. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GCTGCACAGGTGTACAATCCT 0.453000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 39 77 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107332101 107332101 + Missense_Mutation SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr9:107332101A>G ENST00000335040.1 + 1 653 c.653A>G c.(652-654)tAc>tGc p.Y218C NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TCCATCTCTTACATATTTATT 0.398000 36 39 0 0 1 0 0 BTBD3 22903 broad.mit.edu 37 20 11903566 11903566 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr20:11903566G>A ENST00000405977.1 + 5 1446 c.821G>A c.(820-822)cGt>cAt p.R274H BTBD3_ENST00000399006.2_Missense_Mutation_p.R213H|BTBD3_ENST00000378226.2_Missense_Mutation_p.R274H|BTBD3_ENST00000254977.3_Missense_Mutation_p.R213H|BTBD3_ENST00000488503.1_3'UTR Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 274 breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 AGTATTCTCCGTAGGGAAACT 0.478000 28 61 0 0 1 0 0 SLC12A1 6557 broad.mit.edu 37 15 48527167 48527167 + Missense_Mutation SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr15:48527167T>C ENST00000396577.3 + 9 1396 c.1181T>C c.(1180-1182)aTt>aCt p.I394T SLC12A1_ENST00000558405.1_Missense_Mutation_p.I394T|SLC12A1_ENST00000330289.6_Missense_Mutation_p.I394T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.I394T NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 394 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GCTACTGGGATTCTTGCTGGT 0.488000 66 44 0 0 1 0 0 NLGN3 54413 broad.mit.edu 37 X 70387194 70387194 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:70387194G>A ENST00000374051.3 + 6 1509 c.1187G>A c.(1186-1188)gGg>gAg p.G396E NLGN3_ENST00000358741.3_Missense_Mutation_p.G416E|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.G376E NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 416 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) TTTGTGGAAGGGGTGGTGGAC 0.517000 25 58 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142627469 142627469 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:142627469G>C ENST00000265310.1 - 2 549 c.201C>G c.(199-201)gaC>gaG p.D67E TRPV5_ENST00000442623.1_Missense_Mutation_p.D67E NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 67 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CACAGGTGCAGTCCAGTAGAA 0.502000 19 69 0 0 1 0 0 MLN 4295 broad.mit.edu 37 6 33766918 33766918 + Silent SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:33766918C>T ENST00000430124.2 - 3 263 c.198G>A c.(196-198)gcG>gcA p.A66A MLN_ENST00000507738.1_Silent_p.A66A|MLN_ENST00000266003.5_Silent_p.A66A NM_001040109.1|NM_001184698.1|NM_002418.2 NP_001035198.1|NP_001171627.1|NP_002409.1 P12872 MOTI_HUMAN motilin 66 cell-cell signaling|G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction hormone activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1) 6 TGATGGGCTCCGCAGGGTCTA 0.517000 32 63 0 0 1 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72520125 72520125 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr10:72520125G>T ENST00000373208.1 + 22 3197 c.3197G>T c.(3196-3198)tGc>tTc p.C1066F ADAMTS14_ENST00000373207.1_Missense_Mutation_p.C1063F NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 1063 PLAC. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 GCGGAGCCCTGCACGGGAGAC 0.607000 20 45 5.03518e-11 6.05598e-11 1 1 0 FAM47C 442444 broad.mit.edu 37 X 37027084 37027084 + Nonsense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:37027084G>T ENST00000358047.3 + 1 653 c.601G>T c.(601-603)Gag>Tag p.E201* NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 201 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 TCTCCCCCCGGAGCCTCCCAA 0.637000 11 53 1.08611e-07 1.21755e-07 1 1 0 FCRL5 83416 broad.mit.edu 37 1 157514068 157514068 + Silent SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:157514068G>T ENST00000361835.3 - 5 985 c.828C>A c.(826-828)tcC>tcA p.S276S FCRL5_ENST00000368190.3_Silent_p.S276S|FCRL5_ENST00000368189.3_Silent_p.S276S|FCRL5_ENST00000368191.3_Silent_p.S191S|FCRL5_ENST00000356953.4_Silent_p.S276S NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 276 integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CCTGTATCCAGGATCTCGGGC 0.507000 88 174 9.47799e-51 1.49832e-50 1 1 0 ZNF546 339327 broad.mit.edu 37 19 40521452 40521452 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:40521452C>A ENST00000347077.4 + 7 2491 c.2275C>A c.(2275-2277)Cgt>Agt p.R759S ZNF546_ENST00000600094.1_Missense_Mutation_p.R733S|ZNF546_ENST00000596894.1_Intron NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 759 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GAATGCCTTTCGTCTTCAAGC 0.393000 28 51 7.38237e-10 8.62365e-10 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139155283 139155283 + Silent SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:139155283A>G ENST00000395297.1 - 16 3780 c.3610T>C c.(3610-3612)Ttg>Ctg p.L1204L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1204 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGGTTGTACAACTGAATGTGT 0.418000 HNSCC(54;0.14) 18 45 0 0 1 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140794191 140794191 + Silent SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:140794191G>T ENST00000398610.2 + 1 1449 c.1449G>T c.(1447-1449)ccG>ccT p.P483P PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTGGACCCGGACAGCAAAG 0.517000 39 85 3.61848e-18 4.91146e-18 1 1 0 MRGPRD 116512 broad.mit.edu 37 11 68747753 68747753 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr11:68747753G>A ENST00000309106.3 - 1 702 c.703C>T c.(703-705)Ctg>Ttg p.L235L NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 235 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CTCAGAGGCAGGGAACAGATG 0.617000 16 23 0 0 1 0 0 IL22 50616 broad.mit.edu 37 12 68647192 68647192 + Missense_Mutation SNP T T G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:68647192T>G ENST00000538666.1 - 2 107 c.37A>C c.(37-39)Atg>Ctg p.M13L IL22_ENST00000328087.4_Missense_Mutation_p.M13L Q9GZX6 IL22_HUMAN interleukin 22 13 acute-phase response extracellular space cytokine activity|interleukin-22 receptor binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 14 Myeloproliferative disorder(1001;0.0255) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104) AGGGTCCCCATAAGGAAAGAG 0.572000 24 43 0 0 1 0 0 ALPP 250 broad.mit.edu 37 2 233246339 233246339 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:233246339C>T ENST00000392027.2 + 11 1711 c.1442C>T c.(1441-1443)gCg>gTg p.A481V AC068134.8_ENST00000441266.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 481 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) ACCTTCATAGCGCACGTCATG 0.746000 9 14 0 0 1 0 0 FAM83E 54854 broad.mit.edu 37 19 49116530 49116530 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:49116530C>G ENST00000263266.3 - 1 289 c.100G>C c.(100-102)Gca>Cca p.A34P NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 34 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GCCTCCAGTGCCAGCCGCTGG 0.687000 8 13 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110477334 110477334 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:110477334C>A ENST00000378402.5 + 49 8377 c.8273C>A c.(8272-8274)tCc>tAc p.S2758Y NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2758 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGAGTGACATCCATCTCTGGA 0.483000 HNSCC(38;0.096) 28 58 2.65835e-16 3.47427e-16 1 1 0 CTNNA2 1496 broad.mit.edu 37 2 80101281 80101281 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:80101281C>T ENST00000466387.1 + 10 1389 c.665C>T c.(664-666)aCg>aTg p.T222M CTNNA2_ENST00000361291.4_Missense_Mutation_p.T256M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.T222M|CTNNA2_ENST00000402739.4_Missense_Mutation_p.T222M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T222M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.T222M P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 222 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 ATGCTGTACACGGCCTCTCAA 0.557000 23 37 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413800 72413800 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:72413800G>T ENST00000395270.1 + 14 3514 c.2473G>T c.(2473-2475)Ggc>Tgc p.G825C POM121_ENST00000358357.3_Missense_Mutation_p.G825C|POM121_ENST00000446813.1_Missense_Mutation_p.G825C|POM121_ENST00000434423.2_Missense_Mutation_p.G1090C|POM121_ENST00000257622.4_Missense_Mutation_p.G825C NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1090 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CTCGGTGTTTGGCAGCACAAC 0.647000 19 28 1.85244e-09 2.15914e-09 1 1 0 IGKV1-12 28940 broad.mit.edu 37 2 89339969 89339969 + RNA SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:89339969C>A ENST00000480492.1 - 0 149 CCTACAGATGCAGACACGGAA 0.478000 89 143 2.16659e-41 3.40464e-41 1 1 0 CCDC171 203238 broad.mit.edu 37 9 15971674 15971674 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr9:15971674G>T ENST00000380701.3 + 26 4149 c.3821G>T c.(3820-3822)gGt>gTt p.G1274V CCDC171_ENST00000486641.2_Intron NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 1274 GACACAACTGGTATTGGGGAT 0.373000 46 66 2.9001e-28 4.37501e-28 1 1 0 NKX2-2 4821 broad.mit.edu 37 20 21494104 21494104 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr20:21494104G>T ENST00000377142.4 - 1 560 c.204C>A c.(202-204)agC>agA p.S68R NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 68 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GGTTGTCGCTGCTGTCGTAGA 0.677000 14 43 6.72482e-11 8.06979e-11 1 1 0 CHIA 27159 broad.mit.edu 37 1 111862020 111862020 + Silent SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:111862020C>T ENST00000369740.1 + 11 1210 c.1107C>T c.(1105-1107)ggC>ggT p.G369G CHIA_ENST00000343320.6_Silent_p.G369G|CHIA_ENST00000353665.6_Silent_p.G208G|CHIA_ENST00000483391.1_Silent_p.G208G|CHIA_ENST00000451398.2_Silent_p.G208G|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000430615.1_Silent_p.G261G NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 369 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) ACTTCACTGGCACTTTCTGCA 0.512000 26 21 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34099403 34099403 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr20:34099403G>T ENST00000397527.1 + 35 7997 c.7277G>T c.(7276-7278)gGg>gTg p.G2426V CEP250_ENST00000342580.4_Missense_Mutation_p.G2370V NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 2426 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) ACATCCCCAGGGCCAGTCCTG 0.627000 17 34 1.62849e-17 2.16041e-17 1 1 0 NHS 4810 broad.mit.edu 37 X 17743618 17743618 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:17743618C>G ENST00000380060.3 + 6 1667 c.1329C>G c.(1327-1329)atC>atG p.I443M NHS_ENST00000398097.3_Missense_Mutation_p.I287M NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 443 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) GAAGGAGAATCAGAGCTCAAA 0.507000 70 192 0 0 1 0 0 DDO 8528 broad.mit.edu 37 6 110714093 110714093 + Missense_Mutation SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:110714093T>C ENST00000368924.3 - 5 1010 c.995A>G c.(994-996)tAt>tGt p.Y332C DDO_ENST00000368923.3_Missense_Mutation_p.Y273C|DDO_ENST00000368925.1_Missense_Mutation_p.Y304C NM_003649.2 NP_003640.2 Q99489 OXDD_HUMAN D-aspartate oxidase 304 aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) CCCATGGCCATAGTGGTGGAC 0.642000 30 67 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 10756082 10756082 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:10756082C>A ENST00000416569.2 - 3 1332 c.1306G>T c.(1306-1308)Ggg>Tgg p.G436W XKR6_ENST00000304437.2_Missense_Mutation_p.G157W NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 436 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CGAGTCCGCCCTTCCTTGACG 0.478000 29 30 3.57733e-08 4.07075e-08 1 1 0 SEC14L3 266629 broad.mit.edu 37 22 30867939 30867939 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr22:30867939C>A ENST00000215812.4 - 1 97 c.7G>T c.(7-9)Ggc>Tgc p.G3C SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR NM_174975.4 NP_777635.1 Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 3 integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) CCAACTCGGCCGCTCATGGTG 0.642000 26 58 4.06085e-26 6.0398e-26 1 1 0 COL6A6 131873 broad.mit.edu 37 3 130313165 130313165 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:130313165C>A ENST00000358511.6 + 17 4542 c.4511C>A c.(4510-4512)gCa>gAa p.A1504E COL6A6_ENST00000453409.2_Missense_Mutation_p.A1504E NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1504 Triple-helical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GACCGTGGAGCAAAGGGCCTG 0.458000 34 40 8.16277e-20 1.13122e-19 1 1 0 KIAA0100 9703 broad.mit.edu 37 17 26960084 26960084 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr17:26960084G>A ENST00000528896.2 - 20 3755 c.3681C>T c.(3679-3681)gtC>gtT p.V1227V KIAA0100_ENST00000389003.3_Silent_p.V1084V|KIAA0100_ENST00000544884.1_Silent_p.V1084V NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 1227 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CCCGCAGAGTGACACTATGGT 0.587000 15 40 0 0 1 0 0 WDR78 79819 broad.mit.edu 37 1 67327892 67327892 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:67327892C>A ENST00000371026.3 - 7 1089 c.1034G>T c.(1033-1035)aGt>aTt p.S345I WDR78_ENST00000371023.3_Missense_Mutation_p.S345I|WDR78_ENST00000493572.1_5'UTR|WDR78_ENST00000431318.1_Missense_Mutation_p.S91I NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 345 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 ATTTGCTTTACTACTTGACTC 0.338000 27 54 7.76418e-22 1.11097e-21 1 1 0 CROCC 9696 broad.mit.edu 37 1 17263238 17263238 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:17263238G>C ENST00000375541.5 + 9 1132 c.1063G>C c.(1063-1065)Gca>Cca p.A355P CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 355 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CCGGGCCGAGGCAGCCCTGGA 0.697000 3 31 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179436520 179436520 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:179436520C>A ENST00000589042.1 - 326 74563 c.74339G>T c.(74338-74340)cGa>cTa p.R24780L TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23139L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15715L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15907L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15840L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22212L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23139 Fibronectin type-III 80. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACATCTTCTCGGCAGGCGTC 0.418000 46 84 1.00776e-21 1.43422e-21 1 1 0 TECPR2 9895 broad.mit.edu 37 14 102901536 102901536 + Silent SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr14:102901536C>T ENST00000359520.7 + 9 2608 c.2382C>T c.(2380-2382)ctC>ctT p.L794L TECPR2_ENST00000558678.1_Silent_p.L794L NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 794 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 CCGGGCTGCTCAAGCCAGATC 0.532000 33 64 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22664458 22664458 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr21:22664458G>T ENST00000400546.1 + 5 765 c.516G>T c.(514-516)caG>caT p.Q172H NCAM2_ENST00000535285.1_Missense_Mutation_p.Q197H|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Missense_Mutation_p.Q30H NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 172 Ig-like C2-type 2. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) ATAACCTGCAGATTCTCAACA 0.393000 22 66 1.22574e-08 1.41e-08 1 1 0 CROCCP2 84809 broad.mit.edu 37 1 16946376 16946376 + RNA SNP G G A rs12086176 TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:16946376G>A ENST00000412962.1 - 0 1143 GGAGGCCCTCGTCATGCTCCT 0.657000 3 34 0 0 1 0 0 FZD7 8324 broad.mit.edu 37 2 202900296 202900296 + Missense_Mutation SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:202900296T>C ENST00000286201.1 + 1 987 c.926T>C c.(925-927)cTa>cCa p.L309P NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 309 axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 GGCTTCCTTCTAGAGGACCGC 0.652000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 153 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216405295 216405295 + Splice_Site SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:216405295C>G ENST00000366943.2 - 14 3379 c.2993_splice c.e14+1 p.R998_splice USH2A_ENST00000366942.3_Splice_Site_p.R998_splice|USH2A_ENST00000307340.3_Splice_Site_p.R998_splice O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 998 Laminin EGF-like 9. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAAGATGTACCTTCCAGTCTG 0.363000 HNSCC(13;0.011) 39 94 0 0 1 0 0 ZNF598 90850 broad.mit.edu 37 16 2049841 2049841 + Missense_Mutation SNP G G A rs147389225 by1000genomes TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr16:2049841G>A ENST00000563630.1 - 9 1786 c.1544C>T c.(1543-1545)aCg>aTg p.T515M ZNF598_ENST00000562103.1_Missense_Mutation_p.T515M|ZNF598_ENST00000431526.1_Missense_Mutation_p.T570M Q86UK7 ZN598_HUMAN zinc finger protein 598 570 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 GACGGAGCCCGTGGGGCGTGT 0.662000 6 18 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79031424 79031424 + Missense_Mutation SNP A A C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:79031424A>C ENST00000446378.2 + 2 6867 c.6836A>C c.(6835-6837)aAa>aCa p.K2279T NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2279 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CAACAGCCAAAATTCATTTCT 0.358000 24 53 0 0 1 0 0 PRR23B 389151 broad.mit.edu 37 3 138739295 138739295 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:138739295C>G ENST00000329447.5 - 1 473 c.209G>C c.(208-210)cGt>cCt p.R70P MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 70 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CAGGGGCACACGCAGGGCACA 0.706000 14 21 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32472928 32472928 + Missense_Mutation SNP A A T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:32472928A>T ENST00000357033.4 - 26 3660 c.3454T>A c.(3454-3456)Ttg>Atg p.L1152M DMD_ENST00000378677.2_Missense_Mutation_p.L1148M NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1152 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CCTCCCTTCAAGGCCTCCTTT 0.368000 14 61 0 0 1 0 0 HPS4 89781 broad.mit.edu 37 22 26860607 26860607 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr22:26860607C>T ENST00000398145.2 - 11 1605 c.989G>A c.(988-990)gGc>gAc p.G330D HPS4_ENST00000402105.3_Missense_Mutation_p.G325D|HPS4_ENST00000398141.1_Missense_Mutation_p.G343D|HPS4_ENST00000336873.5_Missense_Mutation_p.G330D NM_022081.4 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 330 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 CAGATCATGGCCAGACAAGCA 0.592000 Hermansky-Pudlak syndrome 27 71 0 0 1 0 0 CROT 54677 broad.mit.edu 37 7 86998753 86998753 + Silent SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:86998753T>C ENST00000331536.3 + 7 794 c.609T>C c.(607-609)ttT>ttC p.F203F CROT_ENST00000442291.1_Silent_p.F203F|CROT_ENST00000419147.2_Silent_p.F231F NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 203 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) CTTTTGTCTTTGATGTAATAC 0.433000 51 104 0 0 1 0 0 OFD1 8481 broad.mit.edu 37 X 13774855 13774855 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:13774855G>C ENST00000380567.1 + 14 1832 c.960G>C c.(958-960)gaG>gaC p.E320D OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.E460D|OFD1_ENST00000380550.3_Missense_Mutation_p.E420D O75665 OFD1_HUMAN oral-facial-digital syndrome 1 460 cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AACTGGAAGAGAGTAGAAATG 0.328000 56 90 0 0 1 0 0 NAP1L3 4675 broad.mit.edu 37 X 92928043 92928043 + Silent SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:92928043C>G ENST00000373079.3 - 1 524 c.261G>C c.(259-261)gcG>gcC p.A87A NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 87 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 GGGCCCGCCGCGCCCTTCTGG 0.577000 4 25 0 0 1 0 0 SLC30A9 10463 broad.mit.edu 37 4 41992714 41992714 + Missense_Mutation SNP T T G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:41992714T>G ENST00000264451.6 + 1 226 c.46T>G c.(46-48)Tcc>Gcc p.S16A NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 16 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATGTAGCTGGTCCTCCCTGTG 0.716000 17 30 0 0 1 0 0 CCNH 902 broad.mit.edu 37 5 86690840 86690840 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:86690840C>T ENST00000508855.1 - 7 784 c.732G>A c.(730-732)atG>atA p.M244I CCNH_ENST00000256897.4_Intron|CCNH_ENST00000504878.1_Intron P51946 CCNH_HUMAN cyclin H 0 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex protein kinase binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2) 15 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28) ACTTAGAGTTCATCTTTGGAG 0.328000 Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER) 46 63 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187521515 187521515 + Splice_Site SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:187521515C>A ENST00000441802.2 - 22 11850 c.e22-1 NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CATGATGAATCTAGGATAAAA 0.468000 HNSCC(5;0.00058) 8 7 0.000274275 0.000287907 1 1 0 FAM71F1 84691 broad.mit.edu 37 7 128355704 128355704 + Missense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:128355704T>A ENST00000315184.5 + 1 262 c.209T>A c.(208-210)cTg>cAg p.L70Q FAM71F1_ENST00000469348.1_Intron|FAM71F1_ENST00000485070.1_Intron NM_032599.2 NP_115988.1 Q96KD3 F71F1_HUMAN family with sequence similarity 71, member F1 70 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 GAATTCAACCTGTTTCTTGAC 0.527000 25 58 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124382135 124382135 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:124382135C>T ENST00000287394.5 - 7 964 c.857G>A c.(856-858)gGa>gAa p.G286E ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) ctcttcttctccatcttcttc 0.368000 5 67 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67800073 67800073 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr13:67800073C>G ENST00000544246.1 - 2 3191 c.2500G>C c.(2500-2502)Gtt>Ctt p.V834L PCDH9_ENST00000377865.2_Missense_Mutation_p.V834L|PCDH9_ENST00000328454.5_Missense_Mutation_p.V834L|PCDH9_ENST00000456367.1_Missense_Mutation_p.V834L|PCDH9_ENST00000377861.3_Missense_Mutation_p.V834L NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 834 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) CGCACCAGAACGGTGACGAAG 0.502000 34 41 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111078166 111078166 + Missense_Mutation SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:111078166A>G ENST00000262839.2 - 7 2797 c.1879T>C c.(1879-1881)Tcc>Ccc p.S627P NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 627 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AGCTGATAGGAGTTGTTCATC 0.443000 55 152 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122646772 122646772 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:122646772C>T ENST00000195173.4 - 8 1018 c.715G>A c.(715-717)Gct>Act p.A239T SEMA5B_ENST00000451055.2_Missense_Mutation_p.A293T|SEMA5B_ENST00000357599.3_Missense_Mutation_p.A239T Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 239 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GAGATGACAGCTGTGGAGTTG 0.627000 25 74 0 0 1 0 0 CUL4B 8450 broad.mit.edu 37 X 119669722 119669722 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:119669722G>C ENST00000371322.5 - 16 2184 c.2123C>G c.(2122-2124)aCc>aGc p.T708S CUL4B_ENST00000336592.6_Missense_Mutation_p.T713S|CUL4B_ENST00000404115.3_Missense_Mutation_p.T726S NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 726 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GTGTCCTAGGGTTGACTGCCA 0.348000 40 129 0 0 1 0 0 ALS2 57679 broad.mit.edu 37 2 202626021 202626021 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:202626021G>A ENST00000264276.6 - 4 1068 c.696C>T c.(694-696)tgC>tgT p.C232C ALS2_ENST00000467448.1_Silent_p.C232C NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 232 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TGCACTGGTTGCATCGTTCTG 0.493000 4 89 0 0 1 0 0 NR1H2 7376 broad.mit.edu 37 19 50881478 50881478 + Missense_Mutation SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:50881478A>G ENST00000253727.5 + 5 489 c.254A>G c.(253-255)gAg>gGg p.E85G NR1H2_ENST00000593926.1_Missense_Mutation_p.E85G|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000598168.1_Missense_Mutation_p.E85G|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000599105.1_Missense_Mutation_p.E85G NM_007121.5 NP_009052.3 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 85 negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) CTGGGCCACGAGCTTTGCCGT 0.622000 73 194 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745550 77745550 + Missense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:77745550T>A ENST00000409088.3 - 3 1859 c.1445A>T c.(1444-1446)cAg>cTg p.Q482L LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q482L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q483L|LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q483L|LRRTM4_ENST00000409093.1_Missense_Mutation_p.Q482L NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 482 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) ATAATACTCCTGTAAAGGGGA 0.478000 18 30 0 0 1 0 0 REEP2 51308 broad.mit.edu 37 5 137781192 137781192 + Missense_Mutation SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:137781192A>G ENST00000378339.2 + 7 793 c.601A>G c.(601-603)Aac>Gac p.N201D REEP2_ENST00000254901.5_Missense_Mutation_p.N199D|REEP2_ENST00000506158.1_Missense_Mutation_p.N161D NM_001271803.1 NP_001258732.1 Q9BRK0 REEP2_HUMAN receptor accessory protein 2 199 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GTCCAGCACAAACCCGGCAGA 0.577000 21 45 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46125926 46125926 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:46125926C>A ENST00000295452.4 - 1 172 c.5G>T c.(4-6)gGt>gTt p.G2V NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 2 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTTCAAAGGACCCATCGGAAT 0.507000 10 36 3.86212e-05 4.12793e-05 1 1 0 MUC21 394263 broad.mit.edu 37 6 30954218 30954218 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:30954218C>G ENST00000376296.3 + 2 507 c.266C>G c.(265-267)aCa>aGa p.T89R MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 89 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 GGGATCAGCACAGCCACCAAC 0.577000 66 175 0 0 1 0 0 TACR1 6869 broad.mit.edu 37 2 75276738 75276738 + Missense_Mutation SNP A A C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:75276738A>C ENST00000305249.4 - 5 1810 c.1045T>G c.(1045-1047)Tac>Gac p.Y349D NM_001058.3 NP_001049.1 P25103 NK1R_HUMAN tachykinin receptor 1 349 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1) 24 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) CTGACTTTGTACACACTGCCC 0.632000 27 52 0 0 1 0 0 UBE3A 7337 broad.mit.edu 37 15 25650642 25650642 + Nonsense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr15:25650642C>A ENST00000232165.3 - 4 684 c.28G>T c.(28-30)Gaa>Taa p.E10* SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Nonsense_Mutation_p.E13*|UBE3A_ENST00000438097.1_5'UTR|UBE3A_ENST00000428984.2_5'UTR|UBE3A_ENST00000566215.1_5'UTR NM_000462.3|NM_130839.2 NP_000453.2|NP_570854.1 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A 13 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) GACTGAGGTTCTCCTGATCTG 0.348000 47 79 5.34276e-22 7.66569e-22 1 1 0 IVNS1ABP 10625 broad.mit.edu 37 1 185278522 185278522 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:185278522C>A ENST00000367498.3 - 3 726 c.104G>T c.(103-105)cGa>cTa p.R35L IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.R35L NM_006469.4 NP_006460.2 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 35 BTB. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2) 29 TACCTGAAGTCGAACATCACA 0.294000 23 46 7.88262e-20 1.09527e-19 1 1 0 CYTH4 27128 broad.mit.edu 37 22 37692052 37692052 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr22:37692052G>A ENST00000248901.6 + 4 367 c.180G>A c.(178-180)caG>caA p.Q60Q CYTH4_ENST00000405206.3_Silent_p.Q60Q|CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000402997.1_Silent_p.Q60Q NM_013385.3 NP_037517.1 Q9UIA0 CYH4_HUMAN cytohesin 4 60 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 GGATGGCCCAGAAGGAGAAGG 0.632000 7 24 0 0 1 0 0 CXorf67 340602 broad.mit.edu 37 X 51150091 51150091 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:51150091G>A ENST00000342995.2 + 1 325 c.223G>A c.(223-225)Gcc>Acc p.A75T chromosome X open reading frame 67 breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1) 21 CGCCACCTCCGCCGCCATTTT 0.647000 14 22 0 0 1 0 0 PEG10 23089 broad.mit.edu 37 7 94293017 94293017 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:94293017C>A ENST00000482108.1 + 2 628 c.149C>A c.(148-150)cCc>cAc p.P50H PEG10_ENST00000488574.1_Missense_Mutation_p.P50H NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 50 apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CAAGTGGAACCCACCCCTGAG 0.582000 12 14 6.40141e-05 6.80069e-05 1 1 0 IMPG2 50939 broad.mit.edu 37 3 100992575 100992575 + Missense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:100992575T>A ENST00000193391.7 - 7 865 c.678A>T c.(676-678)gaA>gaT p.E226D NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 226 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CATTCTCAATTTCATTGCTAA 0.358000 27 62 0 0 1 0 0 DAAM2 23500 broad.mit.edu 37 6 39869801 39869801 + Silent SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:39869801G>T ENST00000538976.1 + 25 3374 c.3192G>T c.(3190-3192)cgG>cgT p.R1064R DAAM2_ENST00000274867.4_Silent_p.R1065R|DAAM2_ENST00000398904.2_Silent_p.R1065R NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 1065 actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) CAATAAACCGGCTAAATTATT 0.562000 6 29 0.248553 0.25045 1 1 0 LILRA2 11027 broad.mit.edu 37 19 55098738 55098738 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:55098738C>A ENST00000251377.3 + 9 1510 c.1377C>A c.(1375-1377)gtC>gtA p.V459V LILRA2_ENST00000391738.3_Silent_p.V459V|LILRA2_ENST00000251376.3_Silent_p.V442V|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.V430V leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CTGGCTTGGTCCTGGTGGTCC 0.562000 28 55 4.22769e-11 5.11978e-11 1 1 0 PRKCQ 5588 broad.mit.edu 37 10 6539186 6539186 + Nonsense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr10:6539186G>T ENST00000263125.5 - 6 669 c.570C>A c.(568-570)tgC>tgA p.C190* PRKCQ_ENST00000539722.1_Nonsense_Mutation_p.C65*|PRKCQ_ENST00000397176.2_Nonsense_Mutation_p.C190* NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 190 axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 ACTTACGTCGGCACTGGTAGC 0.378000 92 102 1.28662e-36 2.01583e-36 1 1 0 IQCG 84223 broad.mit.edu 37 3 197670845 197670845 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:197670845G>A ENST00000265239.6 - 4 510 c.86C>T c.(85-87)cCt>cTt p.P29L IQCG_ENST00000455191.1_Missense_Mutation_p.P29L|IQCG_ENST00000453254.1_Missense_Mutation_p.P29L|IQCG_ENST00000480302.1_5'UTR NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 29 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) TACGGTACTAGGTGGTTCGCC 0.443000 54 147 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13830263 13830263 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:13830263C>A ENST00000265104.4 - 37 6225 c.6121G>T c.(6121-6123)Gtt>Ttt p.V2041F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2041 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ACCGAGAGAACTGGTAGATCA 0.358000 Kartagener syndrome 21 46 1.00905e-13 1.28071e-13 1 1 0 TMEM171 134285 broad.mit.edu 37 5 72419619 72419619 + Nonsense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:72419619G>A ENST00000454765.2 + 2 892 c.419G>A c.(418-420)tGg>tAg p.W140* TMEM171_ENST00000287773.5_Nonsense_Mutation_p.W140* Q8WVE6 TM171_HUMAN transmembrane protein 171 140 integral to membrane endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1) 15 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115) GGCTCCAACTGGGCGCAGGAA 0.567000 50 79 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32017975 32017975 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:32017975C>A ENST00000375244.3 - 27 9440 c.9239G>T c.(9238-9240)tGg>tTg p.W3080L TNXB_ENST00000375247.2_Missense_Mutation_p.W3078L P22105 TENX_HUMAN tenascin XB 3125 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGGAACCATCCAGGACAGGCT 0.667000 38 78 1.03484e-13 1.3103e-13 1 1 0 PRICKLE3 4007 broad.mit.edu 37 X 49040166 49040166 + Silent SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:49040166G>C ENST00000536904.1 - 3 358 c.129C>G c.(127-129)tcC>tcG p.S43S PRICKLE3_ENST00000538114.1_Silent_p.S111S|PRICKLE3_ENST00000376310.3_Intron|PRICKLE3_ENST00000376317.3_Intron|PRICKLE3_ENST00000540849.1_Intron O43900 PRIC3_HUMAN prickle homolog 3 (Drosophila) 111 protein binding|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2) 22 CAGCAAGAGTGGAGGGCTGGC 0.602000 8 32 0 0 1 0 0 AKAP17A 8227 broad.mit.edu 37 X 1720350 1720350 + Missense_Mutation SNP A A T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:1720350A>T ENST00000313871.3 + 5 2147 c.1951A>T c.(1951-1953)Agc>Tgc p.S651C NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 651 Arg-rich. B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 GAGGTCCCACAGCAAAGACAG 0.736000 4 17 0 0 1 0 0 ALOX5 240 broad.mit.edu 37 10 45878011 45878011 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr10:45878011G>A ENST00000374391.2 + 2 284 c.231G>A c.(229-231)ctG>ctA p.L77L ALOX5_ENST00000542434.1_Silent_p.L77L NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 77 PLAT. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding p.L77L(1) breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) AGTACTGGCTGAATGACGACT 0.567000 26 46 0 0 1 0 0 DNM1P46 196968 broad.mit.edu 37 15 100339997 100339997 + RNA SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr15:100339997G>C ENST00000341853.1 - 0 929 NR_003260.1 GTGTCTTCTCGTTCCCACGCG 0.612000 5 51 0 0 1 0 0 RAB6B 51560 broad.mit.edu 37 3 133560157 133560157 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:133560157C>A ENST00000285208.4 - 4 610 c.261G>T c.(259-261)acG>acT p.T87T RAB6B_ENST00000486858.1_Silent_p.T74T|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Silent_p.T87T NM_016577.3 NP_057661.3 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family 87 protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|Golgi membrane GTP binding|GTPase activity|protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 CCACAGCCACCGTGGAGTCCC 0.637000 67 75 6.07461e-23 8.76337e-23 1 1 0 OR5D18 219438 broad.mit.edu 37 11 55587658 55587658 + Silent SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr11:55587658C>T ENST00000333976.4 + 1 573 c.553C>T c.(553-555)Cta>Tta p.L185L NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) GTTCTCCTCACTACTCTCCCT 0.423000 98 46 0 0 1 0 0 UNC5A 90249 broad.mit.edu 37 5 176295145 176295145 + Nonsense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:176295145G>T ENST00000329542.4 + 3 581 c.307G>T c.(307-309)Gag>Tag p.E103* UNC5A_ENST00000261961.3_Nonsense_Mutation_p.E63* NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 103 Ig-like. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCCACCATGGAGGTCCGCAT 0.642000 35 79 2.75727e-19 3.7814e-19 1 1 0 ARHGAP4 393 broad.mit.edu 37 X 153178914 153178914 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:153178914C>A ENST00000370028.3 - 10 1452 c.1395G>T c.(1393-1395)caG>caT p.Q465H ARHGAP4_ENST00000393721.1_Missense_Mutation_p.Q247H|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.Q425H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.Q402H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.Q404H NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 425 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCGGCCCGCCTGCCGGCTGC 0.692000 42 63 2.0833e-19 2.86454e-19 1 1 0 GIMAP8 155038 broad.mit.edu 37 7 150163813 150163813 + Silent SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:150163813C>T ENST00000307271.3 + 2 601 c.27C>T c.(25-27)tcC>tcT p.S9S NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 9 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GCCAGATGTCCGAACTGCGGC 0.507000 21 42 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169299609 169299609 + Nonsense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:169299609G>A ENST00000511577.1 - 33 4628 c.4381C>T c.(4381-4383)Caa>Taa p.Q1461* DDX60L_ENST00000260184.7_Nonsense_Mutation_p.Q1461* Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1461 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) ATCACATCTTGGGAAAATTGT 0.279000 3 6 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50367257 50367257 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:50367257G>T ENST00000331340.3 + 3 219 c.64G>T c.(64-66)Gat>Tat p.D22Y IKZF1_ENST00000439701.1_Missense_Mutation_p.D22Y|IKZF1_ENST00000349824.4_Missense_Mutation_p.D22Y|IKZF1_ENST00000440768.2_Missense_Mutation_p.D22Y|IKZF1_ENST00000359197.5_Missense_Mutation_p.D22Y|IKZF1_ENST00000343574.5_Missense_Mutation_p.D22Y|IKZF1_ENST00000438033.1_Missense_Mutation_p.D22Y|IKZF1_ENST00000413698.1_Missense_Mutation_p.D22Y|IKZF1_ENST00000346667.4_Missense_Mutation_p.D22Y|IKZF1_ENST00000357364.4_Missense_Mutation_p.D22Y|IKZF1_ENST00000492782.1_3'UTR NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 22 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(33) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) CCCTGTAAGCGATACTCCAGA 0.587000 """D,T""" BCL6 """ALL, DLBCL""" 72 10 8.83742e-36 1.36837e-35 1 1 0 CD163L1 283316 broad.mit.edu 37 12 7586251 7586251 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:7586251C>T ENST00000313599.3 - 3 221 c.164G>A c.(163-165)gGt>gAt p.G55D CD163L1_ENST00000416109.2_Missense_Mutation_p.G55D|CD163L1_ENST00000396630.1_Missense_Mutation_p.G55D Q9NR16 C163B_HUMAN CD163 molecule-like 1 55 SRCR 1. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AGAGCAGGGACCGTCTCCATT 0.473000 46 76 0 0 1 0 0 MS4A1 931 broad.mit.edu 37 11 60233490 60233490 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr11:60233490C>A ENST00000534668.1 + 5 722 c.433C>A c.(433-435)Cat>Aat p.H145N MS4A1_ENST00000389939.2_Missense_Mutation_p.H145N|MS4A1_ENST00000532073.1_Missense_Mutation_p.H145N|MS4A1_ENST00000345732.4_Missense_Mutation_p.H145N|MS4A1_ENST00000528313.1_Intron NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 145 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) TAAAATTTCCCATTTTTTAAA 0.333000 36 14 4.65686e-17 6.16247e-17 1 1 0 PHKA2 5256 broad.mit.edu 37 X 18956846 18956846 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:18956846C>A ENST00000379942.4 - 10 1605 c.940G>T c.(940-942)Gac>Tac p.D314Y NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 314 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) TCAGCAGGGTCATAATGCAGT 0.393000 16 54 6.31663e-08 7.17243e-08 1 1 0 SPATA31E1 286234 broad.mit.edu 37 9 90503164 90503164 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr9:90503164G>A ENST00000325643.5 + 4 3828 c.3762G>A c.(3760-3762)aaG>aaA p.K1254K NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 AGCTGGAGAAGGGACAGACAC 0.552000 29 25 0 0 1 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94540265 94540265 + Silent SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:94540265A>G ENST00000289495.5 + 1 1056 c.840A>G c.(838-840)ccA>ccG p.P280P PPP1R9A_ENST00000340694.4_Silent_p.P280P|PPP1R9A_ENST00000424654.1_Silent_p.P280P|PPP1R9A_ENST00000433881.1_Silent_p.P280P|PPP1R9A_ENST00000433360.1_Silent_p.P280P|PPP1R9A_ENST00000456331.2_Silent_p.P280P NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 280 cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) CTCCAGTACCAGAAGTGGCTT 0.478000 HNSCC(28;0.073) 23 43 0 0 1 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947505 57947505 + Missense_Mutation SNP G G C rs138122197 byFrequency TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr11:57947505G>C ENST00000335397.3 + 3 905 c.589G>C c.(589-591)Gtg>Ctg p.V197L NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) CACTCAAGAAGTGCTGATTAT 0.468000 67 35 0 0 1 0 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374293 95374293 + RNA SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:95374293G>T ENST00000494840.1 - 0 1568 NR_077228.1 CCTAGGGTTGGAATGTCAGTT 0.458000 22 53 6.44725e-10 7.61555e-10 1 1 0 RNF19A 25897 broad.mit.edu 37 8 101276908 101276908 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:101276908C>T ENST00000519449.1 - 7 1613 c.1297G>A c.(1297-1299)Gtg>Atg p.V433M RNF19A_ENST00000341084.2_Missense_Mutation_p.V433M|RNF19A_ENST00000523255.1_5'UTR NM_015435.3 NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 433 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) CCTACAGTCACTGCAGCTACT 0.363000 28 86 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80782995 80782995 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:80782995C>G ENST00000466387.1 + 16 2442 c.1718C>G c.(1717-1719)gCt>gGt p.A573G CTNNA2_ENST00000361291.4_Missense_Mutation_p.A607G|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A573G|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A573G|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A573G|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A573G|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A252G P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 573 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GTGTTGGAAGCTACAAAATTG 0.438000 32 79 0 0 1 0 0 LYRM9 201229 broad.mit.edu 37 17 26209688 26209688 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr17:26209688C>A ENST00000460380.2 - 2 93 c.33G>T c.(31-33)cgG>cgT p.R11R LYRM9_ENST00000379102.3_Silent_p.R11R|LYRM9_ENST00000379103.3_Silent_p.R11R|RP1-66C13.4_ENST00000582441.1_Silent_p.R11R|LYRM9_ENST00000508862.1_Silent_p.R11R|LYRM9_ENST00000503642.1_Silent_p.R11R LYR motif containing 9 GCAGTGGCCTCCGAACCAGTT 0.587000 8 7 1.06961e-07 1.20674e-07 1 1 0 CEP170 9859 broad.mit.edu 37 1 243354691 243354691 + Missense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:243354691T>A ENST00000366542.1 - 8 788 c.737A>T c.(736-738)aAa>aTa p.K246I CEP170_ENST00000366544.1_Missense_Mutation_p.K246I|CEP170_ENST00000366543.1_Missense_Mutation_p.K246I NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 246 centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) CTGGAATTCTTTTGTAGGGAT 0.408000 4 14 0 0 1 0 0 CYB561 1534 broad.mit.edu 37 17 61512558 61512558 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr17:61512558G>A ENST00000584031.1 - 5 798 c.499C>T c.(499-501)Ccc>Tcc p.P167S CYB561_ENST00000582034.1_Missense_Mutation_p.S122F|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000582297.1_Missense_Mutation_p.S151F|CYB561_ENST00000581573.1_Missense_Mutation_p.S151F|CYB561_ENST00000542042.1_Missense_Mutation_p.S218F|CYB561_ENST00000448884.2_Intron|CYB561_ENST00000582997.1_Missense_Mutation_p.S158F|CYB561_ENST00000392975.2_Missense_Mutation_p.S151F|CYB561_ENST00000392976.1_Missense_Mutation_p.S151F|CYB561_ENST00000360793.3_Missense_Mutation_p.S151F P49447 CY561_HUMAN cytochrome b561 0 Cytochrome b561. electron transport chain|transport integral to plasma membrane cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding lung(2)|ovary(1)|prostate(1) 4 READ - Rectum adenocarcinoma(1115;0.0689) GCTCCGCAGGGAGAATGAAGC 0.627000 28 112 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48936911 48936911 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr15:48936911G>A ENST00000316623.5 - 2 511 c.56C>T c.(55-57)tCc>tTc p.S19F FBN1_ENST00000560355.1_Missense_Mutation_p.S19F NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 19 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GCTCGTGTAGGACGCTAAAAG 0.662000 67 30 0 0 1 0 0 FTH1P3 2498 broad.mit.edu 37 5 17354524 17354524 + RNA SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:17354524G>A ENST00000511821.1 + 0 383 FTH1P10_ENST00000401830.3_RNA AGGTGGACGCGGTCGTCATGG 0.677000 13 24 0 0 1 0 0 TAS2R1 50834 broad.mit.edu 37 5 9630099 9630099 + Nonsense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:9630099G>A ENST00000382492.2 - 1 364 c.46C>T c.(46-48)Caa>Taa p.Q16* CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 16 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 AGAAGAAATTGTATCACTGCA 0.338000 17 48 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97868761 97868761 + Missense_Mutation SNP T T G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:97868761T>G ENST00000437310.1 + 1 592 c.532T>G c.(532-534)Tac>Gac p.Y178D NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 ACAACACTTTTACTGTGACAT 0.299000 88 85 0 0 1 0 0 MIR4485 100616263 broad.mit.edu 37 MT 2064 2064 + RNA SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrM:2064A>G ENST00000387347.2 + 0 394 NR_039705.1 ATTTGCCCACAGAACCCTCTA 0.388000 20 13 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80771803 80771803 + Missense_Mutation SNP T T G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:80771803T>G ENST00000458043.2 + 58 7016 c.7010T>G c.(7009-7011)aTa>aGa p.I2337R OTOGL_ENST00000547103.1_Missense_Mutation_p.I2325R|OTOGL_ENST00000546620.1_Missense_Mutation_p.I356R NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CAGGAACCCATAGACTGTACG 0.408000 6 7 0 0 1 0 0 PRKRA 8575 broad.mit.edu 37 2 179315021 179315021 + Silent SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:179315021T>A ENST00000325748.4 - 2 383 c.183A>T c.(181-183)atA>atT p.I61I PRKRA_ENST00000470200.1_5'UTR|PRKRA_ENST00000438687.3_5'UTR|PRKRA_ENST00000487082.1_Silent_p.I36I|PRKRA_ENST00000432031.2_Silent_p.I50I NM_003690.4 NP_003681.1 O75569 PRKRA_HUMAN protein kinase, interferon-inducible double stranded RNA dependent activator 61 DRBM 1.|Sufficient for self-association and interaction with TARBP2. immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus perinuclear region of cytoplasm double-stranded RNA binding|enzyme activator activity|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265) TGGGCACGTGTATTTGCACAT 0.458000 84 187 0 0 1 0 0 DPP4 1803 broad.mit.edu 37 2 162903977 162903977 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:162903977G>A ENST00000360534.3 - 3 689 c.129C>T c.(127-129)taC>taT p.Y43Y NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 43 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) CAGTTAGAGTGTAAGTTTTGC 0.338000 19 30 0 0 1 0 0 ZNF419 79744 broad.mit.edu 37 19 58004986 58004986 + Missense_Mutation SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:58004986A>G ENST00000424930.2 + 5 1293 c.1064A>G c.(1063-1065)cAc>cGc p.H355R ZNF419_ENST00000426954.2_Missense_Mutation_p.H342R|ZNF419_ENST00000415379.2_Missense_Mutation_p.H308R|ZNF419_ENST00000354197.4_Missense_Mutation_p.H342R|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000442920.2_Missense_Mutation_p.H341R|ZNF419_ENST00000221735.7_Missense_Mutation_p.H354R|ZNF419_ENST00000347466.6_Missense_Mutation_p.H322R NM_001098491.1|NM_024691.3 NP_001091961.1|NP_078967.3 Q96HQ0 ZN419_HUMAN zinc finger protein 419 354 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) TTCTATAGCCACAAGTCCAAC 0.413000 39 77 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7527898 7527898 + Nonsense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:7527898C>A ENST00000303635.7 + 6 654 c.447C>A c.(445-447)taC>taA p.Y149* CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.Y149* NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) AGTGCTTGTACGGCTGCTATG 0.542000 T WWTR1 epitheliod hemangioendothelioma 45 106 1.81118e-26 2.70142e-26 1 1 0 CEACAM20 125931 broad.mit.edu 37 19 45015211 45015211 + RNA SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:45015211C>T ENST00000454753.1 - 0 1893 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) AAGGCAGCTTCGTCTGCAAGT 0.532000 29 38 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212570 26212570 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:26212570G>A ENST00000379034.1 + 2 756 c.607G>A c.(607-609)Gcg>Acg p.A203T NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 203 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 GTGCACGTTGGCGCAATTCCT 0.473000 39 49 0 0 1 0 0 GEMIN4 50628 broad.mit.edu 37 17 650823 650823 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr17:650823C>A ENST00000576778.1 - 1 1768 c.427G>T c.(427-429)Gcc>Tcc p.A143S GEMIN4_ENST00000319004.5_Missense_Mutation_p.A154S|GEMIN4_ENST00000437269.1_Missense_Mutation_p.A154S P57678 GEMI4_HUMAN gem (nuclear organelle) associated protein 4 154 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) ACGTCTTCGGCAGAAGTGTCA 0.572000 53 49 2.29192e-23 3.3337e-23 1 1 0 MAGEC1 9947 broad.mit.edu 37 X 140993651 140993651 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:140993651C>A ENST00000285879.4 + 4 747 c.461C>A c.(460-462)cCt>cAt p.P154H MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 154 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) ACTCAAAGTCCTTTTGAGGGT 0.493000 HNSCC(15;0.026) 58 88 1.48341e-19 2.05037e-19 1 1 0 FLNA 2316 broad.mit.edu 37 X 153581217 153581217 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:153581217G>A ENST00000422373.1 - 38 6526 c.6278C>T c.(6277-6279)aCg>aTg p.T2093M FLNA_ENST00000360319.4_Missense_Mutation_p.T2093M|FLNA_ENST00000369850.3_Missense_Mutation_p.T2101M|FLNA_ENST00000344736.4_Missense_Mutation_p.T2061M|FLNA_ENST00000369856.3_Missense_Mutation_p.T234M NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 2101 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GACCCTGCACGTCCCGTCCTC 0.602000 41 74 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38939426 38939426 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:38939426G>T ENST00000359357.3 + 81 12113 c.11859G>T c.(11857-11859)caG>caT p.Q3953H DNAH8_ENST00000441566.1_Missense_Mutation_p.Q3917H|DNAH8_ENST00000449981.2_Missense_Mutation_p.Q4170H dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGCTGATTCAGATGTCAATGC 0.423000 18 41 1.00905e-13 1.28071e-13 1 1 0 KLK15 55554 broad.mit.edu 37 19 51329147 51329147 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:51329147C>A ENST00000326856.4 - 6 802 c.673G>T c.(673-675)Ggt>Tgt p.G225C KLK15_ENST00000598239.1_Missense_Mutation_p.G226C|KLK15_ENST00000416184.1_Missense_Mutation_p.G141C|KLK15_ENST00000301421.2_3'UTR|KLK15_ENST00000596931.1_3'UTR NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 226 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) GGGACGTCACCCCAGGACACA 0.557000 10 51 0.000442599 0.000463676 1 1 0 ZNF630 57232 broad.mit.edu 37 X 47918112 47918112 + Silent SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:47918112A>G ENST00000276054.4 - 5 2281 c.1347T>C c.(1345-1347)tgT>tgC p.C449C ZNF630_ENST00000409324.3_Silent_p.C573C|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Silent_p.C559C Q2M218 ZN630_HUMAN zinc finger protein 630 573 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 CACATTCACTACATTCATAGG 0.448000 9 35 0 0 1 0 0 HMGCR 3156 broad.mit.edu 37 5 74638523 74638523 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:74638523G>A ENST00000287936.4 + 2 249 c.93G>A c.(91-93)atG>atA p.M31I HMGCR_ENST00000343975.5_Missense_Mutation_p.M31I|HMGCR_ENST00000511206.1_Missense_Mutation_p.M31I NM_000859.2 NP_000850.1 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-CoA reductase 31 cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) CCATCTGCATGATGTCCATGA 0.413000 19 48 0 0 1 0 0 SAFB 6294 broad.mit.edu 37 19 5654186 5654186 + Silent SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:5654186A>G ENST00000292123.5 + 12 1748 c.1641A>G c.(1639-1641)tcA>tcG p.S547S SAFB_ENST00000538656.1_Silent_p.S390S|SAFB_ENST00000454510.1_Silent_p.S478S|SAFB_ENST00000433404.1_Silent_p.S377S|SAFB_ENST00000592224.1_Silent_p.S547S|SAFB_ENST00000588852.1_Silent_p.S547S NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 547 Interaction with POLR2A. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) CTGGCCCCTCAGAGCGATCTC 0.478000 24 25 0 0 1 0 0 CHST13 166012 broad.mit.edu 37 3 126261419 126261419 + Nonstop_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:126261419T>A ENST00000319340.2 + 3 1074 c.1024T>A c.(1024-1026)Tag>Aag p.*342K NM_152889.2 NP_690849.1 Q8NET6 CHSTD_HUMAN carbohydrate (chondroitin 4) sulfotransferase 13 0 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(114;0.151) GCGGCTGCTCTAGCGGTCCTG 0.642000 4 29 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128490862 128490862 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:128490862G>T ENST00000325888.8 + 33 5665 c.5404G>T c.(5404-5406)Gtg>Ttg p.V1802L RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.V1769L NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1802 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGCAGGAGAGGTGCGGATGCC 0.627000 37 51 1.30015e-28 1.97264e-28 1 1 0 PAPPA2 60676 broad.mit.edu 37 1 176734869 176734869 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:176734869G>C ENST00000367662.3 + 15 5383 c.4219G>C c.(4219-4221)Gtg>Ctg p.V1407L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1407 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGCTGATGTGGTGAACTGTAC 0.512000 43 87 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74004760 74004760 + Missense_Mutation SNP A A T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr17:74004760A>T ENST00000301607.3 - 22 4779 c.4526T>A c.(4525-4527)cTc>cAc p.L1509H EVPL_ENST00000586740.1_Missense_Mutation_p.L1531H NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1509 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GGCTTTCTGGAGGACGTCAAT 0.592000 39 166 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10629271 10629271 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr20:10629271C>A ENST00000254958.5 - 12 2010 c.1495G>T c.(1495-1497)Ggg>Tgg p.G499W JAG1_ENST00000423891.2_Missense_Mutation_p.G340W NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 499 EGF-like 8; calcium-binding (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 CAGTGACCCCCATTCAAACAG 0.493000 Alagille Syndrome 26 42 3.65163e-15 4.74892e-15 1 1 0 CD163L1 283316 broad.mit.edu 37 12 7585151 7585151 + Silent SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:7585151A>G ENST00000313599.3 - 4 684 c.627T>C c.(625-627)aaT>aaC p.N209N CD163L1_ENST00000416109.2_Silent_p.N219N|CD163L1_ENST00000396630.1_Silent_p.N209N Q9NR16 C163B_HUMAN CD163 molecule-like 1 209 SRCR 2. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CAGCAGGGCTATTAACAACTC 0.473000 23 44 0 0 1 0 0 EFHC2 80258 broad.mit.edu 37 X 44088978 44088978 + Silent SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:44088978T>C ENST00000420999.1 - 11 1751 c.1668A>G c.(1666-1668)gaA>gaG p.E556E NM_025184.3 NP_079460.2 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 556 calcium ion binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 ATTTTCCTTCTTCTTGCTTCA 0.373000 21 59 0 0 1 0 0 ZNF587B 100293516 broad.mit.edu 37 19 58353072 58353072 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:58353072C>A ENST00000442832.4 + 3 1264 c.1030C>A c.(1030-1032)Cat>Aat p.H344N ZNF587B_ENST00000316462.4_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.H344N|CTD-2583A14.10_ENST00000598031.1_Intron NM_001204818.1 NP_001191747.1 B4DR41 B4DR41_HUMAN zinc finger protein 587B 344 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding CCTTAAGAGTCATCAGCGCAT 0.448000 9 12 0.00621372 0.00644566 1 1 0 ZNF587B 100293516 broad.mit.edu 37 19 58353079 58353079 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:58353079G>T ENST00000442832.4 + 3 1271 c.1037G>T c.(1036-1038)cGc>cTc p.R346L ZNF587B_ENST00000316462.4_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.R346L|CTD-2583A14.10_ENST00000598031.1_Intron NM_001204818.1 NP_001191747.1 B4DR41 B4DR41_HUMAN zinc finger protein 587B 346 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding AGTCATCAGCGCATTCACACT 0.448000 6 18 3.59834e-05 3.8538e-05 1 1 0 FAM122A 116224 broad.mit.edu 37 9 71395383 71395383 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr9:71395383G>A ENST00000394264.3 + 1 420 c.303G>A c.(301-303)acG>acA p.T101T PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron NM_138333.3 NP_612206.3 Q96E09 F122A_HUMAN family with sequence similarity 122A 101 endometrium(1)|lung(2) 3 ACCGAGAGACGGTCCACGAAC 0.602000 61 59 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247597412 247597412 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:247597412C>G ENST00000366497.2 + 6 3115 c.2335C>G c.(2335-2337)Cgc>Ggc p.R779G NLRP3_ENST00000391827.2_Missense_Mutation_p.R722G|NLRP3_ENST00000366496.2_Missense_Mutation_p.R779G|NLRP3_ENST00000336119.3_Missense_Mutation_p.R779G|NLRP3_ENST00000391828.3_Missense_Mutation_p.R779G|NLRP3_ENST00000348069.2_Missense_Mutation_p.R722G NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 836 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AAGGTTGGGGCGCTGTGGCCT 0.562000 67 93 0 0 1 0 0 G6PC3 92579 broad.mit.edu 37 17 42153198 42153198 + Silent SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr17:42153198A>G ENST00000269097.4 + 6 1059 c.828A>G c.(826-828)gcA>gcG p.A276A NM_138387.3 NP_612396.1 Q9BUM1 G6PC3_HUMAN glucose 6 phosphatase, catalytic, 3 276 gluconeogenesis|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 11 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.113) TGCGTCGGGCACAGCTGGGAA 0.662000 6 69 0 0 1 0 0 DUSP13 51207 broad.mit.edu 37 10 76854571 76854571 + Missense_Mutation SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr10:76854571T>C ENST00000491677.2 - 8 1389 c.847A>G c.(847-849)Atg>Gtg p.M283V DUSP13_ENST00000605915.1_Missense_Mutation_p.M176V|DUSP13_ENST00000607131.1_Missense_Mutation_p.M247V|DUSP13_ENST00000464872.1_Missense_Mutation_p.M103V|DUSP13_ENST00000472493.2_Missense_Mutation_p.M154V|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.M204V|DUSP13_ENST00000478873.2_Missense_Mutation_p.M290V NM_001007271.1 NP_001007272.1 Q6B8I1 MDSP_HUMAN dual specificity phosphatase 13 145 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) TCACAGATCATGAGGAAGGCC 0.587000 17 33 0 0 1 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177261 89177261 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:89177261C>A ENST00000561129.2 + 1 307 c.177C>A c.(175-177)gcC>gcA p.A59A TGIF2LX_ENST00000283891.5_Silent_p.A59A Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 59 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 ACTTGCCAGCCGAGTCCGTTA 0.483000 21 45 2.81731e-10 3.35032e-10 1 1 0 APOB 338 broad.mit.edu 37 2 21242604 21242604 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:21242604C>G ENST00000233242.1 - 19 3117 c.2990G>C c.(2989-2991)gGg>gCg p.G997A NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 997 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCTGGTGTCCCCGGTCAGCGG 0.527000 15 22 0 0 1 0 0 TAS2R46 259292 broad.mit.edu 37 12 11214435 11214435 + Missense_Mutation SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:11214435T>C ENST00000533467.1 - 1 458 c.459A>G c.(457-459)atA>atG p.I153M PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176887.2 NP_795368.2 P59540 T2R46_HUMAN taste receptor, type 2, member 46 153 sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) CTTTTGTCCATATAATCTGAT 0.358000 28 59 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578457 7578457 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr17:7578457C>A ENST00000420246.2 - 5 605 c.473G>T c.(472-474)cGc>cTc p.R158L TP53_ENST00000455263.2_Missense_Mutation_p.R158L|TP53_ENST00000445888.2_Missense_Mutation_p.R158L|TP53_ENST00000269305.4_Missense_Mutation_p.R158L|TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000359597.4_Missense_Mutation_p.R158L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 158 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCCATGGCGCGGACGCGGGT 0.627000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 36 30 3.66082e-28 5.50687e-28 1 1 0 ACE2 59272 broad.mit.edu 37 X 15593813 15593813 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:15593813C>A ENST00000427411.1 - 11 1634 c.1418G>T c.(1417-1419)tGg>tTg p.W473L ACE2_ENST00000252519.3_Missense_Mutation_p.W473L NM_021804.2 NP_068576.1 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 473 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) CTTTTTCATCCACTGGTCTTT 0.393000 17 59 3.52763e-06 3.85629e-06 1 1 0 ATAD3B 83858 broad.mit.edu 37 1 1417974 1417974 + Missense_Mutation SNP C C T rs3979437 TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:1417974C>T ENST00000308647.7 + 7 846 c.730C>T c.(730-732)Cgg>Tgg p.R244W ATAD3B_ENST00000378741.3_Missense_Mutation_p.R76W|ATAD3B_ENST00000378736.2_3'UTR NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 244 ATP binding|nucleoside-triphosphatase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|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) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TGTGACAGACCGGGACAAAGT 0.587000 30 118 0 0 1 0 0 TUBE1 51175 broad.mit.edu 37 6 112392689 112392689 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:112392689G>T ENST00000368662.5 - 12 1432 c.1354C>A c.(1354-1356)Cag>Aag p.Q452K TUBE1_ENST00000604814.1_5'UTR NM_016262.4 NP_057346.1 Q9UJT0 TBE_HUMAN tubulin, epsilon 1 452 centrosome cycle|microtubule-based movement|protein polymerization microtubule|pericentriolar material GTP binding|GTPase activity|structural constituent of cytoskeleton cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 12 all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1) all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) TCATATTCCTGTATGAGTGCT 0.383000 43 84 6.68952e-21 9.41885e-21 1 1 0 TAB3 257397 broad.mit.edu 37 X 30873140 30873140 + Silent SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:30873140T>C ENST00000378933.1 - 3 819 c.642A>G c.(640-642)caA>caG p.Q214Q TAB3_ENST00000378932.2_Silent_p.Q214Q|TAB3_ENST00000378930.3_Silent_p.Q214Q|TAB3_ENST00000288422.2_Silent_p.Q214Q NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 214 Pro-rich. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27 GTGGAAGAATTTGTAAAGCTC 0.408000 11 39 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75688105 75688105 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:75688105C>T ENST00000370855.5 - 14 1139 c.1026G>A c.(1024-1026)atG>atA p.M342I SLC44A5_ENST00000370859.3_Missense_Mutation_p.M342I|SLC44A5_ENST00000535611.1_Missense_Mutation_p.M212I NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 342 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 GGAAGATCAGCATGAGGATGA 0.398000 15 39 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48789568 48789568 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr15:48789568C>A ENST00000316623.5 - 19 2643 c.2188G>T c.(2188-2190)Gat>Tat p.D730Y NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 730 EGF-like 11; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ATATCAGGATCTAGTGCACAT 0.308000 61 18 1.88225e-35 2.90593e-35 1 1 0 FZD6 8323 broad.mit.edu 37 8 104337544 104337544 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:104337544G>T ENST00000358755.4 + 4 1527 c.1210G>T c.(1210-1212)Ggc>Tgc p.G404C FZD6_ENST00000540287.1_Missense_Mutation_p.G99C|FZD6_ENST00000523739.1_Missense_Mutation_p.G372C|FZD6_ENST00000522566.1_Missense_Mutation_p.G404C NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 404 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) ACAACATGATGGCCGGAACCA 0.408000 75 130 1.64915e-30 2.50937e-30 1 1 0 STARD13 90627 broad.mit.edu 37 13 33685003 33685003 + Silent SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr13:33685003C>T ENST00000336934.5 - 11 2765 c.2649G>A c.(2647-2649)gtG>gtA p.V883V STARD13_ENST00000255486.4_Silent_p.V875V|STARD13_ENST00000399365.3_Silent_p.V765V NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 883 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) TCTCAGCCTCCACATACGAGT 0.547000 26 29 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19056269 19056269 + Silent SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr16:19056269A>G ENST00000421369.3 + 10 1629 c.1071A>G c.(1069-1071)acA>acG p.T357T TMC7_ENST00000304381.5_Silent_p.T467T|TMC7_ENST00000569532.1_Silent_p.T467T NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 467 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 CCAAGATCACATCCTGTGATG 0.572000 52 87 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182363456 182363456 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:182363456G>A ENST00000397033.2 + 15 2077 c.1647G>A c.(1645-1647)caG>caA p.Q549Q NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 549 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GAAGCATACAGGTGTCCAGCA 0.368000 28 45 0 0 1 0 0 TMEM199 147007 broad.mit.edu 37 17 26684727 26684727 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr17:26684727G>T ENST00000292114.3 + 1 124 c.34G>T c.(34-36)Gtg>Ttg p.V12L TMEM199_ENST00000581386.1_3'UTR|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Missense_Mutation_p.V12L NM_152464.1 NP_689677.1 Q8N511 TM199_HUMAN transmembrane protein 199 12 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) CGAGCGATTGGTGCGTGCTTT 0.697000 52 70 2.48254e-18 3.38703e-18 1 1 0 OR1J4 26219 broad.mit.edu 37 9 125281774 125281774 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr9:125281774G>C ENST00000340750.1 + 1 355 c.355G>C c.(355-357)Gca>Cca p.A119P NM_001004452.1 NP_001004452.1 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, member 4 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 CACTTCAATGGCATACGATCG 0.433000 39 34 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124364348 124364348 + Splice_Site SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:124364348G>A ENST00000409039.3 + 49 8305 c.8280_splice c.e49+1 p.Q2760_splice NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2760 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CTCTGTTCCAGGTGGGGATGA 0.592000 53 151 0 0 1 0 0 ZXDB 158586 broad.mit.edu 37 X 57618883 57618883 + Silent SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:57618883G>T ENST00000374888.1 + 1 615 c.402G>T c.(400-402)gcG>gcT p.A134A NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 AGAGCGGCGCGAATCCCGCGG 0.791000 5 11 1.23904e-05 1.33786e-05 1 1 0 TRBC2 28638 broad.mit.edu 37 7 142499645 142499645 + RNA SNP G G T rs1126990 TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:142499645G>T ENST00000466254.1 + 0 405 CTTCACCTCCGGTAAGTGAGT 0.507000 102 234 5.1993e-48 8.19471e-48 1 1 0 TTN 7273 broad.mit.edu 37 2 179402257 179402257 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:179402257G>T ENST00000589042.1 - 355 99901 c.99677C>A c.(99676-99678)cCt>cAt p.P33226H TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P31585H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P24161H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P24353H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P24286H|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P30658H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31585 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTCATGGCAGGTACTGGACG 0.423000 21 40 5.26018e-13 6.55041e-13 1 1 0 FNDC4 64838 broad.mit.edu 37 2 27716862 27716862 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:27716862C>A ENST00000264703.3 - 4 780 c.389G>T c.(388-390)gGg>gTg p.G130V NM_022823.2 NP_073734.1 Q9H6D8 FNDC4_HUMAN fibronectin type III domain containing 4 130 Fibronectin type-III. integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1) 9 Acute lymphoblastic leukemia(172;0.155) CACCCGGGGCCCTGGGGGACT 0.602000 29 69 3.80469e-20 5.31449e-20 1 1 0 GDPD3 79153 broad.mit.edu 37 16 30123701 30123701 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr16:30123701C>T ENST00000406256.3 - 5 786 c.409G>A c.(409-411)Gac>Aac p.D137N NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 137 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 TGGAACAGGTCCTCCAGACGA 0.602000 OREG0023731 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 72 0 0 1 0 0 METTL13 51603 broad.mit.edu 37 1 171755114 171755114 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:171755114G>T ENST00000361735.3 + 3 1275 c.1009G>T c.(1009-1011)Gcc>Tcc p.A337S METTL13_ENST00000458517.1_Missense_Mutation_p.A336S|METTL13_ENST00000362019.3_Missense_Mutation_p.A251S|METTL13_ENST00000367737.5_Missense_Mutation_p.A181S NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 337 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 GATTACAGTGGCCCTTCACCG 0.607000 8 17 1.06961e-07 1.20674e-07 1 1 0 IL13RA1 3597 broad.mit.edu 37 X 117880934 117880934 + Silent SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:117880934T>A ENST00000371666.3 + 3 313 c.246T>A c.(244-246)acT>acA p.T82T IL13RA1_ENST00000371642.1_Silent_p.T82T NM_001560.2 NP_001551.1 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 82 interleukin-13 receptor complex cytokine receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 12 CTCCGGAAACTCGTCGTTCAA 0.408000 21 65 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179447180 179447180 + Silent SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:179447180G>T ENST00000589042.1 - 314 66227 c.66003C>A c.(66001-66003)ccC>ccA p.P22001P TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Silent_p.P20360P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P12936P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.P13128P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.P13061P|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.P19433P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20360 Ig-like 115. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGCCCAGTTGGGCCTGCTTG 0.463000 16 32 9.16793e-09 1.05923e-08 1 1 0 EYA1 2138 broad.mit.edu 37 8 72156891 72156891 + Missense_Mutation SNP C C G rs121909198 TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:72156891C>G ENST00000340726.3 - 12 1726 c.1087G>C c.(1087-1089)Gaa>Caa p.E363Q EYA1_ENST00000388742.4_Missense_Mutation_p.E363Q|EYA1_ENST00000388741.2_Missense_Mutation_p.E329Q|EYA1_ENST00000419131.1_Intron|EYA1_ENST00000388740.3_Missense_Mutation_p.E330Q|EYA1_ENST00000303824.7_Missense_Mutation_p.E357Q|EYA1_ENST00000388743.2_Missense_Mutation_p.E362Q NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 363 E -> K (in anterior segment anomalies).|E -> V (in BOR1). double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) ATCATTTCTTCCATTCGCAGT 0.333000 4 20 0 0 1 0 0 BTN1A1 696 broad.mit.edu 37 6 26502016 26502016 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:26502016G>T ENST00000244513.6 + 2 344 c.278G>T c.(277-279)gGg>gTg p.G93V NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 93 Ig-like V-type 1. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 GAGTACCGCGGGCGGGCGACG 0.657000 16 23 1.3612e-06 1.50045e-06 1 1 0 SVEP1 79987 broad.mit.edu 37 9 113312290 113312290 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr9:113312290G>T ENST00000401783.2 - 2 962 c.626C>A c.(625-627)gCg>gAg p.A209E SVEP1_ENST00000302728.8_Missense_Mutation_p.A209E|SVEP1_ENST00000374469.1_Missense_Mutation_p.A186E|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.A186E NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 209 VWFA. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TCGCAGTGACGCTGCAATTGG 0.453000 36 27 1.22384e-17 1.64006e-17 1 1 0 ZC3H6 376940 broad.mit.edu 37 2 113082627 113082627 + Missense_Mutation SNP A A T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:113082627A>T ENST00000409871.1 + 11 2340 c.1939A>T c.(1939-1941)Agc>Tgc p.S647C ZC3H6_ENST00000343936.4_Missense_Mutation_p.S647C NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 647 nucleic acid binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 TGATGGCAGCAGCACTAGGAC 0.512000 17 25 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617405 77617405 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:77617405G>T ENST00000521891.2 + 2 1530 c.1082G>T c.(1081-1083)cGc>cTc p.R361L ZFHX4_ENST00000455469.2_Missense_Mutation_p.R361L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R361L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R361L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 361 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCAACCTTCCGCGGTTTATGG 0.463000 HNSCC(33;0.089) 30 65 2.81731e-10 3.35032e-10 1 1 0 CDH15 1013 broad.mit.edu 37 16 89260249 89260249 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr16:89260249G>T ENST00000289746.2 + 13 2144 c.2079G>T c.(2077-2079)caG>caT p.Q693H NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 693 adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) ATGCCCCGCAGGGCCGCCTGC 0.682000 12 5 3.27435e-08 3.73403e-08 1 1 0 USP8 9101 broad.mit.edu 37 15 50773966 50773966 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr15:50773966G>C ENST00000433963.1 + 12 2007 c.1507G>C c.(1507-1509)Gcc>Ccc p.A503P USP8_ENST00000307179.4_Missense_Mutation_p.A503P|USP8_ENST00000396444.3_Missense_Mutation_p.A503P|USP8_ENST00000425032.3_Missense_Mutation_p.A426P NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 503 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) agaacaaaaagccaaaaagaa 0.358000 4 2 0 0 1 0 0 KLHL11 55175 broad.mit.edu 37 17 40010890 40010890 + Missense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr17:40010890T>A ENST00000319121.3 - 2 1289 c.1229A>T c.(1228-1230)tAt>tTt p.Y410F NM_018143.1 NP_060613.1 Q9NVR0 KLH11_HUMAN kelch-like family member 11 410 extracellular region NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 Breast(137;0.00156) TCCAGCAACATACACGTAGGA 0.408000 57 152 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68624335 68624335 + Silent SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr15:68624335G>C ENST00000423218.2 - 14 1727 c.1632C>G c.(1630-1632)tcC>tcG p.S544S ITGA11_ENST00000315757.7_Silent_p.S544S Q9UKX5 ITA11_HUMAN integrin, alpha 11 544 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) AGGCAATGGAGGACCCAAATC 0.532000 7 15 0 0 1 0 0 SRPK2 6733 broad.mit.edu 37 7 104800965 104800965 + Missense_Mutation SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:104800965T>C ENST00000357311.3 - 6 748 c.577A>G c.(577-579)Atc>Gtc p.I193V SRPK2_ENST00000393651.3_Missense_Mutation_p.I204V|SRPK2_ENST00000489828.1_Missense_Mutation_p.I193V NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 193 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 TGTCGAATGATACTCTTCACA 0.448000 28 53 0 0 1 0 0 KBTBD3 143879 broad.mit.edu 37 11 105923675 105923675 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr11:105923675C>G ENST00000526793.1 - 3 1900 c.1741G>C c.(1741-1743)Gaa>Caa p.E581Q KBTBD3_ENST00000531837.1_Missense_Mutation_p.E581Q|KBTBD3_ENST00000534815.1_Missense_Mutation_p.E502Q NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 577 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) GGTGAAACTTCTTCCCATTCA 0.378000 10 85 0 0 1 0 0 NKAIN2 154215 broad.mit.edu 37 6 125112511 125112511 + Silent SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:125112511T>C ENST00000368417.1 + 5 561 c.501T>C c.(499-501)taT>taC p.Y167Y NKAIN2_ENST00000546092.1_Silent_p.Y100Y|NKAIN2_ENST00000545433.1_Silent_p.Y152Y NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 167 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) ACGCCTGTTATGTTGTGAAAT 0.408000 18 49 0 0 1 0 0 HIST3H2BB 128312 broad.mit.edu 37 1 228645991 228645991 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:228645991G>A ENST00000369160.2 + 1 184 c.161G>A c.(160-162)gGc>gAc p.G54D NM_175055.2 NP_778225.1 Q8N257 H2B3B_HUMAN histone cluster 3, H2bb 54 nucleosome assembly nucleosome|nucleus DNA binding p.G54D(2) skin(1) 1 Prostate(94;0.183) CCCGACACCGGCATCTCGTCC 0.587000 4 174 0 0 1 0 0 OPRM1 4988 broad.mit.edu 37 6 154414491 154414491 + Silent SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:154414491C>G ENST00000229768.5 + 4 1301 c.1251C>G c.(1249-1251)gtC>gtG p.V417V OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000330432.7_Intron|OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000434900.2_Intron NM_001008505.1 NP_001008505.2 P35372 OPRM_HUMAN opioid receptor, mu 1 0 behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) GACCTCTTGTCAGATATGACC 0.512000 68 156 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38888675 38888675 + Missense_Mutation SNP A A T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:38888675A>T ENST00000450244.1 - 26 5084 c.4886T>A c.(4885-4887)gTg>gAg p.V1629E SCN11A_ENST00000456224.3_Missense_Mutation_p.V1591E|SCN11A_ENST00000302328.3_Missense_Mutation_p.V1629E Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1629 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CTTTTCCCACACTTCATAAAA 0.418000 40 34 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146605 70146605 + Silent SNP T T C rs147283424 TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:70146605T>C ENST00000335568.5 + 1 389 c.387T>C c.(385-387)gaT>gaC p.D129D UGT2B28_ENST00000511240.1_Silent_p.D129D NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 129 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) TCTGTAAAGATGTAGTTTCAA 0.338000 33 70 0 0 1 0 0 ERV3-1 2086 broad.mit.edu 37 7 64452411 64452411 + Missense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:64452411T>A ENST00000394323.2 - 2 1494 c.994A>T c.(994-996)Agc>Tgc p.S332C NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN 332 virion breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 aaccagatgctctgacttgat 0.473000 17 28 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42489324 42489324 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:42489324C>A ENST00000545399.1 - 8 931 c.778G>T c.(778-780)Gtg>Ttg p.V260L ATP1A3_ENST00000543770.1_Missense_Mutation_p.V258L|ATP1A3_ENST00000602133.1_Missense_Mutation_p.V217L|ATP1A3_ENST00000302102.5_Missense_Mutation_p.V247L NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 247 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 GCCACCACCACGCCCCGAGCC 0.677000 11 20 1.08611e-07 1.21755e-07 1 1 0 KIF26A 26153 broad.mit.edu 37 14 104640061 104640061 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr14:104640061G>T ENST00000315264.7 + 9 1847 c.1469G>T c.(1468-1470)cGc>cTc p.R490L KIF26A_ENST00000423312.2_Missense_Mutation_p.R629L Q9ULI4 KI26A_HUMAN kinesin family member 26A 629 Kinesin-motor. blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GGCCGCAGCCGCCTGCACCTC 0.697000 8 17 0.000157383 0.000166197 1 1 0 ASH1L 55870 broad.mit.edu 37 1 155313242 155313242 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:155313242C>G ENST00000368346.3 - 24 8810 c.8171G>C c.(8170-8172)cGt>cCt p.R2724P ASH1L_ENST00000392403.3_Missense_Mutation_p.R2719P Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2724 BAH. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTCGTGGGGACGGAAATAATG 0.463000 19 64 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3265578 3265578 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:3265578G>A ENST00000520002.1 - 15 2472 c.1917C>T c.(1915-1917)ctC>ctT p.L639L CSMD1_ENST00000539096.1_Silent_p.L638L|CSMD1_ENST00000537824.1_Silent_p.L638L|CSMD1_ENST00000602723.1_Silent_p.L639L|CSMD1_ENST00000400186.3_Silent_p.L639L|CSMD1_ENST00000602557.1_Silent_p.L639L|CSMD1_ENST00000542608.1_Silent_p.L638L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 639 CUB 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCTTGACCGCGAGAAAGTCAA 0.458000 12 20 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 69281720 69281720 + Splice_Site SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr10:69281720C>A ENST00000433211.1 - 5 634 c.e5-1 CTNNA3_ENST00000545309.1_Splice_Site|CTNNA3_ENST00000373744.4_Splice_Site NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TCCTTTGAAACTGAAATTGAA 0.378000 19 44 5.03518e-11 6.05598e-11 1 1 0 DLG3 1741 broad.mit.edu 37 X 69671762 69671762 + Missense_Mutation SNP T T G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:69671762T>G ENST00000194900.4 + 8 1426 c.1085T>G c.(1084-1086)cTg>cGg p.L362R DLG3_ENST00000374360.3_Missense_Mutation_p.L344R Q92796 DLG3_HUMAN discs, large homolog 3 (Drosophila) 344 axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1) 22 Renal(35;0.156) AATTCCAGCCTGGGTTATCTC 0.552000 OREG0019853 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 33 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52284441 52284441 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:52284441C>A ENST00000356297.4 - 19 3993 c.3893G>T c.(3892-3894)tGc>tTc p.C1298F PXDNL_ENST00000543296.1_Missense_Mutation_p.C1298F NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1298 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ACCTGCACAGCAGTCTTGCCA 0.458000 10 23 7.48243e-07 8.29984e-07 1 1 0 P2RX2 22953 broad.mit.edu 37 12 133195507 133195507 + Splice_Site SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:133195507G>A ENST00000352418.4 + 1 105 c.105_splice c.e1+1 p.V35_splice P2RX2_ENST00000449132.2_Silent_p.V35V|P2RX2_ENST00000389110.3_Silent_p.V35V|P2RX2_ENST00000351222.4_Splice_Site_p.V35_splice|P2RX2_ENST00000350048.5_Silent_p.V35V|P2RX2_ENST00000348800.5_Silent_p.V35V|P2RX2_ENST00000343948.4_Silent_p.V35V NM_012226.3 NP_036358.2 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X, ligand-gated ion channel, 2 35 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3) 20 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) AGGTGATCGTGGTGAGGAACC 0.756000 11 23 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176664955 176664955 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:176664955G>A ENST00000367662.3 + 7 3870 c.2706G>A c.(2704-2706)gtG>gtA p.V902V NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 902 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCCGGCGGGTGTGTGACTCCT 0.552000 28 60 0 0 1 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146070764 146070764 + Missense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:146070764T>A ENST00000394413.3 - 4 944 c.374A>T c.(373-375)aAg>aTg p.K125M PPP2R2B_ENST00000394409.3_Missense_Mutation_p.K183M|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.K125M|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.K131M|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.K114M|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.K125M|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.K114M|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.K125M|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.K191M|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.K128M Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 125 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCTGGCCTCTTATCACGCTC 0.512000 33 44 0 0 1 0 0 ZNF582 147948 broad.mit.edu 37 19 56895481 56895481 + Nonsense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:56895481G>T ENST00000301310.4 - 5 1463 c.1305C>A c.(1303-1305)tgC>tgA p.C435* ZNF582_ENST00000586929.1_Nonsense_Mutation_p.C435* NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 435 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) TCAATTGTGAGCAATGACTAA 0.393000 34 72 2.20474e-14 2.84621e-14 1 1 0 MLLT6 4302 broad.mit.edu 37 17 36881840 36881840 + Nonsense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr17:36881840G>T ENST00000325718.7 + 20 3362 c.3271G>T c.(3271-3273)Gaa>Taa p.E1091* NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 1091 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) AGCCAACCAGGAAAAAGGCTA 0.607000 T MLL AL 10 18 0.010729 0.0110428 1 1 0 MCF2 4168 broad.mit.edu 37 X 138679741 138679741 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:138679741G>T ENST00000520602.1 - 21 2398 c.2113C>A c.(2113-2115)Cta>Ata p.L705I MCF2_ENST00000370573.4_Missense_Mutation_p.L645I|MCF2_ENST00000370576.4_Missense_Mutation_p.L645I|MCF2_ENST00000536274.1_Missense_Mutation_p.L606I|MCF2_ENST00000370578.4_Missense_Mutation_p.L790I|MCF2_ENST00000519895.1_Missense_Mutation_p.L721I|MCF2_ENST00000338585.6_Missense_Mutation_p.L661I|MCF2_ENST00000414978.1_Missense_Mutation_p.L705I P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 645 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TATTTTAATAGCTCCTGTAAT 0.343000 21 38 2.08468e-23 3.04063e-23 1 1 0 TOX2 84969 broad.mit.edu 37 20 42679949 42679949 + Nonsense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr20:42679949C>T ENST00000358131.5 + 4 650 c.442C>T c.(442-444)Cag>Tag p.Q148* TOX2_ENST00000435864.2_Nonsense_Mutation_p.Q17*|TOX2_ENST00000372999.1_Nonsense_Mutation_p.Q97*|TOX2_ENST00000341197.3_Nonsense_Mutation_p.Q139*|TOX2_ENST00000423191.1_Nonsense_Mutation_p.Q97* NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CTCTTAGATCCAGGAGATGGT 0.612000 21 65 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66928653 66928653 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr17:66928653G>A ENST00000269080.2 - 6 710 c.573C>T c.(571-573)atC>atT p.I191I ABCA8_ENST00000430352.2_Silent_p.I191I|ABCA8_ENST00000586539.1_Silent_p.I191I NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 191 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GATTTGTTGTGATCTGAAGAA 0.348000 50 36 0 0 1 0 0 LHX9 56956 broad.mit.edu 37 1 197890558 197890558 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:197890558C>G ENST00000367390.3 + 4 502 c.475C>G c.(475-477)Ctg>Gtg p.L159V LHX9_ENST00000367387.4_Missense_Mutation_p.L168V|LHX9_ENST00000337020.2_Missense_Mutation_p.L168V|LHX9_ENST00000561173.1_Missense_Mutation_p.L174V|LHX9_ENST00000367391.1_Missense_Mutation_p.L159V NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 168 LIM zinc-binding 2. motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 CAACAAGACTCTGACCACGGG 0.602000 25 62 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127597489 127597489 + Missense_Mutation SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:127597489T>C ENST00000508053.1 - 70 9277 c.8303A>G c.(8302-8304)aAc>aGc p.N2768S FBN2_ENST00000262464.4_Missense_Mutation_p.N2768S P35556 FBN2_HUMAN fibrillin 2 2768 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AGAATAGCCGTTGATTTTGCA 0.453000 38 90 0 0 1 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27834798 27834798 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:27834798C>A ENST00000331442.3 - 1 561 c.510G>T c.(508-510)gtG>gtT p.V170V NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 170 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 GGCTCTTCGCCACCTTTTTGA 0.592000 61 127 5.47352e-35 8.42571e-35 1 1 0 RTP1 132112 broad.mit.edu 37 3 186917551 186917551 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:186917551G>A ENST00000312295.4 + 2 515 c.485G>A c.(484-486)cGc>cAc p.R162H RP11-208N14.4_ENST00000356133.3_RNA NM_153708.2 NP_714919.2 P59025 RTP1_HUMAN receptor (chemosensory) transporter protein 1 162 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) ACCAGCCTGCGCGAGCAGTGC 0.677000 20 42 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147128358 147128358 + Silent SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:147128358C>T ENST00000282928.4 + 1 1188 c.459C>T c.(457-459)caC>caT p.H153H NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 153 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 CTGCCGGCCACGCGTCGCCTA 0.711000 7 26 0 0 1 0 0 MAGEB10 139422 broad.mit.edu 37 X 27840035 27840035 + Silent SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:27840035G>C ENST00000356790.2 + 3 857 c.612G>C c.(610-612)ctG>ctC p.L204L NM_182506.3 NP_872312.2 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 204 MAGE. NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 CTGGCCTGCTGATGACTGTCC 0.463000 19 40 0 0 1 0 0 ENPP6 133121 broad.mit.edu 37 4 185018518 185018518 + Silent SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:185018518G>T ENST00000296741.2 - 7 1138 c.997C>A c.(997-999)Cga>Aga p.R333R NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 333 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) AGCATCTCTCGATTCTGAAAC 0.612000 16 18 1.15088e-07 1.2847e-07 1 1 0 TMEM200A 114801 broad.mit.edu 37 6 130762678 130762678 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:130762678C>G ENST00000392429.1 + 2 3489 c.1111C>G c.(1111-1113)Cag>Gag p.Q371E TMEM200A_ENST00000545622.1_Missense_Mutation_p.Q371E|TMEM200A_ENST00000296978.3_Missense_Mutation_p.Q371E NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 371 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) TGGGGCTGGACAGCTCTTGTC 0.537000 22 53 0 0 1 0 0 RAMP3 10268 broad.mit.edu 37 7 45222991 45222991 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:45222991C>T ENST00000242249.4 + 3 465 c.427C>T c.(427-429)Cgc>Tgc p.R143C RAMP3_ENST00000481345.1_Missense_Mutation_p.R143C|RAMP3_ENST00000496212.1_Missense_Mutation_p.R143C NM_005856.2 NP_005847.1 O60896 RAMP3_HUMAN receptor (G protein-coupled) activity modifying protein 3 143 intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane|lysosome protein transporter activity breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 11 Pramlintide(DB01278) GCGCAGCAAACGCACCGACAC 0.627000 59 48 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161953981 161953981 + Silent SNP G G T rs142854687 TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:161953981G>T ENST00000294794.3 - 8 2160 c.1737C>A c.(1735-1737)cgC>cgA p.R579R OLFML2B_ENST00000367938.1_Silent_p.R62R|OLFML2B_ENST00000367940.2_Silent_p.R580R NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 579 Olfactomedin-like. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GGGTGAAGGCGCGATTGTAGT 0.607000 31 61 1.75199e-13 2.19726e-13 1 1 0 GPLD1 2822 broad.mit.edu 37 6 24467009 24467009 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:24467009C>A ENST00000230036.1 - 10 830 c.720G>T c.(718-720)gtG>gtT p.V240V GPLD1_ENST00000474784.1_5'UTR NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 240 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 GGAATTGTTCCACCAAAAACG 0.363000 16 37 5.3912e-06 5.86919e-06 1 1 0 IGKV1D-42 28892 broad.mit.edu 37 2 90229360 90229360 + RNA SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:90229360G>T ENST00000390278.2 + 0 200 GGTATCTGCAGAAACCAGGGA 0.493000 26 67 1.75199e-13 2.19726e-13 1 1 0 CHST13 166012 broad.mit.edu 37 3 126260799 126260799 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:126260799C>G ENST00000319340.2 + 3 454 c.404C>G c.(403-405)cCg>cGg p.P135R NM_152889.2 NP_690849.1 Q8NET6 CHSTD_HUMAN carbohydrate (chondroitin 4) sulfotransferase 13 135 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(114;0.151) CGCGGCGACCCGCGCGCCATC 0.721000 11 25 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296282 39296282 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr17:39296282G>T ENST00000345847.4 - 1 457 c.458C>A c.(457-459)tCt>tAt p.S153Y NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 149 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ttcacagcaagaggggcggca 0.662000 4 77 4.096e-09 4.75316e-09 1 1 0 ZNF804A 91752 broad.mit.edu 37 2 185802541 185802541 + Nonsense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:185802541C>A ENST00000302277.6 + 4 3012 c.2418C>A c.(2416-2418)tgC>tgA p.C806* NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 806 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TTGCTCCCTGCAAGCCTAAAA 0.383000 31 46 3.90053e-15 5.06014e-15 1 1 0 FLNC 2318 broad.mit.edu 37 7 128488974 128488974 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:128488974C>T ENST00000325888.8 + 28 5126 c.4865C>T c.(4864-4866)cCc>cTc p.P1622L FLNC_ENST00000346177.6_Missense_Mutation_p.P1622L NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1622 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GATGAGATCCCCTACTCGCCC 0.622000 33 70 0 0 1 0 0 SEPT6 23157 broad.mit.edu 37 X 118771044 118771044 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:118771044C>G ENST00000394610.1 - 7 1166 c.902G>C c.(901-903)tGt>tCt p.C301S SEPT6_ENST00000354416.3_Missense_Mutation_p.C301S|SEPT6_ENST00000360156.7_Missense_Mutation_p.C301S|SEPT6_ENST00000343984.5_Missense_Mutation_p.C301S|SEPT6_ENST00000354228.4_Missense_Mutation_p.C301S|SEPT6_ENST00000489216.1_Missense_Mutation_p.C301S|SEPT6_ENST00000394616.4_Missense_Mutation_p.C243S|SEPT6_ENST00000394617.2_Missense_Mutation_p.C331S NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 301 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 CTCCAGCTTACAGCGGCGATA 0.612000 T MLL AML 23 64 0 0 1 0 0 OR10A7 121364 broad.mit.edu 37 12 55615193 55615193 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:55615193C>A ENST00000326258.1 + 1 385 c.385C>A c.(385-387)Cct>Act p.P129T NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CATCTGTAACCCTCTCCATTA 0.473000 37 63 6.97489e-18 9.39475e-18 1 1 0 MED7 9443 broad.mit.edu 37 5 156566212 156566212 + Silent SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:156566212T>C ENST00000286317.5 - 2 612 c.231A>G c.(229-231)gaA>gaG p.E77E MED7_ENST00000420343.1_Silent_p.E77E NM_004270.4 NP_004261.1 O43513 MED7_HUMAN mediator complex subunit 7 77 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex protein binding|transcription coactivator activity kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2) 7 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTTTTCTCAGTTCTTTCTTGT 0.378000 34 74 0 0 1 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58189861 58189861 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:58189861C>T ENST00000318203.5 + 5 1587 c.890C>T c.(889-891)aCa>aTa p.T297I NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 297 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGAAATTCCACATGTGAGGTA 0.478000 25 59 0 0 1 0 0 NCAPD2 9918 broad.mit.edu 37 12 6638760 6638760 + Splice_Site SNP G G T rs111952025 TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:6638760G>T ENST00000315579.5 + 28 4452 c.e28+1 NCAPD2_ENST00000545962.1_Splice_Site NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 GCACATCCCGGTATGCTGCCC 0.607000 21 67 1.9806e-07 2.20624e-07 1 1 0 DNAJC11 55735 broad.mit.edu 37 1 6705119 6705119 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:6705119C>A ENST00000377577.5 - 9 1085 c.962G>T c.(961-963)cGt>cTt p.R321L DNAJC11_ENST00000294401.7_Missense_Mutation_p.R321L|DNAJC11_ENST00000377573.5_Missense_Mutation_p.R231L|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000542246.1_Missense_Mutation_p.R283L NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 321 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCCTTTCACACGAGTCTGATC 0.522000 68 166 4.8811e-34 7.4702e-34 1 1 0 H2BFM 286436 broad.mit.edu 37 X 103294763 103294763 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:103294763G>T ENST00000243297.5 + 3 529 c.529G>T c.(529-531)Ggc>Tgc p.G177C H2BFM_ENST00000355016.3_Missense_Mutation_p.G74C H2B histone family, member M endometrium(1)|lung(1)|ovary(1) 3 GGTTCACCAGGGCCTCAGCCT 0.632000 5 6 0.014758 0.0151305 1 1 0 ESX1 80712 broad.mit.edu 37 X 103498900 103498900 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:103498900C>A ENST00000372588.4 - 2 524 c.441G>T c.(439-441)acG>acT p.T147T NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 147 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 GCTGAAACTGCGTGAACGCGG 0.642000 39 93 3.09479e-21 4.38082e-21 1 1 0 MUC16 94025 broad.mit.edu 37 19 8993474 8993474 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:8993474C>A ENST00000397910.4 - 66 41818 c.41615G>T c.(41614-41616)gGg>gTg p.G13872V MUC16_ENST00000380951.5_Missense_Mutation_p.G513V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13875 SEA 12. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTGTCCAGCCCAGGGCCTGT 0.597000 42 44 2.66277e-13 3.33161e-13 1 1 0 PXDNL 137902 broad.mit.edu 37 8 52384784 52384784 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:52384784C>G ENST00000356297.4 - 8 875 c.775G>C c.(775-777)Gga>Cga p.G259R PXDNL_ENST00000543296.1_Missense_Mutation_p.G259R NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 259 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TTGGGGTTTCCTTCCGCCCGG 0.448000 35 58 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16267025 16267025 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr22:16267025G>T ENST00000343518.6 - 9 1475 c.1424C>A c.(1423-1425)aCt>aAt p.T475N NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 475 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 ATTGTCAGCAGTGGCACCGTT 0.408000 46 489 2.84144e-21 4.03301e-21 1 1 0 ANK2 287 broad.mit.edu 37 4 114280093 114280093 + Missense_Mutation SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:114280093C>G ENST00000357077.4 + 38 10372 c.10319C>G c.(10318-10320)tCc>tGc p.S3440C ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S3407C NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3407 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATACTTACATCCCGATTGCCA 0.478000 18 45 0 0 1 0 0 NR3C2 4306 broad.mit.edu 37 4 149115939 149115939 + Missense_Mutation SNP A A C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:149115939A>C ENST00000355292.3 - 4 2346 c.1984T>G c.(1984-1986)Tgc>Ggc p.C662G NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Missense_Mutation_p.C662G|NR3C2_ENST00000342437.4_Missense_Mutation_p.C658G|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000358102.3_Missense_Mutation_p.C658G|NR3C2_ENST00000512865.1_Missense_Mutation_p.C658G|NR3C2_ENST00000344721.4_Missense_Mutation_p.C658G P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 658 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) TGAAGTCTGCAAGCAGGACAA 0.308000 40 74 0 0 1 0 0 CST1 1469 broad.mit.edu 37 20 23731410 23731410 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr20:23731410C>T ENST00000304749.2 - 1 164 c.94G>A c.(94-96)Ggt>Agt p.G32S CST1_ENST00000398402.1_Missense_Mutation_p.G32S NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 32 Reactive site. extracellular region cysteine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) TAGATGCCACCCGGGATTATC 0.567000 19 43 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113266529 113266529 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:113266529G>T ENST00000297405.5 - 63 10307 c.10063C>A c.(10063-10065)Cca>Aca p.P3355T CSMD3_ENST00000352409.3_Missense_Mutation_p.P3285T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P3186T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3315T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3355 Sushi 27. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GGCACACCTGGGTTTTCACAA 0.363000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 54 103 3.76997e-23 5.46852e-23 1 1 0 DBX2 440097 broad.mit.edu 37 12 45410190 45410190 + Missense_Mutation SNP T T C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:45410190T>C ENST00000332700.6 - 4 1070 c.899A>G c.(898-900)gAa>gGa p.E300G NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 300 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) GATTAGTCTTTCTGAAGGTTC 0.498000 27 59 0 0 1 0 0 KDELR1 10945 broad.mit.edu 37 19 48887696 48887696 + Missense_Mutation SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:48887696A>G ENST00000597017.1 - 3 634 c.209T>C c.(208-210)tTg>tCg p.L70S KDELR1_ENST00000330720.2_Missense_Mutation_p.L132S P24390 ERD21_HUMAN KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 132 intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction KDEL sequence binding|protein binding|receptor activity NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1) 11 all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203) all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145) CAGCTGCGGCAAGATGGCCAC 0.587000 11 23 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134664626 134664626 + Missense_Mutation SNP C C A rs143825819 byFrequency TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr10:134664626C>A ENST00000368586.5 - 40 5858 c.5758G>T c.(5758-5760)Ggc>Tgc p.G1920C TTC40_ENST00000263170.5_Missense_Mutation_p.G81C NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 81 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 ATTACCAGGCCGACGGAAGTG 0.632000 21 69 5.26018e-13 6.55041e-13 1 1 0 OR6F1 343169 broad.mit.edu 37 1 247875300 247875300 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:247875300C>T ENST00000302084.2 - 1 805 c.758G>A c.(757-759)gGg>gAg p.G253E RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G253L(1) breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AACTGTGGACCCATACCAAAT 0.527000 48 61 0 0 1 0 0 CYP26A1 1592 broad.mit.edu 37 10 94834754 94834754 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr10:94834754G>A ENST00000371531.1 + 3 804 c.426G>A c.(424-426)gtG>gtA p.V142V CYP26A1_ENST00000224356.4_Silent_p.V211V|CYP26A1_ENST00000394139.1_Silent_p.V142V NM_057157.2 NP_476498.1 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, polypeptide 1 211 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) AGCAGCTTGTGGAGGCCTTCG 0.642000 37 75 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65489738 65489738 + Silent SNP C C G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr15:65489738C>G ENST00000261883.4 - 9 3052 c.2886G>C c.(2884-2886)ggG>ggC p.G962G NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 962 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CTTCCAGTGGCCCCACAATCT 0.542000 25 65 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164727128 164727128 + Nonsense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:164727128C>T ENST00000264382.3 - 35 4180 c.4118G>A c.(4117-4119)tGg>tAg p.W1373* NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1373 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCTGGCCCACCACTCTGCTGT 0.378000 HNSCC(35;0.089) 22 58 0 0 1 0 0 OR2W5 441932 broad.mit.edu 37 1 247655221 247655221 + RNA SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:247655221A>G ENST00000522351.1 + 0 852 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) AAGCCGGCCAACAGCTACTCC 0.522000 60 70 0 0 1 0 0 ASB5 140458 broad.mit.edu 37 4 177190254 177190254 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:177190254C>A ENST00000296525.3 - 1 119 c.6G>T c.(4-6)tcG>tcT p.S2S NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 2 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) CTTCTAACACCGACATTGCTG 0.458000 28 34 4.22769e-11 5.11978e-11 1 1 0 FAM47C 442444 broad.mit.edu 37 X 37027083 37027083 + Silent SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:37027083G>T ENST00000358047.3 + 1 652 c.600G>T c.(598-600)ccG>ccT p.P200P NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 200 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 GTCTCCCCCCGGAGCCTCCCA 0.642000 11 51 1.08611e-07 1.21755e-07 1 1 0 NDST1 3340 broad.mit.edu 37 5 149927844 149927844 + Missense_Mutation SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:149927844G>T ENST00000261797.6 + 12 2712 c.2210G>T c.(2209-2211)gGc>gTc p.G737V NDST1_ENST00000523767.1_Intron NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 737 Heparan sulfate N-sulfotransferase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATTACCGCCGGCTCTGACGCA 0.627000 25 51 0.000720815 0.000753644 1 1 0 NDST1 3340 broad.mit.edu 37 5 149927843 149927843 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:149927843G>C ENST00000261797.6 + 12 2711 c.2209G>C c.(2209-2211)Ggc>Cgc p.G737R NDST1_ENST00000523767.1_Intron NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 737 Heparan sulfate N-sulfotransferase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GATTACCGCCGGCTCTGACGC 0.622000 25 50 0 0 1 0 0 DDX51 317781 broad.mit.edu 37 12 132627289 132627289 + Silent SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:132627289G>T ENST00000397333.3 - 3 692 c.654C>A c.(652-654)atC>atA p.I218I NM_175066.3 NP_778236.2 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 218 rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) AGTAGGACGAGATGCCGTGTG 0.617000 28 51 4.43304e-23 6.41272e-23 1 1 0 FOXO1 2308 broad.mit.edu 37 13 41134046 41134046 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr13:41134046C>A ENST00000379561.5 - 2 1966 c.1582G>T c.(1582-1584)Gct>Tct p.A528S NM_002015.3 NP_002006.2 Q12778 FOXO1_HUMAN forkhead box O1 528 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding PAX7/FOXO1(197)|PAX3/FOXO1(749) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 20 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) GTCTGCTGAGCATGTCCAGGG 0.557000 36 35 2.05212e-20 2.87405e-20 1 1 0 KCNU1 157855 broad.mit.edu 37 8 36675183 36675183 + Nonsense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:36675183T>A ENST00000399881.3 + 10 1048 c.1011T>A c.(1009-1011)tgT>tgA p.C337* NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 337 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TTGTGGTCTGTGGAAACATCA 0.453000 33 29 0 0 1 0 0 EXOSC1 51013 broad.mit.edu 37 10 99203063 99203063 + Silent SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr10:99203063T>A ENST00000370902.3 - 3 184 c.153A>T c.(151-153)ccA>ccT p.P51P EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000370885.4_Intron|EXOSC1_ENST00000485122.2_Silent_p.P51P|EXOSC1_ENST00000370886.5_Silent_p.P51P NM_016046.3 NP_057130.1 Q9Y3B2 EXOS1_HUMAN exosome component 1 51 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus protein binding|RNA binding breast(1)|endometrium(1)|lung(5) 7 Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965) all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202) CAGACACCACTGGAAGCTACA 0.438000 54 114 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40587217 40587217 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr15:40587217C>T ENST00000260402.3 - 18 2075 c.1826G>A c.(1825-1827)cGc>cAc p.R609H PLCB2_ENST00000557821.1_Missense_Mutation_p.R605H|PLCB2_ENST00000456256.2_Missense_Mutation_p.R609H NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 609 PI-PLC Y-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) GGAGTCCATGCGGGTTCCCTT 0.567000 107 61 0 0 1 0 0 UGT1A8 54576 broad.mit.edu 37 2 234526584 234526584 + Silent SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:234526584C>T ENST00000373450.4 + 1 294 c.231C>T c.(229-231)taC>taT p.Y77Y NM_019076.4 NP_061949.3 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) TGAAGACTTACTCAACCTCAT 0.463000 63 107 0 0 1 0 0 TRAV3 28690 broad.mit.edu 37 14 22192375 22192375 + RNA SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr14:22192375T>A ENST00000390425.2 + 0 326 CTGGAAACCCTTATCTTTTTT 0.483000 32 61 0 0 1 0 0 FAM174B 400451 broad.mit.edu 37 15 93173525 93173525 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr15:93173525G>A ENST00000327355.5 - 2 693 c.395C>T c.(394-396)cCa>cTa p.P132L FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR|FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR NM_207446.2 NP_997329.2 Q3ZCQ3 F174B_HUMAN family with sequence similarity 174, member B 132 integral to membrane endometrium(2)|lung(1) 3 TCGCTCTGCTGGAGTGGTGAT 0.473000 27 17 0 0 1 0 0 CDH3 1001 broad.mit.edu 37 16 68718695 68718695 + Silent SNP A A G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr16:68718695A>G ENST00000264012.4 + 10 1936 c.1392A>G c.(1390-1392)gcA>gcG p.A464A CDH3_ENST00000429102.2_Silent_p.A464A|CDH3_ENST00000581171.1_Silent_p.A409A NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 464 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TCTACACTGCAGAAGACCCTG 0.547000 114 46 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131172131 131172131 + Missense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:131172131T>A ENST00000357668.1 - 11 1016 c.989A>T c.(988-990)tAc>tTc p.Y330F ASAP1_ENST00000518721.1_Missense_Mutation_p.Y330F Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 330 PH. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 CTTTAGCAGGTACCCCTTCTT 0.453000 34 101 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155099299 155099299 + Silent SNP A A T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:155099299A>T ENST00000392825.3 + 6 1134 c.567A>T c.(565-567)atA>atT p.I189I GALNT13_ENST00000409237.1_Silent_p.I189I NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 189 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 CTGGGTTAATACGTGCCCGTC 0.423000 21 44 0 0 1 0 0 TTLL7 79739 broad.mit.edu 37 1 84403604 84403604 + Silent SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:84403604G>A ENST00000260505.8 - 8 1196 c.819C>T c.(817-819)tcC>tcT p.S273S TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 273 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) ACCATTTGATGGAACGTTTGC 0.373000 44 41 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49395430 49395430 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:49395430C>A ENST00000419349.1 - 1 286 c.282G>T c.(280-282)ggG>ggT p.G94G GPX1_ENST00000419783.1_Intron|GPX1_ENST00000496791.1_Intron NM_201397.1 NP_958799.1 P07203 GPX1_HUMAN glutathione peroxidase 1 185 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) GCACGTCCGCccccgccccgc 0.716000 3 7 1 1 1 1 0 FAT4 79633 broad.mit.edu 37 4 126239735 126239735 + Silent SNP T T G TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:126239735T>G ENST00000394329.3 + 1 2182 c.2169T>G c.(2167-2169)acT>acG p.T723T NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 723 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCAATGGTACTGTCAAATATA 0.473000 23 52 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21051404 21051404 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:21051404G>C ENST00000381545.3 + 14 1936 c.1717G>C c.(1717-1719)Ggt>Cgt p.G573R SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G573R|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G573R|LST3_ENST00000540229.1_Missense_Mutation_p.G573R|LST3_ENST00000381541.3_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 573 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) ACTTGCAATGGGTTTCCAGTC 0.264000 29 76 0 0 1 0 0 CREG1 8804 broad.mit.edu 37 1 167515387 167515387 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:167515387C>A ENST00000370509.4 - 3 635 c.610G>T c.(610-612)Ggt>Tgt p.G204C CREG1_ENST00000466652.1_5'UTR NM_003851.2 NP_003842.1 O75629 CREG1_HUMAN cellular repressor of E1A-stimulated genes 1 204 cell proliferation|multicellular organismal development|regulation of growth|regulation of transcription from RNA polymerase II promoter extracellular region FMN binding|transcription corepressor activity TTTGGTCCACCAAAGTAGTCC 0.413000 13 39 5.50884e-06 5.98491e-06 1 1 0 TRIP11 9321 broad.mit.edu 37 14 92505994 92505994 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr14:92505994C>A ENST00000267622.4 - 1 409 c.36G>T c.(34-36)ttG>ttT p.L12F TRIP11_ENST00000555105.1_5'UTR NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 12 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) GAGACTGGCCCAATCCGGAGC 0.602000 T PDGFRB AML 9 12 0.0581538 0.0589351 1 1 0 MIR154 406946 broad.mit.edu 37 14 101526116 101526116 + RNA SNP G G T rs150222739 by1000genomes TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr14:101526116G>T ENST00000385243.1 + 0 25 NR_029704.1 TAGGTTATCCGTGTTGCCTTC 0.502000 93 230 4.95785e-36 7.69924e-36 1 1 0 NAALADL2 254827 broad.mit.edu 37 3 174814852 174814852 + Missense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:174814852T>A ENST00000454872.1 + 2 444 c.316T>A c.(316-318)Tac>Aac p.Y106N NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 106 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) AGAATCTGACTACATTACCCA 0.408000 20 79 0 0 1 0 0 ROCK1 6093 broad.mit.edu 37 18 18629092 18629092 + Missense_Mutation SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr18:18629092C>A ENST00000399799.1 - 4 1315 c.375G>T c.(373-375)agG>agT p.R125S NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 125 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) CCATGATGTCCCTTTCTTCCC 0.383000 82 24 3.1711e-36 4.95366e-36 1 1 0 SLC2A13 114134 broad.mit.edu 37 12 40265747 40265747 + Missense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:40265747T>A ENST00000280871.4 - 5 1101 c.1051A>T c.(1051-1053)Att>Ttt p.I351F NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 351 integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) ATCTGCAGAATGGTTGCACTG 0.373000 HNSCC(50;0.14) 26 42 0 0 1 0 0 ZPBP 11055 broad.mit.edu 37 7 50022996 50022996 + Silent SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:50022996G>C ENST00000046087.2 - 7 972 c.903C>G c.(901-903)cgC>cgG p.R301R ZPBP_ENST00000491129.1_5'UTR|ZPBP_ENST00000419417.1_Silent_p.R300R NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 301 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) CTGGAAAGCAGCGATTAATCC 0.338000 17 379 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46515686 46515686 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr11:46515686C>T ENST00000458649.2 - 10 2826 c.2408G>A c.(2407-2409)cGc>cAc p.R803H AMBRA1_ENST00000529963.1_5'UTR|AMBRA1_ENST00000298834.3_Missense_Mutation_p.R743H|AMBRA1_ENST00000426438.1_Missense_Mutation_p.R774H|AMBRA1_ENST00000534300.1_Missense_Mutation_p.R743H|AMBRA1_ENST00000533727.1_Missense_Mutation_p.R684H|AMBRA1_ENST00000528950.1_Missense_Mutation_p.R774H|AMBRA1_ENST00000314845.3_Missense_Mutation_p.R713H Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 803 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) TGGGACAAAGCGTCCAAGCGA 0.468000 10 1 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98799785 98799785 + Silent SNP G G T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr10:98799785G>T ENST00000266058.4 - 21 2502 c.2257C>A c.(2257-2259)Cgg>Agg p.R753R SLIT1_ENST00000371070.4_Silent_p.R753R|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 753 LRRNT 4. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GGCAGGGCCCGCAGGTGCTTG 0.662000 12 39 4.3838e-07 4.87294e-07 1 1 0 SVEP1 79987 broad.mit.edu 37 9 113312289 113312289 + Silent SNP C C A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr9:113312289C>A ENST00000401783.2 - 2 963 c.627G>T c.(625-627)gcG>gcT p.A209A SVEP1_ENST00000302728.8_Silent_p.A209A|SVEP1_ENST00000374469.1_Silent_p.A186A|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Silent_p.A186A NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 209 VWFA. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CTCGCAGTGACGCTGCAATTG 0.453000 36 27 7.11191e-15 9.20364e-15 1 1 0 ATXN2L 11273 broad.mit.edu 37 16 28841988 28841988 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr16:28841988G>A ENST00000336783.4 + 9 1254 c.1087G>A c.(1087-1089)Gga>Aga p.G363R ATXN2L_ENST00000382686.4_Missense_Mutation_p.G363R|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.G363R|ATXN2L_ENST00000564304.1_Missense_Mutation_p.G363R|ATXN2L_ENST00000340394.8_Missense_Mutation_p.G363R|ATXN2L_ENST00000325215.6_Missense_Mutation_p.G363R|ATXN2L_ENST00000395547.2_Missense_Mutation_p.G363R NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 363 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TCCCCGGGGAGGAGTTCGATG 0.602000 10 50 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907671 12907671 + Frame_Shift_Del DEL T T - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:12907671delT ENST00000317869.6 - 2 697 c.472delA c.(472-474)gtfs p.S158fs NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TTGAAGCCACTTTTGCCCCTT 0.502 72 163 --- --- --- --- COL11A1 1301 broad.mit.edu 37 1 103461597 103461597 + Splice_Site DEL C C - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:103461597delC ENST00000358392.2 - 27 2596 c.2277_splice c.e27-1 p.G760_splice COL11A1_ENST00000370096.3_Splice_Site_p.G748_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G709_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G632_splice NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 748 Triple-helical 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) ACCAGGGGGACCCTGAAATAG 0.363 42 38 --- --- --- --- FCRL5 83416 broad.mit.edu 37 1 157508906 157508906 + Frame_Shift_Del DEL G G - rs149906130 byFrequency TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:157508906delG ENST00000361835.3 - 7 1529 c.1372delC c.(1372-1374)gcfs p.R458fs FCRL5_ENST00000368191.3_Frame_Shift_Del_p.R373fs|FCRL5_ENST00000368190.3_Frame_Shift_Del_p.R458fs|FCRL5_ENST00000368189.3_Frame_Shift_Del_p.R458fs|FCRL5_ENST00000356953.4_Frame_Shift_Del_p.R458fs NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 458 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GCCTTACTGCGCTGGGGGCCA 0.582 13 48 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183518986 183518987 + Frame_Shift_Ins INS - - T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:183518986_183518987insT ENST00000367537.3 + 21 3205_3206 c.3010_3011insT c.(3010-3012)cccfs p.P1004fs SMG7_ENST00000515829.2_Frame_Shift_Ins_p.P925fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.P883fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.P979fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.P975fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.P971fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 971 Ser-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TCCCTCAATGGCCCCCCAGGAA 0.426 41 88 --- --- --- --- TRIM58 25893 broad.mit.edu 37 1 248028102 248028102 + Frame_Shift_Del DEL G G - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr1:248028102delG ENST00000366481.3 + 3 660 c.612delG c.(610-612)ctfs p.L204fs NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 204 intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGAGGCGGCTGGAGGCGGAGG 0.627 25 48 --- --- --- --- ZAP70 7535 broad.mit.edu 37 2 98340826 98340827 + Frame_Shift_Ins INS - - C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:98340826_98340827insC ENST00000264972.5 + 3 542_543 c.327_328insC c.(325-330)gacgcafs p.A110fs NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 110 Interdomain A. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 CGGGCCTCGAGCCGCAGCCGGG 0.713 12 15 --- --- --- --- ACOXL 55289 broad.mit.edu 37 2 111789238 111789238 + Frame_Shift_Del DEL G G - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr2:111789238delG ENST00000389811.4 + 16 1630 c.1406delG c.(1405-1407)tgfs p.W469fs ACOXL_ENST00000439055.1_Frame_Shift_Del_p.W439fs Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 469 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 TTCCATGCCTGGAACTCGTGT 0.463 46 72 --- --- --- --- SCN11A 11280 broad.mit.edu 37 3 38888292 38888293 + Frame_Shift_Ins INS - - T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:38888292_38888293insT ENST00000450244.1 - 26 5466_5467 c.5268_5269insA c.(5266-5271)cagtgafs p.*1757fs SCN11A_ENST00000456224.3_Frame_Shift_Ins_p.*1719fs|SCN11A_ENST00000302328.3_Frame_Shift_Ins_p.*1757fs Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1757 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TTttggtcaccttggtcaccct 0.490 42 42 --- --- --- --- TAGLN3 29114 broad.mit.edu 37 3 111718280 111718280 + Frame_Shift_Del DEL G G - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:111718280delG ENST00000393917.2 + 2 563 c.11delG c.(10-12)agfs p.R4fs TAGLN3_ENST00000478951.1_Frame_Shift_Del_p.R4fs|TAGLN3_ENST00000273368.4_Frame_Shift_Del_p.R4fs|TAGLN3_ENST00000455401.2_Frame_Shift_Del_p.R4fs NM_013259.2 NP_037391.2 Q9UI15 TAGL3_HUMAN transgelin 3 4 central nervous system development|muscle organ development endometrium(2)|lung(5)|urinary_tract(1) 8 ATGGCTAACAGGGGCCCGAGC 0.582 36 38 --- --- --- --- MME 4311 broad.mit.edu 37 3 154861327 154861327 + Frame_Shift_Del DEL G G - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr3:154861327delG ENST00000460393.1 + 13 1404 c.1284delG c.(1282-1284)gtfs p.V428fs MME_ENST00000493237.1_Frame_Shift_Del_p.V428fs|MME_ENST00000360490.2_Frame_Shift_Del_p.V428fs|MME_ENST00000462745.1_Frame_Shift_Del_p.V428fs|MME_ENST00000492661.1_Frame_Shift_Del_p.V428fs NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 428 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GGCTTTATGTGGAAGCAGCAT 0.423 50 160 --- --- --- --- PGM2 55276 broad.mit.edu 37 4 37848585 37848585 + Frame_Shift_Del DEL G G - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:37848585delG ENST00000381967.4 + 9 1141 c.1041delG c.(1039-1041)ttfs p.L347fs PGM2_ENST00000544359.1_Frame_Shift_Del_p.L208fs|PGM2_ENST00000537241.1_Frame_Shift_Del_p.L187fs NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 347 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 GCAATGAGTTGGGGGCCCTCC 0.453 41 118 --- --- --- --- SLC30A9 10463 broad.mit.edu 37 4 42072566 42072566 + Frame_Shift_Del DEL G G - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr4:42072566delG ENST00000264451.6 + 15 1456 c.1276delG c.(1276-1278)gtfs p.G426fs NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 426 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TGACAGCCTAGGTTCTTTGGG 0.408 59 128 --- --- --- --- PCDHA10 56139 broad.mit.edu 37 5 140237982 140237982 + Frame_Shift_Del DEL C C - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:140237982delC ENST00000307360.5 + 1 2349 c.2349delC c.(2347-2349)gafs p.D783fs PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGATGTGGACGGGGAAGATC 0.522 11 17 --- --- --- --- NSD1 64324 broad.mit.edu 37 5 176700778 176700779 + Frame_Shift_Del DEL AT AT - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr5:176700778_176700779delAT ENST00000439151.2 + 17 5660_5661 c.5615_5616delAT c.(5614-5616)cfs p.H1872fs NSD1_ENST00000347982.4_Frame_Shift_Del_p.H1603fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.H1769fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.H1603fs NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1872 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CCTTATAAACATATAAAGGTGA 0.450 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 40 15 --- --- --- --- ZNF318 24149 broad.mit.edu 37 6 43306452 43306471 + Frame_Shift_Del DEL GGCTTTCCTTATCCTGGTTA GGCTTTCCTTATCCTGGTTA - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:43306452_43306471delGGCTTTCCTTATCCTGGTTA ENST00000361428.2 - 10 5342_5361 c.5265_5284delTAACCAGGATAAGGAAAGCC c.(5263-5286)gtaafs p.VNQDKESQ1755fs ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1755 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CGGAGCTCTTGGCTTTCCTTATCCTGGTTAACAGATTCTC 0.436 12 81 --- --- --- --- LPAL2 80350 broad.mit.edu 37 6 160908670 160908671 + RNA INS - - T rs149149185 by1000genomes TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr6:160908670_160908671insT ENST00000335388.5 - 0 508 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) GATTTTAACTGTTTTTTTTTTA 0.356 4 2 --- --- --- --- AC073842.19 0 broad.mit.edu 37 7 99737172 99737172 + RNA DEL T T - rs56301545 TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr7:99737172delT ENST00000376482.3 + 0 74 gcgcATGGACTTTTTTTTTTT 0.423 3 2 --- --- --- --- ADAM18 8749 broad.mit.edu 37 8 39521390 39521391 + Frame_Shift_Ins INS - - T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr8:39521390_39521391insT ENST00000265707.5 + 13 1352_1353 c.1307_1308insT c.(1306-1308)ttgfs p.L436fs ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Frame_Shift_Ins_p.L412fs NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 436 Disintegrin. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TCTGGACCATGTTGTACATCAA 0.322 15 38 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139402413 139402413 + Frame_Shift_Del DEL G G - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr9:139402413delG ENST00000277541.6 - 21 3579 c.3504delC c.(3502-3504)tcfs p.S1168fs NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1168 EGF-like 30. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CCACCTTGCAGGAGTAGCCGC 0.652 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 25 40 --- --- --- --- ST8SIA6 338596 broad.mit.edu 37 10 17373447 17373448 + Frame_Shift_Ins INS - - C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr10:17373447_17373448insC ENST00000377602.4 - 5 555_556 c.481_482insG c.(481-483)aatfs p.N161fs NM_001004470.1 NP_001004470.1 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 161 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1) 37 AATTGGGATTTCTTTTTTGCTT 0.366 32 87 --- --- --- --- ATRNL1 26033 broad.mit.edu 37 10 116887418 116887418 + Frame_Shift_Del DEL G G - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr10:116887418delG ENST00000355044.3 + 4 679 c.553delG c.(553-555)gcfs p.G185fs ATRNL1_ENST00000527407.1_Frame_Shift_Del_p.G185fs|ATRNL1_ENST00000529665.1_3'UTR NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 185 CUB. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TACTACATCTGGCTATGCACT 0.313 20 49 --- --- --- --- KLRAP1 10748 broad.mit.edu 37 12 10750542 10750542 + RNA DEL C C - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:10750542delC ENST00000510134.2 - 0 315 breast(1)|large_intestine(1)|lung(1) 3 TTTCTTATCACCAGCCAAGAA 0.318 16 29 --- --- --- --- LST3 0 broad.mit.edu 37 12 21205160 21205160 + Frame_Shift_Del DEL G G - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr12:21205160delG ENST00000381541.3 + 10 1527 c.1462delG c.(1462-1464)gafs p.G488fs SLCO1B7_ENST00000554957.1_Frame_Shift_Del_p.G488fs|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Frame_Shift_Del_p.G441fs|LST3_ENST00000540229.1_Intron TTGTCTAGCAGGATGCAAATC 0.358 33 98 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25468643 25468644 + RNA INS - - TT TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr15:25468643_25468644insTT ENST00000453082.2 + 0 885 NR_003343.1 TGGGCTTGGTGTTTGCGCTCCT 0.614 15 9 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25490791 25490791 + RNA DEL C C - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr15:25490791delC ENST00000453082.2 + 0 2719 NR_003343.1 GACCTGGAGGCCCTGAAGGGC 0.582 64 43 --- --- --- --- DNM1P46 196968 broad.mit.edu 37 15 100331893 100331894 + RNA INS - - C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr15:100331893_100331894insC ENST00000341853.1 - 0 2297_2298 NR_003260.1 TCCTCTGTGGTCCCTCCAAGAC 0.584 15 24 --- --- --- --- SMG1P3 100271836 broad.mit.edu 37 16 21469994 21469994 + RNA DEL A A - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr16:21469994delA ENST00000520823.2 - 0 749 ACTGTACATTAAAAAAAAAAA 0.294 2 4 --- --- --- --- RRN3P2 653390 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 8 8 --- --- --- --- SCAF1 58506 broad.mit.edu 37 19 50155567 50155569 + In_Frame_Del DEL AAG AAG - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr19:50155567_50155569delAAG ENST00000360565.3 + 7 2045_2047 c.1921_1923delAAG c.(1921-1923)del p.K645del NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 645 Arg-rich.|Ser-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TGGCGGCAGCAAGAAGAAGAAGA 0.744 2 4 --- --- --- --- KIAA1755 85449 broad.mit.edu 37 20 36851953 36851953 + Frame_Shift_Del DEL G G - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr20:36851953delG ENST00000279024.4 - 9 2526 c.2255delC c.(2254-2256)ctfs p.P752fs NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 752 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) CATCCCCCCAGGGGGGTCGGC 0.617 17 30 --- --- --- --- CLTCL1 8218 broad.mit.edu 37 22 19184057 19184057 + Frame_Shift_Del DEL C C - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr22:19184057delC ENST00000263200.10 - 25 4056 c.3984delG c.(3982-3984)aafs p.K1328fs CLTCL1_ENST00000353891.5_Frame_Shift_Del_p.K1328fs|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Frame_Shift_Del_p.K1328fs NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1328 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) TCTTCTGTGGCTTGAATTTGG 0.572 T ? ALCL 11 24 --- --- --- --- TMEM211 255349 broad.mit.edu 37 22 25331445 25331445 + Frame_Shift_Del DEL C C - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr22:25331445delC ENST00000407886.1 - 4 497 c.245delG c.(244-246)gtfs p.G82fs TMEM211_ENST00000423535.1_Frame_Shift_Del_p.G153fs|TMEM211_ENST00000382744.1_Frame_Shift_Del_p.G82fs Q6ICI0 TM211_HUMAN transmembrane protein 211 153 integral to membrane endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 AGTCATGTAACCCCAACCCAG 0.562 14 50 --- --- --- --- EWSR1 2130 broad.mit.edu 37 22 29674145 29674146 + Frame_Shift_Ins INS - - T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chr22:29674145_29674146insT ENST00000397938.2 + 5 672_673 c.353_354insT c.(352-354)tggfs p.W118fs EWSR1_ENST00000406548.1_Frame_Shift_Ins_p.W118fs|EWSR1_ENST00000332035.6_Frame_Shift_Ins_p.W118fs|EWSR1_ENST00000332050.6_Frame_Shift_Ins_p.W118fs|EWSR1_ENST00000331029.7_Frame_Shift_Ins_p.W118fs|EWSR1_ENST00000333395.6_Frame_Shift_Ins_p.W118fs|EWSR1_ENST00000414183.2_Frame_Shift_Ins_p.W124fs NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 118 31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAGTCTGCATATGGCACTCAGC 0.554 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 9 33 --- --- --- --- ARAF 369 broad.mit.edu 37 X 47426094 47426094 + Frame_Shift_Del DEL C C - TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dac53b2-6d3e-4740-bd93-5248f93a0643 1e058e03-3c90-4fa7-b8d3-57358d37e736 g.chrX:47426094delC ENST00000377045.4 + 7 808 c.614delC c.(613-615)gcfs p.A205fs ARAF_ENST00000290277.6_Intron NM_001256196.1|NM_001654.4 NP_001243125.1|NP_001645.1 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene homolog 205 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity p.L207fs*85(1) biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 29 Adenosine triphosphate(DB00171) CCAGCCAATGCCCCCCTACAG 0.632 8 20 --- --- --- ---