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 AKNAD1 254268 broad.mit.edu 37 1 109380190 109380190 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:109380190G>A ENST00000370001.3 - 7 1786 c.1518C>T c.(1516-1518)ttC>ttT p.F506F AKNAD1_ENST00000369994.1_Silent_p.F506F|AKNAD1_ENST00000357393.4_Silent_p.F213F|AKNAD1_ENST00000369995.3_Silent_p.F506F NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 506 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 AGAGTGAAGAGAAGGTGGAGG 0.393000 8 51 0 0 1 0 0 KIAA1161 57462 broad.mit.edu 37 9 34372504 34372504 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:34372504G>A ENST00000297625.7 - 2 561 c.336C>T c.(334-336)ttC>ttT p.F112F NM_020702.3 NP_065753.2 Q6NSJ0 K1161_HUMAN KIAA1161 146 carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CAGTCTGGATGAAGAAGTGCA 0.711000 4 8 0 0 1 0 0 RALBP1 10928 broad.mit.edu 37 18 9516934 9516934 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr18:9516934C>T ENST00000019317.4 + 3 559 c.336C>T c.(334-336)ttC>ttT p.F112F RALBP1_ENST00000383432.3_Silent_p.F112F Q15311 RBP1_HUMAN ralA binding protein 1 112 chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 14 TCCATGTTTTCAAGAAGCCCA 0.383000 32 25 0 0 1 0 0 KRT24 192666 broad.mit.edu 37 17 38859890 38859890 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:38859890C>T ENST00000264651.2 - 1 112 c.56G>A c.(55-57)aGg>aAg p.R19K NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 19 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) AGCAGACACCCTGGCTGAGCT 0.637000 19 43 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139889288 139889288 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:139889288G>A ENST00000297183.6 + 21 3956 c.3832G>A c.(3832-3834)Gat>Aat p.D1278N ANKHD1_ENST00000360839.2_Missense_Mutation_p.D1278N|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D1278N NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTTCTTCTTGATAAAGGAGC 0.428000 18 47 0 0 1 0 0 AMIGO2 347902 broad.mit.edu 37 12 47472748 47472748 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:47472748C>T ENST00000266581.4 - 2 504 c.38G>A c.(37-39)gGa>gAa p.G13E AMIGO2_ENST00000429635.1_Missense_Mutation_p.G13E|AMIGO2_ENST00000321382.3_Missense_Mutation_p.G13E|AMIGO2_ENST00000550413.1_Missense_Mutation_p.G13E NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 13 heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) GACGACGGCTCCAAGCAGGGT 0.607000 20 29 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 6007285 6007285 + Missense_Mutation SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:6007285C>A ENST00000399933.3 - 1 502 c.503G>T c.(502-504)tGc>tTc p.C168F KIAA2026_ENST00000381461.2_Missense_Mutation_p.C168F NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 168 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CAGGCGGTAGCACGTCTCCAG 0.592000 50 30 3.68337e-26 3.99795e-26 1 1 0 ACAN 176 broad.mit.edu 37 15 89386683 89386683 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:89386683G>T ENST00000439576.2 + 6 1229 c.855G>T c.(853-855)caG>caT p.Q285H ACAN_ENST00000558207.1_Missense_Mutation_p.Q285H|ACAN_ENST00000352105.7_Missense_Mutation_p.Q285H|ACAN_ENST00000561243.1_Missense_Mutation_p.Q285H|ACAN_ENST00000559004.1_Missense_Mutation_p.Q285H NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 285 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CCACGGGCCAGCTCTACCTGG 0.662000 11 6 6.40141e-05 6.59968e-05 1 1 0 P4HA1 5033 broad.mit.edu 37 10 74833573 74833573 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:74833573T>C ENST00000412021.2 - 4 422 c.89A>G c.(88-90)gAt>gGt p.D30G P4HA1_ENST00000263556.3_Missense_Mutation_p.D30G|P4HA1_ENST00000307116.2_Missense_Mutation_p.D30G|P4HA1_ENST00000440381.1_Missense_Mutation_p.D30G|P4HA1_ENST00000373008.2_Missense_Mutation_p.D30G|RP11-344N10.2_ENST00000431293.2_RNA|P4HA1_ENST00000394890.2_Missense_Mutation_p.D30G NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 30 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ATGGATCAAATCAGTCATCTG 0.333000 49 54 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156945840 156945840 + Missense_Mutation SNP A A T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:156945840A>T ENST00000257527.4 - 7 735 c.657T>A c.(655-657)gaT>gaA p.D219E ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Missense_Mutation_p.D221E|ADAM19_ENST00000517905.1_Missense_Mutation_p.D219E NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 219 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTCTAAATAATCAGCCACGA 0.443000 91 82 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67318778 67318778 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:67318778G>A ENST00000360461.5 + 12 4390 c.1855G>A c.(1855-1857)Gag>Aag p.E619K PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E538K|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E619K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E619K NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 619 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) GCTGGGCTCAGAGGCCATCCG 0.657000 3 12 0 0 1 0 0 LCA5 167691 broad.mit.edu 37 6 80228565 80228565 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:80228565G>A ENST00000392959.1 - 3 658 c.47C>T c.(46-48)gCa>gTa p.A16V LCA5_ENST00000467898.3_Missense_Mutation_p.A16V|LCA5_ENST00000369846.4_Missense_Mutation_p.A16V NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 16 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) GTGTTTGCCTGCCTTTCTTTC 0.408000 73 93 0 0 1 0 0 KTI12 112970 broad.mit.edu 37 1 52498579 52498579 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:52498579C>T ENST00000371614.1 - 1 909 c.855G>A c.(853-855)ttG>ttA p.L285L TXNDC12_ENST00000371626.4_Intron NM_138417.2 NP_612426.1 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated (S. cerevisiae) 285 ATP binding central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1) 12 GCGCTTCCATCAATCCGGCCA 0.622000 24 141 0 0 1 0 0 IL21 59067 broad.mit.edu 37 4 123533893 123533893 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:123533893G>A ENST00000264497.3 - 5 518 c.461C>T c.(460-462)tCt>tTt p.S154F NM_001207006.2|NM_021803.3 NP_001193935.1|NP_068575.1 Q9HBE4 IL21_HUMAN interleukin 21 147 cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3) 8 GTGTGTTCTAGAGGACAGATG 0.358000 12 29 0 0 1 0 0 HHLA2 11148 broad.mit.edu 37 3 108094622 108094622 + Missense_Mutation SNP A A T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:108094622A>T ENST00000357759.5 + 8 1548 c.1134A>T c.(1132-1134)agA>agT p.R378S HHLA2_ENST00000489514.2_Missense_Mutation_p.R378S|HHLA2_ENST00000467761.1_Missense_Mutation_p.R378S|HHLA2_ENST00000467562.1_Missense_Mutation_p.R314S|HHLA2_ENST00000491820.1_Intron NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 378 integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 ggaggagcagacaccctgctg 0.498000 4 10 0 0 1 0 0 C3orf67 200844 broad.mit.edu 37 3 58792122 58792122 + Splice_Site SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:58792122G>A ENST00000295966.7 - 14 1986 c.1483C>T c.(1483-1485)Cgg>Tgg p.R495W C3orf67_ENST00000482387.1_Splice_Site_p.R621W NM_198463.2 NP_940865.1 Q6ZVT6 CC067_HUMAN chromosome 3 open reading frame 67 495 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) GATTCTTACCGGGGATTAGAA 0.338000 6 48 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144809937 144809937 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:144809937G>T ENST00000367545.3 + 29 4101 c.4101G>T c.(4099-4101)agG>agT p.R1367S NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1367 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TGACTGACAGGATAGATGCTT 0.488000 6 21 0.00198382 0.00200099 1 1 0 CPSF1 29894 broad.mit.edu 37 8 145621669 145621669 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:145621669C>T ENST00000349769.3 - 26 2967 c.2873G>A c.(2872-2874)cGa>cAa p.R958Q NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 958 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGAGCCCCTCGGCCGGTCAC 0.642000 4 4 0 0 1 0 0 CELA3A 10136 broad.mit.edu 37 1 22333505 22333505 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:22333505A>G ENST00000290122.3 + 5 516 c.497A>G c.(496-498)tAt>tGt p.Y166C NM_005747.4 NP_005738.4 chymotrypsin-like elastase family, member 3A endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GGCCGTCTCTATAGTACGTGC 0.602000 5 52 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 211192434 211192434 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:211192434G>A ENST00000367007.4 - 6 892 c.723C>T c.(721-723)ttC>ttT p.F241F KCNH1_ENST00000271751.4_Silent_p.F241F NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 241 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GCCTGGTTTTGAAGGAGACAT 0.403000 13 52 0 0 1 0 0 GALNT8 26290 broad.mit.edu 37 12 4853708 4853708 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:4853708G>A ENST00000252318.2 + 4 1039 c.702G>A c.(700-702)gaG>gaA p.E234E RP11-234B24.6_ENST00000544741.2_3'UTR NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 234 Catalytic subdomain A. E -> K (in dbSNP:rs16931676). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 ACTTGGATGAGAAGATTAAGC 0.403000 20 18 0 0 1 0 0 BRI3BP 140707 broad.mit.edu 37 12 125478519 125478519 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:125478519C>T ENST00000341446.8 + 1 274 c.183C>T c.(181-183)ttC>ttT p.F61F NM_080626.5 NP_542193.3 Q8WY22 BRI3B_HUMAN BRI3 binding protein 61 integral to membrane|mitochondrial outer membrane large_intestine(1)|lung(8)|ovary(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576) GCAGCCTGTTCGGCGAGGACA 0.761000 14 4 0 0 1 0 0 ANKRA2 57763 broad.mit.edu 37 5 72858588 72858588 + Nonsense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:72858588G>T ENST00000296785.3 - 2 777 c.119C>A c.(118-120)tCa>tAa p.S40* NM_023039.4 NP_075526.1 Q9H9E1 ANRA2_HUMAN ankyrin repeat, family A (RFXANK-like), 2 40 cytoskeleton|cytosol|membrane low-density lipoprotein particle binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 Lung NSC(167;0.0378)|Ovarian(174;0.0908) OV - Ovarian serous cystadenocarcinoma(47;3.71e-54) CCCTTCTTCTGAATTTGGGTC 0.433000 46 105 1.48059e-44 1.61961e-44 1 1 0 ZNF365 22891 broad.mit.edu 37 10 64136491 64136491 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:64136491T>C ENST00000395254.3 + 2 819 c.539T>C c.(538-540)aTt>aCt p.I180T ZNF365_ENST00000395255.3_Missense_Mutation_p.I180T|ZNF365_ENST00000410046.3_Missense_Mutation_p.I180T|ZNF365_ENST00000466727.1_Intron NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 0 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) GAGAAGAGAATTGATAAACTC 0.468000 41 117 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40716969 40716969 + Silent SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:40716969C>G ENST00000298910.7 + 38 5575 c.5517C>G c.(5515-5517)ctC>ctG p.L1839L NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1839 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CAGGAGATCTCTTAGTAAATC 0.308000 18 58 0 0 1 0 0 KIAA1161 57462 broad.mit.edu 37 9 34372677 34372677 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:34372677G>A ENST00000297625.7 - 2 388 c.163C>T c.(163-165)Cgc>Tgc p.R55C NM_020702.3 NP_065753.2 Q6NSJ0 K1161_HUMAN KIAA1161 89 carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) AGCTCCGCGCGAAGTCGCTCC 0.682000 6 6 0 0 1 0 0 BTN3A3 10384 broad.mit.edu 37 6 26452306 26452306 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:26452306C>T ENST00000244519.2 + 11 1665 c.1422C>T c.(1420-1422)ttC>ttT p.F474F BTN3A3_ENST00000361232.3_Silent_p.F425F|BTN3A3_ENST00000339789.4_Silent_p.F432F NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 474 B30.2/SPRY. integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 AGATCTCGTTCTATAATGCCA 0.488000 30 56 0 0 1 0 0 PC 5091 broad.mit.edu 37 11 66636334 66636334 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:66636334G>A ENST00000393960.1 - 10 1286 c.1005C>T c.(1003-1005)gtC>gtT p.V335V PC_ENST00000393955.2_Silent_p.V335V|PC_ENST00000355677.3_Silent_p.V335V|PC_ENST00000393958.2_Silent_p.V335V|PC_ENST00000524491.1_Silent_p.V295V NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 335 ATP-grasp.|Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) TCTCCTCTGTGACCGTGTGCT 0.632000 10 28 0 0 1 0 0 CDK13 8621 broad.mit.edu 37 7 40133797 40133797 + Nonsense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:40133797C>T ENST00000181839.4 + 14 4362 c.3757C>T c.(3757-3759)Cga>Tga p.R1253* CDK13_ENST00000340829.5_Nonsense_Mutation_p.R1193* NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 1253 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 AGACCGGCCTCGAATTCTGCC 0.498000 28 69 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120856885 120856885 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:120856885G>A ENST00000527524.2 + 21 3074 c.2787G>A c.(2785-2787)caG>caA p.Q929Q GRIK4_ENST00000438375.2_Silent_p.Q929Q NM_001282470.1 NP_001269399.1 Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 929 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GCCGCTTCCAGGGCCTGCGGG 0.741000 10 7 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65179006 65179006 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr18:65179006A>G ENST00000310045.7 - 2 4343 c.2870T>C c.(2869-2871)cTg>cCg p.L957P CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 947 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) ATATTGGGCCAGTTTACCCCT 0.393000 32 35 0 0 1 0 0 CAMTA2 23125 broad.mit.edu 37 17 4872214 4872214 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:4872214C>T ENST00000361571.5 - 21 3941 c.3530G>A c.(3529-3531)cGc>cAc p.R1177H CAMTA2_ENST00000358183.4_Missense_Mutation_p.R1171H|CAMTA2_ENST00000414043.3_Silent_p.A1200A|CAMTA2_ENST00000572543.1_Missense_Mutation_p.R1183H|CAMTA2_ENST00000381311.5_Missense_Mutation_p.R1173H|CAMTA2_ENST00000348066.3_Missense_Mutation_p.R1178H NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 1178 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 GTGTCGGCAGCGCCGCAGGAA 0.562000 51 25 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129513909 129513909 + Nonsense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:129513909C>T ENST00000421865.2 + 12 1742 c.1693C>T c.(1693-1695)Cag>Tag p.Q565* NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 565 Laminin IV type A 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GGACTCACCTCAGCAGATCAG 0.567000 5 35 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33359990 33359990 + Silent SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:33359990T>C ENST00000404816.2 + 5 1517 c.1164T>C c.(1162-1164)caT>caC p.H388H LTBP1_ENST00000404525.1_Silent_p.H62H|LTBP1_ENST00000402934.1_Silent_p.H62H|LTBP1_ENST00000407925.1_Silent_p.H62H|LTBP1_ENST00000418533.2_Silent_p.H62H|LTBP1_ENST00000390003.4_Silent_p.H62H|LTBP1_ENST00000354476.3_Silent_p.H388H Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 388 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AGAATGGTCATGCTGCCGACA 0.512000 9 22 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47783593 47783593 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr21:47783593A>G ENST00000359568.5 + 14 2460 c.2353A>G c.(2353-2355)Atc>Gtc p.I785V PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 785 Glu-rich. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GAAACAGACCATCATAAACAA 0.488000 18 46 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138391434 138391434 + Missense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:138391434C>G ENST00000310018.2 - 22 2740 c.2458G>C c.(2458-2460)Ggg>Cgg p.G820R ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G820R|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G820R NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 820 G -> R (in RTADR). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TAACCATCCCCGACATAGAAC 0.522000 33 70 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 56963872 56963872 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:56963872G>C ENST00000370708.4 + 3 297 c.119G>C c.(118-120)cGa>cCa p.R40P ZNF451_ENST00000491832.2_Missense_Mutation_p.R40P|ZNF451_ENST00000370702.1_Missense_Mutation_p.R40P|ZNF451_ENST00000370710.6_Missense_Mutation_p.R40P|ZNF451_ENST00000510989.1_3'UTR|ZNF451_ENST00000357489.3_Missense_Mutation_p.R40P|ZNF451_ENST00000370706.4_Missense_Mutation_p.R40P NM_001257273.1 NP_001244202.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 40 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GGACCATTACGACCTGTTCTT 0.338000 6 52 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256897 69256897 + Missense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:69256897C>G ENST00000439696.2 - 2 671 c.370G>C c.(370-372)Gag>Cag p.E124Q ZFP36L1_ENST00000336440.3_Missense_Mutation_p.E124Q|ZFP36L1_ENST00000555997.1_3'UTR NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 124 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CCGTTTTCCTCAAAGGGGCGG 0.657000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 95 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48686553 48686553 + Splice_Site SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:48686553C>A ENST00000544264.1 - 18 6863 c.e18+1 CELSR3_ENST00000164024.4_Splice_Site Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGCAGTCTCACCAGCAGACTG 0.597000 4 16 0.00909568 0.00916121 1 1 0 SPRY4 81848 broad.mit.edu 37 5 141694592 141694592 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:141694592G>A ENST00000344120.4 - 3 337 c.151C>T c.(151-153)Cac>Tac p.H51Y SPRY4_ENST00000434127.2_Missense_Mutation_p.H28Y NM_030964.3 NP_112226.2 Q9C004 SPY4_HUMAN sprouty homolog 4 (Drosophila) 28 multicellular organismal development cytoplasm|ruffle membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1) 18 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCGGCTGTGGGACATCCGG 0.612000 Testicular Cancer, Familial Clustering of 9 26 0 0 1 0 0 FAM198B 51313 broad.mit.edu 37 4 159091630 159091630 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:159091630C>T ENST00000296530.8 - 2 1519 c.898G>A c.(898-900)Gag>Aag p.E300K FAM198B_ENST00000592057.1_Missense_Mutation_p.E300K|FAM198B_ENST00000393807.5_Missense_Mutation_p.E300K|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000585682.1_Missense_Mutation_p.E300K NM_016613.6 NP_057697.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 300 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 TGGATGAACTCTGCTTTCCTG 0.473000 OREG0016378 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 23 0 0 1 0 0 ZBTB34 403341 broad.mit.edu 37 9 129643161 129643161 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:129643161G>A ENST00000319119.4 + 2 1568 c.1483G>A c.(1483-1485)Gaa>Aaa p.E495K ZBTB34_ENST00000373452.2_Missense_Mutation_p.E491K NM_001099270.1 NP_001092740.1 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 TTCCCGGATGGAAATTCACAC 0.448000 5 24 0 0 1 0 0 GPHN 10243 broad.mit.edu 37 14 67555731 67555731 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:67555731A>G ENST00000478722.1 + 12 2297 c.1176A>G c.(1174-1176)gtA>gtG p.V392V GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Silent_p.V359V|GPHN_ENST00000305960.9_Silent_p.V328V|GPHN_ENST00000543237.1_Silent_p.V405V NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 359 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) CTCAAGATGTATATGCAAAAG 0.408000 T MLL AL 6 46 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180049776 180049776 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:180049776C>T ENST00000367607.3 + 30 6522 c.6104C>T c.(6103-6105)tCa>tTa p.S2035L NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2035 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TCAGATGAGTCATTATCTATG 0.408000 OREG0004796 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 19 43 0 0 1 0 0 HIC2 23119 broad.mit.edu 37 22 21800568 21800568 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr22:21800568G>A ENST00000443632.2 + 2 1756 c.1384G>A c.(1384-1386)Gag>Aag p.E462K HIC2_ENST00000407464.2_Missense_Mutation_p.E462K|HIC2_ENST00000407598.2_Missense_Mutation_p.E462K Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 462 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) TGCGCACGTGGAGACTCACAC 0.622000 32 28 0 0 1 0 0 SHD 56961 broad.mit.edu 37 19 4284882 4284882 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:4284882C>T ENST00000543264.2 + 4 2160 c.697C>T c.(697-699)Ctg>Ttg p.L233L SHD_ENST00000600475.1_3'UTR|SHD_ENST00000599689.1_Silent_p.L233L NM_020209.3 NP_064594.3 Q96IW2 SHD_HUMAN Src homology 2 domain containing transforming protein D 233 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1) 14 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18) GGACCCAGCCCTGCCCCTGGA 0.592000 45 23 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92136294 92136294 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:92136294G>A ENST00000256343.3 - 14 1307 c.1151C>T c.(1150-1152)tCt>tTt p.S384F NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 384 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) GGTGCTCACAGAGGCAATGGC 0.363000 15 36 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116445438 116445438 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:116445438G>A ENST00000281928.3 - 11 2222 c.2016C>T c.(2014-2016)ctC>ctT p.L672L NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 672 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GTTGTGCTAAGAGTCTaaaag 0.348000 9 51 0 0 1 0 0 ACY3 91703 broad.mit.edu 37 11 67412329 67412329 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:67412329G>A ENST00000255082.3 - 7 816 c.646C>T c.(646-648)Cct>Tct p.P216S ACY3_ENST00000529256.1_Missense_Mutation_p.P95S NM_080658.1 NP_542389.1 Q96HD9 ACY3_HUMAN aspartoacylase (aminocyclase) 3 216 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding endometrium(1)|lung(5)|prostate(2) 8 L-Aspartic Acid(DB00128) TCAAAGGCAGGAAAGGCCGTA 0.652000 4 4 0 0 1 0 0 KIF3C 3797 broad.mit.edu 37 2 26204205 26204205 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:26204205C>T ENST00000264712.3 - 1 1161 c.582G>A c.(580-582)gtG>gtA p.V194V KIF3C_ENST00000405914.1_Silent_p.V194V NM_002254.6 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 194 Kinesin-motor. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAGGTTCATCACATGCTCAA 0.567000 26 70 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65907308 65907308 + Missense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:65907308C>G ENST00000321892.4 + 13 3747 c.3686C>G c.(3685-3687)tCt>tGt p.S1229C BPTF_ENST00000424123.3_Missense_Mutation_p.S1090C|BPTF_ENST00000306378.6_Missense_Mutation_p.S1103C|BPTF_ENST00000335221.5_Missense_Mutation_p.S1229C Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1229 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) AAAAATCTCTCTGAATCACCA 0.393000 11 17 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 93017451 93017451 + Silent SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:93017451G>T ENST00000523629.1 - 6 1087 c.633C>A c.(631-633)ctC>ctA p.L211L RUNX1T1_ENST00000521553.1_Silent_p.L174L|RUNX1T1_ENST00000520724.1_Silent_p.L174L|RUNX1T1_ENST00000265814.3_Silent_p.L211L|RUNX1T1_ENST00000396218.1_Silent_p.L184L|RUNX1T1_ENST00000436581.2_Silent_p.L222L|RUNX1T1_ENST00000518844.1_Silent_p.L184L|RUNX1T1_ENST00000422361.2_Silent_p.L174L|RUNX1T1_ENST00000360348.2_Silent_p.L174L NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 211 TAFH. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CATGCTGGGCGAGGTACTGGG 0.577000 14 60 4.3838e-07 4.58038e-07 1 1 0 ANK3 288 broad.mit.edu 37 10 61822996 61822996 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:61822996C>T ENST00000280772.2 - 40 12659 c.12468G>A c.(12466-12468)tcG>tcA p.S4156S ANK3_ENST00000373827.2_Silent_p.S1537S|ANK3_ENST00000503366.1_Silent_p.S1544S|ANK3_ENST00000355288.2_Silent_p.S677S NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) Death. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTGTCAAGACCGAAGTTAAGG 0.348000 10 24 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9475997 9475997 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:9475997C>T ENST00000407969.1 + 3 228 c.214C>T c.(214-216)Cct>Tct p.P72S SETD5_ENST00000302463.6_Intron|SETD5_ENST00000402198.1_Intron|SETD5_ENST00000406341.1_Intron|SETD5_ENST00000402466.1_Intron Q9C0A6 SETD5_HUMAN SET domain containing 5 59 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) TCCGACACCTCCTGCTTCTCC 0.527000 5 28 0 0 1 0 0 DCX 1641 broad.mit.edu 37 X 110654178 110654178 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chrX:110654178G>A ENST00000338081.3 - 1 196 c.25C>T c.(25-27)Cat>Tat p.H9Y DCX_ENST00000371993.2_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000356915.2_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000496551.1_Intron NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 9 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 TCAGTACAATGACTATGAAGG 0.433000 39 22 0 0 1 0 0 STARD7 56910 broad.mit.edu 37 2 96860705 96860705 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:96860705G>A ENST00000337288.5 - 3 923 c.540C>T c.(538-540)ttC>ttT p.F180F STARD7_ENST00000462501.1_5'UTR NM_020151.3 NP_064536.2 Q9NQZ5 STAR7_HUMAN StAR-related lipid transfer (START) domain containing 7 180 START. mitochondrion endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2) 14 CCTGAACATTGAAGAACTGCC 0.413000 6 6 0 0 1 0 0 RUSC1 23623 broad.mit.edu 37 1 155294730 155294730 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:155294730G>A ENST00000368352.5 + 3 1603 c.1452G>A c.(1450-1452)aaG>aaA p.K484K RUSC1_ENST00000368354.3_Silent_p.K484K|RUSC1_ENST00000368349.4_Silent_p.K15K|RUSC1_ENST00000368347.4_Silent_p.K74K|RUSC1_ENST00000292254.4_Silent_p.K15K|RUSC1_ENST00000462780.1_3'UTR NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 484 cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) AGGAGCAGAAGAAAGGTAGGG 0.662000 OREG0013860 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 68 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104742539 104742539 + Silent SNP T T G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:104742539T>G ENST00000334877.4 + 17 2628 c.2094T>G c.(2092-2094)ctT>ctG p.L698L KMT2E_ENST00000257745.4_Silent_p.L698L|KMT2E_ENST00000311117.3_Silent_p.L698L|KMT2E_ENST00000334914.7_5'UTR lysine (K)-specific methyltransferase 2E ATACTGTACTTACAATAGAAC 0.368000 33 67 0 0 1 0 0 PRKD3 23683 broad.mit.edu 37 2 37494609 37494609 + Silent SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:37494609T>C ENST00000379066.1 - 14 2610 c.1848A>G c.(1846-1848)caA>caG p.Q616Q PRKD3_ENST00000234179.2_Silent_p.Q616Q O94806 KPCD3_HUMAN protein kinase D3 616 Protein kinase. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) GTTGACTTTCTTGTTTTGTGG 0.323000 47 72 0 0 1 0 0 NHLRC3 387921 broad.mit.edu 37 13 39621995 39621995 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr13:39621995G>A ENST00000379600.3 + 7 1298 c.976G>A c.(976-978)Gaa>Aaa p.E326K NHLRC3_ENST00000470258.1_Missense_Mutation_p.E129K|NHLRC3_ENST00000379599.2_Missense_Mutation_p.E259K NM_001012754.3 NP_001012772.1 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 326 extracellular region breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2) 11 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) CTATGTAGCAGAAATTGGAGC 0.403000 5 87 0 0 1 0 0 ZNF571 51276 broad.mit.edu 37 19 38055593 38055593 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:38055593G>A ENST00000328550.2 - 4 1836 c.1737C>T c.(1735-1737)atC>atT p.I579I ZNF571_ENST00000593133.1_Silent_p.I579I|ZNF571_ENST00000358744.3_Silent_p.I579I|ZNF571_ENST00000451802.2_Silent_p.I579I|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA Q7Z3V5 ZN571_HUMAN zinc finger protein 571 579 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 25 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CACCAGTATGGATCCTTTGAT 0.428000 8 124 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55529088 55529088 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:55529088G>A ENST00000436346.1 - 27 5433 c.4592C>T c.(4591-4593)gCc>gTc p.A1531V CCDC88A_ENST00000422883.2_Intron|CCDC88A_ENST00000336838.6_Missense_Mutation_p.A1530V|CCDC88A_ENST00000413716.2_Missense_Mutation_p.A1530V|CCDC88A_ENST00000263630.8_Missense_Mutation_p.A1503V NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1531 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 AGTAGAGAAGGCCATAGCTCC 0.428000 43 79 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149509431 149509431 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:149509431C>T ENST00000261799.4 - 10 1937 c.1468G>A c.(1468-1470)Gag>Aag p.E490K NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 490 Ig-like C2-type 5. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CTCACCACCTCAAACTCCTGC 0.637000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" OREG0016927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 28 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28541324 28541324 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:28541324T>C ENST00000452236.2 - 4 2959 c.2342A>G c.(2341-2343)tAt>tGt p.Y781C NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 781 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 atgttttgaatataaatgtcg 0.333000 12 27 0 0 1 0 0 MFSD8 256471 broad.mit.edu 37 4 128886262 128886262 + Silent SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:128886262T>C ENST00000296468.3 - 2 154 c.27A>G c.(25-27)gaA>gaG p.E9E MFSD8_ENST00000513559.1_Intron|MFSD8_ENST00000541133.1_Intron|MFSD8_ENST00000515130.1_5'UTR NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 9 cell death|transmembrane transport integral to membrane|lysosomal membrane cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 GCGGCTCCTGTTCACTTTCGT 0.617000 6 39 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50803829 50803829 + Silent SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:50803829G>C ENST00000263046.4 + 5 850 c.684G>C c.(682-684)ctG>ctC p.L228L TFAP2B_ENST00000393655.3_Silent_p.L219L Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 219 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) ACGGCTTCCTGGGAGGCATGT 0.468000 61 115 0 0 1 0 0 MAP3K6 9064 broad.mit.edu 37 1 27683081 27683081 + Splice_Site SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:27683081C>T ENST00000493901.1 - 26 3763 c.3524G>A c.(3523-3525)cGg>cAg p.R1175Q MAP3K6_ENST00000357582.2_Splice_Site_p.R1175Q|MAP3K6_ENST00000374040.3_Splice_Site_p.R1167Q NM_004672.3 NP_004663.3 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 1175 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GGGGCTTTACCGATCAGTCTC 0.637000 15 11 0 0 1 0 0 LAS1L 81887 broad.mit.edu 37 X 64753527 64753527 + Missense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chrX:64753527C>G ENST00000374811.3 - 2 365 c.325G>C c.(325-327)Gat>Cat p.D109H LAS1L_ENST00000374807.5_Missense_Mutation_p.D109H|LAS1L_ENST00000312391.8_Missense_Mutation_p.D109H|LAS1L_ENST00000374804.5_Intron NM_031206.4 NP_112483.1 Q9Y4W2 LAS1L_HUMAN LAS1-like (S. cerevisiae) 109 MLL1 complex|nucleolus protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 33 CTAAGTTCATCAGTGCCCAAG 0.552000 26 63 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 64004988 64004988 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:64004988C>T ENST00000443617.2 - 24 4657 c.4570G>A c.(4570-4572)Gag>Aag p.E1524K RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1524 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GCGTAACCCTCTTCATCTGAT 0.393000 7 16 0 0 1 0 0 YWHAE 7531 broad.mit.edu 37 17 1264509 1264509 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:1264509T>C ENST00000264335.8 - 4 722 c.455A>G c.(454-456)tAt>tGt p.Y152C YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.Y130C NM_006761.4 NP_006752.1 P62258 1433E_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 152 apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) AGCAGCTTTATAAGCCACTAG 0.438000 T """FAM22a, FAM22B""" edometrial stromal sarcoma Miller-Dieker lissencephaly syndrome 42 50 0 0 1 0 0 IPO13 9670 broad.mit.edu 37 1 44415322 44415322 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:44415322C>T ENST00000372343.3 + 2 980 c.318C>T c.(316-318)ttC>ttT p.F106F NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 106 Importin N-terminal. protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CACAGCTCTTCACCCAGATCA 0.552000 6 48 0 0 1 0 0 DXO 1797 broad.mit.edu 37 6 31939404 31939404 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:31939404C>T ENST00000375349.3 - 2 460 c.49G>A c.(49-51)Gag>Aag p.E17K DXO_ENST00000337523.5_Missense_Mutation_p.E17K|DXO_ENST00000375356.3_Missense_Mutation_p.E17K|DXO_ENST00000478221.1_Intron decapping exoribonuclease 17 TTCCGAGGCTCAGCTACCTCT 0.577000 9 27 0 0 1 0 0 ZNF782 158431 broad.mit.edu 37 9 99581012 99581012 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:99581012G>A ENST00000481138.1 - 6 1954 c.1293C>T c.(1291-1293)ttC>ttT p.F431F ZNF782_ENST00000535338.1_Silent_p.F299F NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 431 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) ACTTTGCACTGAAAGCTTTAT 0.433000 61 71 0 0 1 0 0 ARPC5 10092 broad.mit.edu 37 1 183599673 183599673 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:183599673G>T ENST00000359856.6 - 3 382 c.316C>A c.(316-318)Cta>Ata p.L106I ARPC5_ENST00000462965.1_5'UTR|ARPC5_ENST00000367534.1_Missense_Mutation_p.L106I|ARPC5_ENST00000294742.6_Missense_Mutation_p.L109I NM_005717.3 NP_005708.1 O15511 ARPC5_HUMAN actin related protein 2/3 complex, subunit 5, 16kDa 106 actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cell projection|cytoplasm actin binding|structural constituent of cytoskeleton cervix(1)|large_intestine(1)|lung(2) 4 TACTTCATTAGGAGATCCACA 0.388000 15 58 2.32078e-09 2.44312e-09 1 1 0 DGCR6L 85359 broad.mit.edu 37 22 20307210 20307210 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr22:20307210C>T ENST00000248879.3 - 2 314 c.223G>A c.(223-225)Gaa>Aaa p.E75K DGCR6L_ENST00000405465.3_Silent_p.P70P NM_033257.3 NP_150282.2 Q9BY27 DGC6L_HUMAN DiGeorge syndrome critical region gene 6-like 75 nucleus endometrium(1)|kidney(1)|lung(2)|stomach(1) 5 Colorectal(54;0.0993) AGGCTCTTTTCGGTGAGGTGC 0.677000 12 2 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32169083 32169083 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:32169083C>T ENST00000375023.3 - 22 4088 c.3950G>A c.(3949-3951)cGg>cAg p.R1317Q NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1317 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GGACAGCACCCGGGCCAGGGC 0.642000 9 29 0 0 1 0 0 FITM1 161247 broad.mit.edu 37 14 24601929 24601929 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:24601929C>T ENST00000267426.5 + 2 1065 c.776C>T c.(775-777)gCc>gTc p.A259V FITM1_ENST00000559294.1_Missense_Mutation_p.A63V NM_203402.2 NP_981947.1 A5D6W6 FITM1_HUMAN fat storage-inducing transmembrane protein 1 259 lipid particle organization|positive regulation of sequestering of triglyceride endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 GGCACCTTTGCCTGGTACCTC 0.607000 11 44 0 0 1 0 0 RAB3A 5864 broad.mit.edu 37 19 18311166 18311166 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:18311166G>A ENST00000222256.4 - 3 496 c.318C>T c.(316-318)aaC>aaT p.N106N RAB3A_ENST00000464076.3_Silent_p.N11N NM_002866.4 NP_002857.1 P20336 RAB3A_HUMAN RAB3A, member RAS oncogene family 106 glutamate secretion|protein transport|small GTPase mediated signal transduction clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle GTP binding|GTPase activity NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 8 AGGATTCCTCGTTGGTGATGT 0.502000 35 74 0 0 1 0 0 GCLC 2729 broad.mit.edu 37 6 53370196 53370196 + Silent SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:53370196C>A ENST00000229416.6 - 12 1872 c.1389G>T c.(1387-1389)ctG>ctT p.L463L RP1-27K12.4_ENST00000508884.1_RNA NM_001197115.1|NM_001498.3 NP_001184044.1|NP_001489.1 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 463 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) TTACCTTTGACAGTGGAATGA 0.348000 15 17 1.3612e-06 1.418e-06 1 1 0 GTPBP8 29083 broad.mit.edu 37 3 112709978 112709978 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:112709978G>A ENST00000383677.3 + 1 147 c.132G>A c.(130-132)ctG>ctA p.L44L RP11-484K9.4_ENST00000609673.1_RNA|GTPBP8_ENST00000383678.2_Silent_p.L44L NM_138485.1 NP_612494.1 Q8N3Z3 GTPB8_HUMAN GTP-binding protein 8 (putative) 44 barrier septum formation GTP binding kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 6 AGCAGCAGCTGAGGAAGCTGC 0.587000 10 31 0 0 1 0 0 SPRR2D 6703 broad.mit.edu 37 1 153012818 153012818 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:153012818G>A ENST00000368757.1 - 2 285 c.5C>T c.(4-6)tCt>tTt p.S2F SPRR2D_ENST00000368758.3_Missense_Mutation_p.S2F|SPRR2D_ENST00000360379.3_Missense_Mutation_p.S2F|SPRR2D_ENST00000368756.1_Missense_Mutation_p.S2F P22532 SPR2D_HUMAN small proline-rich protein 2D 2 keratinization cornified envelope|cytoplasm endometrium(1)|skin(1) 2 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTGTTGATAAGACATCCTGCT 0.542000 55 24 0 0 1 0 0 DNAJC9 23234 broad.mit.edu 37 10 75005770 75005770 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:75005770G>A ENST00000372950.4 - 3 2158 c.486C>T c.(484-486)atC>atT p.I162I NM_015190.3 NP_056005.1 Q8WXX5 DNJC9_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 9 162 protein folding heat shock protein binding|unfolded protein binding endometrium(2)|kidney(1)|large_intestine(2)|stomach(1) 6 Prostate(51;0.0119) CTTGCTGAATGATATTCCTTA 0.438000 37 47 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75829125 75829125 + Missense_Mutation SNP T T G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:75829125T>G ENST00000322507.8 - 45 7460 c.7151A>C c.(7150-7152)aAg>aCg p.K2384T COL12A1_ENST00000416123.2_Missense_Mutation_p.K2384T|COL12A1_ENST00000345356.6_Missense_Mutation_p.K1220T|COL12A1_ENST00000483888.2_Missense_Mutation_p.K2384T NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2384 VWFA 4. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GGCTAGGGCCTTGTCATTGTA 0.438000 7 88 0 0 1 0 0 PTPRR 5801 broad.mit.edu 37 12 71095032 71095032 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:71095032G>C ENST00000283228.2 - 7 1531 c.1079C>G c.(1078-1080)cCa>cGa p.P360R PTPRR_ENST00000342084.4_Missense_Mutation_p.P248R|PTPRR_ENST00000378778.1_Missense_Mutation_p.P154R|PTPRR_ENST00000440835.2_Missense_Mutation_p.P115R|PTPRR_ENST00000549308.1_Missense_Mutation_p.P115R NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 360 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) CCGTGGTGTTGGTATAGACAC 0.458000 24 53 0 0 1 0 0 TMOD1 7111 broad.mit.edu 37 9 100353630 100353630 + Missense_Mutation SNP G G A rs77520953 TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:100353630G>A ENST00000259365.4 + 9 1141 c.928G>A c.(928-930)Gca>Aca p.A310T TMOD1_ENST00000375175.1_Missense_Mutation_p.A183T|TMOD1_ENST00000395211.2_Missense_Mutation_p.A310T NM_003275.3 NP_003266.1 P28289 TMOD1_HUMAN tropomodulin 1 muscle filament sliding cytosol actin binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1) 11 Acute lymphoblastic leukemia(62;0.154) STAD - Stomach adenocarcinoma(157;0.105) GGAAAAAAACGCAACACTTCT 0.418000 6 68 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56114896 56114896 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:56114896C>T ENST00000288221.6 - 7 1845 c.1590G>A c.(1588-1590)atG>atA p.M530I NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 530 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) ACATATCTTTCATGTCACGAA 0.388000 8 39 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56572617 56572617 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:56572617C>T ENST00000394023.3 - 13 1261 c.1156G>A c.(1156-1158)Gaa>Aaa p.E386K SMARCC2_ENST00000550164.1_Missense_Mutation_p.E386K|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.E386K|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E386K NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 386 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TCCATGCTTTCATCTTCCTGT 0.473000 25 32 0 0 1 0 0 SLC30A9 10463 broad.mit.edu 37 4 41992739 41992739 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:41992739G>A ENST00000264451.7 + 1 251 c.71G>A c.(70-72)cGa>cAa p.R24Q NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 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 CTCCGTCTGCGATGCAGGGCG 0.706000 12 14 0 0 1 0 0 SGMS1 259230 broad.mit.edu 37 10 52103835 52103835 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:52103835C>T ENST00000361781.2 - 7 999 c.40G>A c.(40-42)Gac>Aac p.D14N SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.D14N NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 20 SAM. apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 AGCAGCCAGTCTGCCACCTTC 0.512000 18 47 0 0 1 0 0 TSC22D4 81628 broad.mit.edu 37 7 100064708 100064708 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:100064708C>T ENST00000300181.2 - 5 1816 c.1062G>A c.(1060-1062)cgG>cgA p.R354R TSC22D4_ENST00000393991.1_Silent_p.R115R|TSC22D4_ENST00000496728.1_Intron NM_030935.3 NP_112197.1 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 354 Leucine-zipper. negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCGCAGCGTTCCGCTCCGCCA 0.697000 22 20 0 0 1 0 0 FCN1 2219 broad.mit.edu 37 9 137809665 137809665 + Missense_Mutation SNP A A C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:137809665A>C ENST00000371806.3 - 1 144 c.53T>G c.(52-54)tTg>tGg p.L18W NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 18 opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) ATGCAGGAACAAGACTAGCAG 0.582000 21 28 0 0 1 0 0 SEC24B 10427 broad.mit.edu 37 4 110460785 110460785 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:110460785C>T ENST00000265175.5 + 24 3816 c.3761C>T c.(3760-3762)tCt>tTt p.S1254F SEC24B_ENST00000504968.2_Missense_Mutation_p.S1284F|SEC24B_ENST00000399100.2_Missense_Mutation_p.S1219F NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 1254 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) GCTGCATTTTCTTACTATGAA 0.353000 11 52 0 0 1 0 0 CMAS 55907 broad.mit.edu 37 12 22213804 22213804 + Silent SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:22213804T>C ENST00000229329.2 + 5 862 c.732T>C c.(730-732)caT>caC p.H244H NM_018686.4 NP_061156.1 Q8NFW8 NEUA_HUMAN cytidine monophosphate N-acetylneuraminic acid synthetase 244 lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 GAGCTGAACATAGTGTGGATA 0.303000 36 22 0 0 1 0 0 BRD3 8019 broad.mit.edu 37 9 136918414 136918414 + Silent SNP G G C rs145784844 TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:136918414G>C ENST00000303407.7 - 2 371 c.186C>G c.(184-186)ccC>ccG p.P62P BRD3_ENST00000371834.2_Silent_p.P62P|BRD3_ENST00000357885.2_Silent_p.P62P NM_007371.3 NP_031397.1 Q15059 BRD3_HUMAN bromodomain containing 3 62 Bromo 1. nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) TTGCGTCCACGGGCTGGTAGA 0.617000 T C15orf55 lethal midline carcinoma of young people 12 88 0 0 1 0 0 PIP4K2A 5305 broad.mit.edu 37 10 22839618 22839618 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:22839618G>A ENST00000376573.4 - 7 990 c.762C>T c.(760-762)gtC>gtT p.V254V PIP4K2A_ENST00000545335.1_Silent_p.V195V|PIP4K2A_ENST00000323883.7_Silent_p.V114V NM_005028.4 NP_005019.2 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 254 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 TTTCCAGGAAGACCTTCTTGT 0.368000 OREG0020068 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 64 0 0 1 0 0 CHKB 1120 broad.mit.edu 37 22 51018830 51018830 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr22:51018830A>G ENST00000406938.2 - 6 910 c.693T>C c.(691-693)tcT>tcC p.S231S CHKB_ENST00000463053.1_5'UTR NM_005198.4 NP_005189.2 Q9Y259 CHKB_HUMAN choline kinase beta 231 phosphatidylethanolamine biosynthetic process ATP binding|choline kinase activity|ethanolamine kinase activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1) 15 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) GCGATGGGGTAGACTCTAGTA 0.557000 91 46 0 0 1 0 0 QSER1 79832 broad.mit.edu 37 11 32955870 32955870 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:32955870A>G ENST00000399302.2 + 4 3014 c.2679A>G c.(2677-2679)tcA>tcG p.S893S QSER1_ENST00000527788.1_Silent_p.S654S NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 893 breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) TTCAGCAGTCATTAGATGTCA 0.373000 47 24 0 0 1 0 0 ST7 7982 broad.mit.edu 37 7 116849967 116849967 + Missense_Mutation SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:116849967C>A ENST00000265437.5 + 13 1595 c.1381C>A c.(1381-1383)Ctt>Att p.L461I ST7_ENST00000393449.1_Missense_Mutation_p.L461I|ST7_ENST00000422922.1_Missense_Mutation_p.L392I|ST7_ENST00000393451.3_Missense_Mutation_p.L438I|ST7_ENST00000323984.3_Missense_Mutation_p.L461I|ST7_ENST00000393446.2_Missense_Mutation_p.L438I|ST7_ENST00000393447.4_Missense_Mutation_p.L418I|ST7_ENST00000393443.1_Missense_Mutation_p.L388I|ST7_ENST00000432298.1_Missense_Mutation_p.L415I|ST7_ENST00000393444.3_Missense_Mutation_p.L395I NM_021908.2 NP_068708.1 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 461 integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1) 21 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) GGCTTTGAATCTTTTGCATTG 0.388000 36 48 9.84934e-19 1.05918e-18 1 1 0 C7orf43 55262 broad.mit.edu 37 7 99754136 99754136 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:99754136C>T ENST00000316937.3 - 8 1298 c.1113G>A c.(1111-1113)gtG>gtA p.V371V C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000419841.1_Silent_p.V139V|C7orf43_ENST00000457641.1_Silent_p.V102V NM_018275.3 NP_060745.3 Q8WVR3 CG043_HUMAN chromosome 7 open reading frame 43 371 breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1) 10 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AAGCGGTCATCACAAAACACG 0.562000 8 17 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46485285 46485285 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:46485285G>A ENST00000361297.2 + 11 1489 c.1206G>A c.(1204-1206)gaG>gaA p.E402E MAST2_ENST00000372009.2_Silent_p.E332E NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 402 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) AGCGCTCAGAGAGCTCAGAAG 0.527000 9 88 0 0 1 0 0 HMGXB4 10042 broad.mit.edu 37 22 35661174 35661174 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr22:35661174G>A ENST00000216106.5 + 5 921 c.793G>A c.(793-795)Gaa>Aaa p.E265K HMGXB4_ENST00000444518.2_Missense_Mutation_p.E156K NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 265 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCCTGGCCCTGAAGGCTGTGG 0.512000 27 17 0 0 1 0 0 DIO2 1734 broad.mit.edu 37 14 80677627 80677627 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:80677627G>A ENST00000557010.1 - 3 574 c.189C>T c.(187-189)gtC>gtT p.V63V DIO2_ENST00000555750.1_Silent_p.V63V|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000422005.3_Silent_p.V63V|DIO2_ENST00000438257.4_Silent_p.V63V NM_000793.5|NM_001242502.1|NM_001242503.1 NP_000784.2|NP_001229431.1|NP_001229432.1 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II 63 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.0281) AGCTCTTCCAGACGCAGCGCA 0.612000 13 20 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62131753 62131753 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:62131753C>T ENST00000433197.3 - 15 1905 c.1810G>A c.(1810-1812)Gag>Aag p.E604K NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 Protein kinase. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 CTAAAACACTCGGGGAGGATC 0.577000 8 7 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41583408 41583408 + Silent SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:41583408C>A ENST00000396942.1 - 6 566 c.483G>T c.(481-483)gcG>gcT p.A161A ANK1_ENST00000347528.4_Silent_p.A161A|ANK1_ENST00000265709.8_Silent_p.A194A|ANK1_ENST00000289734.7_Silent_p.A161A|ANK1_ENST00000379758.2_Silent_p.A161A|ANK1_ENST00000352337.4_Silent_p.A161A|ANK1_ENST00000396945.1_Silent_p.A161A P16157 ANK1_HUMAN ankyrin 1, erythrocytic 161 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGATGAGGTGCGCGACGACGT 0.662000 7 28 0.00198382 0.00200099 1 1 0 ATG4D 84971 broad.mit.edu 37 19 10662922 10662922 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:10662922G>A ENST00000309469.4 + 9 1337 c.1164G>A c.(1162-1164)aaG>aaA p.K388K ATG4D_ENST00000540862.1_Silent_p.K55K NM_032885.4 NP_116274.3 Q86TL0 ATG4D_HUMAN autophagy related 4D, cysteine peptidase 388 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 19 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CCTTTGCCAAGATGGACCCAA 0.607000 15 70 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64967788 64967788 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:64967788T>C ENST00000399262.2 - 10 3859 c.3641A>G c.(3640-3642)cAt>cGt p.H1214R JMJD1C_ENST00000399251.1_Missense_Mutation_p.H995R|JMJD1C_ENST00000542921.1_Missense_Mutation_p.H1032R|JMJD1C_ENST00000402544.1_Missense_Mutation_p.H995R NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1214 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) CAGGCTGTGATGGATTGGTGG 0.438000 8 81 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149481978 149481978 + RNA SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:149481978C>G ENST00000378016.2 + 0 2766 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CAGGGGCATTCTGCCCCAGGG 0.612000 10 99 0 0 1 0 0 MACC1 346389 broad.mit.edu 37 7 20180731 20180731 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:20180731A>G ENST00000400331.5 - 7 2705 c.2397T>C c.(2395-2397)taT>taC p.Y799Y MACC1_ENST00000332878.4_Silent_p.Y799Y|MACC1_ENST00000589011.1_Silent_p.Y799Y NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 799 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 AGTTATTTCCATAGTGAGCAC 0.378000 24 50 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68999961 68999961 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:68999961C>T ENST00000288368.4 + 19 2307 c.2030C>T c.(2029-2031)aCa>aTa p.T677I RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 677 PDZ 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TGATTTAGGACAGTGAAAATT 0.403000 53 54 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43519662 43519662 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr18:43519662G>A ENST00000282041.5 - 10 2037 c.2003C>T c.(2002-2004)tCa>tTa p.S668L NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 668 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 GGCCAATCCTGAGCCTTGGTT 0.438000 24 15 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36197602 36197602 + Missense_Mutation SNP T T G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:36197602T>G ENST00000258840.6 - 13 2092 c.1702A>C c.(1702-1704)Atg>Ctg p.M568L RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.M568L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.M568L|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.M568L NM_001283044.1 NP_001269973.1 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 568 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TGTACAACCATGTACCGATAA 0.289000 4 22 0 0 1 0 0 LETMD1 25875 broad.mit.edu 37 12 51442197 51442197 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:51442197C>T ENST00000418425.2 + 1 77 c.58C>T c.(58-60)Cct>Tct p.P20S LETMD1_ENST00000547008.1_Missense_Mutation_p.P20S|LETMD1_ENST00000552739.1_Missense_Mutation_p.P20S|LETMD1_ENST00000550929.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000262055.4_Missense_Mutation_p.P20S|LETMD1_ENST00000380123.2_Missense_Mutation_p.P20S NM_001243689.1 NP_001230618.1 Q6P1Q0 LTMD1_HUMAN LETM1 domain containing 1 20 Required and sufficient for mitochondrial import. integral to membrane|mitochondrial outer membrane protein binding central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3) 16 GGCAGTCACCCCTGGACATTT 0.612000 OREG0021818 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 93 0 0 1 0 0 DCAF8 50717 broad.mit.edu 37 1 160210143 160210143 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:160210143G>T ENST00000368073.3 - 4 501 c.67C>A c.(67-69)Cca>Aca p.P23T DCAF8_ENST00000556710.1_Missense_Mutation_p.P177T|DCAF8_ENST00000608310.1_Missense_Mutation_p.P177T|DCAF8_ENST00000475733.1_Missense_Mutation_p.P23T|DCAF8_ENST00000368074.1_Missense_Mutation_p.P23T|DCAF8_ENST00000610139.1_Missense_Mutation_p.P23T|DCAF8_ENST00000326837.2_Missense_Mutation_p.P23T Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 23 CUL4 RING ubiquitin ligase complex protein binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1) 33 ATCTCCTCTGGACTGCTAGAC 0.498000 5 64 0.0215528 0.0216457 1 1 0 GRN 2896 broad.mit.edu 37 17 42428109 42428109 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:42428109G>A ENST00000053867.3 + 7 711 c.649G>A c.(649-651)Gat>Aat p.D217N GRN_ENST00000589265.1_Intron NM_002087.2 NP_002078.1 P28799 GRN_HUMAN granulin 217 signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CCGGTGCCCTGATGGTTCTAC 0.617000 OREG0024459 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 52 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 91021045 91021045 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:91021045C>T ENST00000268182.5 + 26 3377 c.3253C>T c.(3253-3255)Ctc>Ttc p.L1085F IQGAP1_ENST00000560738.1_Missense_Mutation_p.L513F NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1085 C1.|Ras-GAP. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) TGACAAATCTCTCAACATCAA 0.428000 30 22 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215813432 215813432 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:215813432G>A ENST00000272895.7 - 47 7211 c.6992C>T c.(6991-6993)tCa>tTa p.S2331L ABCA12_ENST00000389661.4_Missense_Mutation_p.S2013L|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2331 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GCCAACTAATGAGCTGTGAGA 0.418000 17 24 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83877885 83877885 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:83877885G>A ENST00000349129.2 + 39 7657 c.7397G>A c.(7396-7398)tGa>tAa p.*2466* PGM3_ENST00000513973.1_3'UTR|PGM3_ENST00000512866.1_Intron|DOPEY1_ENST00000369739.3_Silent_p.*2477*|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Silent_p.*2370* NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 0 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) ATAAAAACTTGAGCACCATTG 0.358000 3 22 0 0 1 0 0 TBRG4 9238 broad.mit.edu 37 7 45142071 45142071 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:45142071G>A ENST00000258770.3 - 7 1317 c.1196C>T c.(1195-1197)tCa>tTa p.S399L TBRG4_ENST00000361278.3_Missense_Mutation_p.S289L|TBRG4_ENST00000494076.1_Missense_Mutation_p.S399L|TBRG4_ENST00000395655.4_Missense_Mutation_p.S289L NM_004749.3 NP_004740.2 Q969Z0 TBRG4_HUMAN transforming growth factor beta regulator 4 399 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2) 17 TGGCAGCTCTGACCCCAGCTT 0.607000 26 37 0 0 1 0 0 UBXN2B 137886 broad.mit.edu 37 8 59358548 59358548 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:59358548G>T ENST00000399598.2 + 7 876 c.754G>T c.(754-756)Gat>Tat p.D252Y NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 252 UBX. cytosol|endoplasmic reticulum|Golgi apparatus|nucleus p.D252N(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 TCTTATTGATGATTCAGTGCC 0.363000 30 52 2.80507e-11 2.97986e-11 1 1 0 ZFP37 7539 broad.mit.edu 37 9 115805519 115805519 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:115805519G>C ENST00000374227.3 - 4 1406 c.1379C>G c.(1378-1380)cCc>cGc p.P460R ZFP37_ENST00000553380.1_Missense_Mutation_p.P475R|ZFP37_ENST00000555206.1_Missense_Mutation_p.P461R NM_001282515.1|NM_001282518.1 NP_001269444.1|NP_001269447.1 Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 460 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 ACATTCAAAGGGTTTCTCACC 0.353000 10 71 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178408586 178408586 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:178408586C>T ENST00000448150.3 + 6 1468 c.650C>T c.(649-651)tCa>tTa p.S217L RASAL2_ENST00000462775.1_Missense_Mutation_p.S87L|RASAL2_ENST00000367649.3_Missense_Mutation_p.S235L NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 87 C2. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 CTAAAAGAGTCACGTTCCCAT 0.443000 4 39 0 0 1 0 0 ARID5B 84159 broad.mit.edu 37 10 63661479 63661479 + Missense_Mutation SNP A A C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:63661479A>C ENST00000279873.7 + 1 421 c.11A>C c.(10-12)aAc>aCc p.N4T NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 4 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) ATGGAGCCCAACTCACTCCAG 0.577000 28 39 0 0 1 0 0 NFKB2 4791 broad.mit.edu 37 10 104157414 104157414 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:104157414A>G ENST00000369966.3 + 8 883 c.633A>G c.(631-633)ccA>ccG p.P211P NFKB2_ENST00000428099.1_Silent_p.P211P|NFKB2_ENST00000189444.6_Silent_p.P211P NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 211 RHD. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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 Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) CCCTGAAGCCAGTCATCTCCC 0.577000 T IGH@ B-NHL 84 83 0 0 1 0 0 DNAAF1 123872 broad.mit.edu 37 16 84211435 84211435 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:84211435G>A ENST00000378553.5 + 12 2290 c.2166G>A c.(2164-2166)ccG>ccA p.P722P DNAAF1_ENST00000563818.1_3'UTR NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 722 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 TCCCAGCACCGAAAGCATCAT 0.517000 15 23 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130318930 130318930 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:130318930C>T ENST00000299164.2 + 1 62 c.62C>T c.(61-63)cCa>cTa p.P21L NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 21 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GGCTCTGAGCCAGAGCGGGAG 0.677000 9 18 0 0 1 0 0 SNCA 6622 broad.mit.edu 37 4 90756716 90756716 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:90756716C>T ENST00000394989.2 - 2 365 c.103G>A c.(103-105)Gag>Aag p.E35K SNCA_ENST00000502987.1_Missense_Mutation_p.E35K|SNCA_ENST00000505199.1_Missense_Mutation_p.E35K|SNCA_ENST00000508895.1_Missense_Mutation_p.E35K|SNCA_ENST00000506244.1_Missense_Mutation_p.E35K|SNCA_ENST00000345009.4_Missense_Mutation_p.E35K|SNCA_ENST00000420646.2_Missense_Mutation_p.E35K|SNCA_ENST00000394991.3_Missense_Mutation_p.E35K|SNCA_ENST00000394986.1_Missense_Mutation_p.E35K|SNCA_ENST00000336904.3_Missense_Mutation_p.E35K P37840 SYUA_HUMAN synuclein, alpha (non A4 component of amyloid precursor) 35 4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4). activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|ovary(1) 8 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.42e-05) Melatonin(DB01065) AGAACACCCTCTTTTGTCTTT 0.448000 42 95 0 0 1 0 0 CAPNS2 84290 broad.mit.edu 37 16 55601052 55601052 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:55601052G>A ENST00000457326.2 + 1 469 c.384G>A c.(382-384)gtG>gtA p.V128V LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron NM_032330.1 NP_115706.1 Q96L46 CPNS2_HUMAN calpain, small subunit 2 128 EF-hand 1. cytoplasm|plasma membrane calcium ion binding central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2) 7 GGAGCATTGTGTCTGTCATGG 0.423000 15 76 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20295867 20295867 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:20295867C>T ENST00000568211.1 + 1 260 c.260C>T c.(259-261)tCt>tTt p.S87F OR4N2_ENST00000315947.1_Missense_Mutation_p.S87F Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GACTTCCTCTCTGCGAAGAAG 0.522000 21 126 0 0 1 0 0 VPS52 6293 broad.mit.edu 37 6 33238055 33238055 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:33238055A>G ENST00000445902.2 - 2 314 c.96T>C c.(94-96)ggT>ggC p.G32G VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_5'UTR|VPS52_ENST00000478934.1_5'UTR NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 32 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 GCCCAGGACCACCCGCCTGGA 0.483000 22 61 0 0 1 0 0 CCDC50 152137 broad.mit.edu 37 3 191078907 191078907 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:191078907A>G ENST00000392455.3 + 4 887 c.289A>G c.(289-291)Att>Gtt p.I97V CCDC50_ENST00000392456.3_Missense_Mutation_p.I97V NM_174908.3 NP_777568.1 Q8IVM0 CCD50_HUMAN coiled-coil domain containing 50 97 cytoplasm protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1) 23 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) GAAGCTGGCTATTGAGGCAGA 0.408000 22 32 0 0 1 0 0 GDE1 51573 broad.mit.edu 37 16 19533210 19533210 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:19533210C>T ENST00000353258.3 - 1 257 c.77G>A c.(76-78)cGg>cAg p.R26Q NM_016641.3 NP_057725.1 Q9NZC3 GDE1_HUMAN glycerophosphodiester phosphodiesterase 1 26 glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 13 GACCGGGCTCCGCGTCACCAG 0.682000 3 9 0 0 1 0 0 C16orf86 388284 broad.mit.edu 37 16 67702366 67702366 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:67702366G>A ENST00000403458.4 + 4 972 c.817G>A c.(817-819)Gag>Aag p.E273K NM_001012984.2 NP_001013002.2 Q6ZW13 CP086_HUMAN chromosome 16 open reading frame 86 273 endometrium(2)|lung(4) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GGCTGGAGAGGAGCCTGGGGG 0.642000 OREG0023886 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 7 0 0 1 0 0 CDK5RAP3 80279 broad.mit.edu 37 17 46052586 46052586 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:46052586G>A ENST00000536708.2 + 6 580 c.471G>A c.(469-471)caG>caA p.Q157Q CDK5RAP3_ENST00000338399.4_Silent_p.Q132Q NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 132 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 TGAAGAAGCAGATTGCCAAGT 0.572000 68 72 0 0 1 0 0 C14orf142 84520 broad.mit.edu 37 14 93673293 93673293 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:93673293G>A ENST00000306954.4 - 1 146 c.90C>T c.(88-90)ttC>ttT p.F30F RP11-371E8.4_ENST00000557574.1_Intron|RP11-371E8.4_ENST00000557048.1_Intron NM_032490.4 NP_115879.2 Q9BXV9 CN142_HUMAN chromosome 14 open reading frame 142 30 endometrium(1)|skin(1) 2 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203) ACAGGCCCTGGAAAGGGTCGC 0.642000 OREG0022885 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 53 0 0 1 0 0 GCC1 79571 broad.mit.edu 37 7 127224309 127224309 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:127224309G>C ENST00000321407.2 - 1 1352 c.928C>G c.(928-930)Cga>Gga p.R310G GCC1_ENST00000497650.1_Intron NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 310 Golgi membrane|plasma membrane protein binding p.R310*(1) breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TTCTCATCTCGAATGGCCTGC 0.527000 OREG0003809 type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 32 71 0 0 1 0 0 DNAAF2 55172 broad.mit.edu 37 14 50101217 50101217 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:50101217C>T ENST00000298292.8 - 1 731 c.651G>A c.(649-651)ccG>ccA p.P217P DNAAF2_ENST00000406043.3_Silent_p.P217P NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 217 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 GAGGACCCTTCGGCTCCCCGT 0.721000 5 11 0 0 1 0 0 FAXDC2 10826 broad.mit.edu 37 5 154200897 154200897 + Silent SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:154200897G>T ENST00000326080.5 - 8 1191 c.768C>A c.(766-768)atC>atA p.I256I FAXDC2_ENST00000517938.1_Silent_p.I233I NM_032385.3 NP_115761.2 fatty acid hydroxylase domain containing 2 TGGTGGTGATGATGAGGGCCA 0.537000 9 58 0.000274275 0.000281112 1 1 0 PPM1A 5494 broad.mit.edu 37 14 60750163 60750163 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:60750163G>A ENST00000395076.4 + 2 1172 c.742G>A c.(742-744)Gaa>Aaa p.E248K PPM1A_ENST00000325658.3_Missense_Mutation_p.E248K|PPM1A_ENST00000325642.3_Missense_Mutation_p.E321K|PPM1A_ENST00000529574.1_Missense_Mutation_p.E248K NM_021003.4 NP_066283.1 P35813 PPM1A_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1A 248 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) TATGGGAAATGAAGAGCTCTG 0.403000 18 80 0 0 1 0 0 SLC22A15 55356 broad.mit.edu 37 1 116519252 116519252 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:116519252G>A ENST00000369503.4 + 1 134 c.4G>A c.(4-6)Gag>Aag p.E2K SLC22A15_ENST00000369502.1_Missense_Mutation_p.E2K NM_018420.2 NP_060890.2 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 2 ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GCCCGCCATGGAGGTGGAGGA 0.731000 5 17 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44922763 44922763 + Nonsense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chrX:44922763C>T ENST00000377967.4 + 16 1665 c.1624C>T c.(1624-1626)Cag>Tag p.Q542* KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q497*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q463*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q549* NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 542 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 CTCTGGCCAGCAGCCACAGCT 0.562000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 15 13 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128658131 128658131 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:128658131C>T ENST00000393245.1 - 2 574 c.201G>A c.(199-201)atG>atA p.M67I TNPO3_ENST00000265388.5_Missense_Mutation_p.M67I|TNPO3_ENST00000482320.1_Start_Codon_SNP_p.M1I|TNPO3_ENST00000471166.1_Missense_Mutation_p.M67I|TNPO3_ENST00000471234.1_Missense_Mutation_p.M67I NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 67 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 TCTTCATTTTCATGGTCTGTG 0.443000 20 65 0 0 1 0 0 CPNE3 8895 broad.mit.edu 37 8 87568347 87568347 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:87568347G>A ENST00000521271.1 + 16 1434 c.1272G>A c.(1270-1272)ttG>ttA p.L424L CPNE3_ENST00000198765.4_Silent_p.L424L NM_003909.3 NP_003900.1 O75131 CPNE3_HUMAN copine III 424 VWFA. lipid metabolic process|vesicle-mediated transport cytosol calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 23 TTGTGCTTTTGATTATTACTG 0.423000 71 99 0 0 1 0 0 MIOS 54468 broad.mit.edu 37 7 7625397 7625397 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:7625397A>G ENST00000340080.4 + 7 2200 c.1779A>G c.(1777-1779)gcA>gcG p.A593A MIOS_ENST00000405785.1_Silent_p.A593A NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 593 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TCATGTTTGCATTTCTGACAA 0.363000 40 88 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108160488 108160488 + Nonsense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:108160488C>T ENST00000278616.4 + 29 4781 c.4396C>T c.(4396-4398)Cga>Tga p.R1466* ATM_ENST00000452508.2_Nonsense_Mutation_p.R1466* NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1466 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.R1466*(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CTTTGTTCTTCGAGACGTTAT 0.308000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 57 84 0 0 1 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112930771 112930771 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:112930771C>T ENST00000374530.3 + 11 3486 c.3306C>T c.(3304-3306)aaC>aaT p.N1102N AKAP2_ENST00000259318.7_Silent_p.N858N|AKAP2_ENST00000434623.2_Silent_p.N960N|AKAP2_ENST00000374525.1_Silent_p.N947N|PALM2-AKAP2_ENST00000302798.7_Silent_p.N1089N|AKAP2_ENST00000510514.5_Silent_p.N1089N|AKAP2_ENST00000555236.1_Silent_p.N1102N|AKAP2_ENST00000482335.1_3'UTR NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 858 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 AAGAAGACAACGAATAAACTT 0.453000 4 41 0 0 1 0 0 DDX17 10521 broad.mit.edu 37 22 38882115 38882115 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr22:38882115G>A ENST00000396821.3 - 13 2120 c.2021C>T c.(2020-2022)tCa>tTa p.S674L DDX17_ENST00000381633.3_Missense_Mutation_p.S595L|DDX17_ENST00000444597.1_Missense_Mutation_p.S124L NM_001098504.1|NM_006386.4 NP_001091974|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 593 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) AGAGCTCTGTGAACTTCTCCC 0.537000 35 29 0 0 1 0 0 XRCC2 7516 broad.mit.edu 37 7 152345860 152345860 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:152345860T>C ENST00000359321.1 - 3 795 c.710A>G c.(709-711)cAc>cGc p.H237R XRCC2_ENST00000495707.1_5'UTR NM_005431.1 NP_005422.1 O43543 XRCC2_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 2 237 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2) 11 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) AAACATCCTGTGCTTCACCAG 0.383000 Homologous recombination 71 76 0 0 1 0 0 IDS 3423 broad.mit.edu 37 X 148564458 148564458 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chrX:148564458G>A ENST00000340855.6 - 9 1681 c.1472C>T c.(1471-1473)tCc>tTc p.S491F IDS_ENST00000422081.2_Missense_Mutation_p.S280F|IDS_ENST00000541269.1_Missense_Mutation_p.S280F|IDS_ENST00000537071.1_Missense_Mutation_p.S94F NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase 491 S -> F (in MPS2; mild form). lysosome iduronate-2-sulfatase activity|metal ion binding NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GGTGCGTATGGAATAGCCCAT 0.433000 53 34 0 0 1 0 0 STXBP1 6812 broad.mit.edu 37 9 130425614 130425614 + Missense_Mutation SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:130425614C>A ENST00000373302.3 + 7 699 c.560C>A c.(559-561)cCg>cAg p.P187Q STXBP1_ENST00000373299.1_Missense_Mutation_p.P187Q NM_003165.3 NP_003156.1 P61764 STXB1_HUMAN syntaxin binding protein 1 187 axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2) 23 AAGGAGTACCCGGCTGTGCGG 0.612000 10 61 2.74318e-10 2.90088e-10 1 1 0 MTF1 4520 broad.mit.edu 37 1 38281174 38281174 + Missense_Mutation SNP A A C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:38281174A>C ENST00000373036.4 - 11 2036 c.1896T>G c.(1894-1896)tgT>tgG p.C632W NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 632 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ACTGACACTGACATGCCTCTT 0.587000 7 26 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95189857 95189857 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:95189857G>C ENST00000027335.3 - 4 367 c.243C>G c.(241-243)aaC>aaG p.N81K CDH17_ENST00000441892.2_Missense_Mutation_p.N81K|CDH17_ENST00000450165.2_Missense_Mutation_p.N81K NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 81 Cadherin 1. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CCAAGGCTCTGTTGTAATACA 0.453000 7 114 0 0 1 0 0 OAZ1 4946 broad.mit.edu 37 19 2273027 2273027 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:2273027C>T ENST00000583542.4 + 6 705 c.631C>T c.(631-633)Ccc>Tcc p.P211S OAZ1_ENST00000602676.2_Missense_Mutation_p.P203S|OAZ1_ENST00000588673.2_Missense_Mutation_p.P232S|OAZ1_ENST00000582888.4_Missense_Mutation_p.P201S|OAZ1_ENST00000322297.4_Missense_Mutation_p.P202S P54368 OAZ1_HUMAN ornithine decarboxylase antizyme 1 polyamine biosynthetic process|regulation of cellular amino acid metabolic process cytosol ornithine decarboxylase inhibitor activity endometrium(1)|lung(2) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) L-Ornithine(DB00129) ACCGGGGCATCCCCTTGTCCC 0.632000 9 14 0 0 1 0 0 RFX2 5990 broad.mit.edu 37 19 5994918 5994918 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:5994918G>A ENST00000303657.5 - 18 2249 c.2100C>T c.(2098-2100)gaC>gaT p.D700D RFX2_ENST00000359161.3_Silent_p.D700D|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Silent_p.D675D NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 700 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GGCTGCGGGCGTCTGGGCCCG 0.682000 19 25 0 0 1 0 0 SLC44A4 80736 broad.mit.edu 37 6 31836983 31836983 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:31836983G>A ENST00000544672.1 - 13 1250 c.954C>T c.(952-954)atC>atT p.I318I SLC44A4_ENST00000375562.4_Silent_p.I352I|SLC44A4_ENST00000229729.6_Silent_p.I394I NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 394 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) CGGGGGAGCTGATGTTGGATG 0.572000 3 10 0 0 1 0 0 RPS4Y1 6192 broad.mit.edu 37 Y 2722723 2722723 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chrY:2722723G>C ENST00000250784.8 + 5 582 c.443G>C c.(442-444)cGc>cCc p.R148P RPS4Y1_ENST00000477725.1_3'UTR NM_001008.3 NP_000999.1 ribosomal protein S4, Y-linked 1 kidney(1)|lung(2) 3 CGAACCATCCGCTACCCAGAT 0.423000 28 69 0 0 1 0 0 PLXNC1 10154 broad.mit.edu 37 12 94542869 94542869 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:94542869G>T ENST00000258526.4 + 1 371 c.122G>T c.(121-123)cGg>cTg p.R41L NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 41 Sema. axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CCCGTGTGGCGGTCGGAGCAA 0.756000 2 1 0.0784 0.078625 1 1 0 SP4 6671 broad.mit.edu 37 7 21469343 21469343 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:21469343C>T ENST00000222584.3 + 3 778 c.560C>T c.(559-561)tCa>tTa p.S187L NM_003112.3 NP_003103.2 Q02446 SP4_HUMAN Sp4 transcription factor 187 Poly-Ser. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 ACTAGTAGTTCATCTCTACAG 0.388000 21 47 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65199521 65199521 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:65199521G>A ENST00000358691.5 - 6 452 c.286C>T c.(286-288)Cgg>Tgg p.R96W HELZ_ENST00000580168.1_Missense_Mutation_p.R96W|HELZ_ENST00000580662.1_5'UTR NM_014877.3 NP_055692 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AGCACTGCCCGAAAGGCATCT 0.468000 29 66 0 0 1 0 0 GABPB2 126626 broad.mit.edu 37 1 151065763 151065763 + Missense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:151065763C>G ENST00000368918.3 + 4 703 c.372C>G c.(370-372)atC>atG p.I124M GABPB2_ENST00000368917.1_Missense_Mutation_p.I124M|GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Missense_Mutation_p.I124M NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 124 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) AGTTACTTATCAAATATGGAG 0.448000 92 36 0 0 1 0 0 KRT82 3888 broad.mit.edu 37 12 52789989 52789989 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:52789989C>T ENST00000257974.2 - 7 1173 c.1096G>A c.(1096-1098)Gag>Aag p.E366K RP3-416H24.4_ENST00000547174.1_RNA NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 366 Coil 2.|Rod. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) TGCTCTGCCTCAGCTATGGCA 0.632000 4 17 0 0 1 0 0 FBXO28 23219 broad.mit.edu 37 1 224321802 224321802 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:224321802C>T ENST00000366862.5 + 3 447 c.404C>T c.(403-405)tCa>tTa p.S135L FBXO28_ENST00000424254.2_Missense_Mutation_p.S135L NM_015176.3 NP_055991.1 Q9NVF7 FBX28_HUMAN F-box protein 28 135 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1) 10 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) AGAAACCATTCATTAGCTCGT 0.343000 6 7 0 0 1 0 0 TRIM38 10475 broad.mit.edu 37 6 25972267 25972267 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:25972267C>T ENST00000357085.3 + 5 1154 c.678C>T c.(676-678)ctC>ctT p.L226L TRIM38_ENST00000349458.3_Silent_p.L226L NM_006355.3 NP_006346.1 O00635 TRI38_HUMAN tripartite motif containing 38 226 positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 23 GCAATGAACTCAAGAGCCACA 0.483000 7 33 0 0 1 0 0 MACC1 346389 broad.mit.edu 37 7 20198509 20198509 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:20198509G>A ENST00000400331.5 - 5 1783 c.1475C>T c.(1474-1476)cCc>cTc p.P492L MACC1_ENST00000332878.4_Missense_Mutation_p.P492L|MACC1_ENST00000589011.1_Missense_Mutation_p.P492L NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 492 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 TTCACCATTGGGAGGCTCCAC 0.423000 28 57 0 0 1 0 0 TMEM39B 55116 broad.mit.edu 37 1 32542402 32542402 + Silent SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:32542402C>G ENST00000427288.1 + 5 525 c.45C>G c.(43-45)acC>acG p.T15T TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000456834.2_Silent_p.T130T|TMEM39B_ENST00000336294.5_Silent_p.T130T|TMEM39B_ENST00000373634.4_Intron Q9GZU3 TM39B_HUMAN transmembrane protein 39B 130 integral to membrane endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TGATGGTGACCACCATCGTTC 0.577000 15 49 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113265434 113265434 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:113265434A>G ENST00000401783.2 - 6 1703 c.1367T>C c.(1366-1368)aTg>aCg p.M456T SVEP1_ENST00000302728.8_Missense_Mutation_p.M456T|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.M433T|SVEP1_ENST00000374469.1_Missense_Mutation_p.M433T NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 456 Sushi 2. 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 CTTATATAACATTTCCCTTGT 0.428000 27 55 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61432167 61432167 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:61432167C>T ENST00000424789.2 + 12 1780 c.1776C>T c.(1774-1776)ttC>ttT p.F592F TANC2_ENST00000389520.4_Silent_p.F592F NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 592 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 TGCTGCCTTTCCATAGGATTT 0.443000 19 53 0 0 1 0 0 FBXO41 150726 broad.mit.edu 37 2 73495886 73495886 + Silent SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:73495886C>A ENST00000521871.1 - 2 1288 c.873G>T c.(871-873)gtG>gtT p.V291V FBXO41_ENST00000520530.2_Silent_p.V291V|FBXO41_ENST00000295133.5_Silent_p.V352V Q8TF61 FBX41_HUMAN F-box protein 41 291 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 GTTCCTTGTGCACCAGGTCCT 0.657000 5 8 0.000602214 0.000614522 1 1 0 STXBP5L 9515 broad.mit.edu 37 3 120976135 120976135 + Missense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:120976135C>G ENST00000273666.6 + 17 2058 c.1787C>G c.(1786-1788)aCt>aGt p.T596S STXBP5L_ENST00000471454.1_Missense_Mutation_p.T596S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.T596S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.T596S|STXBP5L_ENST00000497029.1_Missense_Mutation_p.T596S NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 596 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AGCACTAACACTGTTGCTAGT 0.393000 38 77 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C A rs28934576 by1000genomes TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:7577120C>A ENST00000420246.2 - 8 950 c.818G>T c.(817-819)cGt>cTt p.R273L TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and 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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 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) 15 7 6.72482e-11 7.13301e-11 1 1 0 ZNF148 7707 broad.mit.edu 37 3 124952389 124952389 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:124952389T>C ENST00000360647.4 - 9 1666 c.1181A>G c.(1180-1182)aAa>aGa p.K394R SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.K394R|ZNF148_ENST00000485866.1_Missense_Mutation_p.K394R|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Missense_Mutation_p.K394R NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 394 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 ACTATTAATTTTTTTGAGAAC 0.383000 32 54 0 0 1 0 0 APCDD1 147495 broad.mit.edu 37 18 10468575 10468575 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr18:10468575C>T ENST00000355285.5 + 2 522 c.168C>T c.(166-168)ctC>ctT p.L56L APCDD1_ENST00000578882.1_Silent_p.L56L NM_153000.4 NP_694545.1 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding p.L56L(1) NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 READ - Rectum adenocarcinoma(15;0.08) ATCACATGCTCAAACATCTCC 0.542000 11 64 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18280178 18280178 + Silent SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:18280178T>C ENST00000377369.2 + 8 1641 c.1368T>C c.(1366-1368)caT>caC p.H456H SLC39A12_ENST00000539911.1_Silent_p.H322H|SLC39A12_ENST00000377374.4_Silent_p.H456H|SLC39A12_ENST00000377371.3_Silent_p.H456H NM_001145195.1|NM_001282733.1|NM_001282734.1 NP_001138667.1|NP_001269662.1|NP_001269663.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 456 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 GAGGCATCCATGGATTTTTCT 0.328000 37 48 0 0 1 0 0 ERCC6-PGBD3 101243544 broad.mit.edu 37 10 50725148 50725148 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:50725148G>C ENST00000515869.1 - 6 1537 c.1417C>G c.(1417-1419)Cta>Gta p.L473V PGBD3_ENST00000603152.1_Missense_Mutation_p.L473V|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.L473V|PGBD3_ENST00000508005.2_Missense_Mutation_p.L5V|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000374127.3_Missense_Mutation_p.L5V NM_001277059.1 NP_001263988.1 TGTAAACTTAGTGTTCGAGGC 0.383000 8 84 0 0 1 0 0 SSR2 6746 broad.mit.edu 37 1 155981632 155981632 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:155981632C>T ENST00000295702.4 - 5 481 c.410G>A c.(409-411)cGg>cAg p.R137Q SSR2_ENST00000480567.1_Missense_Mutation_p.R137Q|SSR2_ENST00000496742.1_Missense_Mutation_p.G68R|SSR2_ENST00000529008.1_Intron NM_003145.3 NP_003136.1 P43308 SSRB_HUMAN signal sequence receptor, beta (translocon-associated protein beta) 137 cotranslational protein targeting to membrane endoplasmic reticulum membrane|integral to membrane signal sequence binding p.R137L(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1) 10 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GTCAAACTCCCGCTGAGCCAG 0.483000 9 71 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62228587 62228587 + Splice_Site SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:62228587G>A ENST00000371158.2 + 2 136 c.e2+1 INADL_ENST00000316485.6_Splice_Site NM_176877.2 NP_795352 Q8NI35 INADL_HUMAN InaD-like (Drosophila) intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CCTGCTACAGGTATACTGGAT 0.259000 70 37 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80735899 80735899 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:80735899T>C ENST00000458043.2 + 43 5201 c.5195T>C c.(5194-5196)aTt>aCt p.I1732T OTOGL_ENST00000547103.1_Missense_Mutation_p.I1720T NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 AGCCAGTGCATTGATTTATTA 0.313000 5 9 0 0 1 0 0 FTSJ2 29960 broad.mit.edu 37 7 2275054 2275054 + Silent SNP T T A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:2275054T>A ENST00000242257.8 - 3 472 c.444A>T c.(442-444)gcA>gcT p.A148A FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000407040.1_Silent_p.A54A NM_013393.1 NP_037525.1 Q9UI43 RRMJ2_HUMAN FtsJ RNA methyltransferase homolog 2 (E. coli) 148 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) GAATCACATCTGCTCTCCTGC 0.577000 13 59 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57327640 57327640 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:57327640G>A ENST00000326441.9 - 10 2533 c.2170C>T c.(2170-2172)Cat>Tat p.H724Y PEG3_ENST00000593695.1_Missense_Mutation_p.H598Y|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H724Y|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.H600Y|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 724 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GGCCCACTATGAATGACAGAT 0.443000 15 86 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48691105 48691105 + Nonsense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:48691105G>A ENST00000544264.1 - 9 5675 c.5395C>T c.(5395-5397)Cag>Tag p.Q1799* CELSR3_ENST00000164024.4_Nonsense_Mutation_p.Q1799* Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1799 Laminin G-like 2. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGGACCCCCTGCGTTGCCCGT 0.587000 6 52 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26491923 26491923 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:26491923C>T ENST00000265944.5 + 34 4783 c.4617C>T c.(4615-4617)ttC>ttT p.F1539F MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1539 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TGGAAGATTTCTATTATAAGG 0.348000 27 28 0 0 1 0 0 KIF27 55582 broad.mit.edu 37 9 86452071 86452071 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:86452071G>A ENST00000297814.2 - 18 4194 c.4051C>T c.(4051-4053)Cat>Tat p.H1351Y RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.2_ENST00000439378.3_RNA|RP11-575L7.2_ENST00000412069.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.H1254Y|RP11-575L7.2_ENST00000458016.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.H1285Y|RP11-575L7.2_ENST00000417672.1_RNA NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 1351 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 GTGACACCATGAAGTCGTCCC 0.413000 32 51 0 0 1 0 0 HSD11B1L 374875 broad.mit.edu 37 19 5687304 5687304 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:5687304G>A ENST00000581521.1 + 8 895 c.420G>A c.(418-420)gtG>gtA p.V140V HSD11B1L_ENST00000581773.1_Silent_p.V140V|HSD11B1L_ENST00000577917.1_Silent_p.V59V|HSD11B1L_ENST00000411793.2_Silent_p.V6V|HSD11B1L_ENST00000339423.2_Silent_p.V140V|HSD11B1L_ENST00000581893.1_Silent_p.V6V|HSD11B1L_ENST00000583928.1_Silent_p.V6V|HSD11B1L_ENST00000301382.4_Silent_p.V59V|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000423665.2_Silent_p.V140V|HSD11B1L_ENST00000342970.2_Silent_p.V53V|RPL36_ENST00000579649.1_Intron|RPL36_ENST00000582380.2_Intron Q7Z5J1 DHI1L_HUMAN hydroxysteroid (11-beta) dehydrogenase 1-like 140 extracellular region binding|oxidoreductase activity TAAACTTTGTGAGCTACGTGC 0.716000 12 21 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101877354 101877354 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:101877354C>T ENST00000360264.3 + 22 3509 c.3489C>T c.(3487-3489)acC>acT p.T1163T CUX1_ENST00000292535.7_Silent_p.T1152T|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.T994T|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Silent_p.T1096T|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Silent_p.T1050T|CUX1_ENST00000549414.2_Silent_p.T1130T NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 1152 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 TTGGGGAGACCATCTTAGGGC 0.547000 8 65 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1251361 1251361 + Nonsense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:1251361C>G ENST00000447027.1 + 11 1414 c.1356C>G c.(1354-1356)taC>taG p.Y452* MUC5B_ENST00000529681.1_Nonsense_Mutation_p.Y449* Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 449 VWFD 2. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACTGCAGCTACGTTCTGTCCA 0.642000 18 89 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44019601 44019601 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:44019601C>T ENST00000359947.4 + 5 708 c.368C>T c.(367-369)tCa>tTa p.S123L PTPRF_ENST00000372414.3_Missense_Mutation_p.S123L|PTPRF_ENST00000438120.1_Missense_Mutation_p.S123L|PTPRF_ENST00000372413.3_Missense_Mutation_p.S123L NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 123 Ig-like C2-type 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GCCAAGCTCTCAGTGCTCGAA 0.602000 8 13 0 0 1 0 0 EHD3 30845 broad.mit.edu 37 2 31457657 31457657 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:31457657A>G ENST00000322054.5 + 1 455 c.170A>G c.(169-171)aAc>aGc p.N57S EHD3_ENST00000541626.1_Missense_Mutation_p.N57S NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 57 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) GACTTCGACAACAAGCCCATG 0.622000 20 39 0 0 1 0 0 ZNF398 57541 broad.mit.edu 37 7 148851342 148851342 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:148851342G>A ENST00000475153.1 + 2 597 c.330G>A c.(328-330)caG>caA p.Q110Q ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000540950.1_Silent_p.Q115Q|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR Q8TD17 ZN398_HUMAN zinc finger protein 398 110 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) GGCTGCTGCAGAGGCGGCTGG 0.567000 62 50 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7786165 7786165 + Missense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:7786165C>G ENST00000358415.4 + 18 2496 c.2330C>G c.(2329-2331)aCt>aGt p.T777S ITIH2_ENST00000379587.4_Missense_Mutation_p.T766S NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 777 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GAAATCAGCACTGAGACCATC 0.438000 14 67 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138480 126138480 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:126138480G>A ENST00000299308.3 + 9 2469 c.2461G>A c.(2461-2463)Gaa>Aaa p.E821K TMEM132B_ENST00000535886.1_Missense_Mutation_p.E333K NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 821 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CATAGAGCGCGAAGGAAACCA 0.493000 20 25 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122641217 122641217 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:122641217C>T ENST00000195173.4 - 11 1653 c.1350G>A c.(1348-1350)ctG>ctA p.L450L SEMA5B_ENST00000357599.3_Silent_p.L450L|SEMA5B_ENST00000451055.2_Silent_p.L504L Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 450 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) CCTCGCTCATCAGGAAGAGGC 0.672000 6 12 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131916131 131916131 + Missense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:131916131C>G ENST00000286355.5 - 7 3890 c.1798G>C c.(1798-1800)Gat>Cat p.D600H ADCY8_ENST00000377928.3_Missense_Mutation_p.D600H NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 600 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TTGACGATATCTTCAGGCAAG 0.478000 HNSCC(32;0.087) 18 129 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23816014 23816014 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:23816014G>A ENST00000264867.2 - 8 1211 c.1092C>T c.(1090-1092)ctC>ctT p.L364L PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 364 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) GTCCACCAGTGAGGACTGAGG 0.498000 15 72 0 0 1 0 0 C21orf33 8209 broad.mit.edu 37 21 45563204 45563204 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr21:45563204C>T ENST00000291577.6 + 6 732 c.639C>T c.(637-639)atC>atT p.I213I C21orf33_ENST00000348499.5_Silent_p.I182I NM_004649.6 NP_004640 P30042 ES1_HUMAN chromosome 21 open reading frame 33 213 I -> M (in Ref. 3; CAA68857). mitochondrion NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191) CAGAGGCCATCAAGGCCCTGG 0.642000 16 23 0 0 1 0 0 PBX2 5089 broad.mit.edu 37 6 32157485 32157485 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:32157485C>T ENST00000375050.4 - 1 478 c.208G>A c.(208-210)Gag>Aag p.E70K NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 70 transcription factor binding endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 GCCTGGGCCTCGTCCAGGCTC 0.647000 11 25 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117651426 117651426 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:117651426G>T ENST00000321322.6 - 2 327 c.326C>A c.(325-327)gCc>gAc p.A109D DSCAML1_ENST00000527706.1_Intron NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 49 Ig-like C2-type 1. 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) GGAGCCCGCGGCCGGGCAGGG 0.662000 7 48 1.6384e-10 1.73521e-10 1 1 0 PMS1 5378 broad.mit.edu 37 2 190728532 190728532 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:190728532A>G ENST00000441310.2 + 10 2153 c.1920A>G c.(1918-1920)gaA>gaG p.E640E PMS1_ENST00000409823.3_Silent_p.E601E|PMS1_ENST00000418224.3_Silent_p.E464E|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000432292.3_Silent_p.E464E NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 640 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) GAGCCATTGAACAGGAGTCAC 0.353000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 58 110 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85383030 85383030 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:85383030G>A ENST00000258888.5 + 5 1293 c.1126G>A c.(1126-1128)Gag>Aag p.E376K NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 376 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CACCATGACTGAGTACAAGAT 0.602000 18 24 0 0 1 0 0 CPT1A 1374 broad.mit.edu 37 11 68566745 68566745 + Missense_Mutation SNP C C T rs141191480 TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:68566745C>T ENST00000265641.5 - 6 788 c.634G>A c.(634-636)Ggt>Agt p.G212S CPT1A_ENST00000539743.1_Missense_Mutation_p.G212S|CPT1A_ENST00000540367.1_Missense_Mutation_p.G212S|CPT1A_ENST00000376618.2_Missense_Mutation_p.G212S NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 212 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) GGTCCAAGACCGACAGCAAAA 0.403000 14 42 0 0 1 0 0 RRP1B 23076 broad.mit.edu 37 21 45107738 45107738 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr21:45107738G>C ENST00000340648.4 + 13 1600 c.1483G>C c.(1483-1485)Gag>Cag p.E495Q NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 495 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) GTTGCCCCCAGAGGACATGTC 0.582000 24 73 0 0 1 0 0 CARD14 79092 broad.mit.edu 37 17 78162253 78162253 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:78162253G>A ENST00000573882.1 + 7 1289 c.753G>A c.(751-753)ctG>ctA p.L251L CARD14_ENST00000392434.2_Silent_p.L14L|CARD14_ENST00000344227.2_Silent_p.L251L|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Silent_p.L251L Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 251 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding p.L251L(1)|p.L14L(1) NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) AGCAGTCCCTGAGGACAGCCA 0.592000 28 29 0 0 1 0 0 TRIM24 8805 broad.mit.edu 37 7 138223425 138223425 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:138223425G>A ENST00000343526.4 + 7 1235 c.1020G>A c.(1018-1020)atG>atA p.M340I TRIM24_ENST00000415680.2_Missense_Mutation_p.M340I|TRIM24_ENST00000497516.1_3'UTR O15164 TIF1A_HUMAN tripartite motif containing 24 340 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 ACCATCGCATGAAACTTATGC 0.393000 42 106 0 0 1 0 0 MOGS 7841 broad.mit.edu 37 2 74691734 74691734 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:74691734G>A ENST00000233616.4 - 2 630 c.468C>T c.(466-468)ttC>ttT p.F156F MOGS_ENST00000452063.2_Silent_p.F50F|MOGS_ENST00000535045.1_Intron|MOGS_ENST00000462443.1_Intron|MOGS_ENST00000409065.1_Silent_p.F156F NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 156 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 GTTGGCGCCCGAAGGAGAGGC 0.647000 33 66 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101605830 101605830 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:101605830T>C ENST00000284395.5 + 33 5579 c.5179T>C c.(5179-5181)Tac>Cac p.Y1727H LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.Y1730H Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1730 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCTGGAGCCCTACATGGCCCC 0.622000 15 28 0 0 1 0 0 SLC38A10 124565 broad.mit.edu 37 17 79268677 79268677 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:79268677G>C ENST00000374759.3 - 1 428 c.45C>G c.(43-45)atC>atG p.I15M SLC38A10_ENST00000288439.5_Missense_Mutation_p.I15M NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 15 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TGCTGTTCACGATGTTCGTGA 0.687000 11 68 0 0 1 0 0 CHSY1 22856 broad.mit.edu 37 15 101718237 101718237 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:101718237C>T ENST00000254190.3 - 3 2240 c.1765G>A c.(1765-1767)Gat>Aat p.D589N CHSY1_ENST00000543813.1_5'UTR NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 589 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity p.R588fs*28(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATGCGGTAATCTCTCATCAGT 0.473000 15 15 0 0 1 0 0 TRIB2 28951 broad.mit.edu 37 2 12858545 12858545 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:12858545A>G ENST00000155926.4 + 1 1531 c.112A>G c.(112-114)Agt>Ggt p.S38G TRIB2_ENST00000405331.3_Missense_Mutation_p.S38G|TRIB2_ENST00000381465.2_Intron NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 38 negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GCCCAGCCAGAGTTTCAGCCC 0.542000 OREG0014450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 60 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 65032653 65032653 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:65032653G>T ENST00000394156.3 - 4 788 c.335C>A c.(334-336)gCc>gAc p.A112D CDH11_ENST00000268603.4_Missense_Mutation_p.A112D|CDH11_ENST00000566827.1_5'UTR P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 112 Cadherin 1. 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) CGTCTTGGTGGCATGAATGTT 0.498000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 6 27 3.59834e-05 3.72076e-05 1 1 0 KLF4 9314 broad.mit.edu 37 9 110249982 110249982 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:110249982C>T ENST00000374672.4 - 3 1166 c.693G>A c.(691-693)ctG>ctA p.L231L NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 231 Pro-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 GCGACGCCTTCAGCACGAACT 0.697000 5 3 0 0 1 0 0 ALDH3A2 224 broad.mit.edu 37 17 19576480 19576480 + Missense_Mutation SNP T T A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:19576480T>A ENST00000339618.4 + 10 1681 c.1460T>A c.(1459-1461)cTg>cAg p.L487Q ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.L487Q|ALDH3A2_ENST00000574597.1_3'UTR|ALDH3A2_ENST00000395575.2_Intron|ALDH3A2_ENST00000579855.1_Intron|ALDH3A2_ENST00000176643.6_Intron NM_001031806.1 NP_001026976.1 P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 0 cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development endoplasmic reticulum membrane|integral to membrane 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) NADH(DB00157) CAAGCTGTGCTGAGGAGAAAG 0.448000 31 197 0 0 1 0 0 SMC5 23137 broad.mit.edu 37 9 72962043 72962043 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:72962043C>T ENST00000361138.5 + 20 2688 c.2630C>T c.(2629-2631)tCa>tTa p.S877L SMC5_ENST00000471372.1_3'UTR NM_015110.3 NP_055925.2 Q8IY18 SMC5_HUMAN structural maintenance of chromosomes 5 877 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4) 35 GAAGAAAGATCAAGAGCTTCC 0.413000 9 34 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974757 21974757 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:21974757G>C ENST00000304494.5 - 1 340 c.70C>G c.(70-72)Cgg>Ggg p.R24G CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R24G|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R24G|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R24G|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 24 R -> C (in CMM2).|R -> P (in CMM2).|R -> Q (found in a patient with multiple primary melanoma; partial loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.0(1)|p.R22fs*14(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCCTCTACCCGACCCCGGGCC 0.736000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 16 13 0 0 1 0 0 TTL 150465 broad.mit.edu 37 2 113258869 113258869 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:113258869C>T ENST00000233336.6 + 4 747 c.556C>T c.(556-558)Ctt>Ttt p.L186F NM_153712.4 NP_714923.1 Q8NG68 TTL_HUMAN tubulin tyrosine ligase TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity breast(1)|large_intestine(2)|ovary(1) 4 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) CCAGAAATATCTTGAGCACCC 0.448000 T ETV6 ALL 29 18 0 0 1 0 0 MED9 55090 broad.mit.edu 37 17 17380536 17380536 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:17380536G>A ENST00000268711.3 + 1 237 c.181G>A c.(181-183)Gag>Aag p.E61K MED9_ENST00000580462.1_Missense_Mutation_p.E61K|MED9_ENST00000585041.1_3'UTR NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 61 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGGGAGGAAGAGAACTACTC 0.627000 14 17 0 0 1 0 0 ADNP 23394 broad.mit.edu 37 20 49508272 49508272 + Silent SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr20:49508272T>C ENST00000396029.3 - 5 3546 c.2979A>G c.(2977-2979)ccA>ccG p.P993P ADNP_ENST00000396032.3_Silent_p.P993P|ADNP_ENST00000371602.4_Silent_p.P993P|ADNP_ENST00000349014.3_Silent_p.P993P NM_001282531.1|NM_015339.2 NP_001269460.1|NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 993 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 ACCAGGTTCCTGGTTTCATTT 0.498000 35 58 0 0 1 0 0 FHIT 2272 broad.mit.edu 37 3 59737984 59737984 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:59737984C>T ENST00000468189.1 - 9 782 c.412G>A c.(412-414)Gaa>Aaa p.E138K FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000341848.4_Missense_Mutation_p.E138K|FHIT_ENST00000492590.1_Missense_Mutation_p.E138K|FHIT_ENST00000476844.1_Missense_Mutation_p.E138K P49789 FHIT_HUMAN fragile histidine triad 138 nucleotide metabolic process bis(5'-adenosyl)-triphosphatase activity|protein binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1) 12 all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408) UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448) GCTGCGGCTTCTGCTGCCATT 0.517000 T HMGA2 pleomorphic salivary gland adenoma Renal Cell Cancer associated with constitutional translocation of chromosome 3 12 57 0 0 1 0 0 HBS1L 10767 broad.mit.edu 37 6 135318736 135318736 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:135318736C>T ENST00000367837.5 - 6 804 c.598G>A c.(598-600)Gaa>Aaa p.E200K HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000527578.1_Missense_Mutation_p.E36K|HBS1L_ENST00000367824.4_Missense_Mutation_p.E36K|HBS1L_ENST00000367826.2_Missense_Mutation_p.E158K|HBS1L_ENST00000415177.2_Missense_Mutation_p.E135K NM_001145158.1|NM_006620.3 NP_001138630.1|NP_006611.1 Q9Y450 HBS1L_HUMAN HBS1-like (S. cerevisiae) 200 signal transduction GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) ATGGCATCTTCAATGGGCGGT 0.433000 22 67 0 0 1 0 0 TCF21 6943 broad.mit.edu 37 6 134210812 134210812 + Nonsense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:134210812C>T ENST00000367882.4 + 1 537 c.277C>T c.(277-279)Cga>Tga p.R93* TCF21_ENST00000237316.3_Nonsense_Mutation_p.R93*|RP3-323P13.2_ENST00000607573.1_RNA NM_003206.3 NP_003197.2 O43680 TCF21_HUMAN transcription factor 21 93 Helix-loop-helix motif. branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) GGCCCGCATGCGAGTGCTGAG 0.687000 10 69 0 0 1 0 0 CLCN2 1181 broad.mit.edu 37 3 184072067 184072067 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:184072067C>T ENST00000265593.4 - 15 1714 c.1543G>A c.(1543-1545)Gtg>Atg p.V515M CLCN2_ENST00000434054.2_Missense_Mutation_p.V471M|CLCN2_ENST00000344937.7_Missense_Mutation_p.V498M|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Missense_Mutation_p.V515M|CLCN2_ENST00000423355.2_3'UTR NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 515 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) GCCGTGGACACTGTGTGTGTC 0.627000 OREG0015949 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 21 0 0 1 0 0 C19orf45 374877 broad.mit.edu 37 19 7570448 7570448 + Missense_Mutation SNP T T G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:7570448T>G ENST00000361664.2 + 6 1082 c.941T>G c.(940-942)cTg>cGg p.L314R NM_198534.2 NP_940936.2 Q8NA69 CS045_HUMAN chromosome 19 open reading frame 45 314 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 TCGCACATCCTGAAAGGAAAT 0.607000 34 45 0 0 1 0 0 ZNF781 163115 broad.mit.edu 37 19 38160878 38160878 + Missense_Mutation SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:38160878C>A ENST00000358582.4 - 4 920 c.172G>T c.(172-174)Ggg>Tgg p.G58W ZNF781_ENST00000590008.1_Missense_Mutation_p.G58W|ZFP30_ENST00000586732.1_Intron NM_152605.3 NP_689818.2 Q8N8C0 ZN781_HUMAN zinc finger protein 781 58 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 TATGGTTTCCCACCAGTGTGA 0.388000 194 133 9.39698e-115 1.02954e-114 1 1 0 CCDC9 26093 broad.mit.edu 37 19 47761887 47761887 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:47761887G>A ENST00000221922.6 + 3 297 c.75G>A c.(73-75)cgG>cgA p.R25R NM_015603.2 NP_056418.1 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 25 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) AGGCTCTTCGGCGGAAGAATG 0.592000 45 60 0 0 1 0 0 SGK1 6446 broad.mit.edu 37 6 134496761 134496761 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:134496761G>A ENST00000413996.3 - 1 368 c.39C>T c.(37-39)ctC>ctT p.L13L SGK1_ENST00000367858.5_Intron|SGK1_ENST00000528577.1_Intron NM_001143678.1 NP_001137150.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 0 Necessary for localization to the cytoplasm. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) GCAGGGACTCGAGCCGGGCTC 0.726000 3 4 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167689372 167689372 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:167689372G>A ENST00000519204.1 + 28 7637 c.7519G>A c.(7519-7521)Gat>Aat p.D2507N TENM2_ENST00000545108.1_Missense_Mutation_p.D2627N|TENM2_ENST00000518659.1_Missense_Mutation_p.D2628N|TENM2_ENST00000403607.2_Missense_Mutation_p.D2452N|TENM2_ENST00000520394.1_Missense_Mutation_p.D2389N teneurin transmembrane protein 2 TGGCTCAGCCGATGGCGACCT 0.592000 4 16 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38888554 38888554 + Silent SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:38888554T>C ENST00000302328.3 - 26 5205 c.5007A>G c.(5005-5007)gtA>gtG p.V1669V SCN11A_ENST00000456224.3_Silent_p.V1631V|SCN11A_ENST00000450244.1_Silent_p.V1669V NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1669 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) GCAAGTCCATTACTAGAAATT 0.453000 36 60 0 0 1 0 0 ZNF671 79891 broad.mit.edu 37 19 58238780 58238780 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:58238780C>T ENST00000317398.6 - 1 212 c.117G>A c.(115-117)gcG>gcA p.A39A AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000596939.1_Silent_p.A39A|ZNF671_ENST00000335820.3_5'UTR|AC003006.7_ENST00000599221.1_Intron NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 39 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 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;0.0257) CCGTTAGCTCCGCCATAGGAC 0.687000 10 11 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 6 21 0 0 1 0 0 ZNF286A 57335 broad.mit.edu 37 17 15620575 15620575 + Nonsense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:15620575C>T ENST00000464847.2 + 5 2090 c.1537C>T c.(1537-1539)Caa>Taa p.Q513* ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Nonsense_Mutation_p.Q513*|ZNF286A_ENST00000413242.2_Nonsense_Mutation_p.Q513*|ZNF286A_ENST00000593105.1_Nonsense_Mutation_p.Q503*|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Nonsense_Mutation_p.Q513* Q9HBT8 Z286A_HUMAN zinc finger protein 286A 513 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) CATCAGACATCAAAGAGTTCA 0.373000 3 13 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49071899 49071899 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chrX:49071899G>A ENST00000376265.2 - 28 3435 c.3374C>T c.(3373-3375)gCg>gTg p.A1125V CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1060V|CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1114V NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1125 Dihydropyridine binding (By similarity). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) CATGAAGAACGCAATGATGAT 0.483000 10 8 0 0 1 0 0 AP3B1 8546 broad.mit.edu 37 5 77423952 77423952 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:77423952G>A ENST00000255194.6 - 17 2045 c.1870C>T c.(1870-1872)Cat>Tat p.H624Y AP3B1_ENST00000519295.1_Missense_Mutation_p.H575Y NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 624 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) TTGAGAGTATGAGATAAGGTG 0.363000 Hermansky-Pudlak syndrome 3 21 0 0 1 0 0 TIMM17B 10245 broad.mit.edu 37 X 48755064 48755064 + Translation_Start_Site SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chrX:48755064C>T ENST00000396779.3 - 0 117 TIMM17B_ENST00000376582.3_De_novo_Start_OutOfFrame|TIMM17B_ENST00000495490.2_De_novo_Start_InFrame NM_001167947.1 NP_001161419.1 O60830 TI17B_HUMAN translocase of inner mitochondrial membrane 17 homolog B (yeast) protein targeting to mitochondrion integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity kidney(1)|large_intestine(1)|lung(3)|ovary(1) 6 AGTCAGGCCACGCCCCCAGCG 0.652000 4 6 0 0 1 0 0 ZFP30 22835 broad.mit.edu 37 19 38135520 38135520 + Missense_Mutation SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:38135520C>A ENST00000351218.2 - 4 684 c.127G>T c.(127-129)Gtg>Ttg p.V43L ZFP30_ENST00000514101.2_Missense_Mutation_p.V43L|ZFP30_ENST00000392144.1_Missense_Mutation_p.V43L|ZFP30_ENST00000589018.1_Missense_Mutation_p.V43L NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein 43 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCCAGTGACACCAAGTTGCTA 0.403000 93 82 1.09269e-41 1.19156e-41 1 1 0 USP54 159195 broad.mit.edu 37 10 75289370 75289370 + Nonsense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:75289370G>A ENST00000319786.7 - 15 2971 c.2128C>T c.(2128-2130)Cag>Tag p.Q710* USP54_ENST00000394811.2_Intron|USP54_ENST00000339859.4_Intron|USP54_ENST00000497106.1_Intron|USP54_ENST00000408019.1_Intron|USP54_ENST00000428547.1_Intron Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 0 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) AGCCATGCCTGAAAGCCCCAA 0.488000 OREG0020266 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 21 0 0 1 0 0 SRD5A1 6715 broad.mit.edu 37 5 6633867 6633867 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:6633867G>A ENST00000274192.5 + 1 412 c.178G>A c.(178-180)Gag>Aag p.E60K SRD5A1_ENST00000537411.1_Silent_p.R68R|SRD5A1_ENST00000504286.1_3'UTR|SRD5A1_ENST00000538824.1_Silent_p.R68R NM_001047.2 NP_001038.1 P18405 S5A1_HUMAN steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) 60 Missing (in Ref. 4; AAF14869). androgen biosynthetic process|cell differentiation|sex determination|sex differentiation endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Dutasteride(DB01126)|Finasteride(DB01216) GGTGGTGCAGGAGCTGCCCTC 0.711000 3 21 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21191015 21191015 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:21191015C>T ENST00000602326.1 - 20 3393 c.2810G>A c.(2809-2811)cGc>cAc p.R937H EIF4G3_ENST00000400422.1_Missense_Mutation_p.R931H|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R651H|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R421H|EIF4G3_ENST00000264211.8_Missense_Mutation_p.R931H|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R535H|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R937H NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 931 MIF4G.|eIF3/EIF4A-binding (By similarity). interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GGTGAGCAGGCGACACAGGCA 0.443000 54 69 0 0 1 0 0 RAB3B 5865 broad.mit.edu 37 1 52442657 52442657 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:52442657C>T ENST00000371655.3 - 2 345 c.133G>A c.(133-135)Gac>Aac p.D45N NM_002867.3 NP_002858.2 P20337 RAB3B_HUMAN RAB3B, member RAS oncogene family 45 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity p.D45N(1) large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 GTGAACGTGTCATCAGCATAG 0.502000 45 48 0 0 1 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146650281 146650281 + RNA SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:146650281G>T ENST00000607149.1 + 0 350 RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA GAACGAGTATGATGATAACGG 0.433000 4 129 0.150653 0.150653 1 1 0 SURF6 6838 broad.mit.edu 37 9 136202906 136202906 + Missense_Mutation SNP A A C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:136202906A>C ENST00000372022.4 - 1 329 c.64T>G c.(64-66)Tcg>Gcg p.S22A NM_006753.4 NP_006744.2 O75683 SURF6_HUMAN surfeit 6 22 granular component DNA binding|RNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 12 OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05) TCCGGGGCCGAATGGGAGCAG 0.692000 42 76 0 0 1 0 0 HNRNPA3 220988 broad.mit.edu 37 2 178080766 178080766 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:178080766G>A ENST00000411529.2 + 4 388 c.337G>A c.(337-339)Gaa>Aaa p.E113K HNRNPA3_ENST00000435711.1_Missense_Mutation_p.E135K|HNRNPA3_ENST00000392524.2_Missense_Mutation_p.E135K NM_194247.2 NP_919223.1 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 135 RRM 1. catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1) 16 TGGTATTAAAGAAGATACAGA 0.328000 4 6 0 0 1 0 0 HNRNPA1 3178 broad.mit.edu 37 12 54675244 54675244 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:54675244G>A ENST00000546500.1 + 2 705 c.90G>A c.(88-90)ctG>ctA p.L30L HNRNPA1_ENST00000330752.8_Silent_p.L30L|HNRNPA1_ENST00000340913.6_Silent_p.L30L|HNRNPA1_ENST00000547276.1_Silent_p.L30L|RP11-968A15.8_ENST00000553061.1_RNA P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 30 Globular A domain.|RRM 1. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 ATGAGAGCCTGAGGAGCCATT 0.502000 13 49 0 0 1 0 0 GRAMD3 65983 broad.mit.edu 37 5 125805371 125805371 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:125805371C>T ENST00000285689.3 + 3 667 c.206C>T c.(205-207)tCa>tTa p.S69L GRAMD3_ENST00000544396.1_Intron|GRAMD3_ENST00000511134.1_Missense_Mutation_p.S53L|GRAMD3_ENST00000515200.1_Intron|GRAMD3_ENST00000542322.1_Missense_Mutation_p.S77L|GRAMD3_ENST00000513040.1_Missense_Mutation_p.S84L|GRAMD3_ENST00000514932.1_3'UTR|GRAMD3_ENST00000543198.1_Intron|GRAMD3_ENST00000502348.1_5'UTR|RP11-517I3.1_ENST00000515808.1_RNA NM_023927.2 NP_076416.2 Q96HH9 GRAM3_HUMAN GRAM domain containing 3 69 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108) TTCTTTAGGTCAAAATCCAGT 0.388000 16 107 0 0 1 0 0 LHX1 3975 broad.mit.edu 37 17 35298106 35298106 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:35298106C>T ENST00000254457.5 + 3 2008 c.597C>T c.(595-597)ttC>ttT p.F199F RP11-445F12.2_ENST00000607336.1_RNA NM_005568.3 NP_005559.2 P48742 LHX1_HUMAN LIM homeobox 1 199 cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(25;0.00607) AGGCCGCCTTCGCTGCTACAC 0.677000 8 2 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179638746 179638746 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:179638746A>G ENST00000589042.1 - 31 7373 c.7149T>C c.(7147-7149)agT>agC p.S2383S TTN_ENST00000460472.2_Silent_p.S2337S|TTN_ENST00000342992.6_Silent_p.S2383S|TTN_ENST00000359218.5_Silent_p.S2337S|TTN_ENST00000342175.6_Silent_p.S2337S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.S2383S|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000591111.1_Silent_p.S2383S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2106 Ig-like 13. 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) CGCCTTCCACACTTTCCAAGG 0.463000 27 91 0 0 1 0 0 AP1B1 162 broad.mit.edu 37 22 29737621 29737621 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr22:29737621G>A ENST00000357586.2 - 13 1851 c.1665C>T c.(1663-1665)atC>atT p.I555I AP1B1_ENST00000317368.7_Silent_p.I555I|AP1B1_ENST00000415447.1_Silent_p.I555I|AP1B1_ENST00000405198.1_Silent_p.I555I|AP1B1_ENST00000402502.1_Silent_p.I555I|AP1B1_ENST00000432560.2_Silent_p.I555I|AP1B1_ENST00000356015.2_Silent_p.I555I NM_001127.3 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 555 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GTGTGGGCTCGATGAGGTCCG 0.612000 55 26 0 0 1 0 0 TERF2IP 54386 broad.mit.edu 37 16 75681944 75681944 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:75681944G>A ENST00000300086.4 + 1 261 c.164G>A c.(163-165)cGa>cAa p.R55Q NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 55 negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 ACCGTGTGCCGAGTGCAGGAG 0.706000 5 7 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32599593 32599593 + Splice_Site SNP A A T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:32599593A>T ENST00000341377.5 + 7 1217 c.700A>T c.(700-702)Agt>Tgt p.S234C NRG1_ENST00000523079.1_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000338921.4_Splice_Site_p.K234*|NRG1_ENST00000405005.3_Splice_Site_p.K234*|NRG1_ENST00000521670.1_Splice_Site_p.K234*|NRG1_ENST00000520502.2_Intron NM_013964.3 NP_039258.1 Q02297 NRG1_HUMAN neuregulin 1 234 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) AAACCAAGAAAGTATGTCAAA 0.398000 9 39 0 0 1 0 0 KIF18B 146909 broad.mit.edu 37 17 43008976 43008976 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:43008976G>A ENST00000587309.1 - 11 1570 c.1547C>T c.(1546-1548)tCt>tTt p.S516F KIF18B_ENST00000593135.1_Missense_Mutation_p.S504F|KIF18B_ENST00000590129.1_Missense_Mutation_p.S525F|KIF18B_ENST00000339151.4_Missense_Mutation_p.S516F|KIF18B_ENST00000438933.2_Missense_Mutation_p.S516F NM_001264573.1 NP_001251503.1 kinesin family member 18B breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 21 Prostate(33;0.155) CTACTGCTTAGAACGGTCCCC 0.557000 45 55 0 0 1 0 0 PAX9 5083 broad.mit.edu 37 14 37132434 37132434 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:37132434G>A ENST00000361487.6 + 2 562 c.337G>A c.(337-339)Gac>Aac p.D113N PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Missense_Mutation_p.D113N P55771 PAX9_HUMAN paired box 9 113 Paired. multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) CGGCGTGTGCGACAAGTACAA 0.602000 14 81 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71007829 71007829 + Missense_Mutation SNP A A T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:71007829A>T ENST00000393567.2 - 34 5282 c.5132T>A c.(5131-5133)aTt>aAt p.I1711N NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1711 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TCCACACTGAATTGTGGCAAA 0.493000 11 100 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56720491 56720491 + Missense_Mutation SNP T T A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:56720491T>A ENST00000425394.2 - 7 1548 c.1172A>T c.(1171-1173)gAc>gTc p.D391V PAN2_ENST00000257931.5_Missense_Mutation_p.D391V|PAN2_ENST00000440411.3_Missense_Mutation_p.D391V|PAN2_ENST00000548043.1_Missense_Mutation_p.D391V NM_001127460.2 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 391 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 AGGCAGCAGGTCCTGGCTCCA 0.582000 17 21 0 0 1 0 0 OTOP2 92736 broad.mit.edu 37 17 72927051 72927051 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:72927051G>A ENST00000331427.4 + 6 1413 c.1321G>A c.(1321-1323)Gag>Aag p.E441K OTOP2_ENST00000580223.1_Missense_Mutation_p.E441K NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 441 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) CCACCCCAAGGAGCCCTGCCA 0.622000 30 10 0 0 1 0 0 SRF 6722 broad.mit.edu 37 6 43141795 43141795 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:43141795G>A ENST00000265354.4 + 2 1082 c.724G>A c.(724-726)Gaa>Aaa p.E242K SRF_ENST00000457278.2_Missense_Mutation_p.E38K NM_003131.2 NP_003122.1 P11831 SRF_HUMAN serum response factor (c-fos serum response element-binding transcription factor) 242 Asp/Glu-rich (acidic). angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation endoplasmic reticulum protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 12 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CACTGGCTTTGAAGAGACAGA 0.567000 8 24 0 0 1 0 0 TMED7 51014 broad.mit.edu 37 5 114961372 114961372 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:114961372C>T ENST00000456936.3 - 1 498 c.118G>A c.(118-120)Gag>Aag p.E40K TICAM2_ENST00000408996.4_Missense_Mutation_p.E40K|TMED7_ENST00000503010.1_Intron|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.E40K|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.E40K NM_181836.5 NP_861974.1 transmembrane emp24 protein transport domain containing 7 breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1) 6 all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05) TCAGGAAGCTCGAAGGTGATC 0.672000 9 24 0 0 1 0 0 MZB1 51237 broad.mit.edu 37 5 138723604 138723604 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:138723604G>A ENST00000302125.8 - 4 477 c.420C>T c.(418-420)tcC>tcT p.S140S MZB1_ENST00000412103.2_Silent_p.S48S NM_016459.3 NP_057543.2 Q8WU39 PERP1_HUMAN marginal zone B and B1 cell-specific protein 140 apoptosis|positive regulation of immunoglobulin biosynthetic process cytoplasm|endoplasmic reticulum chaperone complex protein binding AACATGTCCTGGAGAGCCTAG 0.607000 9 21 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61417591 61417591 + Nonsense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:61417591G>T ENST00000424789.2 + 10 1487 c.1483G>T c.(1483-1485)Gaa>Taa p.E495* TANC2_ENST00000389520.4_Nonsense_Mutation_p.E495* NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 495 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 GCTTCTTCGGGAACCTCACCT 0.542000 27 59 2.65835e-16 2.85435e-16 1 1 0 TBX3 6926 broad.mit.edu 37 12 115120991 115120991 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:115120991C>T ENST00000349155.2 - 1 978 c.15G>A c.(13-15)atG>atA p.M5I TBX3_ENST00000257566.3_Missense_Mutation_p.M5I NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 5 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) CCGGATCTCTCATGGAGAGGC 0.602000 OREG0022153 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 47 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67799917 67799917 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr13:67799917T>C ENST00000544246.1 - 2 3347 c.2656A>G c.(2656-2658)Act>Gct p.T886A PCDH9_ENST00000377865.2_Missense_Mutation_p.T886A|PCDH9_ENST00000377861.3_Missense_Mutation_p.T886A|PCDH9_ENST00000328454.5_Missense_Mutation_p.T886A|PCDH9_ENST00000456367.1_Missense_Mutation_p.T886A NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 886 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) TCTTCGATAGTAACAAAGTTC 0.428000 19 47 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12447507 12447507 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:12447507C>T ENST00000397026.2 + 7 1063 c.680C>T c.(679-681)tCa>tTa p.S227L PPARG_ENST00000309576.6_Missense_Mutation_p.S221L|PPARG_ENST00000397000.1_Missense_Mutation_p.S221L|PPARG_ENST00000287820.6_Missense_Mutation_p.S249L|PPARG_ENST00000397010.2_Missense_Mutation_p.S221L|PPARG_ENST00000397015.2_Missense_Mutation_p.S221L|PPARG_ENST00000539812.1_Missense_Mutation_p.S219L|PPARG_ENST00000397012.2_Missense_Mutation_p.S221L P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 249 Interaction with FAM120B (By similarity). activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) TTGTATGACTCATACATAAAG 0.502000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 14 23 0 0 1 0 0 AMBN 258 broad.mit.edu 37 4 71458090 71458090 + Splice_Site SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:71458090G>C ENST00000322937.6 + 1 118 c.15G>C c.(13-15)aaG>aaC p.K5N AMBN_ENST00000449493.2_Splice_Site_p.K5N NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 5 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) CAGCATCTAAGGTAAAATGGG 0.368000 10 29 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121413576 121413576 + Missense_Mutation SNP T T A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:121413576T>A ENST00000393667.3 - 13 5904 c.5794A>T c.(5794-5796)Atg>Ttg p.M1932L GOLGB1_ENST00000340645.5_Missense_Mutation_p.M1927L NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1927 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) AATTGATTCATAAGCCTCTCT 0.363000 49 71 0 0 1 0 0 KAT7 11143 broad.mit.edu 37 17 47899078 47899078 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:47899078G>A ENST00000503935.2 + 11 1880 c.844G>A c.(844-846)Gtg>Atg p.V282M KAT7_ENST00000259021.4_Missense_Mutation_p.V438M|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000510819.1_Missense_Mutation_p.V269M|KAT7_ENST00000435742.2_Missense_Mutation_p.V252M|KAT7_ENST00000424009.2_Missense_Mutation_p.V408M|KAT7_ENST00000454930.2_Missense_Mutation_p.V299M|KAT7_ENST00000509773.1_Missense_Mutation_p.V328M O95251 MYST2_HUMAN K(lysine) acetyltransferase 7 438 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.V438L(1) ATATTATGATGTGGAGCCCTT 0.448000 37 59 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44905697 44905697 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:44905697C>T ENST00000261866.7 - 17 3092 c.3076G>A c.(3076-3078)Gag>Aag p.E1026K SPG11_ENST00000558319.1_Missense_Mutation_p.E1026K|SPG11_ENST00000427534.2_Missense_Mutation_p.E1026K|SPG11_ENST00000535302.2_Missense_Mutation_p.E1026K NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1026 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TCATGTAACTCTTTTTTTTCC 0.328000 25 32 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10602915 10602915 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:10602915G>A ENST00000171111.5 - 3 1210 c.663C>T c.(661-663)ttC>ttT p.F221F KEAP1_ENST00000393623.2_Silent_p.F221F|KEAP1_ENST00000588024.1_5'UTR NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 221 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GGGACAGGTTGAAGAACTCCT 0.612000 19 20 0 0 1 0 0 LPO 4025 broad.mit.edu 37 17 56343605 56343605 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:56343605G>C ENST00000262290.4 + 11 1927 c.1611G>C c.(1609-1611)aaG>aaC p.K537N LPO_ENST00000543544.1_Missense_Mutation_p.K478N|LPO_ENST00000421678.2_Missense_Mutation_p.K454N|LPO_ENST00000582328.1_Missense_Mutation_p.K454N NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 537 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 TGCGCAACAAGCTTTTCCAGC 0.537000 32 41 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121868273 121868273 + Splice_Site SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:121868273C>T ENST00000377069.4 - 22 4029 c.e22-1 RNF34_ENST00000392464.2_Silent_p.V500V|KDM2B_ENST00000542973.1_Splice_Site|KDM2B_ENST00000536437.1_Splice_Site|KDM2B_ENST00000377071.4_Splice_Site NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 TTATTGCAGTCTGCAGAGAAG 0.537000 13 73 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49418419 49418419 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:49418419T>C ENST00000301067.7 - 50 15993 c.15994A>G c.(15994-15996)Atg>Gtg p.M5332V NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGGTTGATCATGAGTGGCAGC 0.552000 16 16 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128193480 128193480 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:128193480G>A ENST00000284694.7 - 3 409 c.289C>T c.(289-291)Cac>Tac p.H97Y C10orf90_ENST00000454341.1_Missense_Mutation_p.H97Y|C10orf90_ENST00000544758.1_Missense_Mutation_p.H194Y|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.H50Y|C10orf90_ENST00000392694.1_Missense_Mutation_p.H50Y NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 97 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) AATGCTCTGTGAATGTTGACT 0.572000 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 34 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118624191 118624191 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:118624191C>T ENST00000336338.5 - 14 1902 c.1837G>A c.(1837-1839)Gat>Aat p.D613N NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 613 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CCTTTTTCATCAACCTCAGAG 0.448000 8 82 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73076952 73076952 + Missense_Mutation SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:73076952C>A ENST00000263674.3 + 20 6305 c.5955C>A c.(5953-5955)ttC>ttA p.F1985L NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1985 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CAGATGGCTTCAACCTGCTCT 0.622000 10 24 0.00010058 0.000103238 1 1 0 THSD7A 221981 broad.mit.edu 37 7 11676326 11676326 + Missense_Mutation SNP T T A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:11676326T>A ENST00000423059.4 - 2 704 c.453A>T c.(451-453)gaA>gaT p.E151D THSD7A_ENST00000480061.1_5'UTR NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CCTGAATACCTTCTTCCCCCT 0.488000 HNSCC(18;0.044) 5 49 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18343983 18343983 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:18343983C>T ENST00000355502.3 - 5 890 c.19G>A c.(19-21)Ggc>Agc p.G7S PDE4C_ENST00000594465.3_Missense_Mutation_p.G7S|PDE4C_ENST00000594617.3_Missense_Mutation_p.G7S Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 7 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) GCCCCTTCGCCGACCCCCAGG 0.697000 6 2 0 0 1 0 0 FNBP1L 54874 broad.mit.edu 37 1 93998534 93998534 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:93998534G>A ENST00000260506.8 + 8 846 c.695G>A c.(694-696)gGa>gAa p.G232E FNBP1L_ENST00000370256.4_Missense_Mutation_p.G232E|FNBP1L_ENST00000271234.7_Missense_Mutation_p.G232E|FNBP1L_ENST00000370253.2_Missense_Mutation_p.G232E|FNBP1L_ENST00000604705.1_Missense_Mutation_p.G232E NM_001024948.2|NM_017737.4 NP_001020119.1|NP_060207.2 Q5T0N5 FBP1L_HUMAN formin binding protein 1-like 232 Induction of membrane tubulation (By similarity). endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1) 11 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) TGTTACAGAGGATTTGCTGAC 0.333000 3 25 0 0 1 0 0 CARNS1 57571 broad.mit.edu 37 11 67191688 67191688 + Silent SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:67191688T>C ENST00000445895.2 + 9 2583 c.2469T>C c.(2467-2469)cgT>cgC p.R823R CARNS1_ENST00000307823.3_Silent_p.R700R|CARNS1_ENST00000423745.2_Silent_p.R700R|CARNS1_ENST00000531040.1_Silent_p.R797R A5YM72 CRNS1_HUMAN carnosine synthase 1 700 carnosine biosynthetic process ATP binding|carnosine synthase activity|metal ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7) 11 TCTACCTGCGTGATTGGATCC 0.627000 25 78 0 0 1 0 0 PLD1 5337 broad.mit.edu 37 3 171323192 171323192 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:171323192T>C ENST00000356327.5 - 25 2853 c.2783A>G c.(2782-2784)tAt>tGt p.Y928C PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.Y966C NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 966 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GTCATCAAGATAGCCAAGGAC 0.398000 45 70 0 0 1 0 0 C5orf58 133874 broad.mit.edu 37 5 169661980 169661980 + Splice_Site SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:169661980G>C ENST00000521850.1 + 2 1752 c.e2-1 C5orf58_ENST00000517575.1_Splice_Site|C5orf58_ENST00000593851.1_Splice_Site C9J3I9 CE058_HUMAN chromosome 5 open reading frame 58 large_intestine(1)|lung(4)|urinary_tract(1) 6 TTTAAAATCAGATGGGTAAGA 0.259000 3 5 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20874764 20874764 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:20874764C>T ENST00000381552.1 + 8 1170 c.802C>T c.(802-804)Ccc>Tcc p.P268S SLCO1C1_ENST00000540354.1_Missense_Mutation_p.P219S|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.P268S|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.P150S|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.P268S Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 268 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CCCAAAAGATCCCCAGTGGGT 0.388000 24 69 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61965628 61965628 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:61965628A>G ENST00000280772.2 - 11 1406 c.1215T>C c.(1213-1215)caT>caC p.H405H ANK3_ENST00000373827.2_Silent_p.H399H|ANK3_ENST00000503366.1_Silent_p.H388H NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGCAGGCAATATGAAGAGGGG 0.408000 22 32 0 0 1 0 0 PFKFB4 5210 broad.mit.edu 37 3 48576047 48576047 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:48576047C>T ENST00000232375.3 - 7 628 c.516G>A c.(514-516)gtG>gtA p.V172V PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000416568.1_Silent_p.V172V|PFKFB4_ENST00000536104.1_Silent_p.V161V|PFKFB4_ENST00000383734.2_Silent_p.V172V|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Silent_p.V138V NM_004567.2 NP_004558.1 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 172 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) TGCCCAGTTTCACTTGCTGCC 0.597000 13 25 0 0 1 0 0 GPC2 221914 broad.mit.edu 37 7 99768017 99768017 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:99768017G>A ENST00000292377.2 - 10 1743 c.1576C>T c.(1576-1578)Cct>Tct p.P526S GPC2_ENST00000471050.1_5'UTR NM_152742.1 NP_689955.1 Q8N158 GPC2_HUMAN glypican 2 526 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3) 18 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGTATGGAGGCCGAGGAGGC 0.647000 7 20 0 0 1 0 0 FAM83H 286077 broad.mit.edu 37 8 144810877 144810877 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:144810877C>T ENST00000388913.3 - 5 879 c.754G>A c.(754-756)Gag>Aag p.E252K NM_198488.3 NP_940890 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 252 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TGGATCTTCTCAAAGGACCAC 0.657000 27 41 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65186350 65186350 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:65186350C>T ENST00000358691.5 - 10 845 c.679G>A c.(679-681)Gag>Aag p.E227K HELZ_ENST00000580168.1_Missense_Mutation_p.E227K|HELZ_ENST00000580662.1_5'UTR NM_014877.3 NP_055692 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TGTTTATTCTCATTTTGCTGT 0.398000 39 49 0 0 1 0 0 RIMKLB 57494 broad.mit.edu 37 12 8866636 8866636 + Splice_Site SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:8866636G>A ENST00000357529.3 + 3 1436 c.174G>A c.(172-174)ctG>ctA p.L58L RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000535829.1_Splice_Site_p.L58L|RIMKLB_ENST00000538135.1_Splice_Site_p.L58L NM_020734.2 NP_065785.2 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family member B 58 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 AAGGAAACCTGGGTAAGTCTG 0.408000 3 26 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107800883 107800883 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:107800883A>G ENST00000379028.3 - 31 3991 c.3521T>C c.(3520-3522)aTg>aCg p.M1174T NRCAM_ENST00000379024.4_Missense_Mutation_p.M1062T|NRCAM_ENST00000351718.4_Missense_Mutation_p.M1053T|NRCAM_ENST00000379022.4_Missense_Mutation_p.M1174T|NRCAM_ENST00000425651.2_Missense_Mutation_p.M1174T|NRCAM_ENST00000413765.2_Missense_Mutation_p.M1050T Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 1174 angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 AACAGCACACATCAGACCAAT 0.423000 27 37 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216248801 216248801 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:216248801G>A ENST00000354785.4 - 30 5205 c.4836C>T c.(4834-4836)gtC>gtT p.V1612V FN1_ENST00000356005.4_Silent_p.V1521V|FN1_ENST00000432072.2_Silent_p.V1612V|FN1_ENST00000323926.6_Silent_p.V1612V|FN1_ENST00000421182.1_Silent_p.V1521V|FN1_ENST00000336916.4_Silent_p.V1521V|FN1_ENST00000359671.1_Silent_p.V1521V|FN1_ENST00000346544.3_Silent_p.V1521V|FN1_ENST00000357009.2_Silent_p.V1521V|FN1_ENST00000345488.5_Silent_p.V1521V|FN1_ENST00000446046.1_Silent_p.V1521V|FN1_ENST00000443816.1_Silent_p.V1521V|FN1_ENST00000357867.4_Silent_p.V1521V P02751 FINC_HUMAN fibronectin 1 1615 Fibronectin type-III 11. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACGGCCAGTGACAGCATACA 0.493000 20 37 0 0 1 0 0 ZNF583 147949 broad.mit.edu 37 19 56934756 56934756 + Silent SNP T T G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:56934756T>G ENST00000333201.9 + 5 939 c.729T>G c.(727-729)gtT>gtG p.V243V ZNF583_ENST00000291598.7_Silent_p.V243V|ZNF583_ENST00000585612.1_3'UTR NM_001159861.1|NM_152478.2 NP_001153333.1|NP_689691.2 Q96ND8 ZN583_HUMAN zinc finger protein 583 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) ATGCATGTGTTGAATGTGGGA 0.398000 4 60 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17697096 17697096 + Missense_Mutation SNP G G C rs113303801 TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:17697096G>C ENST00000353383.1 + 3 1303 c.834G>C c.(832-834)caG>caC p.Q278H RAI1_ENST00000261641.6_Missense_Mutation_p.Q278H NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 278 Gln-rich.|Poly-Gln. cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) GCTATGACcagcagcagcagc 0.637000 4 37 0 0 1 0 0 YIPF4 84272 broad.mit.edu 37 2 32523364 32523364 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:32523364G>C ENST00000238831.4 + 4 713 c.467G>C c.(466-468)aGa>aCa p.R156T NM_032312.3 NP_115688.1 Q9BSR8 YIPF4_HUMAN Yip1 domain family, member 4 endoplasmic reticulum|integral to membrane protein binding kidney(2)|lung(3)|prostate(3)|skin(1) 9 Acute lymphoblastic leukemia(172;0.155) TTACTGGCCAGAGTTCTTGGT 0.318000 18 25 0 0 1 0 0 FLOT2 2319 broad.mit.edu 37 17 27207752 27207752 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:27207752G>A ENST00000394906.2 - 12 1469 c.1392C>T c.(1390-1392)ctC>ctT p.L464L FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Silent_p.L409L|FLOT2_ENST00000394908.4_Silent_p.L409L Q14254 FLOT2_HUMAN flotillin 2 409 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction endometrium(3)|lung(6)|prostate(1)|urinary_tract(1) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) CCACGCCTGTGAGGGCATGCA 0.607000 24 22 0 0 1 0 0 GSDMB 55876 broad.mit.edu 37 17 38066068 38066068 + Missense_Mutation SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:38066068C>A ENST00000394175.2 - 3 740 c.517G>T c.(517-519)Gac>Tac p.D173Y GSDMB_ENST00000360317.3_Missense_Mutation_p.D173Y|GSDMB_ENST00000394179.1_Missense_Mutation_p.D173Y|GSDMB_ENST00000309481.7_Missense_Mutation_p.D173Y|GSDMB_ENST00000520542.1_Missense_Mutation_p.D173Y|GSDMB_ENST00000418519.1_Missense_Mutation_p.D173Y NM_018530.2 NP_061000.2 Q8TAX9 GSDMB_HUMAN gasdermin B 173 cytoplasm breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2) 21 TATTGCCGGTCGCTTTTCAGG 0.478000 6 143 0.00116845 0.00118713 1 1 0 BPIFB4 149954 broad.mit.edu 37 20 31685555 31685555 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr20:31685555C>T ENST00000375483.3 + 11 1531 c.1531C>T c.(1531-1533)Ccc>Tcc p.P511S NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 511 cytoplasm|extracellular region lipid binding GGTCTCCCAGCCCAAAGACCT 0.572000 7 32 0 0 1 0 0 BRE 9577 broad.mit.edu 37 2 28467646 28467646 + Splice_Site SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:28467646G>A ENST00000344773.2 + 10 989 c.e10-1 BRE_ENST00000379632.2_Splice_Site|BRE_ENST00000361704.2_Splice_Site|BRE_ENST00000379624.1_Splice_Site|BRE_ENST00000342045.2_Splice_Site NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) TTATTACTTAGAGGTGTCGTG 0.333000 17 47 0 0 1 0 0 NOS1AP 9722 broad.mit.edu 37 1 162335224 162335224 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:162335224G>A ENST00000493151.1 + 1 2452 c.85G>A c.(85-87)Gag>Aag p.E29K RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.E10K|NOS1AP_ENST00000361897.5_Missense_Mutation_p.E324K|NOS1AP_ENST00000530878.1_Missense_Mutation_p.E319K NM_001126060.1 NP_001119532.2 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 324 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) GTTGGCTGCTGAGGCTGCGGC 0.582000 9 77 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71050152 71050152 + Missense_Mutation SNP T T A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:71050152T>A ENST00000318789.4 - 13 1558 c.1033A>T c.(1033-1035)Atg>Ttg p.M345L FOXP1_ENST00000498215.1_Missense_Mutation_p.M345L|FOXP1_ENST00000491238.1_Missense_Mutation_p.M347L|FOXP1_ENST00000484350.1_Missense_Mutation_p.M269L|FOXP1_ENST00000475937.1_Missense_Mutation_p.M345L|FOXP1_ENST00000468577.1_Missense_Mutation_p.M345L|FOXP1_ENST00000493089.1_Missense_Mutation_p.M345L NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 345 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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 activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) ACAACCTGCATTTGTACTCTA 0.373000 T PAX5 ALL 9 48 0 0 1 0 0 ZNF486 90649 broad.mit.edu 37 19 20308306 20308306 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:20308306G>A ENST00000335117.8 + 4 844 c.787G>A c.(787-789)Gag>Aag p.E263K CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA NM_052852.3 NP_443084.2 Q96H40 ZN486_HUMAN zinc finger protein 486 263 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 TCATAGTGGAGAGAAACCCTA 0.373000 16 47 0 0 1 0 0 FADD 8772 broad.mit.edu 37 11 70052282 70052282 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:70052282A>G ENST00000301838.4 + 2 627 c.330A>G c.(328-330)aaA>aaG p.K110K NM_003824.3 NP_003815.1 Q13158 FADD_HUMAN Fas (TNFRSF6)-associated via death domain 110 Death. activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction cytosol death receptor binding|identical protein binding endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2) 9 Esophageal squamous(2;1.19e-45) LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) ATGTGGGGAAAGATTGGAGAA 0.512000 4 22 0 0 1 0 0 OR10A6 390093 broad.mit.edu 37 11 7950075 7950075 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:7950075A>G ENST00000309838.2 - 1 134 c.135T>C c.(133-135)atT>atC p.I45I NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CGATGACTATAATAATGGCAT 0.468000 28 37 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140278603 140278603 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:140278603A>G ENST00000296543.5 + 11 1474 c.1151A>G c.(1150-1152)tAt>tGt p.Y384C NAA15_ENST00000398947.1_Missense_Mutation_p.Y384C NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 384 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 GCACAACATTATGACAAAATT 0.393000 9 30 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158746948 158746948 + Missense_Mutation SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:158746948C>A ENST00000339258.1 - 1 477 c.478G>T c.(478-480)Gtc>Ttc p.V160F NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) GCAAGGATGACCTCAGAAATG 0.498000 10 84 2.17888e-05 2.25635e-05 1 1 0 HSPA1A 3303 broad.mit.edu 37 6 31785456 31785456 + Silent SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:31785456T>C ENST00000375651.5 + 1 2166 c.1923T>C c.(1921-1923)gaT>gaC p.D641D HSPA1A_ENST00000608703.1_Silent_p.D476D|HSPA1A_ENST00000458062.2_Silent_p.D550D NM_005345.5 NP_005336.3 P08107 HSP71_HUMAN heat shock 70kDa protein 1A 641 anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding endometrium(1)|ovary(1)|stomach(1) 3 AGGAGGTAGATTAGGGGCCTT 0.537000 10 37 0 0 1 0 0 USP25 29761 broad.mit.edu 37 21 17150311 17150311 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr21:17150311G>A ENST00000285681.2 + 4 726 c.357G>A c.(355-357)gaG>gaA p.E119E USP25_ENST00000547201.1_3'UTR|USP25_ENST00000285679.6_Silent_p.E119E|USP25_ENST00000351097.5_Silent_p.E119E|USP25_ENST00000400183.2_Silent_p.E119E NM_001283042.1 NP_001269971.1 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 119 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2) 52 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) CATTCAGGGAGACTGGAATAA 0.353000 6 35 0 0 1 0 0 CEP55 55165 broad.mit.edu 37 10 95276705 95276705 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:95276705A>G ENST00000371485.3 + 6 997 c.693A>G c.(691-693)gaA>gaG p.E231E NM_001127182.1|NM_018131.4 NP_001120654|NP_060601 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 231 Interaction with TSG101. cell division|mitosis centriole|cleavage furrow|midbody kidney(1)|large_intestine(5)|lung(6)|stomach(1) 13 Colorectal(252;0.207) ATCTTCAAGAAGAGAAGCAGA 0.333000 26 12 0 0 1 0 0 EIF2B4 8890 broad.mit.edu 37 2 27587642 27587642 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:27587642C>T ENST00000493344.2 - 11 1690 c.1378G>A c.(1378-1380)Gaa>Aaa p.E460K EIF2B4_ENST00000451130.2_Missense_Mutation_p.E459K|AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000347454.4_Missense_Mutation_p.E439K|EIF2B4_ENST00000445933.2_Missense_Mutation_p.E438K Q9UI10 EI2BD_HUMAN eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 439 myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex translation initiation factor activity|translation initiation factor binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGTATGTTTCACAGCAAACC 0.512000 29 66 0 0 1 0 0 SCAF11 9169 broad.mit.edu 37 12 46322330 46322330 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:46322330A>G ENST00000465950.1 - 1 1418 c.209T>C c.(208-210)tTa>tCa p.L70S SCAF11_ENST00000369367.3_Missense_Mutation_p.L385S|SCAF11_ENST00000549162.1_Missense_Mutation_p.L193S|SCAF11_ENST00000419565.2_Missense_Mutation_p.L385S Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 385 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 CTTTTTCAGTAAAGGTGGTTT 0.418000 22 40 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99452629 99452629 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr13:99452629C>T ENST00000376460.1 - 53 5951 c.5871G>A c.(5869-5871)aaG>aaA p.K1957K DOCK9_ENST00000339416.2_Silent_p.K1944K NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1958 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GCTCCGCCACCTTCTTACTCA 0.572000 6 8 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677948 37677948 + Missense_Mutation SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:37677948C>A ENST00000532828.2 - 5 742 c.491G>T c.(490-492)gGg>gTg p.G164V ZNF585B_ENST00000531805.1_Missense_Mutation_p.G109V|ZNF585B_ENST00000527838.1_Intron|ZNF585B_ENST00000312908.5_Intron|CTC-454I21.3_ENST00000585860.2_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 164 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAAAGCCCTCCCACATTCAAT 0.398000 6 194 0.00116845 0.00118713 1 1 0 KCTD11 147040 broad.mit.edu 37 17 7256866 7256866 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:7256866G>A ENST00000333751.3 + 1 1659 c.605G>A c.(604-606)cGg>cAg p.R202Q RP11-542C16.1_ENST00000572417.1_RNA NM_001002914.2 NP_001002914.1 Q693B1 KCD11_HUMAN potassium channel tetramerization domain containing 11 202 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|large_intestine(2)|lung(1) 4 Prostate(122;0.157) GAGGTGCTGCGGGTGGCTCTC 0.662000 5 27 0 0 1 0 0 TFEC 22797 broad.mit.edu 37 7 115624334 115624334 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:115624334A>G ENST00000265440.7 - 2 342 c.162T>C c.(160-162)gaT>gaC p.D54D TFEC_ENST00000484212.1_Silent_p.D144D|TFEC_ENST00000320239.7_Silent_p.D54D|TFEC_ENST00000393485.1_Silent_p.D54D NM_012252.3 NP_036384.1 O14948 TFEC_HUMAN transcription factor EC 54 Necessary for transcriptional transactivation. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) GTGCATTGTCATCTTCTTTCC 0.398000 49 143 0 0 1 0 0 KPNA6 23633 broad.mit.edu 37 1 32622963 32622963 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:32622963G>T ENST00000373625.3 + 4 341 c.248G>T c.(247-249)aGa>aTa p.R83I KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.R88I|KPNA6_ENST00000537234.1_Missense_Mutation_p.R80I NM_012316.4 NP_036448.1 O60684 IMA7_HUMAN karyopherin alpha 6 (importin alpha 7) 83 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding large_intestine(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GTGATCACAAGAGAGATGGTG 0.438000 8 29 7.48243e-07 7.8063e-07 1 1 0 OBSCN 84033 broad.mit.edu 37 1 228431121 228431121 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:228431121C>T ENST00000570156.2 + 11 3517 c.3443C>T c.(3442-3444)gCc>gTc p.A1148V OBSCN_ENST00000284548.11_Missense_Mutation_p.A1056V|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1056V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 84 Ig-like 11. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGCTGCGAGGCCAGGGGCCAG 0.552000 7 33 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25919603 25919603 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:25919603G>A ENST00000398988.3 + 10 1284 c.839G>A c.(838-840)aGa>aAa p.R280K KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000268763.6_Missense_Mutation_p.R280K|KSR1_ENST00000319524.6_Missense_Mutation_p.R417K|KSR1_ENST00000509603.2_Missense_Mutation_p.R417K NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 415 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CCGGTGGACAGAGCAGCCGAA 0.552000 15 13 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23099153 23099153 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:23099153A>G ENST00000219689.7 - 8 1418 c.1419T>C c.(1417-1419)ttT>ttC p.F473F NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 473 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) AAGGCAGTCCAAATCTAACAC 0.378000 18 15 0 0 1 0 0 GRIK5 2901 broad.mit.edu 37 19 42566696 42566696 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:42566696C>T ENST00000262895.3 - 4 451 c.452G>A c.(451-453)cGa>cAa p.R151Q GRIK5_ENST00000593562.1_Missense_Mutation_p.R151Q|GRIK5_ENST00000301218.4_Missense_Mutation_p.R151Q NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 151 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) CTTGAGGATTCGGGAGACCGC 0.577000 44 43 0 0 1 0 0 ATL2 64225 broad.mit.edu 37 2 38604302 38604302 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:38604302G>A ENST00000378954.4 - 1 102 c.101C>T c.(100-102)tCg>tTg p.S34L ATL2_ENST00000419554.2_Missense_Mutation_p.S34L|ATL2_ENST00000539122.1_5'UTR|ATL2_ENST00000406122.1_5'UTR NM_001135673.1|NM_022374.2 NP_001129145.1|NP_071769.2 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 34 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 GGTCGTGGACGAGACGTGGTT 0.746000 4 21 0 0 1 0 0 OR6A2 8590 broad.mit.edu 37 11 6816074 6816074 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:6816074A>G ENST00000332601.3 - 1 1054 c.866T>C c.(865-867)tTg>tCg p.L289S NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GGGATTGAGCAATGGTACAAT 0.483000 36 31 0 0 1 0 0 ACVR2A 92 broad.mit.edu 37 2 148672795 148672795 + Silent SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:148672795T>C ENST00000241416.7 + 5 1200 c.564T>C c.(562-564)ggT>ggC p.G188G ACVR2A_ENST00000404590.1_Silent_p.G188G|ACVR2A_ENST00000535787.1_Silent_p.G80G NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 188 activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) CATTACTAGGTTTGAAACCAC 0.393000 74 31 0 0 1 0 0 POLR2H 5437 broad.mit.edu 37 3 184086072 184086072 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:184086072T>C ENST00000456318.1 + 6 1492 c.443T>C c.(442-444)cTa>cCa p.L148P POLR2H_ENST00000430783.1_Missense_Mutation_p.L120P|POLR2H_ENST00000438240.1_Missense_Mutation_p.L112P|POLR2H_ENST00000443489.1_Missense_Mutation_p.L84P|POLR2H_ENST00000429568.1_Silent_p.A169A|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000452961.1_Missense_Mutation_p.L112P|POLR2H_ENST00000296223.3_Missense_Mutation_p.L148P NM_001278699.1 NP_001265628.1 P52434 RPAB3_HUMAN polymerase (RNA) II (DNA directed) polypeptide H 148 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA-directed RNA polymerase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATGAAGAAGCTAGCCTTCTGA 0.557000 21 69 0 0 1 0 0 RELL2 285613 broad.mit.edu 37 5 141019656 141019656 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:141019656G>A ENST00000297164.3 + 5 1873 c.673G>A c.(673-675)Gag>Aag p.E225K RELL2_ENST00000444782.1_Missense_Mutation_p.E225K|RELL2_ENST00000518856.1_Missense_Mutation_p.E159K|RELL2_ENST00000518025.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000521367.1_Missense_Mutation_p.E159K NM_173828.4 NP_776189.3 Q8NC24 RELL2_HUMAN RELT-like 2 225 integral to membrane|plasma membrane large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGCCCCCTGAGAGGCCACA 0.677000 3 24 0 0 1 0 0 VWA5A 4013 broad.mit.edu 37 11 124007358 124007358 + Silent SNP T T A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:124007358T>A ENST00000456829.2 + 14 1853 c.1602T>A c.(1600-1602)ccT>ccA p.P534P VWA5A_ENST00000392748.1_Silent_p.P534P|VWA5A_ENST00000360334.4_Intron NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 534 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 TGACATTTCCTCTACAACCCA 0.443000 10 60 0 0 1 0 0 FBXO41 150726 broad.mit.edu 37 2 73495884 73495884 + Missense_Mutation SNP T T A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:73495884T>A ENST00000521871.1 - 2 1290 c.875A>T c.(874-876)cAc>cTc p.H292L FBXO41_ENST00000520530.2_Missense_Mutation_p.H292L|FBXO41_ENST00000295133.5_Missense_Mutation_p.H353L Q8TF61 FBX41_HUMAN F-box protein 41 292 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 CTGTTCCTTGTGCACCAGGTC 0.657000 5 8 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104728345 104728345 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chrX:104728345G>T ENST00000372582.1 + 6 1494 c.738G>T c.(736-738)atG>atT p.M246I IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.M246I NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 246 Ig-like C2-type 3. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TGTTCCCCATGGAGAATCAGC 0.413000 39 18 4.67007e-22 5.0454e-22 1 1 0 DPH7 92715 broad.mit.edu 37 9 140469295 140469295 + Splice_Site SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:140469295T>C ENST00000277540.2 - 4 533 c.376A>G c.(376-378)Aag>Gag p.K126E DPH7_ENST00000479650.1_5'UTR NM_138778.2 NP_620133.1 diphthamide biosynthesis 7 ACGTGGCTCTTCTACTGGAGA 0.537000 33 37 0 0 1 0 0 SPAG1 6674 broad.mit.edu 37 8 101174641 101174641 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:101174641G>A ENST00000388798.2 + 2 324 c.133G>A c.(133-135)Gtg>Atg p.V45M SPAG1_ENST00000520643.1_Missense_Mutation_p.V45M|SPAG1_ENST00000520508.1_Missense_Mutation_p.V45M|SPAG1_ENST00000251809.3_Missense_Mutation_p.V45M NM_003114.4 NP_003105.2 Q07617 SPAG1_HUMAN sperm associated antigen 1 45 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) AATTCTTTGCGTGCTCAGGTA 0.279000 27 40 0 0 1 0 0 SIM2 6493 broad.mit.edu 37 21 38081520 38081520 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr21:38081520C>T ENST00000290399.6 + 2 841 c.228C>T c.(226-228)gtC>gtT p.V76V SIM2_ENST00000430056.3_Silent_p.V76V|SIM2_ENST00000460783.1_3'UTR NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 76 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 TGGACGGCGTCGCCAAGGAGC 0.711000 4 3 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40061783 40061783 + Missense_Mutation SNP T T A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:40061783T>A ENST00000352035.2 - 9 1125 c.995A>T c.(994-996)cAc>cTc p.H332L ACLY_ENST00000590151.1_Missense_Mutation_p.H332L|ACLY_ENST00000353196.1_Missense_Mutation_p.H332L|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Missense_Mutation_p.H332L NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 332 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) ACCATCTGGGTGCTTCTCTCG 0.567000 21 40 0 0 1 0 0 CREB3L2 64764 broad.mit.edu 37 7 137613027 137613027 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:137613027G>A ENST00000330387.6 - 2 539 c.188C>T c.(187-189)tCa>tTa p.S63L CREB3L2_ENST00000452463.1_Missense_Mutation_p.S63L|CREB3L2_ENST00000456390.1_Missense_Mutation_p.S63L|CREB3L2_ENST00000458726.1_5'UTR NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 63 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 CACCTCCATTGACACACTCTT 0.562000 T FUS fibromyxoid sarcoma 21 70 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102549998 102549998 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:102549998C>T ENST00000334701.7 - 9 2018 c.1737G>A c.(1735-1737)aaG>aaA p.K579K HSP90AA1_ENST00000216281.8_Silent_p.K457K|HSP90AA1_ENST00000441629.2_Silent_p.K278K NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 457 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) CTGAAAGCTTCTTCCGATTTT 0.373000 11 55 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197654057 197654057 + Nonsense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:197654057C>T ENST00000263956.3 - 6 853 c.764G>A c.(763-765)tGg>tAg p.W255* GTF3C3_ENST00000409364.3_Nonsense_Mutation_p.W255*|GTF3C3_ENST00000470386.1_5'UTR NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 255 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TGATCGCTCCCACAGATAACG 0.398000 4 36 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31023909 31023909 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr20:31023909G>A ENST00000375687.4 + 13 3818 c.3394G>A c.(3394-3396)Gaa>Aaa p.E1132K ASXL1_ENST00000306058.5_Missense_Mutation_p.E1127K NM_015338.5 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 1132 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CAGCATGTCAGAATCCCCACA 0.517000 """F, N, Mis""" """MDS, CMML""" 15 47 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904352 73904352 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:73904352A>G ENST00000342056.2 + 15 2469 c.2071A>G c.(2071-2073)Aac>Gac p.N691D KCNQ5_ENST00000403813.2_Missense_Mutation_p.N663D|KCNQ5_ENST00000402622.2_Missense_Mutation_p.N682D|KCNQ5_ENST00000355635.3_Missense_Mutation_p.N673D|KCNQ5_ENST00000370398.1_Missense_Mutation_p.N672D|KCNQ5_ENST00000414165.2_Missense_Mutation_p.N562D|KCNQ5_ENST00000355194.4_Missense_Mutation_p.N672D NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 672 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TTCCGCACAAAACAGTGGCTG 0.488000 13 61 0 0 1 0 0 ARMC5 79798 broad.mit.edu 37 16 31476267 31476267 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:31476267G>T ENST00000457010.2 + 4 2624 c.1923G>T c.(1921-1923)atG>atT p.M641I ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000563544.1_Intron|ARMC5_ENST00000538189.1_Intron NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 447 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CCTCCCCCATGGCTTCCATGG 0.662000 7 29 5.18039e-06 5.38053e-06 1 1 0 C17orf82 388407 broad.mit.edu 37 17 59489466 59489466 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:59489466G>A ENST00000335108.2 + 1 355 c.130G>A c.(130-132)Gag>Aag p.E44K NM_203425.1 NP_982249 Q86X59 CQ082_HUMAN chromosome 17 open reading frame 82 44 cervix(1)|lung(1) 2 CCTTGGCCCCGAGGTGCGGAG 0.701000 OREG0024630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 12 0 0 1 0 0 DUSP4 1846 broad.mit.edu 37 8 29207676 29207676 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:29207676C>T ENST00000240100.2 - 1 509 c.120G>A c.(118-120)ccG>ccA p.P40P NM_001394.6 NP_001385.1 Q13115 DUS4_HUMAN dual specificity phosphatase 4 40 endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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 nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity endometrium(1)|large_intestine(1)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) TGCCGCCGCTCGGCAGCCCCA 0.672000 4 8 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24896321 24896321 + Missense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:24896321C>G ENST00000405141.1 + 8 1054 c.343C>G c.(343-345)Ctt>Gtt p.L115V NCOA1_ENST00000348332.3_Missense_Mutation_p.L115V|NCOA1_ENST00000406961.1_Missense_Mutation_p.L115V|NCOA1_ENST00000288599.5_Missense_Mutation_p.L115V|NCOA1_ENST00000538539.1_Missense_Mutation_p.L115V|NCOA1_ENST00000395856.3_Missense_Mutation_p.L115V|NCOA1_ENST00000407230.1_5'UTR Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 115 PAS. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTGGGACCTCTTCTTTTGGA 0.343000 T PAX3 alveolar rhadomyosarcoma 16 76 0 0 1 0 0 RABL6 55684 broad.mit.edu 37 9 139726191 139726191 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:139726191C>T ENST00000371675.3 + 6 1017 c.132C>T c.(130-132)ctC>ctT p.L44L RABL6_ENST00000371663.4_Silent_p.L159L|RABL6_ENST00000311502.7_Silent_p.L159L|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000371671.4_Silent_p.L159L|RABL6_ENST00000357466.2_Silent_p.L159L|RABL6_ENST00000432842.2_Silent_p.L121L RAB, member RAS oncogene family-like 6 ATTACATTCTCCGGGAGCTTC 0.622000 13 63 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152081719 152081719 + Missense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:152081719C>G ENST00000368804.1 - 2 3973 c.3974G>C c.(3973-3975)aGa>aCa p.R1325T NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1325 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTTCTCTTCTCTTTCCTCTCT 0.547000 17 212 0 0 1 0 0 PNPLA1 285848 broad.mit.edu 37 6 36270004 36270004 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:36270004C>T ENST00000394571.2 + 6 1142 c.1142C>T c.(1141-1143)cCc>cTc p.P381L PNPLA1_ENST00000312917.5_Missense_Mutation_p.P295L|PNPLA1_ENST00000388715.3_Missense_Mutation_p.P286L NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 381 Pro-rich. lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 CACAAGCCACCCAGCTCCACA 0.577000 OREG0017382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 68 0 0 1 0 0 ACPP 55 broad.mit.edu 37 3 132063860 132063860 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:132063860C>T ENST00000336375.5 + 7 828 c.738C>T c.(736-738)ctC>ctT p.L246L ACPP_ENST00000351273.7_Silent_p.L246L|ACPP_ENST00000475741.1_Silent_p.L213L NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 246 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 TCCTGTCCCTCTATGGAATTC 0.433000 25 30 0 0 1 0 0 ERAP1 51752 broad.mit.edu 37 5 96132899 96132899 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:96132899C>T ENST00000296754.3 - 4 1034 c.777G>A c.(775-777)aaG>aaA p.K259K ERAP1_ENST00000443439.2_Silent_p.K259K NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 259 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) TCTTGGTTATCTTGCTGACAG 0.443000 20 33 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48273851 48273851 + Silent SNP A A T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:48273851A>T ENST00000225964.5 - 13 1015 c.897T>A c.(895-897)ggT>ggA p.G299G NM_000088.3 NP_000079 P02452 CO1A1_HUMAN collagen, type I, alpha 1 299 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) TCACCATCTGACCAGGAGCTC 0.567000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 22 61 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66937064 66937064 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:66937064T>C ENST00000269080.2 - 3 273 c.136A>G c.(136-138)Ata>Gta p.I46V ABCA8_ENST00000586539.1_Missense_Mutation_p.I46V|ABCA8_ENST00000430352.2_Missense_Mutation_p.I46V NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 46 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) TGAGGATATATATACAAACAA 0.313000 13 38 0 0 1 0 0 BTRC 8945 broad.mit.edu 37 10 103281473 103281473 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:103281473G>A ENST00000370187.3 + 5 520 c.402G>A c.(400-402)aaG>aaA p.K134K BTRC_ENST00000393441.4_Silent_p.K93K|BTRC_ENST00000408038.2_Silent_p.K98K NM_033637.3 NP_378663.1 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing E3 ubiquitin protein ligase 134 Homodimerization domain D. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex p.K134N(1) endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) AAAAGGAAAAGGAACTGTGTG 0.418000 12 30 0 0 1 0 0 SLC36A1 206358 broad.mit.edu 37 5 150838432 150838432 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:150838432G>A ENST00000243389.3 + 2 302 c.79G>A c.(79-81)Gaa>Aaa p.E27K SLC36A1_ENST00000520701.1_Missense_Mutation_p.E27K|SLC36A1_ENST00000521351.1_3'UTR|SLC36A1_ENST00000429484.2_Missense_Mutation_p.E27K|SLC36A1_ENST00000521925.1_Missense_Mutation_p.E27K NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 27 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) GAGCCCGTCGGAAGGCCTCAA 0.597000 5 38 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152589235 152589235 + Missense_Mutation SNP C C G rs112539022 TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:152589235C>G ENST00000367255.5 - 100 19372 c.18771G>C c.(18769-18771)gaG>gaC p.E6257D SYNE1_ENST00000448038.1_Missense_Mutation_p.E6186D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E6257D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E5869D|SYNE1_ENST00000356820.4_Missense_Mutation_p.E781D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E6186D NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6257 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) GAATTAGAATCTCCTCTCCAC 0.458000 HNSCC(10;0.0054) 19 24 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102294714 102294714 + RNA SNP A A T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:102294714A>T ENST00000561463.1 + 0 2760 GAGCAGGCAGACCAAGGAGTT 0.592000 4 19 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47162815 47162815 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:47162815T>C ENST00000409792.3 - 3 3353 c.3311A>G c.(3310-3312)gAg>gGg p.E1104G NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1104 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CTCCAATCTCTCATCTTCCCA 0.383000 """N, F, S, Mis""" clear cell renal carcinoma 12 67 0 0 1 0 0 LY75-CD302 100526664 broad.mit.edu 37 2 160636585 160636585 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:160636585T>C ENST00000504764.1 - 37 5350 c.5323A>G c.(5323-5325)Aag>Gag p.K1775E CD302_ENST00000480212.1_5'UTR|LY75_ENST00000553424.1_Missense_Mutation_p.K1719E|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.K1719E|LY75_ENST00000554112.1_Missense_Mutation_p.K1775E|CD302_ENST00000259053.4_Missense_Mutation_p.K134E|CD302_ENST00000429078.2_Intron NM_001198759.1 NP_001185688.1 O60449 LY75_HUMAN 1641 endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding TCACCTGTCTTGATGTGCAGA 0.373000 6 32 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431699 56431699 + Missense_Mutation SNP G G A rs138342920 TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:56431699G>A ENST00000302969.2 + 1 562 c.538G>A c.(538-540)Gaa>Aaa p.E180K NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E180K(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 TTTCTTCTGCGAAATCCCACC 0.483000 10 96 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100679488 100679488 + Silent SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:100679488T>C ENST00000306151.4 + 3 4855 c.4791T>C c.(4789-4791)ccT>ccC p.P1597P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1597 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAACAACCCCTATTGACTCCA 0.473000 114 167 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15760796 15760796 + Silent SNP C C T rs143130734 byFrequency TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:15760796C>T ENST00000378076.3 - 2 665 c.312G>A c.(310-312)gcG>gcA p.A104A NM_003638.1 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 104 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GCCTGCACTGCGCAGACCCCT 0.602000 17 78 0 0 1 0 0 CASC5 57082 broad.mit.edu 37 15 40916776 40916776 + Silent SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:40916776T>C ENST00000346991.5 + 11 4782 c.4392T>C c.(4390-4392)taT>taC p.Y1464Y CASC5_ENST00000399668.2_Silent_p.Y1438Y Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 1464 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) ATGACATTTATGTTATTCCTC 0.353000 32 24 0 0 1 0 0 LIMK2 3985 broad.mit.edu 37 22 31655170 31655170 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr22:31655170G>A ENST00000331728.4 + 4 430 c.316G>A c.(316-318)Gag>Aag p.E106K LIMK2_ENST00000333611.4_Missense_Mutation_p.E85K|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000340552.4_Missense_Mutation_p.E85K|LIMK2_ENST00000406516.1_Missense_Mutation_p.E28K NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 106 LIM zinc-binding 2. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 GGTGATCATTGAGGATGGGGA 0.542000 18 9 0 0 1 0 0 SDS 10993 broad.mit.edu 37 12 113830899 113830899 + Silent SNP A A G rs147130309 TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:113830899A>G ENST00000257549.4 - 8 956 c.834T>C c.(832-834)taT>taC p.Y278Y NM_006843.2 NP_006834.2 P20132 SDHL_HUMAN serine dehydratase 278 gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process cytoplasm L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1) 11 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TCACGTGGCTATAGACAGCGG 0.647000 53 63 0 0 1 0 0 PRG2 5553 broad.mit.edu 37 11 57156097 57156097 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:57156097C>T ENST00000311862.5 - 4 524 c.451G>A c.(451-453)Gcg>Acg p.A151T PRG2_ENST00000525955.1_Missense_Mutation_p.A151T|PRG2_ENST00000533605.1_Missense_Mutation_p.A140T NM_001243245.1|NM_002728.4 NP_001230174.1|NP_002719.3 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGTTGAGCGCGCTGACAGAA 0.507000 38 133 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31602666 31602666 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:31602666C>T ENST00000376033.2 + 21 5306 c.5072C>T c.(5071-5073)tCa>tTa p.S1691L PRRC2A_ENST00000376007.4_Missense_Mutation_p.S1691L NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1691 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 GGAGGCTCCTCACCCCTGAAT 0.602000 20 56 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6202515 6202515 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:6202515T>C ENST00000262450.3 - 14 2293 c.2194A>G c.(2194-2196)Acg>Gcg p.T732A CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 732 Helicase ATP-binding. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GTCTGCACCGTCTTGCCCAGA 0.652000 12 24 0 0 1 0 0 FAM120A 23196 broad.mit.edu 37 9 96305554 96305554 + Nonsense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:96305554C>T ENST00000277165.6 + 11 2154 c.1960C>T c.(1960-1962)Caa>Taa p.Q654* FAM120A_ENST00000333936.5_Nonsense_Mutation_p.Q682*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.Q654* NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 654 cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 AAAGTCTCCTCAAACCCCGGA 0.498000 25 86 0 0 1 0 0 COX5A 9377 broad.mit.edu 37 15 75219172 75219172 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:75219172C>T ENST00000322347.6 - 3 427 c.274G>A c.(274-276)Gct>Act p.A92T COX5A_ENST00000567270.1_Missense_Mutation_p.A53T|COX5A_ENST00000568517.1_Missense_Mutation_p.A11T|COX5A_ENST00000564811.1_Missense_Mutation_p.A92T|COX5A_ENST00000562233.1_Intron|COX5A_ENST00000568783.1_Missense_Mutation_p.A92T NM_004255.3 NP_004246.2 P20674 COX5A_HUMAN cytochrome c oxidase subunit Va 92 respiratory electron transport chain mitochondrial inner membrane cytochrome-c oxidase activity|electron carrier activity|metal ion binding endometrium(1)|large_intestine(1)|pancreas(1) 3 GCCCGCAAAGCAGCATCAATG 0.398000 5 39 0 0 1 0 0 BTN1A1 696 broad.mit.edu 37 6 26502082 26502082 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:26502082G>A ENST00000244513.6 + 2 410 c.344G>A c.(343-345)aGa>aAa p.R115K NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 115 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 CGTGGCGTCAGAGTCTCTGAC 0.627000 3 30 0 0 1 0 0 USPL1 10208 broad.mit.edu 37 13 31216887 31216887 + Nonsense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr13:31216887C>T ENST00000255304.4 + 6 1447 c.1105C>T c.(1105-1107)Caa>Taa p.Q369* NM_005800.4 NP_005791.3 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 369 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3) 34 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) ACACCAATATCAAAACAGGTT 0.373000 30 103 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247587654 247587654 + Silent SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:247587654C>A ENST00000366497.2 + 4 1689 c.909C>A c.(907-909)ggC>ggA p.G303G NLRP3_ENST00000366496.2_Silent_p.G303G|NLRP3_ENST00000336119.3_Silent_p.G303G|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.G303G|NLRP3_ENST00000348069.2_Silent_p.G303G|NLRP3_ENST00000391827.2_Silent_p.G303G NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 303 NACHT. 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) TCATGGACGGCTTCGATGAGC 0.587000 17 94 5.3912e-06 5.59117e-06 1 1 0 CYP1A2 1544 broad.mit.edu 37 15 75042168 75042168 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:75042168G>A ENST00000343932.4 + 2 152 c.89G>A c.(88-90)gGt>gAt p.G30D NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 30 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) GTGCTCAAGGGTTTGAGGCCT 0.602000 21 114 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212799107 212799107 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:212799107G>A ENST00000294829.3 + 1 1319 c.888G>A c.(886-888)ttG>ttA p.L296L RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 296 Ala-rich. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) cagGTGCCTTGAGTGTGGCAG 0.617000 27 7 0 0 1 0 0 CRTC2 200186 broad.mit.edu 37 1 153921078 153921078 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:153921078G>C ENST00000368633.1 - 13 1844 c.1717C>G c.(1717-1719)Ctg>Gtg p.L573V CRTC2_ENST00000368630.3_Missense_Mutation_p.L253V NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 573 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGGGGATCCAGCACCAGGCTG 0.542000 8 100 0 0 1 0 0 C19orf47 126526 broad.mit.edu 37 19 40827846 40827846 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:40827846C>T ENST00000582783.1 - 9 1224 c.1212G>A c.(1210-1212)caG>caA p.Q404Q C19orf47_ENST00000392035.2_Silent_p.Q337Q|C19orf47_ENST00000584868.1_Intron NM_001256440.1 NP_001243369.1 Q8N9M1 CS047_HUMAN chromosome 19 open reading frame 47 404 endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Lung(22;0.000636) CGTGGTCCATCTGGGCACCAA 0.652000 20 17 0 0 1 0 0 ZNF512 84450 broad.mit.edu 37 2 27838103 27838103 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:27838103C>T ENST00000355467.4 + 11 1283 c.1200C>T c.(1198-1200)atC>atT p.I400I RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_Silent_p.I371I|ZNF512_ENST00000379717.1_Silent_p.I399I|ZNF512_ENST00000556601.1_Silent_p.I269I|ZNF512_ENST00000413371.2_Silent_p.I323I NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3 NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2 Q96ME7 ZN512_HUMAN zinc finger protein 512 400 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) AGACAGATATCAAGAAATATC 0.363000 32 64 0 0 1 0 0 KRT71 112802 broad.mit.edu 37 12 52946458 52946458 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:52946458T>C ENST00000267119.5 - 1 473 c.404A>G c.(403-405)aAg>aGg p.K135R NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 135 Coil 1A.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) GTTCAGAGCCTTGATCTGCTC 0.567000 35 57 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24989249 24989249 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:24989249A>G ENST00000323848.9 + 12 1897 c.1582A>G c.(1582-1584)Agt>Ggt p.S528G SRRM1_ENST00000374389.4_Missense_Mutation_p.S523G|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.S526G NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 528 Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CCCTTCCCGGAGTGCTTCTCC 0.502000 5 55 0 0 1 0 0 ANO8 57719 broad.mit.edu 37 19 17436060 17436060 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:17436060C>T ENST00000159087.4 - 17 2955 c.2797G>A c.(2797-2799)Gag>Aag p.E933K NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 933 chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 CCAGAGCCCTCGGCCCTCGCC 0.721000 17 31 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123202445 123202445 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chrX:123202445G>A ENST00000371160.1 + 24 2587 c.2297G>A c.(2296-2298)aGa>aAa p.R766K STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.R766K|STAG2_ENST00000218089.9_Missense_Mutation_p.R766K|STAG2_ENST00000371157.3_Missense_Mutation_p.R766K|STAG2_ENST00000371145.3_Missense_Mutation_p.R766K|STAG2_ENST00000354548.5_Missense_Mutation_p.R697K NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 766 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 AAACAAATGAGAGTATTTTGT 0.279000 60 36 0 0 1 0 0 SRRT 51593 broad.mit.edu 37 7 100479013 100479013 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:100479013A>G ENST00000388793.4 + 3 450 c.230A>G c.(229-231)cAg>cGg p.Q77R SRRT_ENST00000457580.2_Missense_Mutation_p.Q77R|SRRT_ENST00000347433.4_Missense_Mutation_p.Q77R|SRRT_ENST00000432932.1_Missense_Mutation_p.Q77R NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 77 Arg-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 AGCCCGCCACAGAAGCGCATG 0.632000 31 32 0 0 1 0 0 CCDC36 339834 broad.mit.edu 37 3 49293807 49293807 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:49293807A>G ENST00000438782.1 + 8 1113 c.877A>G c.(877-879)Aaa>Gaa p.K293E CCDC36_ENST00000296449.5_Missense_Mutation_p.K293E|CCDC36_ENST00000452691.2_Missense_Mutation_p.K293E Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 293 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) CACCTCTGAGAAACCAGTTTT 0.532000 22 23 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13345768 13345768 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:13345768C>T ENST00000360228.5 - 34 5215 c.5216G>A c.(5215-5217)cGg>cAg p.R1739Q CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1740Q|CACNA1A_ENST00000574822.1_5'UTR NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1740 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GAAGAAGGTCCGGAAGTTATT 0.522000 OREG0025293 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 86 0 0 1 0 0 DENND4C 55667 broad.mit.edu 37 9 19316750 19316750 + Missense_Mutation SNP T T G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:19316750T>G ENST00000380432.2 + 8 1045 c.1012T>G c.(1012-1014)Tta>Gta p.L338V DENND4C_ENST00000602925.1_Missense_Mutation_p.L574V|DENND4C_ENST00000434457.2_Missense_Mutation_p.L574V Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 338 dDENN. integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GGCGTCTATTTTAAAAGGATA 0.413000 80 48 0 0 1 0 0 SBSPON 157869 broad.mit.edu 37 8 74005141 74005141 + Missense_Mutation SNP T T G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:74005141T>G ENST00000297354.6 - 1 366 c.162A>C c.(160-162)caA>caC p.Q54H SBSPON_ENST00000519697.1_Intron NM_153225.3 NP_694957.3 Q8IVN8 RPESP_HUMAN somatomedin B and thrombospondin, type 1 domain containing 54 SMB. immune response extracellular region polysaccharide binding|scavenger receptor activity AGCGACAGGCTTGGTCGCAGA 0.716000 12 28 0 0 1 0 0 PTPN4 5775 broad.mit.edu 37 2 120567446 120567446 + Missense_Mutation SNP G G A rs144223649 byFrequency TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:120567446G>A ENST00000263708.2 + 2 788 c.17G>A c.(16-18)cGa>cAa p.R6Q PTPN4_ENST00000460162.1_3'UTR NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 6 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) TCACGTTTCCGATTGCCTGCT 0.393000 4 76 0 0 1 0 0 NNAT 4826 broad.mit.edu 37 20 36150803 36150803 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr20:36150803G>A ENST00000062104.2 + 2 233 c.116G>A c.(115-117)cGa>cAa p.R39Q BLCAP_ENST00000397131.1_Intron|BLCAP_ENST00000373537.2_Intron|BLCAP_ENST00000397137.1_Intron|NNAT_ENST00000346199.2_Intron|BLCAP_ENST00000414542.2_Intron|BLCAP_ENST00000397135.1_Intron NM_005386.2 NP_005377.1 Q16517 NNAT_HUMAN neuronatin 39 brain development|protein lipoylation|transport endometrium(1)|kidney(1)|lung(1) 3 Myeloproliferative disorder(115;0.00878) TTCGCTTTTCGAAATCCTCCA 0.483000 23 54 0 0 1 0 0 ALKBH4 54784 broad.mit.edu 37 7 102100147 102100147 + Silent SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:102100147C>G ENST00000292566.3 - 2 264 c.225G>C c.(223-225)ctG>ctC p.L75L NM_017621.3 NP_060091.1 Q9NXW9 ALKB4_HUMAN alkB, alkylation repair homolog 4 (E. coli) 75 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(5)|skin(2) 8 AGTCCTCGATCAGCATCACTC 0.597000 13 112 0 0 1 0 0 CATSPER3 347732 broad.mit.edu 37 5 134332048 134332048 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:134332048G>T ENST00000282611.6 + 3 424 c.338G>T c.(337-339)gGc>gTc p.G113V NM_178019.2 NP_821138.1 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 113 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGGAAGAACGGCTACAACCTG 0.468000 13 49 2.68362e-12 2.85953e-12 1 1 0 HBP1 26959 broad.mit.edu 37 7 106826323 106826323 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:106826323C>T ENST00000222574.4 + 4 662 c.476C>T c.(475-477)tCg>tTg p.S159L HBP1_ENST00000485846.1_Missense_Mutation_p.S159L|HBP1_ENST00000468410.1_Missense_Mutation_p.S159L NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 159 Poly-Ser. cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 TCCTCTTCTTCGAAGAGTGAA 0.408000 62 130 0 0 1 0 0 COX7A2 1347 broad.mit.edu 37 6 75953506 75953506 + Nonsense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:75953506C>T ENST00000370081.2 - 2 351 c.41G>A c.(40-42)tGg>tAg p.W14* COX7A2_ENST00000230459.4_5'UTR|COX7A2_ENST00000509698.1_5'UTR|COX7A2_ENST00000370089.2_Nonsense_Mutation_p.W14* P14406 CX7A2_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 (liver) 0 mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity kidney(2)|lung(1) 3 CGAAAATGGCCACGCCGGAAC 0.522000 17 53 0 0 1 0 0 IL12A 3592 broad.mit.edu 37 3 159710865 159710865 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:159710865G>A ENST00000305579.2 + 3 638 c.331G>A c.(331-333)Gat>Aat p.D111N IL12A_ENST00000480787.1_Intron|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000466512.1_Missense_Mutation_p.D111N NM_000882.3 NP_000873.2 P29459 IL12A_HUMAN interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) 77 cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus interleukin-12 complex cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4) 9 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TATCACAAAAGATAAAACCAG 0.378000 24 64 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38888638 38888638 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:38888638G>C ENST00000302328.3 - 26 5121 c.4923C>G c.(4921-4923)atC>atG p.I1641M SCN11A_ENST00000456224.3_Missense_Mutation_p.I1603M|SCN11A_ENST00000450244.1_Missense_Mutation_p.I1641M NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1641 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) CAGAATATTTGATAAATTGTG 0.413000 30 85 0 0 1 0 0 LECT2 3950 broad.mit.edu 37 5 135283058 135283058 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:135283058C>T ENST00000274507.1 - 4 618 c.418G>A c.(418-420)Gaa>Aaa p.E140K LECT2_ENST00000512872.1_Missense_Mutation_p.E68K|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000522943.1_Intron|LECT2_ENST00000471827.1_Intron NM_002302.2 NP_002293.2 O14960 LECT2_HUMAN leukocyte cell-derived chemotaxin 2 140 chemotaxis|skeletal system development cytoplasm|extracellular space large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCACAGTTTTCAATGTGCACA 0.398000 51 85 0 0 1 0 0 SSFA2 6744 broad.mit.edu 37 2 182778577 182778577 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:182778577C>T ENST00000431877.2 + 10 1671 c.1492C>T c.(1492-1494)Ctg>Ttg p.L498L SSFA2_ENST00000409001.1_Silent_p.L498L|SSFA2_ENST00000409136.1_Silent_p.L7L|SSFA2_ENST00000428267.2_Silent_p.L345L|SSFA2_ENST00000320370.7_Silent_p.L498L NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 498 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) CATAGATCATCTGTTACGTAC 0.333000 9 33 0 0 1 0 0 HAS3 3038 broad.mit.edu 37 16 69152336 69152336 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:69152336C>T ENST00000219322.3 + 4 877 c.817C>T c.(817-819)Cac>Tac p.H273Y CHTF8_ENST00000448552.2_3'UTR|CHTF8_ENST00000306585.6_3'UTR|CHTF8_ENST00000518041.1_3'UTR|CHTF8_ENST00000523421.1_3'UTR NM_138612.2 NP_619515.1 O00219 HAS3_HUMAN hyaluronan synthase 3 0 carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2) 16 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) ATGGTCCGTTCACCAACGCCA 0.547000 5 22 0 0 1 0 0 INTS3 65123 broad.mit.edu 37 1 153735292 153735292 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:153735292C>T ENST00000456435.1 + 15 2173 c.987C>T c.(985-987)ttC>ttT p.F329F INTS3_ENST00000435409.2_Silent_p.F535F|INTS3_ENST00000512605.1_Silent_p.F329F|INTS3_ENST00000318967.2_Silent_p.F535F|INTS3_ENST00000476843.1_3'UTR Q68E01 INT3_HUMAN integrator complex subunit 3 536 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AGGCAGCCTTCAGTGACGATG 0.502000 34 23 0 0 1 0 0 IPCEF1 26034 broad.mit.edu 37 6 154542425 154542425 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:154542425A>G ENST00000265198.4 - 7 510 c.355T>C c.(355-357)Tat>Cat p.Y119H IPCEF1_ENST00000367220.4_Missense_Mutation_p.Y120H|IPCEF1_ENST00000519344.1_Missense_Mutation_p.Y91H|IPCEF1_ENST00000422970.2_Missense_Mutation_p.Y120H|OPRM1_ENST00000337049.4_Intron NM_001130700.1|NM_015553.2 NP_001124172.1|NP_056368.1 interaction protein for cytohesin exchange factors 1 breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 12 GCTGCAAAATAAAAGGTCTTG 0.383000 12 32 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 72039279 72039279 + Silent SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:72039279G>C ENST00000355327.3 + 13 2273 c.2139G>C c.(2137-2139)acG>acC p.T713T THSD4_ENST00000357769.4_Silent_p.T353T|THSD4_ENST00000261862.6_Silent_p.T713T|THSD4_ENST00000567838.1_3'UTR Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 713 TSP type-1 2. proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GCAGCCTGACGGTGCAGCCCT 0.642000 8 21 0 0 1 0 0 LILRB3 11025 broad.mit.edu 37 19 54725924 54725924 + Missense_Mutation SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:54725924C>A ENST00000391750.1 - 5 570 c.434G>T c.(433-435)gGc>gTc p.G145V LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000346401.6_Missense_Mutation_p.G145V|LILRB3_ENST00000407860.2_Missense_Mutation_p.G145V|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000424807.1_Missense_Mutation_p.G145V|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000245620.9_Missense_Mutation_p.G145V O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 145 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTTCTGTGAGCCACATCGGAG 0.592000 11 39 0.00136819 0.00138604 1 1 0 BCL6B 255877 broad.mit.edu 37 17 6927475 6927475 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:6927475G>A ENST00000293805.5 + 3 345 c.253G>A c.(253-255)Gaa>Aaa p.E85K BCL6B_ENST00000572216.1_Intron NM_181844.3 NP_862827 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 85 BTB. nucleus zinc ion binding skin(1) 1 CGGGGGTCCCGAAGCGAGAGG 0.597000 84 44 0 0 1 0 0 KIRREL3 84623 broad.mit.edu 37 11 126314947 126314947 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:126314947C>T ENST00000525144.2 - 10 1428 c.1179G>A c.(1177-1179)gcG>gcA p.A393A KIRREL3_ENST00000525704.2_Silent_p.A393A|KIRREL3_ENST00000529097.2_Silent_p.A393A NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) 393 Ig-like C2-type 4. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) CGTACTTGCCCGCGTCCTCCT 0.642000 8 58 0 0 1 0 0 FAM154A 158297 broad.mit.edu 37 9 18928966 18928966 + Missense_Mutation SNP C C T rs139778740 TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:18928966C>T ENST00000380534.4 - 4 788 c.509G>A c.(508-510)aGa>aAa p.R170K FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_5'UTR NM_153707.2 NP_714918.2 Q8IYX7 F154A_HUMAN family with sequence similarity 154, member A 170 breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1) 26 GBM - Glioblastoma multiforme(50;6.53e-16) GTGTGTGGTTCTGTTATCAAA 0.478000 29 26 0 0 1 0 0 ZBTB1 22890 broad.mit.edu 37 14 64990048 64990048 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:64990048A>G ENST00000358738.3 + 2 2217 c.1826A>G c.(1825-1827)cAa>cGa p.Q609R RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000554015.1_Missense_Mutation_p.Q609R|ZBTB1_ENST00000394712.2_Missense_Mutation_p.Q609R NM_014950.2 NP_055765.2 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 609 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) TTTGTTTGTCAAACATGTGGA 0.393000 40 45 0 0 1 0 0 DCST1 149095 broad.mit.edu 37 1 155018444 155018444 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:155018444G>A ENST00000295542.1 + 11 1344 c.1248G>A c.(1246-1248)caG>caA p.Q416Q RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000368419.2_Silent_p.Q416Q|DCST1_ENST00000392480.1_Silent_p.Q416Q|DCST1_ENST00000423025.2_Silent_p.Q391Q NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 416 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) ACTTCTGCCAGATCGATGACC 0.547000 19 57 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29557315 29557315 + Nonsense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:29557315C>T ENST00000358273.4 + 23 3411 c.3028C>T c.(3028-3030)Caa>Taa p.Q1010* NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1010* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1010 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CCATGCAATTCAAATAAAAAC 0.333000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 19 11 0 0 1 0 0 TNKS 8658 broad.mit.edu 37 8 9577956 9577956 + Missense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:9577956C>G ENST00000310430.6 + 12 1848 c.1822C>G c.(1822-1824)Cgc>Ggc p.R608G TNKS_ENST00000518281.1_Missense_Mutation_p.R371G NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 608 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) GCAGACCTGCCGCCTCCTGCT 0.547000 5 36 0 0 1 0 0 APOA5 116519 broad.mit.edu 37 11 116660888 116660888 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:116660888G>A ENST00000542499.1 - 4 1129 c.1057C>T c.(1057-1059)Cac>Tac p.H353Y APOA5_ENST00000227665.4_Missense_Mutation_p.H353Y NM_001166598.1|NM_052968.4 NP_001160070.1|NP_443200.2 Q6Q788 APOA5_HUMAN apolipoprotein A-V 353 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding p.H353D(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 14 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) TGAAGGCTGTGAGTGATGTCT 0.597000 8 15 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266918 41266918 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:41266918G>T ENST00000349496.5 + 5 869 c.589G>T c.(589-591)Gct>Tct p.A197S CTNNB1_ENST00000396183.3_Missense_Mutation_p.A197S|CTNNB1_ENST00000405570.1_Missense_Mutation_p.A197S|CTNNB1_ENST00000396185.3_Missense_Mutation_p.A197S|CTNNB1_ENST00000453024.1_Missense_Mutation_p.A190S NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 197 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GATGGTGTCTGCTATTGTACG 0.463000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 5 21 0.014758 0.0148429 1 1 0 PZP 5858 broad.mit.edu 37 12 9346780 9346780 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:9346780A>G ENST00000261336.2 - 11 1175 c.1147T>C c.(1147-1149)Tct>Cct p.S383P PZP_ENST00000381997.2_Missense_Mutation_p.S252P NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TCATTCACAGAGATGAAGAAG 0.408000 15 76 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186548048 186548048 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:186548048G>A ENST00000431808.1 - 13 1423 c.860C>T c.(859-861)tCa>tTa p.S287L SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000284776.7_Missense_Mutation_p.S287L|SORBS2_ENST00000418609.1_Missense_Mutation_p.S191L|SORBS2_ENST00000437304.2_Missense_Mutation_p.S538L|SORBS2_ENST00000355634.5_Missense_Mutation_p.S387L|SORBS2_ENST00000393528.3_Missense_Mutation_p.S380L|SORBS2_ENST00000449407.2_Missense_Mutation_p.S358L|SORBS2_ENST00000319471.9_Missense_Mutation_p.S445L|SORBS2_ENST00000448662.2_Missense_Mutation_p.S375L O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 287 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) AGTGGTGCTTGATCCTGGGAG 0.512000 11 52 0 0 1 0 0 C1orf109 54955 broad.mit.edu 37 1 38155472 38155472 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:38155472C>T ENST00000358011.4 - 2 270 c.81G>A c.(79-81)ctG>ctA p.L27L C1orf109_ENST00000464085.1_Silent_p.L27L NM_017850.1 NP_060320.1 Q9NX04 CA109_HUMAN chromosome 1 open reading frame 109 27 lung(2)|prostate(2) 4 Myeloproliferative disorder(586;0.0393) CACTCTGCCACAGGCCCTGCT 0.617000 11 15 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117696870 117696870 + Silent SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:117696870G>T ENST00000317775.6 - 15 3118 c.2433C>A c.(2431-2433)acC>acA p.T811T NOS1_ENST00000338101.4_Silent_p.T811T|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 811 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CAAAGGTGCTGGTGACCACAA 0.512000 22 28 5.26018e-13 5.62212e-13 1 1 0 HFE 3077 broad.mit.edu 37 6 26087676 26087676 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:26087676C>T ENST00000357618.5 + 1 130 c.8C>T c.(7-9)cCg>cTg p.P3L HFE_ENST00000470149.1_Missense_Mutation_p.P3L|HFE_ENST00000461397.1_Missense_Mutation_p.P3L|HFE_ENST00000336625.8_Missense_Mutation_p.P3L|HFE_ENST00000353147.5_Missense_Mutation_p.P3L|HFE_ENST00000488199.1_Missense_Mutation_p.P3L|HFE_ENST00000317896.7_Missense_Mutation_p.P3L|HFE_ENST00000352392.4_Missense_Mutation_p.P3L|HFE_ENST00000397022.3_Missense_Mutation_p.P3L|HFE_ENST00000309234.6_Missense_Mutation_p.P3L|HFE_ENST00000349999.4_Missense_Mutation_p.P3L NM_000410.3|NM_139006.2 NP_000401.1|NP_620575.1 Q30201 HFE_HUMAN hemochromatosis 3 antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome protein binding endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GAAATGGGCCCGCGAGCCAGG 0.657000 Hemochromatosis 11 34 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80476094 80476094 + Missense_Mutation SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:80476094C>A ENST00000265080.4 + 18 2854 c.2787C>A c.(2785-2787)caC>caA p.H929Q NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 929 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TCTCAAAGCACGCACAGGTAA 0.408000 14 85 4.36969e-10 4.60696e-10 1 1 0 LRP1B 53353 broad.mit.edu 37 2 142237984 142237984 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:142237984G>A ENST00000389484.3 - 3 1295 c.324C>T c.(322-324)gaC>gaT p.D108D NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 108 LDL-receptor class A 2. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTACTCCTTCGTCATACCCAT 0.408000 TSP Lung(27;0.18) 36 26 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 172735740 172735740 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:172735740G>A ENST00000506823.1 + 2 666 c.9G>A c.(7-9)agG>agA p.R3R GALNTL6_ENST00000511251.1_Silent_p.R3R NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 3 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 CAATGAAGAGGAAACAGAAGA 0.433000 16 26 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72667110 72667110 + Silent SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:72667110T>C ENST00000261180.4 + 1 648 c.552T>C c.(550-552)gcT>gcC p.A184A TRHDE-AS1_ENST00000426250.3_RNA NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 184 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TGCTGCACGCTTCCCGAGTGG 0.617000 15 34 0 0 1 0 0 RHBDF2 79651 broad.mit.edu 37 17 74470516 74470516 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:74470516G>A ENST00000591885.1 - 12 1953 c.1403C>T c.(1402-1404)tCa>tTa p.S468L RHBDF2_ENST00000389760.4_Missense_Mutation_p.S468L|RHBDF2_ENST00000313080.4_Missense_Mutation_p.S497L Q6PJF5 RHDF2_HUMAN rhomboid 5 homolog 2 (Drosophila) 497 negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1) 27 ACAGCAGCCTGAGTCCCGCTC 0.652000 32 37 0 0 1 0 0 CALR3 125972 broad.mit.edu 37 19 16594792 16594792 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:16594792C>T ENST00000269881.3 - 5 689 c.627G>A c.(625-627)acG>acA p.T209T CTD-3222D19.2_ENST00000409035.1_Intron|CALR3_ENST00000602234.1_5'UTR NM_145046.4 NP_659483.2 Q96L12 CALR3_HUMAN calreticulin 3 209 4 X approximate repeats.|P-domain. protein folding endoplasmic reticulum lumen calcium ion binding|sugar binding|unfolded protein binding p.T209T(1) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1) 15 CTGCCGGGGACGTTTCCTTCT 0.418000 6 86 0 0 1 0 0 ZNF572 137209 broad.mit.edu 37 8 125989277 125989277 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:125989277G>A ENST00000319286.5 + 3 921 c.767G>A c.(766-768)aGc>aAc p.S256N NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TTCAGTCACAGCTATGTCCTA 0.438000 HNSCC(60;0.17) 39 74 0 0 1 0 0 FAM214B 80256 broad.mit.edu 37 9 35108216 35108216 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:35108216G>A ENST00000378561.1 - 2 3111 c.56C>T c.(55-57)tCa>tTa p.S19L FAM214B_ENST00000603301.1_Missense_Mutation_p.S19L|FAM214B_ENST00000322813.5_Missense_Mutation_p.S19L|FAM214B_ENST00000488109.2_Missense_Mutation_p.S19L|FAM214B_ENST00000378554.2_Missense_Mutation_p.S19L|FAM214B_ENST00000378557.1_Missense_Mutation_p.S19L|FAM214B_ENST00000605244.1_Missense_Mutation_p.S19L|FAM214B_ENST00000378566.1_5'UTR Q7L5A3 K1539_HUMAN family with sequence similarity 214, member B 19 nucleus TGGAGGCTGTGAAGGGCCAGC 0.692000 6 3 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178941935 178941935 + Missense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:178941935C>G ENST00000263967.3 + 15 2411 c.2254C>G c.(2254-2256)Ctg>Gtg p.L752V NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 752 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ACAGGGCTTTCTGTCTCCTCT 0.363000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 22 68 0 0 1 0 0 PARP10 84875 broad.mit.edu 37 8 145059316 145059316 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:145059316G>A ENST00000313028.7 - 5 948 c.854C>T c.(853-855)aCg>aTg p.T285M PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Missense_Mutation_p.T297M|PARP10_ENST00000524918.1_Missense_Mutation_p.T285M NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 285 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTGCAGAGCCGTCACCAACCC 0.657000 35 63 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108464218 108464218 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:108464218C>T ENST00000265843.4 - 1 156 c.46G>A c.(46-48)Gaa>Aaa p.E16K EXPH5_ENST00000525344.1_Missense_Mutation_p.E9K NM_015065.2 NP_055880 Q149M6 Q149M6_HUMAN exophilin 5 16 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CTGGCCTCTTCGTCATTTAAG 0.458000 55 133 0 0 1 0 0 FZD7 8324 broad.mit.edu 37 2 202900669 202900669 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:202900669C>T ENST00000286201.1 + 1 1360 c.1299C>T c.(1297-1299)ctC>ctT p.L433L NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 433 L -> F (in Ref. 1; BAA32424). 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 TCGTCTACCTCTTCATAGGCA 0.622000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 28 0 0 1 0 0 ACSL6 23305 broad.mit.edu 37 5 131322536 131322536 + Silent SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:131322536T>C ENST00000379264.2 - 8 951 c.843A>G c.(841-843)caA>caG p.Q281Q ACSL6_ENST00000544770.1_Silent_p.Q165Q|ACSL6_ENST00000379255.1_Silent_p.Q221Q|ACSL6_ENST00000296869.4_Silent_p.Q281Q|ACSL6_ENST00000379249.3_Silent_p.Q256Q|ACSL6_ENST00000543479.1_Silent_p.Q256Q|ACSL6_ENST00000379246.1_Silent_p.Q267Q|ACSL6_ENST00000431707.1_Silent_p.Q236Q|ACSL6_ENST00000379272.2_Silent_p.Q271Q|ACSL6_ENST00000357096.1_Silent_p.Q221Q|ACSL6_ENST00000379244.1_Silent_p.Q256Q|ACSL6_ENST00000379240.1_Silent_p.Q256Q NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 256 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGTGATTCTCTTGGCCACAGT 0.488000 17 18 0 0 1 0 0 USP3 9960 broad.mit.edu 37 15 63852116 63852116 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:63852116G>A ENST00000268049.7 + 8 852 c.528G>A c.(526-528)ggG>ggA p.G176G USP3_ENST00000540797.1_Silent_p.G154G|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000539772.1_Intron|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Silent_p.G181G|USP3_ENST00000380324.3_Silent_p.G198G|USP3_ENST00000536001.1_Intron|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000559711.1_Silent_p.G109G Q9Y6I4 UBP3_HUMAN ubiquitin specific peptidase 3 198 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(3)|large_intestine(7)|lung(4) 14 GBM - Glioblastoma multiforme(80;0.0187) TAAGGAATGGGAAAACAGCAG 0.388000 8 10 0 0 1 0 0 MTFR1 9650 broad.mit.edu 37 8 66582252 66582252 + Splice_Site SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:66582252C>T ENST00000262146.4 + 2 191 c.65C>T c.(64-66)tCg>tTg p.S22L MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Splice_Site_p.S22L NM_014637.3 NP_055452.3 Q15390 MTFR1_HUMAN mitochondrial fission regulator 1 22 mitochondrion|plasma membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1) 11 Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194) AGCATGCAATCGGTGAGTGCT 0.328000 12 81 0 0 1 0 0 IL10RB 3588 broad.mit.edu 37 21 34649001 34649001 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr21:34649001G>A ENST00000290200.2 + 3 382 c.274G>A c.(274-276)Gaa>Aaa p.E92K AP000295.9_ENST00000433395.2_Silent_p.L219L NM_000628.4 NP_000619.3 interleukin 10 receptor, beta p.E92K(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 AGTCAGGGCTGAATTTGCAGA 0.393000 52 117 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85435989 85435989 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:85435989T>C ENST00000359152.5 - 1 3082 c.3083A>G c.(3082-3084)tAt>tGt p.Y1028C SYTL2_ENST00000525423.1_Missense_Mutation_p.Y504C|SYTL2_ENST00000354566.3_Missense_Mutation_p.Y504C|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 0 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) GCCTTTGCCATATTGAGCAAC 0.423000 23 72 0 0 1 0 0 DYM 54808 broad.mit.edu 37 18 46860154 46860154 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr18:46860154G>A ENST00000269445.6 - 7 1021 c.564C>T c.(562-564)ttC>ttT p.F188F DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_Silent_p.F33F NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 188 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 CTTCTTTGTGGAAGAGTTGGC 0.343000 45 38 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73545471 73545471 + Silent SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:73545471G>T ENST00000224721.6 + 43 5816 c.5811G>T c.(5809-5811)ccG>ccT p.P1937P NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1932 Cadherin 18. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 AGGACAACCCGGAGAATCCAC 0.612000 3 5 0.000602214 0.000614522 1 1 0 C6orf195 154386 broad.mit.edu 37 6 2623840 2623840 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:2623840G>A ENST00000296847.3 - 3 740 c.217C>T c.(217-219)Cct>Tct p.P73S NM_152554.2 NP_689767.2 Q96MT4 CF195_HUMAN chromosome 6 open reading frame 195 73 cervix(1)|endometrium(1)|lung(2)|skin(1) 5 Ovarian(93;0.0412) all_hematologic(90;0.0895) GATGGGGCAGGAACTGAGGGG 0.622000 18 30 0 0 1 0 0 FAM127A 8933 broad.mit.edu 37 X 134166413 134166413 + Translation_Start_Site SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chrX:134166413G>A ENST00000257013.7 + 0 81 FAM127A_ENST00000464369.1_3'UTR NM_001078171.1 NP_001071639.1 A6ZKI3 F127A_HUMAN family with sequence similarity 127, member A endometrium(3)|urinary_tract(1) 4 Acute lymphoblastic leukemia(192;0.000127) GAGGAGCAGCGATGGACGGTC 0.652000 19 9 0 0 1 0 0 C8orf76 84933 broad.mit.edu 37 8 124238837 124238837 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:124238837G>A ENST00000276704.4 - 5 902 c.851C>T c.(850-852)tCg>tTg p.S284L ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.S252L|C8orf76_ENST00000521310.1_5'UTR NM_032847.2 NP_116236.1 Q96K31 CH076_HUMAN chromosome 8 open reading frame 76 284 binding p.S284L(1) NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4) 17 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) CAAAGCAAACGATGTTTGCTG 0.443000 65 48 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45872219 45872219 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:45872219T>C ENST00000391945.4 - 4 292 c.215A>G c.(214-216)tAc>tGc p.Y72C ERCC2_ENST00000391940.4_Missense_Mutation_p.Y48C|ERCC2_ENST00000391944.3_Missense_Mutation_p.Y72C|ERCC2_ENST00000221481.6_Missense_Mutation_p.Y72C|ERCC2_ENST00000485403.2_Missense_Mutation_p.Y48C NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 72 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|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|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) TCTTGAGCAGTAGATGAGTTT 0.577000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 28 100 0 0 1 0 0 C11orf82 220042 broad.mit.edu 37 11 82645075 82645075 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:82645075G>A ENST00000533655.1 + 6 2907 c.2695G>A c.(2695-2697)Gag>Aag p.E899K C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Missense_Mutation_p.E598K|C11orf82_ENST00000430323.2_Missense_Mutation_p.E899K|C11orf82_ENST00000528759.1_3'UTR NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 899 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 TGATCAACAAGAGTTACCAAG 0.363000 12 23 0 0 1 0 0 VCPIP1 80124 broad.mit.edu 37 8 67577417 67577417 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:67577417G>T ENST00000310421.4 - 1 2035 c.1777C>A c.(1777-1779)Cct>Act p.P593T NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 593 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) AAAGTAATAGGGAAAGCTTCT 0.398000 58 73 1.00798e-23 1.09068e-23 1 1 0 RNF175 285533 broad.mit.edu 37 4 154669824 154669824 + Nonsense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:154669824C>T ENST00000347063.4 - 3 591 c.219G>A c.(217-219)tgG>tgA p.W73* RNF175_ENST00000506505.1_5'UTR|RNF175_ENST00000274068.4_5'UTR NM_173662.2 NP_775933 Q8N4F7 RN175_HUMAN ring finger protein 175 73 integral to membrane zinc ion binding breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 13 all_hematologic(180;0.093) Renal(120;0.118) GCCTCTGTCTCCACTGAACCA 0.527000 4 6 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186570784 186570784 + Nonsense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:186570784G>A ENST00000431808.1 - 10 969 c.406C>T c.(406-408)Cag>Tag p.Q136* SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000284776.7_Nonsense_Mutation_p.Q136*|SORBS2_ENST00000418609.1_Nonsense_Mutation_p.Q40*|SORBS2_ENST00000437304.2_Nonsense_Mutation_p.Q315*|SORBS2_ENST00000355634.5_Nonsense_Mutation_p.Q236*|SORBS2_ENST00000393528.3_Nonsense_Mutation_p.Q182*|SORBS2_ENST00000449407.2_Nonsense_Mutation_p.Q207*|SORBS2_ENST00000319471.9_Nonsense_Mutation_p.Q222*|SORBS2_ENST00000448662.2_Nonsense_Mutation_p.Q205* O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 136 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GGGTGTGACTGAGCACTGTAG 0.443000 18 26 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145311117 145311117 + Missense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:145311117C>G ENST00000342960.5 + 13 1851 c.1816C>G c.(1816-1818)Caa>Gaa p.Q606E NBPF10_ENST00000369338.1_Missense_Mutation_p.Q335E|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Missense_Mutation_p.Q335E NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 606 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TCGGTGGGATCAAGTGAAAAA 0.463000 26 861 0 0 1 0 0 SPEF1 25876 broad.mit.edu 37 20 3758958 3758958 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr20:3758958C>T ENST00000379756.3 - 7 772 c.612G>A c.(610-612)caG>caA p.Q204Q SPEF1_ENST00000463490.1_5'UTR NM_015417.4 NP_056232.2 Q9Y4P9 SPEF1_HUMAN sperm flagellar 1 204 cilium axoneme|cytoplasm|cytoskeleton cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 TTACCTTCATCTGCAGGACCT 0.682000 8 14 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 32338285 32338285 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:32338285G>A ENST00000396193.1 - 1 656 c.63C>T c.(61-63)atC>atT p.I21I NM_001191058.1 NP_001177987.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 0 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TGTAGCCATCGATGCTGAAAG 0.622000 8 12 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152080459 152080459 + Missense_Mutation SNP C C T rs71585886 TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:152080459C>T ENST00000368804.1 - 2 5233 c.5234G>A c.(5233-5235)cGc>cAc p.R1745H NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1745 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTTTCTGTAGCGTTCTTGGCG 0.587000 10 104 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677949 37677949 + Missense_Mutation SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:37677949C>A ENST00000532828.2 - 5 741 c.490G>T c.(490-492)Ggg>Tgg p.G164W ZNF585B_ENST00000531805.1_Missense_Mutation_p.G109W|ZNF585B_ENST00000527838.1_Intron|ZNF585B_ENST00000312908.5_Intron|CTC-454I21.3_ENST00000585860.2_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 164 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAAGCCCTCCCACATTCAATA 0.398000 5 195 0.000602214 0.000614522 1 1 0 KPRP 448834 broad.mit.edu 37 1 152732188 152732188 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:152732188G>A ENST00000368773.1 + 2 182 c.124G>A c.(124-126)Gag>Aag p.E42K KPRP_ENST00000606109.1_Missense_Mutation_p.E42K NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 42 Gln-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGCCCCTTGTGAGATGCAAAT 0.582000 21 128 0 0 1 0 0 WDR46 9277 broad.mit.edu 37 6 33254944 33254944 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:33254944C>T ENST00000374617.4 - 9 1295 c.939G>A c.(937-939)ctG>ctA p.L313L NM_001164267.1|NM_005452.5 NP_001157739.1|NP_005443.3 O15213 WDR46_HUMAN WD repeat domain 46 313 NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 20 CTCGAGCATTCAGAGCTGCCA 0.502000 14 59 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99467239 99467239 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:99467239G>A ENST00000268035.6 + 12 3231 c.2620G>A c.(2620-2622)Gag>Aag p.E874K IGF1R_ENST00000558762.1_Missense_Mutation_p.E874K NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 874 Fibronectin type-III 3. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) ATCACAAGTTGAGGTAGGACT 0.473000 27 24 0 0 1 0 0 RIPK3 11035 broad.mit.edu 37 14 24808663 24808663 + Splice_Site SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:24808663G>A ENST00000216274.5 - 2 379 c.161C>T c.(160-162)tCg>tTg p.S54L RIPK3_ENST00000554338.1_5'UTR NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 54 Protein kinase. apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) GGTCACTCACGAGTTTACGAT 0.607000 22 107 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158746945 158746945 + Missense_Mutation SNP T T G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:158746945T>G ENST00000339258.1 - 1 480 c.481A>C c.(481-483)Atc>Ctc p.I161L NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) GAGGCAAGGATGACCTCAGAA 0.502000 10 83 0 0 1 0 0 TBK1 29110 broad.mit.edu 37 12 64891001 64891001 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:64891001G>A ENST00000331710.5 + 18 2260 c.1921G>A c.(1921-1923)Gaa>Aaa p.E641K NM_013254.3 NP_037386.1 Q9UHD2 TBK1_HUMAN TANK-binding kinase 1 641 I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1) 20 GBM - Glioblastoma multiforme(28;0.0386) TTTTGATATTGAAGAAGAAGT 0.308000 41 64 0 0 1 0 0 NLN 57486 broad.mit.edu 37 5 65054536 65054536 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:65054536G>A ENST00000380985.5 + 2 362 c.184G>A c.(184-186)Gag>Aag p.E62K NLN_ENST00000502464.1_Intron NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 62 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) AACAAGAACTGAGGAGCTCAT 0.448000 4 51 0 0 1 0 0 HOXD11 3237 broad.mit.edu 37 2 176973754 176973754 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:176973754C>T ENST00000249504.5 + 2 971 c.901C>T c.(901-903)Cgg>Tgg p.R301W HOXD11_ENST00000498438.1_3'UTR|HOXD10_ENST00000490088.2_3'UTR NM_021192.2 NP_067015.2 P31277 HXD11_HUMAN homeobox D11 301 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) TCAACTCTCTCGGATGCTCAA 0.448000 T NUP98 AML 66 108 0 0 1 0 0 UNCX 340260 broad.mit.edu 37 7 1273287 1273287 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:1273287G>A ENST00000316333.8 + 2 517 c.406G>A c.(406-408)Gag>Aag p.E136K NM_001080461.1 NP_001073930.1 A6NJT0 UNC4_HUMAN UNC homeobox 136 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|skin(1)|upper_aerodigestive_tract(1) 4 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GTTCATGCGCGAGGCGCTGGC 0.677000 23 39 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43496616 43496616 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:43496616C>T ENST00000265351.7 - 24 2935 c.2725G>A c.(2725-2727)Gaa>Aaa p.E909K POLR1C_ENST00000304004.3_Intron NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 909 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) ACCAGGGCTTCATAGTGCTCT 0.478000 6 15 0 0 1 0 0 ZNF483 158399 broad.mit.edu 37 9 114305017 114305017 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:114305017A>G ENST00000309235.5 + 6 1960 c.1802A>G c.(1801-1803)cAc>cGc p.H601R ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 601 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 CAGAGAATTCACACTGGAGAA 0.388000 18 55 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21811370 21811370 + Missense_Mutation SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:21811370A>G ENST00000206660.6 + 21 3515 c.3515A>G c.(3514-3516)cAc>cGc p.H1172R RPGRIP1_ENST00000556336.1_Missense_Mutation_p.H829R|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.H1172R|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.H531R|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.H498R|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.H1134R Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 1172 Interaction with RPGR. response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GAAGAAATCCACTTTCACTTT 0.468000 5 20 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30336525 30336525 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:30336525G>A ENST00000375377.1 - 2 318 c.217C>T c.(217-219)Cgc>Tgc p.R73C NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 73 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 GGTGTGCTGCGGCGGCTTTCG 0.622000 27 30 0 0 1 0 0 DUS1L 64118 broad.mit.edu 37 17 80019221 80019221 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:80019221G>A ENST00000354321.7 - 7 1191 c.706C>T c.(706-708)Ctg>Ttg p.L236L DUS1L_ENST00000306796.5_Silent_p.L236L Q6P1R4 DUS1L_HUMAN dihydrouridine synthase 1-like (S. cerevisiae) 236 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 6 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GGGTTGTGCAGGTTGCCCTCT 0.667000 14 30 0 0 1 0 0 RNF149 284996 broad.mit.edu 37 2 101893733 101893733 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:101893733C>T ENST00000295317.3 - 7 1277 c.1170G>A c.(1168-1170)agG>agA p.R390R NM_173647.3 NP_775918.2 Q8NC42 RN149_HUMAN ring finger protein 149 390 integral to membrane ligase activity|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 GAGAGTCACTCCTGCCGGCTT 0.468000 40 14 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32818201 32818201 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr13:32818201G>C ENST00000380250.3 + 47 7206 c.6710G>C c.(6709-6711)aGt>aCt p.S2237T NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2237 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GGCCTCCCTAGTGTGCAGCAG 0.527000 6 71 0 0 1 0 0 TAF9 6880 broad.mit.edu 37 5 68660803 68660803 + Silent SNP G G A rs149295876 TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:68660803G>A ENST00000328663.4 - 3 1228 c.762C>T c.(760-762)gaC>gaT p.D254D TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_Silent_p.D254D|TAF9_ENST00000506736.1_Silent_p.D254D NM_001015892.1 NP_001015892.1 Q9Y3D8 KAD6_HUMAN TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa 58 Cajal body adenylate kinase activity|ATP binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 8 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) catcatcatcgtcatcatcat 0.318000 16 108 0 0 1 0 0 GPR20 2843 broad.mit.edu 37 8 142367850 142367850 + Silent SNP C C G rs143776711 byFrequency TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:142367850C>G ENST00000377741.3 - 2 264 c.174G>C c.(172-174)gcG>gcC p.A58A NM_005293.2 NP_005284.2 Q99678 GPR20_HUMAN G protein-coupled receptor 20 58 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) CTCCGTGCACCGCCATCAGCG 0.662000 5 67 0 0 1 0 0 HOMER3 9454 broad.mit.edu 37 19 19049288 19049288 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:19049288G>A ENST00000539827.1 - 3 829 c.177C>T c.(175-177)atC>atT p.I59I HOMER3_ENST00000594794.1_Intron|HOMER3_ENST00000221222.11_Silent_p.I59I|HOMER3_ENST00000392351.3_Silent_p.I59I|HOMER3_ENST00000542541.2_Silent_p.I59I|HOMER3_ENST00000355887.6_Silent_p.I59I|HOMER3_ENST00000433218.2_Silent_p.I59I|HOMER3_ENST00000594439.1_Silent_p.I59I Q9NSC5 HOME3_HUMAN homer homolog 3 (Drosophila) 59 WH1. metabotropic glutamate receptor signaling pathway|protein targeting cell junction|cytoplasm|postsynaptic density|postsynaptic membrane protein binding endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 10 Epithelial(12;0.0107) TGCTGTTGATGATGGCCTAGG 0.517000 32 87 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2153703 2153703 + Silent SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:2153703G>T ENST00000262304.4 - 23 8563 c.8355C>A c.(8353-8355)ggC>ggA p.G2785G PKD1_ENST00000561991.1_Intron|PKD1_ENST00000423118.1_Silent_p.G2785G NM_001009944.2 NP_001009944 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2785 REJ. G -> D (in ADPKD1). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CCGAGCGCTTGCCCTGGGCCA 0.701000 6 30 0.00198382 0.00200099 1 1 0 RPL36A 6173 broad.mit.edu 37 X 100646014 100646014 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chrX:100646014G>A ENST00000427805.2 + 1 203 c.91G>A c.(91-93)Gat>Aat p.D31N RPL36A-HNRNPH2_ENST00000409170.3_Silent_p.P5P|RPL36A_ENST00000553110.3_5'UTR NM_021029.5 NP_066357.2 ribosomal protein L36a liver(4)|lung(1)|prostate(1) 6 TTTCCGCGCCGATAGCGCTCA 0.562000 OREG0019892 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 34 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149152303 149152303 + Silent SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:149152303G>T ENST00000247930.4 - 2 1134 c.811C>A c.(811-813)Cgg>Agg p.R271R NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 271 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGGGGCAGCCGCAGGATCCAG 0.552000 17 151 6.49762e-13 6.9341e-13 1 1 0 BLZF1 8548 broad.mit.edu 37 1 169356364 169356364 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:169356364G>A ENST00000367808.3 + 7 1570 c.1147G>A c.(1147-1149)Gaa>Aaa p.E383K BLZF1_ENST00000329281.2_Missense_Mutation_p.E383K Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 383 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 14 all_hematologic(923;0.208) TACTAGATATGAAAATATAAC 0.383000 37 26 0 0 1 0 0 OR10T2 128360 broad.mit.edu 37 1 158368544 158368544 + Missense_Mutation SNP A A T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:158368544A>T ENST00000334438.1 - 1 712 c.713T>A c.(712-714)tTt>tAt p.F238Y NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) ACAGGTGACAAAGGCCTTCTT 0.478000 7 51 0 0 1 0 0 ATN1 1822 broad.mit.edu 37 12 7046142 7046142 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:7046142C>T ENST00000356654.4 + 5 1949 c.1712C>T c.(1711-1713)tCt>tTt p.S571F ATN1_ENST00000396684.2_Missense_Mutation_p.S571F NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 571 Poly-Ser. cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 GTCTCTTCCTCTTCCAACTCT 0.632000 13 79 0 0 1 0 0 FASTK 10922 broad.mit.edu 37 7 150776970 150776970 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:150776970G>C ENST00000540185.1 - 2 624 c.20C>G c.(19-21)tCt>tGt p.S7C FASTK_ENST00000489884.1_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.S41C|FASTK_ENST00000297532.6_Missense_Mutation_p.S41C|FASTK_ENST00000353841.2_Intron Q14296 FASTK_HUMAN Fas-activated serine/threonine kinase 41 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) GGTCTGAGCAGAGAGCAGGAC 0.607000 8 10 0 0 1 0 0 ZNF829 374899 broad.mit.edu 37 19 37382477 37382477 + Missense_Mutation SNP T T G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:37382477T>G ENST00000520965.1 - 6 1525 c.1459A>C c.(1459-1461)Aaa>Caa p.K487Q ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Missense_Mutation_p.K406Q|ZNF345_ENST00000526123.1_Intron NM_001171979.1 NP_001165450.1 Q3KNS6 ZN829_HUMAN zinc finger protein 829 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCATAGGGTTTCTCACCAGTG 0.398000 10 128 0 0 1 0 0 BSDC1 55108 broad.mit.edu 37 1 32852411 32852411 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:32852411G>A ENST00000341071.7 - 3 169 c.158C>T c.(157-159)gCc>gTc p.A53V BSDC1_ENST00000455895.2_Missense_Mutation_p.A53V|BSDC1_ENST00000449308.1_Missense_Mutation_p.A53V|BSDC1_ENST00000419121.2_Missense_Mutation_p.A53V|BSDC1_ENST00000413080.1_Missense_Mutation_p.A53V|BSDC1_ENST00000446293.2_Missense_Mutation_p.A53V|BSDC1_ENST00000526031.1_Intron Q9NW68 BSDC1_HUMAN BSD domain containing 1 53 protein binding breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GCTGGCCGTGGCTGCGATGGT 0.587000 7 12 0 0 1 0 0 OR14J1 442191 broad.mit.edu 37 6 29274845 29274845 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:29274845C>T ENST00000377160.2 + 1 443 c.379C>T c.(379-381)Cca>Tca p.P127S NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 AATCTGTCAACCACTTCATTA 0.493000 10 59 0 0 1 0 0 STRIP1 85369 broad.mit.edu 37 1 110586410 110586410 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:110586410C>T ENST00000369795.3 + 10 1240 c.1218C>T c.(1216-1218)ccC>ccT p.P406P STRIP1_ENST00000369796.1_Silent_p.P311P NM_033088.3 NP_149079.2 striatin interacting protein 1 TGATGCCTCCCCCGCTACAGC 0.567000 12 15 0 0 1 0 0 TRIM73 375593 broad.mit.edu 37 7 75028248 75028248 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:75028248G>A ENST00000323819.3 + 2 231 c.31G>A c.(31-33)Gag>Aag p.E11K TRIM73_ENST00000430211.1_Missense_Mutation_p.E11K|TRIM73_ENST00000447409.2_Missense_Mutation_p.E11K|TRIM73_ENST00000437796.1_Missense_Mutation_p.E11K|TRIM73_ENST00000463766.1_3'UTR|TRIM73_ENST00000450434.1_Intron NM_198924.2 NP_944606.2 Q86UV6 TRI74_HUMAN tripartite motif containing 73 11 intracellular zinc ion binding endometrium(1)|large_intestine(1)|lung(1)|pancreas(1) 4 GCTGGAGCTGGAGGACCGGCT 0.617000 24 90 0 0 1 0 0 CLCN7 1186 broad.mit.edu 37 16 1510899 1510899 + Silent SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:1510899C>A ENST00000382745.4 - 5 1007 c.402G>T c.(400-402)ggG>ggT p.G134G CLCN7_ENST00000448525.1_Silent_p.G110G|CLCN7_ENST00000262318.8_Silent_p.G110G NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 134 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) CCGTGAGGATCCCAATGAGGG 0.642000 16 14 0.00074312 0.000757203 1 1 0 DNAAF2 55172 broad.mit.edu 37 14 50092450 50092450 + Missense_Mutation SNP A A T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:50092450A>T ENST00000298292.8 - 3 2404 c.2324T>A c.(2323-2325)aTa>aAa p.I775K DNAAF2_ENST00000406043.3_Missense_Mutation_p.I727K NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 775 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 CTCTTCAGTTATTACTGACTC 0.328000 12 44 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229489 140229489 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:140229489C>T ENST00000378122.3 + 1 2133 c.1409C>T c.(1408-1410)cCg>cTg p.P470L PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.P470L|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACAACCCGCCGGGCTGCCAC 0.672000 10 83 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70840972 70840972 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:70840972G>T ENST00000358731.4 + 32 6933 c.6670G>T c.(6670-6672)Ggt>Tgt p.G2224C BDP1_ENST00000380675.2_Missense_Mutation_p.G360C NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2224 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TAGGGGTCTTGGTGAAAATTC 0.458000 32 38 1.08052e-11 1.14959e-11 1 1 0 SH3RF1 57630 broad.mit.edu 37 4 170190326 170190326 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:170190326G>C ENST00000284637.9 - 2 379 c.38C>G c.(37-39)cCg>cGg p.P13R NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 13 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) TAGACACACCGGACACTCCAA 0.433000 6 34 0 0 1 0 0 C5orf49 134121 broad.mit.edu 37 5 7835579 7835579 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:7835579A>G ENST00000399810.2 - 2 648 c.180T>C c.(178-180)ttT>ttC p.F60F C5orf49_ENST00000509627.1_Silent_p.F60F NM_001089584.2 NP_001083053.1 A4QMS7 CE049_HUMAN chromosome 5 open reading frame 49 60 large_intestine(3)|lung(5)|skin(1) 9 GGCGCCTCTTAAAAATACAAT 0.408000 26 48 0 0 1 0 0 ACPP 55 broad.mit.edu 37 3 132071660 132071660 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:132071660G>A ENST00000336375.5 + 9 1051 c.961G>A c.(961-963)Gag>Aag p.E321K ACPP_ENST00000351273.7_Missense_Mutation_p.E321K|ACPP_ENST00000475741.1_Missense_Mutation_p.E288K NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 321 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 ATTGTACTTTGAGAAGGGGTA 0.433000 13 49 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14650794 14650794 + Silent SNP T T G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:14650794T>G ENST00000544627.1 + 15 3944 c.3624T>G c.(3622-3624)gcT>gcG p.A1208A ATF7IP_ENST00000536444.1_Silent_p.A1199A|ATF7IP_ENST00000261168.4_Silent_p.A1200A|ATF7IP_ENST00000540793.1_Silent_p.A1200A Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 1200 Fibronectin type-III.|Interaction with MBD1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 ATCTCTATGCTTACCATGAGG 0.502000 9 42 0 0 1 0 0 POLA2 23649 broad.mit.edu 37 11 65048496 65048496 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:65048496G>A ENST00000265465.3 + 8 1309 c.778G>A c.(778-780)Gat>Aat p.D260N POLA2_ENST00000541089.1_Missense_Mutation_p.D52N NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 260 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) GATTGGCTGTGATAGCAACGG 0.493000 18 67 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207640067 207640067 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:207640067C>T ENST00000367057.3 + 2 444 c.255C>T c.(253-255)ttC>ttT p.F85F CR2_ENST00000458541.2_Silent_p.F85F|CR2_ENST00000367059.3_Silent_p.F85F|CR2_ENST00000367058.3_Silent_p.F85F NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 85 complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GTGAATATTTCAATAAATATT 0.408000 44 21 0 0 1 0 0 SARS2 54938 broad.mit.edu 37 19 39412269 39412269 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:39412269C>T ENST00000599996.1 - 8 639 c.640G>A c.(640-642)Gat>Aat p.D214N SARS2_ENST00000430193.3_Silent_p.E144E|SARS2_ENST00000448145.2_Silent_p.E144E|SARS2_ENST00000221431.6_Silent_p.E144E|SARS2_ENST00000594171.1_Intron|SARS2_ENST00000600042.1_Intron CCTTCCGGATCTCCCGGCCAC 0.657000 28 18 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150390175 150390175 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:150390175C>T ENST00000223293.5 + 3 895 c.801C>T c.(799-801)atC>atT p.I267I NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 267 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAGCCTTAATCAAAACACAAC 0.363000 29 24 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49637056 49637056 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:49637056G>A ENST00000334186.4 + 10 1514 c.1165G>A c.(1165-1167)Gag>Aag p.E389K PPFIA3_ENST00000602351.1_Missense_Mutation_p.E389K NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 389 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) CTCCTAGGCCGAGGAACGTCA 0.632000 5 26 0 0 1 0 0 ADAD1 132612 broad.mit.edu 37 4 123342519 123342519 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:123342519G>A ENST00000296513.2 + 12 1776 c.1591G>A c.(1591-1593)Gaa>Aaa p.E531K ADAD1_ENST00000388724.2_Missense_Mutation_p.E520K|ADAD1_ENST00000388725.2_Missense_Mutation_p.E513K NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 531 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 AGAATTACTTGAAGCTGGTAC 0.343000 13 32 0 0 1 0 0 ANKLE2 23141 broad.mit.edu 37 12 133306451 133306451 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:133306451C>T ENST00000539605.1 - 10 8795 c.2111G>A c.(2110-2112)aGa>aAa p.R704K ANKLE2_ENST00000542657.1_Missense_Mutation_p.R121K|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000357997.5_Missense_Mutation_p.R766K|ANKLE2_ENST00000542282.1_Missense_Mutation_p.R121K Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 766 cytoplasm|integral to membrane|nuclear envelope NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) TGCATTGATTCTTGAAGTCAG 0.428000 30 29 0 0 1 0 0 LRRC49 54839 broad.mit.edu 37 15 71341877 71341877 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:71341877G>A ENST00000260382.5 + 16 2247 c.1987G>A c.(1987-1989)Gat>Aat p.D663N LRRC49_ENST00000443425.2_Missense_Mutation_p.D619N|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.D653N|LRRC49_ENST00000560158.2_Missense_Mutation_p.D351N|LRRC49_ENST00000560691.1_Missense_Mutation_p.D369N|LRRC49_ENST00000560369.1_Missense_Mutation_p.D668N NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 663 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 GCTTGTTAGGGATGCAGTCAT 0.368000 45 43 0 0 1 0 0 ODF3L1 161753 broad.mit.edu 37 15 76019755 76019755 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:76019755A>G ENST00000332145.2 + 4 922 c.699A>G c.(697-699)ccA>ccG p.P233P NM_175881.3 NP_787077.1 Q8IXM7 OD3L1_HUMAN outer dense fiber of sperm tails 3-like 1 233 kidney(1)|lung(1) 2 ACCTCACGCCACGGCCTGGCC 0.627000 18 20 0 0 1 0 0 CCDC84 338657 broad.mit.edu 37 11 118869194 118869194 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:118869194G>A ENST00000334418.1 + 2 231 c.175G>A c.(175-177)Gaa>Aaa p.E59K NM_198489.1 NP_940891.1 Q86UT8 CCD84_HUMAN coiled-coil domain containing 84 59 breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) CTATGTGCCCGAACACGAGCG 0.672000 4 28 0 0 1 0 0 DMP1 1758 broad.mit.edu 37 4 88584465 88584465 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:88584465G>T ENST00000339673.6 + 6 1634 c.1535G>T c.(1534-1536)gGc>gTc p.G512V RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.G496V|RP11-742B18.1_ENST00000507894.1_RNA NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 512 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) TGCCAAGACGGCTATTAGCAT 0.393000 33 85 6.53348e-20 7.04769e-20 1 1 0 CYP17A1 1586 broad.mit.edu 37 10 104591349 104591349 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:104591349C>T ENST00000369887.3 - 7 1330 c.1159G>A c.(1159-1161)Gac>Aac p.D387N NM_000102.3 NP_000093.1 P05093 CP17A_HUMAN cytochrome P450, family 17, subfamily A, polypeptide 1 387 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) GTGCCCTTGTCCACAGCAAAC 0.542000 16 11 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58302886 58302886 + Missense_Mutation SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:58302886C>A ENST00000249750.4 - 4 1221 c.454G>T c.(454-456)Ggc>Tgc p.G152C ALDH1A2_ENST00000537372.1_Missense_Mutation_p.G131C|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.G152C|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.G123C|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.G56C NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 152 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TCAGCCCAGCCTGCGTAATAT 0.443000 36 38 2.2871e-25 2.47857e-25 1 1 0 PPFIA3 8541 broad.mit.edu 37 19 49636391 49636391 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:49636391C>T ENST00000334186.4 + 8 1362 c.1013C>T c.(1012-1014)tCg>tTg p.S338L PPFIA3_ENST00000602351.1_Missense_Mutation_p.S338L NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 338 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) AGCAAGGAGTCGTTGTATCGG 0.677000 7 24 0 0 1 0 0 ADRM1 11047 broad.mit.edu 37 20 60881304 60881304 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr20:60881304C>T ENST00000253003.2 + 4 428 c.382C>T c.(382-384)Ctg>Ttg p.L128L RP11-157P1.4_ENST00000414042.1_RNA|ADRM1_ENST00000462554.1_3'UTR NM_007002.2|NM_175573.1 NP_008933.2|NP_783163.1 Q16186 ADRM1_HUMAN adhesion regulating molecule 1 128 Interaction with PSMD1.|PH. proteasome assembly|transcription elongation from RNA polymerase II promoter cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex endopeptidase activator activity|protease binding|proteasome binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1) 5 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;2.51e-06) CAACGAGTATCTGAACAACCC 0.612000 15 46 0 0 1 0 0 SPERT 220082 broad.mit.edu 37 13 46287350 46287350 + Missense_Mutation SNP A A T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr13:46287350A>T ENST00000378966.3 + 2 498 c.82A>T c.(82-84)Aac>Tac p.N28Y SPERT_ENST00000310521.1_Missense_Mutation_p.N64Y Q8NA61 SPERT_HUMAN spermatid associated 64 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) GAGGCTCCACAACTTGTACAG 0.642000 3 15 0 0 1 0 0 SLC35G2 80723 broad.mit.edu 37 3 136573341 136573341 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:136573341A>G ENST00000446465.2 + 2 667 c.39A>G c.(37-39)aaA>aaG p.K13K RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.K13K NM_025246.2 NP_079522.2 Q8TBE7 TMM22_HUMAN solute carrier family 35, member G2 13 Golgi apparatus|integral to membrane CAGTTAAAAAACGGGTGAAAA 0.338000 35 103 0 0 1 0 0 ZC3H14 79882 broad.mit.edu 37 14 89029486 89029486 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:89029486C>T ENST00000251038.5 + 1 234 c.9C>T c.(7-9)atC>atT p.I3I ZC3H14_ENST00000555755.1_Silent_p.I3I|ZC3H14_ENST00000359301.3_5'UTR|ZC3H14_ENST00000393514.5_Silent_p.I3I|ZC3H14_ENST00000302216.8_Silent_p.I3I|ZC3H14_ENST00000556945.1_Silent_p.I3I|ZC3H14_ENST00000557607.1_5'UTR NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 3 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 CCATGGAGATCGGCACCGAGA 0.706000 6 3 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179641728 179641728 + Silent SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:179641728G>T ENST00000589042.1 - 28 5087 c.4863C>A c.(4861-4863)gtC>gtA p.V1621V TTN_ENST00000460472.2_Silent_p.V1575V|TTN_ENST00000342992.6_Silent_p.V1621V|TTN_ENST00000359218.5_Silent_p.V1575V|TTN_ENST00000342175.6_Silent_p.V1575V|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Silent_p.V1621V|TTN_ENST00000591111.1_Silent_p.V1621V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1355 Ig-like 7. 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) AATCTTGGCTGACAGTGGAAT 0.428000 28 61 7.07758e-08 7.41713e-08 1 1 0 USP4 7375 broad.mit.edu 37 3 49338025 49338025 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:49338025C>T ENST00000351842.4 - 10 1254 c.1246G>A c.(1246-1248)Gaa>Aaa p.E416K USP4_ENST00000265560.4_Missense_Mutation_p.E463K NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 463 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) TTAGCACATTCTGGGCAAACC 0.468000 9 98 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46243484 46243484 + Nonsense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:46243484C>T ENST00000334344.6 + 14 2009 c.1837C>T c.(1837-1839)Cag>Tag p.Q613* ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q464*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q223* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 613 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GATGTACTATCAGCAGCAACC 0.423000 """N, S, F""" hepatocellular carcinoma 46 79 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204228723 204228723 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:204228723C>T ENST00000272203.3 - 8 986 c.670G>A c.(670-672)Gag>Aag p.E224K PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E244K NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 224 Pro-rich. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TCTGGCCTCTCAGGCCTTCTC 0.652000 22 36 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172501640 172501640 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:172501640C>T ENST00000367723.4 + 1 152 c.28C>T c.(28-30)Cta>Tta p.L10L SUCO_ENST00000608151.1_Silent_p.L10L NM_016227.2 NP_057311.3 SUN domain containing ossification factor ACGCCCCTTTCTATCTACCAA 0.502000 8 15 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10265426 10265426 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:10265426G>A ENST00000340748.4 - 20 1855 c.1620C>T c.(1618-1620)ctC>ctT p.L540L DNMT1_ENST00000359526.4_Silent_p.L556L|DNMT1_ENST00000540357.1_Silent_p.L540L P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 540 DNA replication foci-targeting sequence (By similarity).|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GGTTCAAGTTGAGGCCAGAAG 0.537000 35 29 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96777505 96777505 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:96777505C>T ENST00000359933.4 - 28 5003 c.4110G>A c.(4108-4110)caG>caA p.Q1370Q ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506 Q96BY7 ATG2B_HUMAN autophagy related 2B 1370 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGTTAGGTGTCTGCAAGTCAC 0.463000 19 61 0 0 1 0 0 CLEC17A 388512 broad.mit.edu 37 19 14706107 14706107 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:14706107C>T ENST00000547437.1 + 8 502 c.425C>T c.(424-426)cCa>cTa p.P142L CLEC17A_ENST00000397439.2_Missense_Mutation_p.P125L|CLEC17A_ENST00000417570.1_Missense_Mutation_p.P142L NM_207390.3 NP_997273.3 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A 142 cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity GAGCCTTCTCCATTGCAGCCA 0.493000 83 117 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101586178 101586178 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:101586178T>C ENST00000311812.2 - 14 1388 c.1238A>G c.(1237-1239)tAt>tGt p.Y413C SNX31_ENST00000428383.2_Missense_Mutation_p.Y314C NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 413 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) AAAACTAGAATAGTCTTTCTG 0.328000 62 60 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56822693 56822693 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:56822693G>A ENST00000229201.4 - 11 1429 c.1275C>T c.(1273-1275)cgC>cgT p.R425R TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Silent_p.R426R NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 426 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 CAGCTTCCTTGCGGTCAGTCA 0.537000 18 21 0 0 1 0 0 REXO4 57109 broad.mit.edu 37 9 136282824 136282824 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:136282824C>T ENST00000371942.3 - 1 340 c.141G>A c.(139-141)aaG>aaA p.K47K REXO4_ENST00000371935.2_Silent_p.K47K|REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron NM_020385.2 NP_065118.2 Q9GZR2 REXO4_HUMAN REX4, RNA exonuclease 4 homolog (S. cerevisiae) 47 nucleolus exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05) TTGCTGGCTTCTTGCTTACTT 0.557000 54 158 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19491662 19491662 + Nonsense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:19491662G>A ENST00000328405.2 + 9 1706 c.1440G>A c.(1438-1440)tgG>tgA p.W480* KCNH8_ENST00000537696.1_Nonsense_Mutation_p.W149* NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 480 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 ACTCCAGATGGTCCCTCTATC 0.423000 24 61 0 0 1 0 0 ZNF507 22847 broad.mit.edu 37 19 32845770 32845770 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:32845770G>A ENST00000311921.4 + 2 2226 c.2034G>A c.(2032-2034)gcG>gcA p.A678A ZNF507_ENST00000355898.5_Silent_p.A678A|ZNF507_ENST00000544431.1_Silent_p.A678A NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) AGCACATAGCGGACAACAGCA 0.458000 8 64 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83352851 83352851 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chrX:83352851A>G ENST00000262752.2 - 19 1789 c.1782T>C c.(1780-1782)ctT>ctC p.L594L RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Silent_p.L594L NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 594 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 CCTGTTGCATAAGAACCTAAG 0.323000 66 31 0 0 1 0 0 PDRG1 81572 broad.mit.edu 37 20 30538146 30538146 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr20:30538146C>T ENST00000202017.4 - 2 262 c.132G>A c.(130-132)ctG>ctA p.L44L NM_030815.2 NP_110442.1 Q9NUG6 PDRG1_HUMAN p53 and DNA-damage regulated 1 44 protein folding prefoldin complex unfolded protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1) 8 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GCAGGGCCCTCAGGCCCTCTC 0.512000 38 45 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112033959 112033959 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chrX:112033959G>C ENST00000371959.3 - 7 1977 c.1978C>G c.(1978-1980)Ctg>Gtg p.L660V AMOT_ENST00000371962.1_Missense_Mutation_p.L428V|AMOT_ENST00000304758.1_Missense_Mutation_p.L251V|AMOT_ENST00000371958.1_Missense_Mutation_p.L428V|AMOT_ENST00000524145.1_Missense_Mutation_p.L660V NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 660 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 AGCTCCATCAGTGCAGCAGCA 0.493000 15 40 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128657245 128657245 + Nonsense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chrX:128657245G>A ENST00000371122.4 - 1 232 c.103C>T c.(103-105)Cag>Tag p.Q35* SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Q35*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Q35* NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 35 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding p.Q35E(1) biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 CCCTCCTCCTGAGAGGTGGAC 0.677000 49 26 0 0 1 0 0 C7orf26 79034 broad.mit.edu 37 7 6634089 6634089 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:6634089G>A ENST00000344417.5 + 3 705 c.438G>A c.(436-438)gtG>gtA p.V146V C7orf26_ENST00000359073.5_Silent_p.V127V|C7orf26_ENST00000472693.1_3'UTR NM_024067.2 NP_076972.2 Q96N11 CG026_HUMAN chromosome 7 open reading frame 26 146 endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 11 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986) TTTACTGTGTGAGGTTAGCCA 0.527000 33 101 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3087634 3087634 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:3087634C>T ENST00000520002.1 - 28 4831 c.4276G>A c.(4276-4278)Gga>Aga p.G1426R CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1425R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1425R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1426R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1426R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1425R|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1426R Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1426 Sushi 8. 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) TTGGCTTGTCCTTGGAGCTGA 0.493000 13 26 0 0 1 0 0 SWI5 375757 broad.mit.edu 37 9 131038983 131038983 + Silent SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:131038983T>C ENST00000419867.2 + 2 279 c.180T>C c.(178-180)tcT>tcC p.S60S SWI5_ENST00000495313.1_Intron|SWI5_ENST00000608796.1_Silent_p.S60S|SWI5_ENST00000320188.5_Silent_p.S125S|SWI5_ENST00000418976.1_Intron Q1ZZU3 SWI5_HUMAN SWI5 recombination repair homolog (yeast) double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding GATTCCTCTCTAGGACTGAAC 0.597000 56 76 0 0 1 0 0 HDAC7 51564 broad.mit.edu 37 12 48179546 48179546 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:48179546G>A ENST00000080059.7 - 23 2694 c.2695C>T c.(2695-2697)Ctg>Ttg p.L899L HDAC7_ENST00000552960.1_Silent_p.L882L|HDAC7_ENST00000427332.2_Silent_p.L860L|AC004466.1_ENST00000599515.1_3'UTR|HDAC7_ENST00000354334.3_Silent_p.L862L|HDAC7_ENST00000380610.4_Silent_p.L916L NM_015401.3 NP_056216.2 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 860 Interaction with SIN3A (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) CTGTTACCCAGAAGAGCAGCC 0.622000 4 8 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64681298 64681298 + Silent SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:64681298C>A ENST00000421419.2 - 4 699 c.585G>T c.(583-585)gtG>gtT p.V195V ATG2A_ENST00000377264.3_Silent_p.V195V Q2TAZ0 ATG2A_HUMAN autophagy related 2A 195 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 CTTACCTCTGCACACGGACCT 0.632000 15 26 1.37285e-15 1.47182e-15 1 1 0 CMIP 80790 broad.mit.edu 37 16 81739110 81739110 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:81739110G>A ENST00000537098.3 + 19 2170 c.2098G>A c.(2098-2100)Gac>Aac p.D700N CMIP_ENST00000398040.4_Missense_Mutation_p.D547N|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.D606N NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 666 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 ACAGTTTGGAGACGCTGGCCT 0.632000 5 4 0 0 1 0 0 PKN2 5586 broad.mit.edu 37 1 89237142 89237142 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:89237142G>A ENST00000370521.3 + 5 1020 c.661G>A c.(661-663)Gaa>Aaa p.E221K PKN2_ENST00000316005.7_Missense_Mutation_p.E221K|PKN2_ENST00000370513.5_Missense_Mutation_p.E221K|PKN2_ENST00000370505.3_Missense_Mutation_p.E64K NM_006256.2 NP_006247.1 Q16513 PKN2_HUMAN protein kinase N2 221 signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1) 33 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) TCGGATGGAAGAATTAAGGCA 0.348000 9 43 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104742503 104742503 + Silent SNP T T G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:104742503T>G ENST00000334877.4 + 17 2592 c.2058T>G c.(2056-2058)gtT>gtG p.V686V KMT2E_ENST00000257745.4_Silent_p.V686V|KMT2E_ENST00000311117.3_Silent_p.V686V|KMT2E_ENST00000334914.7_5'UTR lysine (K)-specific methyltransferase 2E ATATAGAAGTTACTTCACAAC 0.398000 40 60 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201777667 201777667 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:201777667G>T ENST00000367296.4 + 19 4387 c.3967G>T c.(3967-3969)Gac>Tac p.D1323Y NAV1_ENST00000295624.6_Missense_Mutation_p.D1320Y|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.D929Y|NAV1_ENST00000367297.4_Missense_Mutation_p.D1315Y|NAV1_ENST00000367302.1_Missense_Mutation_p.D1276Y|NAV1_ENST00000367300.3_Missense_Mutation_p.D1263Y NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1323 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 GAAGCTTACAGACATCCGCTT 0.557000 6 17 2.0095e-06 2.09024e-06 1 1 0 TOR3A 64222 broad.mit.edu 37 1 179051498 179051498 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:179051498G>A ENST00000367627.3 + 1 987 c.235G>A c.(235-237)Gag>Aag p.E79K TOR3A_ENST00000352445.6_Missense_Mutation_p.E79K NM_022371.3 NP_071766.2 Q9H497 TOR3A_HUMAN torsin family 3, member A 79 chaperone mediated protein folding requiring cofactor endoplasmic reticulum ATP binding endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1) 13 TGACGAGGACGAGGAGGCAGC 0.716000 7 6 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134143530 134143530 + Missense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:134143530C>G ENST00000452510.2 + 16 2205 c.2047C>G c.(2047-2049)Cta>Gta p.L683V DDX46_ENST00000354283.4_Missense_Mutation_p.L683V NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 683 Helicase C-terminal. mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGCCCGAGGTCTAGATGTGAA 0.433000 23 45 0 0 1 0 0 ARHGEF9 23229 broad.mit.edu 37 X 62885822 62885822 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chrX:62885822G>A ENST00000253401.6 - 7 1800 c.1000C>T c.(1000-1002)Cgc>Tgc p.R334C ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R313C|ARHGEF9_ENST00000433323.2_Intron|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R232C|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.R332C|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R281C|ARHGEF9_ENST00000495564.1_Intron NM_015185.2 NP_056000.1 O43307 ARHG9_HUMAN Cdc42 guanine nucleotide exchange factor (GEF) 9 334 PH. apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1) 35 TGCTGGTTGCGGCCGTAGGGC 0.572000 20 8 0 0 1 0 0 ZNF286B 729288 broad.mit.edu 37 17 18565279 18565279 + Nonsense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:18565279G>A ENST00000545289.1 - 5 1790 c.1540C>T c.(1540-1542)Caa>Taa p.Q514* ZNF286B_ENST00000285274.5_3'UTR NM_001145045.1 NP_001138517.1 P0CG31 Z286B_HUMAN zinc finger protein 286B 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(1) 2 TGAACTCTTTGATGTCTGATG 0.363000 11 63 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47887522 47887522 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr20:47887522G>A ENST00000396105.1 - 3 1073 c.827C>T c.(826-828)tCt>tTt p.S276F ZNFX1_ENST00000371754.4_Missense_Mutation_p.S276F|ZNFX1_ENST00000371752.1_Missense_Mutation_p.S276F NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 276 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AGCATTAAGAGAGGTTGGCAG 0.488000 4 26 0 0 1 0 0 PPP2R5A 5525 broad.mit.edu 37 1 212533999 212533999 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:212533999G>A ENST00000261461.2 + 13 1922 c.1348G>A c.(1348-1350)Gaa>Aaa p.E450K PPP2R5A_ENST00000537030.3_Missense_Mutation_p.E393K NM_006243.3 NP_006234.1 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B', alpha 450 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) GAAGGAATTGGAACGTGAAGA 0.343000 41 26 0 0 1 0 0 TMEM64 169200 broad.mit.edu 37 8 91657402 91657402 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:91657402C>T ENST00000458549.2 - 1 909 c.732G>A c.(730-732)ctG>ctA p.L244L TMEM64_ENST00000519519.1_Intron|TMEM64_ENST00000418210.2_Silent_p.L244L NM_001008495.3 NP_001008495.2 Q6YI46 TMM64_HUMAN transmembrane protein 64 244 integral to membrane endometrium(1)|large_intestine(1) 2 BRCA - Breast invasive adenocarcinoma(11;0.0598) CCACCACTTTCAGGCCGCTTC 0.612000 OREG0018858 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 36 0 0 1 0 0 ADAT1 23536 broad.mit.edu 37 16 75646444 75646444 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:75646444G>T ENST00000307921.3 - 7 885 c.740C>A c.(739-741)gCc>gAc p.A247D NM_012091.3 NP_036223.2 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 247 A to I editase. tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1) 19 ACTACCAGGGGCTATTCTGGT 0.527000 21 59 7.41877e-09 7.79808e-09 1 1 0 MTR 4548 broad.mit.edu 37 1 236979841 236979841 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:236979841C>T ENST00000366577.5 + 8 1156 c.762C>T c.(760-762)ctC>ctT p.L254L MTR_ENST00000535889.1_Silent_p.L254L|MTR_ENST00000418145.2_3'UTR NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 254 Hcy-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GAGAACCACTCTGGTGAGTGA 0.463000 57 27 0 0 1 0 0 SPTSSA 171546 broad.mit.edu 37 14 34904426 34904426 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:34904426T>C ENST00000298130.4 - 2 345 c.197A>G c.(196-198)tAc>tGc p.Y66C NM_138288.3 NP_612145.2 Q969W0 SSPTA_HUMAN serine palmitoyltransferase, small subunit A 66 sphingolipid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex protein binding GATTTCAAAGTAGTGCAATAT 0.468000 5 17 0 0 1 0 0 ABHD15 116236 broad.mit.edu 37 17 27893210 27893210 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:27893210C>T ENST00000307201.4 - 1 945 c.775G>A c.(775-777)Gcc>Acc p.A259T RP11-68I3.2_ENST00000581474.1_RNA NM_198147.2 NP_937790.2 Q6UXT9 ABH15_HUMAN abhydrolase domain containing 15 259 extracellular region carboxylesterase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 10 ATGCAGGCGGCGCCTGTCACG 0.711000 11 18 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129845660 129845660 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:129845660C>T ENST00000254667.3 + 4 395 c.116C>T c.(115-117)cCg>cTg p.P39L PTPRE_ENST00000471218.1_Missense_Mutation_p.P39L|PTPRE_ENST00000419012.2_Missense_Mutation_p.P39L|PTPRE_ENST00000430713.2_Missense_Mutation_p.P39L NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 39 negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) GCAGGCCCTCCGGACCCGGGC 0.612000 8 10 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167551961 167551961 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:167551961G>A ENST00000519204.1 + 10 1870 c.1752G>A c.(1750-1752)caG>caA p.Q584Q TENM2_ENST00000545108.1_Silent_p.Q705Q|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000518659.1_Silent_p.Q705Q|TENM2_ENST00000403607.2_Silent_p.Q538Q|TENM2_ENST00000520394.1_Silent_p.Q473Q teneurin transmembrane protein 2 CGAGGGTCCAGTGCCCAGACC 0.627000 33 7 0 0 1 0 0 THRB 7068 broad.mit.edu 37 3 24206576 24206576 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:24206576G>A ENST00000280696.5 - 1 510 c.270C>T c.(268-270)ttC>ttT p.F90F THRB_ENST00000416420.1_Intron|THRB_ENST00000356447.4_Intron|THRB_ENST00000396671.2_Intron P10828 THB_HUMAN thyroid hormone receptor, beta 0 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) TTTCTTCAGTGAAATATTCAG 0.388000 8 52 0 0 1 0 0 APOBR 55911 broad.mit.edu 37 16 28508827 28508827 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:28508827G>A ENST00000564831.1 + 2 2498 c.2465G>A c.(2464-2466)aGa>aAa p.R822K APOBR_ENST00000431282.1_Missense_Mutation_p.R813K|APOBR_ENST00000328423.5_Missense_Mutation_p.R813K NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 813 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 GTGACTGGCAGAGGCAGCCAA 0.607000 8 22 0 0 1 0 0 C11orf63 79864 broad.mit.edu 37 11 122830047 122830047 + Missense_Mutation SNP G G T rs148898121 TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:122830047G>T ENST00000227349.2 + 9 2528 c.2231G>T c.(2230-2232)gGg>gTg p.G744V C11orf63_ENST00000531316.1_Missense_Mutation_p.G744V NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 744 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) ACCTATGCTGGGAAAGAAGAA 0.428000 17 68 9.7654e-05 0.000100383 1 1 0 MET 4233 broad.mit.edu 37 7 116436059 116436059 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr7:116436059G>T ENST00000397752.3 + 21 4254 c.4054G>T c.(4054-4056)Gtg>Ttg p.V1352L MET_ENST00000318493.6_Missense_Mutation_p.V1370L|MET_ENST00000539704.1_Missense_Mutation_p.V222L NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 1352 Interaction with MUC20.|Interaction with RANBP9. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CTATGTCCATGTGAACGCTAC 0.488000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 52 85 6.27289e-28 6.81921e-28 1 1 0 STX4 6810 broad.mit.edu 37 16 31045531 31045531 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:31045531C>T ENST00000394998.1 + 4 454 c.111C>T c.(109-111)ctC>ctT p.L37L STX4_ENST00000493902.1_Intron|STX4_ENST00000313843.3_Intron NM_001272096.1 NP_001259025.1 Q12846 STX4_HUMAN syntaxin 4 34 intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole SNAP receptor activity NS(2)|breast(1)|large_intestine(3)|lung(3) 9 TCAGCCCTCTCGGTCACCCTC 0.582000 25 134 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135494524 135494524 + Splice_Site SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chrX:135494524T>C ENST00000394143.1 + 24 9327 c.9036T>C c.(9034-9036)tcT>tcC p.S3012S GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Splice_Site_p.S2807S|GPR112_ENST00000370652.1_Splice_Site_p.S3012S|GPR112_ENST00000412101.1_Splice_Site_p.S2807S NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 3012 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ATAACTCTTCTGGTAAGATGT 0.398000 11 8 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106763087 106763087 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:106763087G>A ENST00000228347.4 + 5 484 c.262G>A c.(262-264)Gaa>Aaa p.E88K POLR3B_ENST00000539066.1_Missense_Mutation_p.E30K NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 88 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TCCTGATGTTGAAGAAAGCTT 0.353000 32 164 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91739100 91739100 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:91739100G>A ENST00000389857.6 - 30 6042 c.5956C>T c.(5956-5958)Ccc>Tcc p.P1986S CCDC88C_ENST00000331194.7_Missense_Mutation_p.P510S NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1986 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) GCCAAATCGGGAGACCGACCT 0.716000 6 22 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 85984947 85984947 + Missense_Mutation SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:85984947C>A ENST00000383699.3 + 7 1358 c.731C>A c.(730-732)aCt>aAt p.T244N CADM2_ENST00000405615.2_Missense_Mutation_p.T237N|CADM2_ENST00000407528.2_Missense_Mutation_p.T235N NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 235 Ig-like C2-type 2. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) ATACCATCGACTCCTTTTCCA 0.299000 20 151 3.62473e-10 3.82732e-10 1 1 0 NEK8 284086 broad.mit.edu 37 17 27062381 27062381 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:27062381G>A ENST00000268766.6 + 4 644 c.610G>A c.(610-612)Gag>Aag p.E204K AC010761.6_ENST00000584779.1_RNA NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 204 Protein kinase. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) GAGGGCTTTCGAGGCTGCGGT 0.602000 4 10 0 0 1 0 0 NOD2 64127 broad.mit.edu 37 16 50745865 50745865 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:50745865G>A ENST00000300589.2 + 4 2148 c.2043G>A c.(2041-2043)ctG>ctA p.L681L NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 681 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) TGGCAGGGCTGTTGTCCCGGG 0.672000 10 19 0 0 1 0 0 NTS 4922 broad.mit.edu 37 12 86268211 86268211 + Silent SNP A A G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:86268211A>G ENST00000256010.6 + 1 137 c.30A>G c.(28-30)gtA>gtG p.V10V NTS_ENST00000551529.1_Silent_p.V10V NM_006183.4 NP_006174.1 P30990 NEUT_HUMAN neurotensin 10 regulation of blood vessel size|signal transduction extracellular region|soluble fraction|transport vesicle neuropeptide hormone activity large_intestine(2)|lung(6) 8 TCCAGCTTGTATGCATGCTAC 0.453000 44 45 0 0 1 0 0 BANK1 55024 broad.mit.edu 37 4 102751143 102751143 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:102751143G>A ENST00000504592.1 + 6 622 c.204G>A c.(202-204)ttG>ttA p.L68L BANK1_ENST00000428908.1_Intron|BANK1_ENST00000322953.4_Silent_p.L83L|BANK1_ENST00000444316.2_Silent_p.L53L|BANK1_ENST00000508653.1_Intron Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 83 Interaction with ITPR2. B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) GTAAACTTTTGATATTATCAA 0.358000 42 50 0 0 1 0 0 MRS2 57380 broad.mit.edu 37 6 24423839 24423839 + Missense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:24423839C>G ENST00000378386.3 + 11 1342 c.1249C>G c.(1249-1251)Ctg>Gtg p.L417V MRS2_ENST00000535061.1_Missense_Mutation_p.L367V|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000443868.2_Missense_Mutation_p.L420V|MRS2_ENST00000543597.1_Missense_Mutation_p.L126V NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2 magnesium transporter 417 ion transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 AAAGACTCTTCTGGCAGATAG 0.363000 3 54 0 0 1 0 0 KCNN2 3781 broad.mit.edu 37 5 113740235 113740235 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:113740235C>T ENST00000512097.3 + 4 1701 c.683C>T c.(682-684)cCc>cTc p.P228L KCNN2_ENST00000264773.3_Missense_Mutation_p.P228L|KCNN2_ENST00000507750.1_Intron Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 228 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) GCTATTCATCCCATACCTGGG 0.448000 16 115 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158834168 158834168 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:158834168G>A ENST00000367097.3 + 2 1681 c.324G>A c.(322-324)gtG>gtA p.V108V TULP4_ENST00000367094.2_Silent_p.V108V NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 108 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GCATATTCGTGTGGATTCAGT 0.592000 8 24 0 0 1 0 0 KRCC1 51315 broad.mit.edu 37 2 88327491 88327491 + Missense_Mutation SNP T T G rs139392416 byFrequency TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:88327491T>G ENST00000347055.3 - 4 985 c.592A>C c.(592-594)Aag>Cag p.K198Q NM_016618.1 NP_057702.1 Q9NPI7 KRCC1_HUMAN lysine-rich coiled-coil 1 198 Lys-rich. cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 7 TCTGTTTTCTTTCTTTGGATG 0.398000 17 193 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100234693 100234693 + Nonsense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:100234693C>G ENST00000355295.4 + 10 2155 c.1860C>G c.(1858-1860)taC>taG p.Y620* TDRD7_ENST00000422139.2_Nonsense_Mutation_p.Y546*|TDRD7_ENST00000540902.1_5'UTR NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 620 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) TTGTTCTGTACGATACCTCAG 0.423000 41 68 0 0 1 0 0 OR5D16 390144 broad.mit.edu 37 11 55607106 55607106 + Missense_Mutation SNP T T A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:55607106T>A ENST00000378396.1 + 1 879 c.879T>A c.(877-879)agT>agA p.S293R NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) TGATCTACAGTCTGAGAAATA 0.368000 5 24 0 0 1 0 0 PRSS36 146547 broad.mit.edu 37 16 31154747 31154747 + Missense_Mutation SNP T T A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:31154747T>A ENST00000268281.4 - 8 1074 c.1016A>T c.(1015-1017)cAg>cTg p.Q339L PRSS36_ENST00000569305.1_Missense_Mutation_p.Q339L|PRSS36_ENST00000418068.2_Missense_Mutation_p.Q339L NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 339 Peptidase S1 2. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 CACCATCACCTGGGCCTCCCA 0.652000 8 50 0 0 1 0 0 ZNF44 51710 broad.mit.edu 37 19 12386873 12386873 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:12386873C>T ENST00000356109.5 - 3 290 c.172G>A c.(172-174)Gct>Act p.A58T ZNF44_ENST00000355684.5_Missense_Mutation_p.A10T NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 58 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) AAGTTCACAGCCACATCCTCA 0.453000 78 128 0 0 1 0 0 E2F6 1876 broad.mit.edu 37 2 11593846 11593846 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:11593846G>T ENST00000381525.3 - 3 511 c.242C>A c.(241-243)tCt>tAt p.S81Y E2F6_ENST00000542100.1_Missense_Mutation_p.S6Y|E2F6_ENST00000546212.1_Missense_Mutation_p.S6Y|E2F6_ENST00000307236.4_Missense_Mutation_p.S49Y|E2F6_ENST00000362009.4_Missense_Mutation_p.S81Y NM_198256.2 NP_937987.2 O75461 E2F6_HUMAN E2F transcription factor 6 81 negative regulation of transcription from RNA polymerase II promoter MLL1 complex|transcription factor complex DNA binding|transcription corepressor activity cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168) CCCGGGAGCAGATCTGACAAG 0.408000 38 87 9.62906e-15 1.03074e-14 1 1 0 COL20A1 57642 broad.mit.edu 37 20 61941827 61941827 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr20:61941827G>T ENST00000422202.1 + 10 1447 c.1379G>T c.(1378-1380)gGg>gTg p.G460V COL20A1_ENST00000358894.6_Missense_Mutation_p.G453V|COL20A1_ENST00000326996.6_Missense_Mutation_p.G453V|COL20A1_ENST00000435874.1_Missense_Mutation_p.G460V Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 453 Fibronectin type-III 2. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) TATGAGGGCGGGGTTGGCGAA 0.682000 3 7 0.115264 0.115429 1 1 0 PLCH2 9651 broad.mit.edu 37 1 2411398 2411398 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:2411398G>A ENST00000449969.1 + 3 577 c.416G>A c.(415-417)cGc>cAc p.R139H PLCH2_ENST00000419816.2_Missense_Mutation_p.R166H|PLCH2_ENST00000378486.3_Missense_Mutation_p.R166H|PLCH2_ENST00000378488.3_Missense_Mutation_p.R166H|PLCH2_ENST00000288766.5_Intron O75038 PLCH2_HUMAN phospholipase C, eta 2 166 Necessary for plasma membrane localization (By similarity).|PH. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CTGGCTCGCCGCCAGCGCACC 0.687000 7 46 0 0 1 0 0 WDR36 134430 broad.mit.edu 37 5 110461420 110461420 + Missense_Mutation SNP A A C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:110461420A>C ENST00000506538.2 + 22 3206 c.2633A>C c.(2632-2634)aAa>aCa p.K878T WDR36_ENST00000513710.2_Missense_Mutation_p.K878T NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 878 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) AGCTTCTTGAAAATGATTGGG 0.438000 20 70 0 0 1 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179820468 179820468 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:179820468G>A ENST00000367612.3 - 4 452 c.65C>T c.(64-66)tCa>tTa p.S22L TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.S22L NM_145034.4 NP_659471.1 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 22 endoplasmic reticulum membrane|integral to membrane protein binding p.S22L(1) cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 AGAATTTACTGATGGATCATT 0.368000 15 30 0 0 1 0 0 COX6C 1345 broad.mit.edu 37 8 100904183 100904183 + Missense_Mutation SNP T T A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:100904183T>A ENST00000520468.2 - 2 521 c.67A>T c.(67-69)Atg>Ttg p.M23L COX6C_ENST00000297564.2_Missense_Mutation_p.M23L|COX6C_ENST00000517682.2_Missense_Mutation_p.M23L|COX6C_ENST00000522940.1_Missense_Mutation_p.M23L|COX6C_ENST00000520271.1_Missense_Mutation_p.M23L|COX6C_ENST00000523016.1_Missense_Mutation_p.M23L|COX6C_ENST00000524245.1_Missense_Mutation_p.M23L|COX6C_ENST00000518171.1_Missense_Mutation_p.M23L NM_004374.3 NP_004365.1 P09669 COX6C_HUMAN cytochrome c oxidase subunit VIc 23 respiratory electron transport chain integral to membrane|mitochondrial inner membrane cytochrome-c oxidase activity p.M23V(1) HMGA2/COX6C(2) liver(1)|lung(2) 3 all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) GCTACAGCCATATGATTTCGC 0.458000 T HMGA2 uterine leiomyoma 131 175 0 0 1 0 0 CD81 975 broad.mit.edu 37 11 2411732 2411732 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:2411732C>T ENST00000263645.5 + 2 413 c.157C>T c.(157-159)Ccc>Tcc p.P53S CD81_ENST00000492627.1_5'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.P91S|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000526072.1_5'UTR NM_004356.3 NP_004347.1 P60033 CD81_HUMAN CD81 molecule 53 activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor integral to plasma membrane protein binding endometrium(1)|lung(3)|skin(1) 5 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191) GGGAGACAAGCCCGCGCCCAA 0.617000 9 41 0 0 1 0 0 LHX3 8022 broad.mit.edu 37 9 139090785 139090785 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:139090785G>A ENST00000371746.3 - 4 708 c.590C>T c.(589-591)tCc>tTc p.S197F LHX3_ENST00000371748.5_Missense_Mutation_p.S192F NM_014564.3 NP_055379.1 Q9UBR4 LHX3_HUMAN LIM homeobox 3 192 inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S197Y(1) large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) GCCCGTCTCGGACGAGAGCTG 0.741000 6 12 0 0 1 0 0 SMC6 79677 broad.mit.edu 37 2 17847757 17847757 + Missense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:17847757C>G ENST00000448223.2 - 27 3360 c.3091G>C c.(3091-3093)Gac>Cac p.D1031H SMC6_ENST00000402989.1_Missense_Mutation_p.D1031H|SMC6_ENST00000351948.4_Missense_Mutation_p.D1031H|SMC6_ENST00000381272.4_Missense_Mutation_p.D1057H NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 1031 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AGTATCAAGTCCATGGCAATT 0.373000 3 45 0 0 1 0 0 RUVBL1 8607 broad.mit.edu 37 3 127831784 127831784 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:127831784G>A ENST00000464873.1 - 3 878 c.128C>T c.(127-129)tCa>tTa p.S43L RUVBL1_ENST00000417360.1_Missense_Mutation_p.S103L|RUVBL1_ENST00000322623.5_Missense_Mutation_p.S103L Q9Y265 RUVB1_HUMAN RuvB-like AAA ATPase 1 103 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GBM - Glioblastoma multiforme(114;0.181) GATCTCAGTTGAGTAAACTTC 0.502000 18 38 0 0 1 0 0 FOXL2 668 broad.mit.edu 37 3 138665091 138665091 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:138665091C>T ENST00000330315.3 - 1 891 c.474G>A c.(472-474)gcG>gcA p.A158A NM_023067.3 NP_075555.1 P58012 FOXL2_HUMAN forkhead box L2 158 convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter 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 activator activity|transcription factor binding|ubiquitin conjugating enzyme binding large_intestine(1)|lung(1)|ovary(333)|skin(1) 336 GCTGGAAGTGCGCGGGCGGCG 0.756000 Mis granulosa-cell tumour of the ovary """Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III""" 6 11 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8218509 8218509 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:8218509C>T ENST00000361926.3 + 6 1284 c.1174C>T c.(1174-1176)Cgc>Tgc p.R392C ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R392C NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 392 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CCCTGGACCTCGCAACACCCT 0.647000 7 12 0 0 1 0 0 TSC22D1 8848 broad.mit.edu 37 13 45149841 45149841 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr13:45149841T>C ENST00000458659.2 - 1 860 c.370A>G c.(370-372)Agt>Ggt p.S124G TSC22D1_ENST00000501704.2_Missense_Mutation_p.S124G NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 124 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) GAGCTGATACTAGCGGAGATC 0.483000 106 55 0 0 1 0 0 ATF6B 1388 broad.mit.edu 37 6 32086784 32086784 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:32086784G>A ENST00000375201.4 - 10 1137 c.1092C>T c.(1090-1092)ctC>ctT p.L364L ATF6B_ENST00000375203.3_Silent_p.L367L Q99941 ATF6B_HUMAN activating transcription factor 6 beta 367 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 TCTCTCGGCGGAGCTGCTGGT 0.612000 12 20 0 0 1 0 0 GYG1 2992 broad.mit.edu 37 3 148714612 148714612 + Silent SNP C C A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:148714612C>A ENST00000345003.4 + 4 702 c.402C>A c.(400-402)tcC>tcA p.S134S GYG1_ENST00000483267.1_Silent_p.S134S|GYG1_ENST00000296048.6_Silent_p.S134S|GYG1_ENST00000484197.1_Silent_p.S134S NM_004130.3 NP_004121.2 P46976 GLYG_HUMAN glycogenin 1 134 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol glycogenin glucosyltransferase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GCTTCAATTCCGGAGTCTTCG 0.428000 27 72 6.12954e-19 6.60176e-19 1 1 0 ARHGEF28 64283 broad.mit.edu 37 5 73048784 73048784 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:73048784G>A ENST00000545377.1 + 4 408 c.232G>A c.(232-234)Ggt>Agt p.G78S ARHGEF28_ENST00000287898.5_Missense_Mutation_p.G78S|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.G78S|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.G78S|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.G78S|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.G78S NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 CTGCTCGGAAGGTTACTCTCC 0.582000 5 12 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256881 69256881 + Missense_Mutation SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:69256881C>G ENST00000439696.2 - 2 687 c.386G>C c.(385-387)tGt>tCt p.C129S ZFP36L1_ENST00000336440.3_Missense_Mutation_p.C129S|ZFP36L1_ENST00000555997.1_3'UTR NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 129 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CCCGTACTTACAGGCACCGTT 0.657000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 101 0 0 1 0 0 KIAA1984 84960 broad.mit.edu 37 9 139699038 139699038 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:139699038G>A ENST00000338005.6 + 7 786 c.751G>A c.(751-753)Gac>Aac p.D251N KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA NM_001039374.4 NP_001034463.4 Q5T5S1 K1984_HUMAN KIAA1984 251 biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 13 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124) GAAGCTGATCGACAAGATCCA 0.627000 21 43 0 0 1 0 0 EWSR1 2130 broad.mit.edu 37 22 29684723 29684723 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr22:29684723G>A ENST00000397938.2 + 8 1241 c.922G>A c.(922-924)Gat>Aat p.D308N EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000406548.1_Missense_Mutation_p.D308N|EWSR1_ENST00000333395.6_Missense_Mutation_p.D308N|EWSR1_ENST00000332035.6_Missense_Mutation_p.D252N|EWSR1_ENST00000414183.2_Missense_Mutation_p.D314N|EWSR1_ENST00000331029.7_Missense_Mutation_p.D308N 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 1 308 Arg/Gly/Pro-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 AGGGGGATTTGATCGTGGAGG 0.547000 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""" 6 23 0 0 1 0 0 PEF1 553115 broad.mit.edu 37 1 32110456 32110456 + Missense_Mutation SNP A A G rs140479455 TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:32110456A>G ENST00000373703.4 - 1 32 c.10T>C c.(10-12)Tat>Cat p.Y4H RP11-73M7.6_ENST00000610043.1_RNA|PEF1_ENST00000440872.2_Missense_Mutation_p.Y4H|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.9_ENST00000581333.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA NM_012392.3 NP_036524.1 Q9UBV8 PEF1_HUMAN penta-EF-hand domain containing 1 4 response to calcium ion cytoplasm|membrane calcium ion binding|protein heterodimerization activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1) 7 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186) STAD - Stomach adenocarcinoma(196;0.0546) CGGTAAGGATAGCTGGCCATG 0.657000 3 6 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107978993 107978993 + Silent SNP G G A rs142601893 byFrequency TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chrX:107978993G>A ENST00000372129.2 - 1 658 c.582C>T c.(580-582)ctC>ctT p.L194L NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 194 PH. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 TGAGGCGGCTGAGCAGCAAGT 0.672000 18 14 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126238753 126238753 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:126238753T>C ENST00000394329.3 + 1 1200 c.1187T>C c.(1186-1188)gTg>gCg p.V396A NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 396 Cadherin 4. 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 AACATCTCCGTGCAAATTCTC 0.602000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 11 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67918015 67918015 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr16:67918015C>T ENST00000358933.5 + 29 4409 c.4170C>T c.(4168-4170)ctC>ctT p.L1390L CTC-479C5.10_ENST00000572067.1_lincRNA NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 1390 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GTCTCAGCCTCATGCTGCATG 0.612000 OREG0023890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 21 0 0 1 0 0 TRAM2 9697 broad.mit.edu 37 6 52380840 52380840 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:52380840G>T ENST00000182527.3 - 4 374 c.375C>A c.(373-375)ttC>ttA p.F125L EFHC1_ENST00000433625.2_Intron NM_012288.3 NP_036420.1 Q15035 TRAM2_HUMAN translocation associated membrane protein 2 125 TLC. collagen biosynthetic process|protein transport|transmembrane transport integral to membrane protein binding endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1) 13 Lung NSC(77;0.109) TCACCGAGGTGAAATGAAAGA 0.483000 46 121 1.30916e-28 1.4254e-28 1 1 0 SCAI 286205 broad.mit.edu 37 9 127790673 127790673 + Nonsense_Mutation SNP A A T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:127790673A>T ENST00000336505.6 - 5 469 c.411T>A c.(409-411)taT>taA p.Y137* SCAI_ENST00000373549.4_Nonsense_Mutation_p.Y160* NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity). negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 TTACTTACTAATAATGATAGT 0.353000 24 59 0 0 1 0 0 C15orf52 388115 broad.mit.edu 37 15 40627559 40627559 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:40627559C>T ENST00000397536.2 - 7 810 c.775G>A c.(775-777)Gag>Aag p.E259K C15orf52_ENST00000559313.1_Missense_Mutation_p.E469K Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 469 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 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;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) ACTTCCAGCTCAGCCTGGTGA 0.662000 16 10 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38800076 38800076 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr15:38800076G>T ENST00000310803.5 - 9 1270 c.1093C>A c.(1093-1095)Ctg>Atg p.L365M RASGRP1_ENST00000450598.2_Missense_Mutation_p.L365M|RASGRP1_ENST00000561180.1_Missense_Mutation_p.L416M|RASGRP1_ENST00000558164.1_Missense_Mutation_p.L365M|RASGRP1_ENST00000539159.1_Missense_Mutation_p.L317M|RASGRP1_ENST00000559830.1_Missense_Mutation_p.L365M NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 365 Ras-GEF. cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) GCTTCATACAGGGAGATGAGG 0.507000 7 13 6.40141e-05 6.59968e-05 1 1 0 DST 667 broad.mit.edu 37 6 56469916 56469916 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:56469916G>A ENST00000370754.5 - 39 9410 c.9411C>T c.(9409-9411)ttC>ttT p.F3137F DST_ENST00000361203.3_Silent_p.F2959F|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Silent_p.F2959F|DST_ENST00000446842.2_Silent_p.F2633F|DST_ENST00000370769.4_Silent_p.F2959F|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron Q03001 DYST_HUMAN dystonin 2959 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GTCCATCAGTGAATGACTCCT 0.348000 6 25 0 0 1 0 0 DNAJB1 3337 broad.mit.edu 37 19 14627647 14627647 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:14627647G>A ENST00000254322.2 - 2 493 c.423C>T c.(421-423)ttC>ttT p.F141F DNAJB1_ENST00000396969.4_Silent_p.F41F NM_006145.1 NP_006136.1 P25685 DNJB1_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 1 141 chaperone cofactor-dependent protein refolding|response to unfolded protein cytoplasm|nucleolus heat shock protein binding|unfolded protein binding NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1) 16 GBM - Glioblastoma multiforme(1328;0.0476) TCACGTTGGTGAAGCCACCCA 0.572000 23 60 0 0 1 0 0 TBX19 9095 broad.mit.edu 37 1 168282123 168282123 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:168282123G>T ENST00000367821.3 + 8 1281 c.1230G>T c.(1228-1230)gaG>gaT p.E410D TBX19_ENST00000465440.1_3'UTR NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 410 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) TTCTGGGGGAGCCCTCGCTAA 0.637000 27 27 1.04121e-07 1.08953e-07 1 1 0 ZFP30 22835 broad.mit.edu 37 19 38135527 38135527 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:38135527G>T ENST00000351218.2 - 4 677 c.120C>A c.(118-120)agC>agA p.S40R ZFP30_ENST00000514101.2_Missense_Mutation_p.S40R|ZFP30_ENST00000392144.1_Missense_Mutation_p.S40R|ZFP30_ENST00000589018.1_Missense_Mutation_p.S40R NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein 40 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACACCAAGTTGCTATAGTTCT 0.398000 100 82 1.39607e-43 1.52477e-43 1 1 0 PURA 5813 broad.mit.edu 37 5 139494615 139494615 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:139494615G>A ENST00000331327.3 + 1 908 c.849G>A c.(847-849)gaG>gaA p.E283E NM_005859.4 NP_005850.1 Q00577 PURA_HUMAN purine-rich element binding protein A 283 DNA unwinding involved in replication|DNA-dependent DNA replication initiation DNA replication factor A complex double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATTCAAGAGAAGCAGAGGG 0.592000 13 42 0 0 1 0 0 ZNF148 7707 broad.mit.edu 37 3 124953137 124953137 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:124953137C>T ENST00000360647.4 - 8 1189 c.704G>A c.(703-705)aGa>aAa p.R235K SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.R235K|ZNF148_ENST00000485866.1_Missense_Mutation_p.R235K|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Missense_Mutation_p.R235K NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 235 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 TTGTATGAATCTCATACCACA 0.323000 45 95 0 0 1 0 0 PTHLH 5744 broad.mit.edu 37 12 28122374 28122374 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:28122374G>A ENST00000535992.1 - 2 400 c.54C>T c.(52-54)taC>taT p.Y18Y PTHLH_ENST00000538310.1_Silent_p.Y18Y|PTHLH_ENST00000201015.4_Silent_p.Y18Y|PTHLH_ENST00000354417.3_Silent_p.Y18Y|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395868.3_Silent_p.Y18Y|PTHLH_ENST00000539239.1_Silent_p.Y18Y|PTHLH_ENST00000545234.1_Silent_p.Y18Y|PTHLH_ENST00000395872.1_Silent_p.Y18Y P12272 PTHR_HUMAN parathyroid hormone-like hormone 18 activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 10 Lung SC(9;0.184) AGGGCACCGCGTAGCTCAGCA 0.706000 3 1 0 0 1 0 0 MX2 4600 broad.mit.edu 37 21 42778862 42778862 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr21:42778862C>T ENST00000330714.3 + 13 2026 c.1842C>T c.(1840-1842)ccC>ccT p.P614P NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 614 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) CTCATTTTCCCAGTAATGAGT 0.463000 7 70 0 0 1 0 0 CNN2 1265 broad.mit.edu 37 19 1037663 1037663 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:1037663G>A ENST00000263097.4 + 7 1057 c.694G>A c.(694-696)Gat>Aat p.D232N CNN2_ENST00000562958.2_Missense_Mutation_p.D253N|CNN2_ENST00000565096.2_Missense_Mutation_p.D221N|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Missense_Mutation_p.D193N NM_004368.2 NP_004359.1 Q99439 CNN2_HUMAN calponin 2 232 actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCACATCTATGATACCAAGCT 0.632000 47 132 0 0 1 0 0 C4B 721 broad.mit.edu 37 6 31996242 31996242 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:31996242C>T ENST00000435363.2 + 25 3247 c.3163C>T c.(3163-3165)Cgg>Tgg p.R1055W C4B_ENST00000425700.2_Missense_Mutation_p.R1055W NM_001002029.3 NP_001002029.3 P0C0L5 CO4B_HUMAN complement component 4B (Chido blood group) 1055 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity AGGCTACATGCGGATCCAGCA 0.607000 3 34 0 0 1 0 0 CDC42 998 broad.mit.edu 37 1 22412971 22412971 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:22412971C>T ENST00000344548.3 + 5 469 c.218C>T c.(217-219)cCa>cTa p.P73L CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000315554.8_Missense_Mutation_p.P73L|CDC42_ENST00000421089.2_Missense_Mutation_p.P115L|CDC42_ENST00000400259.1_Missense_Mutation_p.P73L NM_001039802.1 NP_001034891.1 P60953 CDC42_HUMAN cell division cycle 42 73 actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|filopodium|plasma membrane GTP binding|GTPase activity|protein binding|thioesterase binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4) 12 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792) UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207) CTGAGTTATCCACAAACAGAT 0.383000 9 99 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97427205 97427205 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:97427205G>A ENST00000377075.2 + 1 567 c.469G>A c.(469-471)Gac>Aac p.D157N NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 157 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 GGCCCAGCCCGACGGGCCCTG 0.627000 123 64 0 0 1 0 0 PLAGL2 5326 broad.mit.edu 37 20 30789833 30789833 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr20:30789833G>A ENST00000246229.4 - 2 413 c.149C>T c.(148-150)tCa>tTa p.S50L NM_002657.3 NP_002648.1 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 50 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CTCCCCATTTGAGAAAGGTGT 0.562000 30 43 0 0 1 0 0 INSM1 3642 broad.mit.edu 37 20 20350370 20350370 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr20:20350370C>T ENST00000310227.1 + 1 1606 c.1459C>T c.(1459-1461)Cac>Tac p.H487Y NM_002196.2 NP_002187.1 Q01101 INSM1_HUMAN insulinoma-associated 1 487 endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding liver(1)|lung(3)|ovary(1)|prostate(1) 6 READ - Rectum adenocarcinoma(2;0.0649) CCTTACGCGGCACATCAACAA 0.697000 10 21 0 0 1 0 0 PSMD3 5709 broad.mit.edu 37 17 38146155 38146155 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:38146155G>C ENST00000264639.4 + 5 1024 c.850G>C c.(850-852)Gag>Cag p.E284Q PSMD3_ENST00000541736.1_Missense_Mutation_p.E146Q NM_002809.3 NP_002800.2 O43242 PSMD3_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 284 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(19;0.000442) CAACAACAATGAGTGGGCCAG 0.542000 9 58 0 0 1 0 0 CTSK 1513 broad.mit.edu 37 1 150772126 150772126 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:150772126C>T ENST00000271651.3 - 6 788 c.678G>A c.(676-678)gaG>gaA p.E226E NM_000396.3 NP_000387.1 P43235 CATK_HUMAN cathepsin K 226 proteolysis lysosome cysteine-type endopeptidase activity|protein binding cervix(1)|endometrium(1)|lung(4)|skin(1) 7 all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CCTCGGGGATCTCTCTGTACC 0.502000 14 136 0 0 1 0 0 ZNF506 440515 broad.mit.edu 37 19 19917758 19917758 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:19917758G>A ENST00000443905.2 - 2 270 c.123C>T c.(121-123)atC>atT p.I41I ZNF506_ENST00000540806.2_Silent_p.I41I|ZNF506_ENST00000450683.2_Silent_p.I41I|ZNF506_ENST00000587461.1_Silent_p.I41I|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000545006.1_Silent_p.I41I|ZNF506_ENST00000587452.1_Silent_p.I41I|CTC-559E9.6_ENST00000591884.1_RNA Q5JVG8 ZN506_HUMAN zinc finger protein 506 41 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1) 14 CACCAAGGAAGATCAGGTTTC 0.363000 62 92 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86332830 86332830 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:86332830C>T ENST00000263857.6 - 1 448 c.70G>A c.(70-72)Gag>Aag p.E24K POLR1A_ENST00000409681.1_Missense_Mutation_p.E24K O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 24 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 TACTTGAGCTCTTCAGCCGAA 0.562000 20 41 0 0 1 0 0 SLC35D3 340146 broad.mit.edu 37 6 137243662 137243662 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr6:137243662C>T ENST00000331858.4 + 1 261 c.96C>T c.(94-96)ctC>ctT p.L32L NM_001008783.1 NP_001008783.1 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 32 carbohydrate transport integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) TCAAGTTCCTCATCAGCCGCT 0.682000 6 16 0 0 1 0 0 NPR2 4882 broad.mit.edu 37 9 35792663 35792663 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:35792663C>T ENST00000342694.2 + 1 513 c.258C>T c.(256-258)gaC>gaT p.D86D NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 86 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) GCGCTGTGGACCTCAAGCTGT 0.662000 45 101 0 0 1 0 0 TRMT10A 93587 broad.mit.edu 37 4 100477342 100477342 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:100477342C>T ENST00000273962.3 - 5 768 c.456G>A c.(454-456)aaG>aaA p.K152K TRMT10A_ENST00000394876.2_Silent_p.K152K|TRMT10A_ENST00000394877.3_Silent_p.K152K NM_152292.4 NP_689505.1 tRNA methyltransferase 10 homolog A (S. cerevisiae) CATCCATGTTCTTTTTCAGCT 0.313000 7 33 0 0 1 0 0 ZFAND2B 130617 broad.mit.edu 37 2 220072409 220072409 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:220072409G>C ENST00000409594.1 + 3 385 c.190G>C c.(190-192)Gtg>Ctg p.V64L ZFAND2B_ENST00000409336.1_Missense_Mutation_p.V64L|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.V64L|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.V64L|ZFAND2B_ENST00000468301.1_3'UTR|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.V64L|ZFAND2B_ENST00000409319.1_Missense_Mutation_p.V64L|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.V64L|ZFAND2B_ENST00000409412.1_Missense_Mutation_p.V64L|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.V64L Q8WV99 ZFN2B_HUMAN zinc finger, AN1-type domain 2B 64 endoplasmic reticulum protein binding|zinc ion binding endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1) 11 Renal(207;0.0915) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TAATGTGCCTGTGCCTGTGGC 0.547000 23 21 0 0 1 0 0 TAF1D 79101 broad.mit.edu 37 11 93471565 93471565 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:93471565C>T ENST00000448108.2 - 3 819 c.169G>A c.(169-171)Gaa>Aaa p.E57K NM_024116.3 NP_077021.1 Q9H5J8 TAF1D_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa 57 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding large_intestine(1)|lung(3)|prostate(1)|skin(2) 7 TGAACACTTTCAGGTGTACGA 0.358000 16 39 0 0 1 0 0 BAZ1A 11177 broad.mit.edu 37 14 35331267 35331267 + Silent SNP A A T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr14:35331267A>T ENST00000360310.1 - 3 942 c.375T>A c.(373-375)atT>atA p.I125I BAZ1A_ENST00000382422.2_Silent_p.I125I|BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000358716.4_Silent_p.I125I NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 125 Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) CATTGTTCCTAATGACTTCCA 0.373000 23 47 0 0 1 0 0 C10orf35 219738 broad.mit.edu 37 10 71392812 71392812 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:71392812G>A ENST00000373279.4 + 4 522 c.363G>A c.(361-363)cgG>cgA p.R121R C10orf35_ENST00000491890.1_3'UTR NM_145306.2 NP_660349.1 Q96D05 CJ035_HUMAN chromosome 10 open reading frame 35 121 integral to membrane breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 5 TGAGTCAGCGGTGACCTCTGA 0.582000 15 108 0 0 1 0 0 CYC1 1537 broad.mit.edu 37 8 145151968 145151968 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:145151968G>C ENST00000318911.4 + 6 877 c.804G>C c.(802-804)aaG>aaC p.K268N NM_001916.3 NP_001907 P08574 CY1_HUMAN cytochrome c-1 268 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGATAGCCAAGGATGTGTGCA 0.587000 4 35 0 0 1 0 0 KIAA0368 23392 broad.mit.edu 37 9 114151937 114151937 + Nonsense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:114151937G>A ENST00000259335.4 - 32 3879 c.3880C>T c.(3880-3882)Cag>Tag p.Q1294* KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Nonsense_Mutation_p.Q1116* NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 GGAACTAGCTGAGGCAGAAAA 0.453000 16 28 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5021465 5021465 + Silent SNP C C G TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr12:5021465C>G ENST00000382545.3 + 2 2028 c.921C>G c.(919-921)cgC>cgG p.R307R KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 307 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGCTCTCCCGCCACTCTAAGG 0.547000 35 16 0 0 1 0 0 FUT4 2526 broad.mit.edu 37 11 94278138 94278138 + Missense_Mutation SNP T T C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:94278138T>C ENST00000358752.2 + 1 1122 c.839T>C c.(838-840)cTg>cCg p.L280P NM_002033.3 NP_002024.1 P22083 FUT4_HUMAN fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) 280 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction alpha(1,3)-fucosyltransferase activity central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GCAGAAGCCCTGGCGACCTCC 0.711000 6 9 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95141008 95141008 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr10:95141008G>A ENST00000371501.4 - 20 1966 c.1844C>T c.(1843-1845)tCa>tTa p.S615L MYOF_ENST00000358334.5_Missense_Mutation_p.S602L|MYOF_ENST00000371502.4_Missense_Mutation_p.S615L|MYOF_ENST00000359263.4_Missense_Mutation_p.S615L Q9NZM1 MYOF_HUMAN myoferlin 615 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CTGAGTTGTTGATGCCAAAGG 0.483000 31 30 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20828525 20828525 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr19:20828525G>A ENST00000601440.1 - 3 337 c.191C>T c.(190-192)aCc>aTc p.T64I ZNF626_ENST00000291750.6_Missense_Mutation_p.T64I|CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 64 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TCTCTTCATGGTCAAAGGTTT 0.378000 9 79 0 0 1 0 0 PRSS12 8492 broad.mit.edu 37 4 119216117 119216117 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:119216117G>A ENST00000296498.3 - 11 2298 c.2016C>T c.(2014-2016)ctC>ctT p.L672L PRSS12_ENST00000510903.1_Intron NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 672 Peptidase S1. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 GTGCTGCTGTGAGGACCCAGC 0.552000 18 24 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27092727 27092728 + Frame_Shift_Ins INS - - AATA TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr1:27092727_27092728insAATA ENST00000324856.7 + 9 3119_3120 c.2748_2749insAATA c.(2749-2751)aatfs p.-917fs ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.-917fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.-534fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CAGGCTACCCCAATATGAATCA 0.475 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 28 36 --- --- --- --- BIRC6 57448 broad.mit.edu 37 2 32740564 32740577 + Frame_Shift_Del DEL AGTTGGCAATAGCC AGTTGGCAATAGCC - TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr2:32740564_32740577delAGTTGGCAATAGCC ENST00000421745.2 + 55 11210_11223 c.11076_11089delAGTTGGCAATAGCC c.(11074-11091)gaagttggcaatagccatfs p.VGNSH3693fs NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3693 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TTTTGACAGAAGTTGGCAATAGCCATATTATGAA 0.435 11 28 --- --- --- --- GLT8D1 55830 broad.mit.edu 37 3 52730567 52730573 + Frame_Shift_Del DEL GGATTCC GGATTCC - TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr3:52730567_52730573delGGATTCC ENST00000407584.3 - 6 1282_1288 c.432_438delGGAATCC c.(430-438)ggggaatccfs p.GES144fs GLT8D1_ENST00000478968.2_Frame_Shift_Del_p.GES144fs|GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000394783.3_Frame_Shift_Del_p.GES144fs|GLT8D1_ENST00000266014.5_Frame_Shift_Del_p.GES144fs|GLT8D1_ENST00000491606.1_Frame_Shift_Del_p.GES144fs NM_001010983.1|NM_001278280.1 NP_001010983.1|NP_001265209.1 Q68CQ7 GL8D1_HUMAN glycosyltransferase 8 domain containing 1 144 integral to membrane|mitochondrion transferase activity, transferring glycosyl groups breast(1)|endometrium(1)|kidney(3)|large_intestine(3) 8 BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CAGGTTTCATGGATTCCCCCTGGTCAG 0.425 11 32 --- --- --- --- LRBA 987 broad.mit.edu 37 4 151223814 151223841 + Frame_Shift_Del DEL CCAATACCACAGCAAAAGAGTTGCATCA CCAATACCACAGCAAAAGAGTTGCATCA - rs146567994 TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr4:151223814_151223841delCCAATACCACAGCAAAAGAGTTGCATCA ENST00000535741.1 - 53 8426_8453 c.7953_7980delTGATGCAACTCTTTTGCTGTGGTATTGG c.(7951-7980)cgtgatgcaactcttttgctgtggtattggfs p.RDATLLLWYW2651fs LRBA_ENST00000357115.3_Frame_Shift_Del_p.RDATLLLWYW2662fs|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Frame_Shift_Del_p.RDATLLLWYW2651fs P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2662 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding p.D2663Y(1) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) ATTTTCCATTCCAATACCACAGCAAAAGAGTTGCATCACGTGACCCTG 0.412 7 85 --- --- --- --- MYO10 4651 broad.mit.edu 37 5 16701909 16701910 + Frame_Shift_Ins INS - - A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr5:16701909_16701910insA ENST00000513610.1 - 25 3048_3049 c.2594_2595insT c.(2593-2595)ttgfs p.L865fs MYO10_ENST00000505695.1_Frame_Shift_Ins_p.L204fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.L204fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.L222fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.L222fs NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 865 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GGCTCTTCTGCAAGGCTTCGAG 0.490 13 24 --- --- --- --- BLK 640 broad.mit.edu 37 8 11407730 11407731 + Frame_Shift_Ins INS - - GGCCG TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:11407730_11407731insGGCCG ENST00000259089.4 + 6 1023_1024 c.431_432insGGCCG c.(430-435)aaggccfs p.-146fs BLK_ENST00000529894.1_Frame_Shift_Ins_p.-75fs NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) CCAATCAACAAGGCCGGCTCCT 0.559 11 61 --- --- --- --- CHRNA6 8973 broad.mit.edu 37 8 42611400 42611422 + Frame_Shift_Del DEL GACAAAGATCATGGTGAACAGCA GACAAAGATCATGGTGAACAGCA - rs35812517 TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:42611400_42611422delGACAAAGATCATGGTGAACAGCA ENST00000276410.2 - 5 1275_1297 c.920_942delTGCTGTTCACCATGATCTTTGTC c.(919-942)ctgctgttcaccatgatctttgtcfs p.LLFTMIFV307fs CHRNA6_ENST00000534622.1_Frame_Shift_Del_p.LLFTMIFV292fs NM_004198.3 NP_004189.1 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 (neuronal) 307 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) TGGACAGTGTGACAAAGATCATGGTGAACAGCAGGTACTCACC 0.498 12 65 --- --- --- --- CDH17 1015 broad.mit.edu 37 8 95178028 95178036 + In_Frame_Del DEL TATCTTGCT TATCTTGCT - TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr8:95178028_95178036delTATCTTGCT ENST00000027335.3 - 10 1359_1367 c.1235_1243delAGCAAGATA c.(1234-1245)aagcaagatact>act p.KQD412del CDH17_ENST00000450165.2_In_Frame_Del_p.KQD412del|CDH17_ENST00000441892.2_In_Frame_Del_p.KQD198del NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 412 Cadherin 4. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TACTGAGGAGTATCTTGCTTCTTCAAGGA 0.407 44 112 --- --- --- --- REXO4 57109 broad.mit.edu 37 9 136282872 136282873 + Frame_Shift_Ins INS - - T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr9:136282872_136282873insT ENST00000371942.3 - 1 291_292 c.92_93insA c.(91-93)aacfs p.N31fs ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Frame_Shift_Ins_p.N31fs|REXO4_ENST00000478037.1_5'UTR NM_020385.2 NP_065118.2 Q9GZR2 REXO4_HUMAN REX4, RNA exonuclease 4 homolog (S. cerevisiae) 31 nucleolus exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05) TTTTCTTCTTGTTTTTCTTCCG 0.604 84 164 --- --- --- --- GUCY1A2 2977 broad.mit.edu 37 11 106579265 106579267 + In_Frame_Del DEL CGC CGC - TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr11:106579265_106579267delCGC ENST00000526355.2 - 7 2430_2432 c.1962_1964delGCG c.(1960-1965)cggcgc>cgc p.654_655RR>R GUCY1A2_ENST00000282249.2_In_Frame_Del_p.685_686RR>R|GUCY1A2_ENST00000347596.2_In_Frame_Del_p.675_676RR>R NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GACATTGATGCGCCGAGGGTGAC 0.527 10 22 --- --- --- --- SPATA32 124783 broad.mit.edu 37 17 43332964 43332978 + In_Frame_Del DEL GGCCTCCCGGAGCGG GGCCTCCCGGAGCGG - rs139446441 by1000genomes TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr17:43332964_43332978delGGCCTCCCGGAGCGG ENST00000543122.1 - 6 1289_1303 c.508_522delCCGCTCCGGGAGGCC c.(508-522)ccgctccgggaggccdel p.PLREA170del MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000331780.4_In_Frame_Del_p.PLREA191del|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA spermatogenesis associated 32 p.P191L(1) TGGTGGGGATGGCCTCCCGGAGCGGGGATCTGATG 0.637 10 60 --- --- --- --- SLC23A2 9962 broad.mit.edu 37 20 4880206 4880207 + Frame_Shift_Del DEL TC TC - TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr20:4880206_4880207delTC ENST00000379333.1 - 6 868_869 c.476_477delGA c.(475-477)ggafs p.G159fs SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.G159fs|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.G159fs NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 159 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CTCACCTGCATCCAAACGTTGT 0.550 98 181 --- --- --- --- CHD6 84181 broad.mit.edu 37 20 40042097 40042108 + In_Frame_Del DEL CCTGGCCCCTCA CCTGGCCCCTCA - rs35107152 TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr20:40042097_40042108delCCTGGCCCCTCA ENST00000373233.3 - 35 7164_7175 c.6987_6998delTGAGGGGCCAGG c.(6985-6999)cctgaggggccaggg>ccg p.EGPG2330del CHD6_ENST00000480022.1_5'UTR NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2330 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GGTGGCAGGCCCTGGCCCCTCAGGGTGTGTGG 0.552 5 11 --- --- --- --- PICK1 9463 broad.mit.edu 37 22 38455260 38455260 + Frame_Shift_Del DEL G G - TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chr22:38455260delG ENST00000404072.3 + 3 408 c.61delG c.(61-63)gggfs p.G21fs PICK1_ENST00000468288.1_3'UTR|RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Frame_Shift_Del_p.G21fs NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 21 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) GACTGTGCCTGGGAAGGTGAC 0.577 2 4 --- --- --- --- ARX 170302 broad.mit.edu 37 X 25025306 25025322 + Frame_Shift_Del DEL CCGCTGGGCGGCAGGCT CCGCTGGGCGGCAGGCT - TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 658bd4ea-d83d-4393-b14f-fb6dab30c44a e949a0dd-8e59-477d-9a67-c006dfcbecd1 g.chrX:25025306_25025322delCCGCTGGGCGGCAGGCT ENST00000379044.4 - 4 1564_1580 c.1354_1370delAGCCTGCCGCCCAGCGG c.(1354-1371)agcctgccgcccagcgggfs p.SLPPSG452fs NM_139058.2 NP_620689.1 Q96QS3 ARX_HUMAN aristaless related homeobox 452 Ala-rich.|Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(1) 4 CAGCGGCGCCCCGCTGGGCGGCAGGCTGGCCGAGCCC 0.733 8 0 --- --- --- ---