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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample KCNAB2 8514 broad.mit.edu 37 1 6156774 6156774 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:6156774A>G uc009vlv.1 + 14 1018 c.883A>G c.(883-885)ATC>GTC p.I295V KCNAB2_uc001alv.1_Missense_Mutation_p.I295V|KCNAB2_uc001alw.1_Missense_Mutation_p.I281V|KCNAB2_uc001alx.1_Missense_Mutation_p.I295V|KCNAB2_uc001aly.1_Missense_Mutation_p.I343V|KCNAB2_uc009vlw.1_Missense_Mutation_p.I228V|KCNAB2_uc001alu.2_Missense_Mutation_p.I295V NM_003636 NP_003627 Q13303 KCAB2_HUMAN potassium voltage-gated channel, shaker-related 295 cytoplasm|integral to membrane|juxtaparanode region of axon oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity 0 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649) GCTGCAGGCCATCGCCGAGCG 0.692 NaN 0 0 0 0.014758 0 5 7 PLEKHG5 57449 broad.mit.edu 37 1 6529488 6529488 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:6529488C>T uc001ano.1 - 19 2225 c.2124G>A c.(2122-2124)CTG>CTA p.L708L PLEKHG5_uc001ann.1_Silent_p.L689L|PLEKHG5_uc001anq.1_Silent_p.L729L|PLEKHG5_uc001anp.1_Silent_p.L729L|PLEKHG5_uc001anj.1_Silent_p.L213L|PLEKHG5_uc009vma.1_Silent_p.L492L|PLEKHG5_uc010nzr.1_Silent_p.L721L|PLEKHG5_uc001ank.1_Silent_p.L652L|PLEKHG5_uc009vmb.1_Silent_p.L652L|PLEKHG5_uc001anl.1_Silent_p.L652L|PLEKHG5_uc001anm.1_Silent_p.L652L|PLEKHG5_uc001anr.1_5'Flank NM_001042663 NP_001036128 O94827 PKHG5_HUMAN pleckstrin homology domain containing family G 708 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) GAAACTCATTCAGGTAGATAA 0.592 NaN 0 0 0 0.021022 0 39 140 SLC45A1 50651 broad.mit.edu 37 1 8385897 8385897 + Silent SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:8385897G>T uc001apb.2 + 3 510 c.510G>T c.(508-510)TCG>TCT p.S170S NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 170 Helical; (Potential). carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) TGGGCCTCTCGCTCTTGCTGA 0.597 NaN 1 0 7.93312e-07 0.020292 8.4505e-07 14 60 GALE 2582 broad.mit.edu 37 1 24124667 24124667 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:24124667C>T uc009vqo.1 - 4 501 c.291G>A c.(289-291)TCG>TCA p.S97S GALE_uc001bhv.1_Silent_p.S97S|GALE_uc001bhw.1_Silent_p.S97S|GALE_uc001bhx.1_Silent_p.S97S|GALE_uc009vqp.1_Silent_p.S97S|GALE_uc001bhy.1_Silent_p.S97S|GALE_uc001bhz.1_Silent_p.S23S|GALE_uc001bia.2_5'Flank|GALE_uc009vqq.1_3'UTR NM_001127621 NP_001121093 Q14376 GALE_HUMAN UDP-galactose-4-epimerase 97 galactose catabolic process cytosol coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity 0 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) GCTTCTGCACCGACTCGCCCA 0.562 NaN 0 0 0 0.014758 0 5 96 SEPN1 57190 broad.mit.edu 37 1 26140386 26140386 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:26140386C>T uc010oer.1 + 14 1457 c.1402C>T c.(1402-1404)CTC>TTC p.L468F SEPN1_uc010oes.1_Missense_Mutation_p.L434F NM_020451 NP_065184 Q9NZV5 SELN_HUMAN selenoprotein N, 1 isoform 1 precursor 468 endoplasmic reticulum membrane|extracellular region protein binding ovary(2) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) AGGGCGGACTCTCCGGGAGAC 0.602 NaN 0 0 0 0.010729 0 11 67 C1orf38 9473 broad.mit.edu 37 1 28208582 28208582 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:28208582G>A uc001bpc.3 + 4 775 c.747G>A c.(745-747)CTG>CTA p.L249L C1orf38_uc001boz.2_Intron|C1orf38_uc001bpa.2_Intron|C1orf38_uc010ofn.1_Intron|C1orf38_uc010ofo.1_Silent_p.L249L NM_001105556 NP_001099026 Q5TEJ8 THMS2_HUMAN basement membrane-induced gene isoform 3 249 CABIT 2. cell adhesion|inflammatory response ovary(1) 1 Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649) CGCTGCTGCTGAGCGAGGTCC 0.637 NaN 0 0 0 0.00499 0 15 46 ZMYM1 79830 broad.mit.edu 37 1 35580244 35580244 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:35580244G>C uc001bym.2 + 11 2961 c.2813G>C c.(2812-2814)AGA>ACA p.R938T ZMYM1_uc001byn.2_Missense_Mutation_p.R938T|ZMYM1_uc010ohu.1_Missense_Mutation_p.R919T|ZMYM1_uc001byo.2_Missense_Mutation_p.R578T|ZMYM1_uc009vut.2_Missense_Mutation_p.R863T NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 938 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTTCAGAAAAGAAGAAAAATT 0.284 NaN 0 0 0 0.014758 0 4 54 KCNQ4 9132 broad.mit.edu 37 1 41282936 41282936 + Splice_Site SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:41282936G>C uc001cgh.1 + 2 397 c.315_splice c.e2-1 p.I105_splice KCNQ4_uc001cgi.1_Splice_Site_p.I105_splice NM_004700 NP_004691 P56696 KCNQ4_HUMAN potassium voltage-gated channel KQT-like protein sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) TGTAATTGCAGATTTTTGCTG 0.522 NaN 0 0 0 0.009096 0 4 28 SLC2A1 6513 broad.mit.edu 37 1 43395392 43395392 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:43395392C>T uc001cik.2 - 6 1264 c.739G>A c.(739-741)GAG>AAG p.E247K NM_006516 NP_006507 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose 247 Cytoplasmic (Potential). carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(2)|pancreas(2)|ovary(1) 5 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) TGCCGACTCTCTTCCTTCATC 0.627 NaN 0 0 0 0.01441 0 60 124 SLC2A1 6513 broad.mit.edu 37 1 43395395 43395395 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:43395395C>T uc001cik.2 - 6 1261 c.736G>A c.(736-738)GAA>AAA p.E246K NM_006516 NP_006507 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose 246 Cytoplasmic (Potential). carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(2)|pancreas(2)|ovary(1) 5 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) CGACTCTCTTCCTTCATCTCC 0.622 NaN 0 0 0 0.01441 0 61 122 MMACHC 25974 broad.mit.edu 37 1 45966020 45966020 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:45966020G>T uc009vxv.2 + 1 165 c.16G>T c.(16-18)GCA>TCA p.A6S CCDC163P_uc001cnt.2_5'Flank|CCDC163P_uc001cnw.2_5'Flank|CCDC163P_uc001cnu.2_5'Flank|CCDC163P_uc009vxt.1_5'Flank|CCDC163P_uc001cnv.2_5'Flank|CCDC163P_uc009vxu.1_5'Flank|MMACHC_uc001cny.2_RNA NM_015506 NP_056321 Q9Y4U1 MMAC_HUMAN methylmalonic aciduria (cobalamin deficiency) 6 cobalamin binding 0 Acute lymphoblastic leukemia(166;0.155) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCCGAAAGTCGCAGAGCTGAA 0.512 NaN 1 0 3.52763e-06 0.00499 3.71159e-06 17 131 SLC5A9 200010 broad.mit.edu 37 1 48701486 48701486 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:48701486C>T uc001cro.2 + 10 1279 c.1227C>T c.(1225-1227)TTC>TTT p.F409F SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Silent_p.F434F|SLC5A9_uc010omt.1_Silent_p.F423F|SLC5A9_uc001crp.2_Silent_p.F76F|SLC5A9_uc010omu.1_Silent_p.F76F NM_001011547 NP_001011547 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/glucose 409 Cytoplasmic (Potential). integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity ovary(3) 3 GCACCCTGTTCACCATTGATG 0.612 NaN 0 0 0 0.013726 0 30 48 ORC1L 4998 broad.mit.edu 37 1 52861995 52861995 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:52861995C>T uc001ctt.2 - 5 663 c.444G>A c.(442-444)CTG>CTA p.L148L ORC1L_uc010oni.1_Silent_p.L148L|ORC1L_uc001ctu.2_Silent_p.L148L|ORC1L_uc009vzd.2_5'UTR NM_004153 NP_004144 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 148 BAH. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding 0 TCTCATTTTTCAGATTCGTCG 0.418 NaN 0 0 0 0.01441 0 63 77 LEPR 3953 broad.mit.edu 37 1 66083712 66083712 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:66083712C>G uc001dci.2 + 16 2480 c.2278C>G c.(2278-2280)CTA>GTA p.L760V LEPR_uc001dcg.2_Missense_Mutation_p.L760V|LEPR_uc001dch.2_Missense_Mutation_p.L760V|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.L760V|LEPR_uc001dck.2_Missense_Mutation_p.L760V NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 760 Extracellular (Potential).|Fibronectin type-III 4. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TTCCTGGATACTATCACCCAG 0.318 NaN 0 0 0 0.013537 0 13 55 ST6GALNAC5 81849 broad.mit.edu 37 1 77516012 77516012 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:77516012G>C uc001dhi.2 + 4 916 c.741G>C c.(739-741)AGG>AGC p.R247S ST6GALNAC5_uc010ori.1_3'UTR|ST6GALNAC5_uc009wbw.2_RNA NM_030965 NP_112227 Q9BVH7 SIA7E_HUMAN sialyltransferase 7E 247 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity pancreas(1)|skin(1) 2 TCTGTGACAGGATCAATGTTT 0.433 NaN 0 0 0 0.006999 0 40 82 PIGK 10026 broad.mit.edu 37 1 77629564 77629564 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:77629564G>A uc001dhk.2 - 6 596 c.551C>T c.(550-552)GCG>GTG p.A184V PIGK_uc010orj.1_Missense_Mutation_p.A108V|PIGK_uc009wbx.2_Missense_Mutation_p.A90V|PIGK_uc001dhl.1_Missense_Mutation_p.A184V NM_005482 NP_005473 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, 184 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding ovary(2)|pancreas(1) 3 AAAAGCATCCGCGAGTTCTAT 0.308 NaN 0 0 0 0.00499 0 15 40 RBM15 64783 broad.mit.edu 37 1 110882503 110882503 + Nonsense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:110882503C>G uc001dzl.1 + 1 559 c.476C>G c.(475-477)TCA>TGA p.S159* RBM15_uc001dzm.1_Nonsense_Mutation_p.S159*|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 159 Gly/Ser-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) GCCGCCTCCTCAGCTCCCGGC 0.642 NaN T MKL1 acute megakaryocytic leukemia OREG0013656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010504 0 20 32 OVGP1 5016 broad.mit.edu 37 1 111957832 111957832 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:111957832C>A uc001eba.2 - 11 1347 c.1291G>T c.(1291-1293)GGG>TGG p.G431W OVGP1_uc001eaz.2_Missense_Mutation_p.G393W|OVGP1_uc010owb.1_Missense_Mutation_p.G79W NM_002557 NP_002548 Q12889 OVGP1_HUMAN oviductal glycoprotein 1 precursor 431 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity ovary(4)|large_intestine(1) 5 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) TCAGTGACCCCAGCCTCTCCT 0.498 NaN 1 0 2.23348e-06 0.004007 2.35718e-06 15 77 HIST2H2AB 317772 broad.mit.edu 37 1 149859361 149859361 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:149859361G>C uc001ete.2 - 1 106 c.106C>G c.(106-108)CGC>GGC p.R36G HIST2H2BE_uc001etc.2_5'Flank NM_175065 NP_778235 Q8IUE6 H2A2B_HUMAN histone cluster 2, H2ab 36 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|breast(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) TTGCCTTTGCGCAGCAAGCGG 0.697 NaN 0 0 0 0.007413 0 20 99 CGN 57530 broad.mit.edu 37 1 151491799 151491799 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:151491799G>A uc009wmw.2 + 2 948 c.804G>A c.(802-804)CAG>CAA p.Q268Q NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 262 Interacts with ZO-2.|Head. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GTTCTCGTCAGACTCAGGACT 0.552 NaN 0 0 0 0.013537 0 13 31 TCHH 7062 broad.mit.edu 37 1 152080319 152080319 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:152080319C>G uc001ezp.2 - 2 5374 c.5374G>C c.(5374-5376)GAG>CAG p.E1792Q TCHH_uc009wne.1_Missense_Mutation_p.E1792Q NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1792 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTCAGACTCTTGGCTGCGC 0.602 NaN 0 0 0 0.021523 0 25 75 TCHH 7062 broad.mit.edu 37 1 152080442 152080442 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:152080442C>G uc001ezp.2 - 2 5251 c.5251G>C c.(5251-5253)GAG>CAG p.E1751Q TCHH_uc009wne.1_Missense_Mutation_p.E1751Q NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1751 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCTCTTCCTCTAGGATTTTT 0.592 NaN 0 0 0 0.014323 0 23 69 SHE 126669 broad.mit.edu 37 1 154471660 154471660 + Nonsense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:154471660G>A uc001ffb.2 - 2 733 c.646C>T c.(646-648)CAA>TAA p.Q216* SHE_uc001ffc.2_RNA NM_001010846 NP_001010846 Q5VZ18 SHE_HUMAN Src homology 2 domain containing E 216 breast(3)|ovary(2)|central_nervous_system(1) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) GCATCCCTTTGACCCTTTGTC 0.453 NaN 0 0 0 0.01892 0 26 62 FCRL3 115352 broad.mit.edu 37 1 157650526 157650526 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:157650526C>T uc001frb.2 - 13 2284 c.1992G>A c.(1990-1992)CAG>CAA p.Q664Q FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.Q664Q|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.Q390Q|FCRL3_uc001frc.1_Silent_p.Q664Q NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 664 ITIM motif 2.|Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) TGCTCCAGATCTGGGAATAAA 0.433 NaN 0 0 0 0.019004 0 31 53 CD244 51744 broad.mit.edu 37 1 160808273 160808273 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:160808273C>G uc009wtq.2 - 5 995 c.817G>C c.(817-819)GAT>CAT p.D273H CD244_uc001fxa.2_Missense_Mutation_p.D268H|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.D176H NM_016382 NP_057466 Q9BZW8 CD244_HUMAN CD244 natural killer cell receptor 2B4 273 Cytoplasmic (Potential). blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TCCTTGACATCTTCGTAAATT 0.453 NaN 0 0 0 0.01441 0 140 80 DEDD 9191 broad.mit.edu 37 1 161094073 161094073 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:161094073G>A uc001fxz.2 - 3 353 c.180C>T c.(178-180)CTC>CTT p.L60L NIT1_uc001fxw.2_3'UTR|DEDD_uc009wty.2_Silent_p.L60L|DEDD_uc001fya.2_Silent_p.L60L|DEDD_uc001fyb.2_Silent_p.L60L|DEDD_uc010pkb.1_Intron|DEDD_uc001fyc.2_Intron NM_001039712 NP_001034801 O75618 DEDD_HUMAN death effector domain-containing protein 60 DED. apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding 0 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CATTTCGGATGAGTCCACGCT 0.527 NaN 0 0 0 0.01441 0 64 29 APOA2 336 broad.mit.edu 37 1 161193191 161193191 + Missense_Mutation SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:161193191T>C uc001fzc.1 - 2 59 c.1A>G c.(1-3)ATG>GTG p.M1V APOA2_uc001fzb.1_RNA|TOMM40L_uc010pkk.1_5'Flank|TOMM40L_uc010pkl.1_5'Flank|TOMM40L_uc001fzd.2_5'Flank|TOMM40L_uc009wue.2_5'Flank|TOMM40L_uc009wuf.1_5'Flank|TOMM40L_uc001fze.2_5'Flank NM_001643 NP_001634 P02652 APOA2_HUMAN apolipoprotein A-II preproprotein 1 cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity skin(1) 1 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) AGCAGCTTCATGTTGGTAACA 0.582 NaN 0 0 0 0.004482 0 8 40 PBX1 5087 broad.mit.edu 37 1 164769086 164769086 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:164769086G>A uc001gct.2 + 4 919 c.661G>A c.(661-663)GAG>AAG p.E221K PBX1_uc010pku.1_Missense_Mutation_p.E221K|PBX1_uc010pkv.1_Missense_Mutation_p.E138K|PBX1_uc001gcs.2_Missense_Mutation_p.E221K|PBX1_uc010pkw.1_Missense_Mutation_p.E111K NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 221 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 GAGCACGTGCGAGGCGGTGAT 0.612 NaN T TCF3|EWSR1 pre B-ALL|myoepithelioma 0 0 0 0.004482 0 8 112 PAPPA2 60676 broad.mit.edu 37 1 176564283 176564283 + Nonsense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:176564283G>T uc001gkz.2 + 3 2707 c.1543G>T c.(1543-1545)GGA>TGA p.G515* PAPPA2_uc001gky.1_Nonsense_Mutation_p.G515*|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 515 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CCAGTACAATGGATACTGGCC 0.537 NaN 1 0 5.50884e-06 0.013537 5.74326e-06 13 118 PAPPA2 60676 broad.mit.edu 37 1 176659424 176659424 + Silent SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:176659424A>G uc001gkz.2 + 5 3453 c.2289A>G c.(2287-2289)CCA>CCG p.P763P PAPPA2_uc001gky.1_Silent_p.P763P|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 763 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 AGACAGTGCCATCCATGGAAA 0.552 NaN 0 0 0 0.008871 0 19 339 ZBTB41 360023 broad.mit.edu 37 1 197160945 197160945 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:197160945G>C uc001gtx.1 - 2 1274 c.1205C>G c.(1204-1206)TCT>TGT p.S402C ZBTB41_uc009wyz.1_RNA NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 402 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 AGTTAGGTTAGACTTTGTTGA 0.378 NaN 0 0 0 0.006214 0 10 28 KDM5B 10765 broad.mit.edu 37 1 202702685 202702685 + Silent SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:202702685T>A uc001gyf.2 - 23 3869 c.3753A>T c.(3751-3753)GCA>GCT p.A1251A KDM5B_uc009xag.2_Silent_p.A1287A|KDM5B_uc001gyg.1_Silent_p.A1093A NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 1251 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 TATATCGAAGTGCATCTCCCT 0.512 NaN 0 0 0 0.016723 0 14 57 CUBN 8029 broad.mit.edu 37 10 16990556 16990556 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:16990556G>A uc001ioo.2 - 35 5182 c.5130C>T c.(5128-5130)AGC>AGT p.S1710S NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1710 CUB 11. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCGTCAGGGCGCTGCTGAAGG 0.512 NaN 0 0 0 0.020292 0 15 25 ZNF33B 7582 broad.mit.edu 37 10 43088096 43088096 + Nonsense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:43088096G>A uc001jaf.1 - 5 2417 c.2302C>T c.(2302-2304)CAG>TAG p.Q768* ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Nonsense_Mutation_p.Q656*|ZNF33B_uc001jad.2_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN zinc finger protein 33B 768 C2H2-type 16. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TGTGTTCTCTGATGTACAATG 0.398 NaN 0 0 0 0.021523 0 26 175 CSTF2T 23283 broad.mit.edu 37 10 53457995 53457995 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:53457995C>G uc001jjp.2 - 1 1361 c.1315G>C c.(1315-1317)GAG>CAG p.E439Q PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron NM_015235 NP_056050 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 439 9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.|1-5; approximate. mRNA processing nucleus nucleotide binding|RNA binding ovary(1) 1 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) GCACAGGTCTCCATTCCTCTC 0.537 NaN 0 0 0 0.007413 0 19 66 FAM13C 220965 broad.mit.edu 37 10 61028376 61028376 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:61028376G>A uc001jkn.2 - 9 1013 c.879C>T c.(877-879)ATC>ATT p.I293I FAM13C_uc001jko.2_Silent_p.I293I|FAM13C_uc010qid.1_Silent_p.I210I|FAM13C_uc010qie.1_Silent_p.I210I|FAM13C_uc010qif.1_Silent_p.I315I|FAM13C_uc001jkp.2_Silent_p.I210I NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 293 ovary(2) 2 TGAGGCTCTGGATGTGCTTGG 0.498 NaN 0 0 0 0.008291 0 11 24 PBLD 64081 broad.mit.edu 37 10 70048284 70048284 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:70048284C>G uc001jns.1 - 8 850 c.647G>C c.(646-648)AGA>ACA p.R216T PBLD_uc001jnr.1_Missense_Mutation_p.R183T|PBLD_uc001jnt.1_Missense_Mutation_p.R216T|PBLD_uc001jnu.1_Missense_Mutation_p.R216T|PBLD_uc001jnv.1_3'UTR NM_022129 NP_071412 P30039 PBLD_HUMAN MAWD binding protein isoform a 216 biosynthetic process isomerase activity skin(2)|ovary(1) 3 TGCAAAATATCTTGAGTAAAA 0.468 NaN 0 0 0 0.003163 0 16 50 ZMIZ1 57178 broad.mit.edu 37 10 81063832 81063832 + Missense_Mutation SNP A A C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:81063832A>C uc001kaf.2 + 19 2758 c.2186A>C c.(2185-2187)GAT>GCT p.D729A ZMIZ1_uc001kag.2_Missense_Mutation_p.D605A|ZMIZ1_uc010qlq.1_5'Flank NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 729 SP-RING-type. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) AACGGGGAGGATGGGGTGGAG 0.617 NaN 0 0 0 0.006214 0 10 36 CDHR1 92211 broad.mit.edu 37 10 85973956 85973956 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:85973956C>G uc001kcv.2 + 17 2159 c.2159C>G c.(2158-2160)TCC>TGC p.S720C CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.S424C|CDHR1_uc001kcx.2_Missense_Mutation_p.S34C NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 720 Helical; (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 GTCCTCATCTCCACCGCCACC 0.637 NaN 0 0 0 0.006122 0 18 59 IFIT3 3437 broad.mit.edu 37 10 91099693 91099693 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:91099693G>A uc001kgf.2 + 2 1510 c.1281G>A c.(1279-1281)CAG>CAA p.Q427Q LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Silent_p.Q427Q NM_001549 NP_001540 O14879 IFIT3_HUMAN interferon-induced protein with 427 TPR 7. type I interferon-mediated signaling pathway protein binding central_nervous_system(1) 1 TTCATAAGCAGAATGGAGATC 0.433 NaN 0 0 0 0.00308 0 8 51 C10orf76 79591 broad.mit.edu 37 10 103649229 103649229 + Silent SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:103649229A>G uc009xwy.1 - 24 1902 c.1800T>C c.(1798-1800)TTT>TTC p.F600F C10orf76_uc009xwx.1_RNA NM_024541 NP_078817 Q5T2E6 CJ076_HUMAN hypothetical protein LOC79591 600 integral to membrane 0 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) TTTTGGGGTTAAAGTGGTTGA 0.428 NaN 0 0 0 0.01441 0 51 180 PSD 5662 broad.mit.edu 37 10 104174879 104174879 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:104174879C>T uc001kvg.1 - 4 1392 c.865G>A c.(865-867)GAC>AAC p.D289N PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.D289N NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 289 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GGCACCGTGTCCAGGTCTGTC 0.672 NaN 0 0 0 0.00308 0 8 43 TRUB1 142940 broad.mit.edu 37 10 116732026 116732026 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:116732026C>T uc001lcd.2 + 6 790 c.729C>T c.(727-729)TTC>TTT p.F243F TRUB1_uc010qsl.1_Silent_p.F145F NM_139169 NP_631908 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase homolog 1 243 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding 0 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) CACCATTTTTCACATTAGGTA 0.358 NaN 0 0 0 0.009535 0 30 52 PNLIP 5406 broad.mit.edu 37 10 118306905 118306905 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:118306905A>G uc001lcm.2 + 3 189 c.146A>G c.(145-147)AAA>AGA p.K49R NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 49 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TGGTCTCCAAAAGATGTCAAC 0.398 NaN 0 0 0 0.008291 0 11 65 WDR11 55717 broad.mit.edu 37 10 122626260 122626260 + Silent SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:122626260C>A uc010qtf.1 + 8 1412 c.1174C>A c.(1174-1176)CGA>AGA p.R392R WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 392 WD 3. integral to membrane 0 AGTTTGTAATCGAAATTCACG 0.393 NaN 1 0 2.81731e-10 0.010818 3.06774e-10 31 56 C10orf88 80007 broad.mit.edu 37 10 124708192 124708192 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:124708192C>T uc001lgw.2 - 4 846 c.621G>A c.(619-621)TTG>TTA p.L207L C10orf88_uc001lgx.2_Silent_p.L109L NM_024942 NP_079218 Q9H8K7 CJ088_HUMAN hypothetical protein LOC80007 207 0 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) CCATATCCATCAACTGCTGAG 0.413 NaN 0 0 0 0.006214 0 10 42 MGMT 4255 broad.mit.edu 37 10 131565235 131565235 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr10:131565235G>T uc001lkh.2 + 5 717 c.691G>T c.(691-693)GGC>TGC p.G231C NM_002412 NP_002403 P16455 MGMT_HUMAN O-6-methylguanine-DNA methyltransferase 200 ovary(1)|breast(1) 2 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) AGCTACCTCGGGCTCCCCGCC 0.637 NaN Direct_reversal_of_damage 1 0 5.18039e-06 0.00308 5.4173e-06 8 17 TRIM68 55128 broad.mit.edu 37 11 4623543 4623543 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:4623543C>T uc001lzf.1 - 4 860 c.622G>A c.(622-624)GAG>AAG p.E208K TRIM68_uc001lzg.1_5'UTR|TRIM68_uc010qyj.1_RNA|TRIM68_uc009yek.1_Missense_Mutation_p.E208K NM_018073 NP_060543 Q6AZZ1 TRI68_HUMAN ring finger protein 137 208 Potential. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) GCTGCTACCTCTGCCCCCAGC 0.537 NaN 0 0 0 0.00499 0 18 24 OR51G1 79324 broad.mit.edu 37 11 4944672 4944672 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:4944672G>T uc010qyr.1 - 1 898 c.898C>A c.(898-900)CAA>AAA p.Q300K NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGCGAATTTGCTTGGTCTTG 0.423 NaN 1 0 0.000308642 0.003163 0.000316013 16 42 MICAL2 9645 broad.mit.edu 37 11 12231097 12231097 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:12231097G>C uc001mjz.2 + 6 931 c.643G>C c.(643-645)GAG>CAG p.E215Q MICAL2_uc010rch.1_Missense_Mutation_p.E215Q|MICAL2_uc001mka.2_Missense_Mutation_p.E215Q|MICAL2_uc010rci.1_Missense_Mutation_p.E215Q|MICAL2_uc001mkb.2_Missense_Mutation_p.E215Q|MICAL2_uc001mkc.2_Missense_Mutation_p.E215Q|MICAL2_uc001mkd.2_Missense_Mutation_p.E44Q NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 215 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) GTCGGAGTTTGAGTTTGACGT 0.532 NaN 0 0 0 0.00632 0 29 33 LGR4 55366 broad.mit.edu 37 11 27405924 27405924 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:27405924C>G uc001mrj.3 - 6 1133 c.648G>C c.(646-648)CTG>CTC p.L216L LGR4_uc001mrk.3_Silent_p.L192L NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN leucine-rich repeat-containing G protein-coupled 216 LRR 7.|Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity ovary(1) 1 AGTGTTGACTCAGGCTTCTAA 0.323 NaN 0 0 0 0.010818 0 32 42 KCNA4 3739 broad.mit.edu 37 11 30032651 30032651 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:30032651C>G uc001msk.2 - 2 2727 c.1575G>C c.(1573-1575)GTG>GTC p.V525V NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 525 Selectivity filter (By similarity). voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CCCCATAGCCCACAGTTGTCA 0.517 NaN 0 0 0 0.016723 0 14 40 TRAF6 7189 broad.mit.edu 37 11 36512195 36512195 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:36512195C>T uc001mwr.1 - 8 1102 c.762G>A c.(760-762)CAG>CAA p.Q254Q TRAF6_uc001mws.1_Silent_p.Q254Q NM_145803 NP_665802 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6 254 Interaction with TAX1BP1.|TRAF-type 2. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|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 CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) AGTGATTCCTCTGCATCTAAA 0.473 NaN 0 0 0 0.00632 0 28 57 OR5D18 219438 broad.mit.edu 37 11 55587908 55587908 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:55587908C>G uc010rin.1 + 1 803 c.803C>G c.(802-804)TCC>TGC p.S268C NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 268 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) TCCAAAAACTCCAGGCACACA 0.507 NaN 0 0 0 0.008361 0 32 59 OR10AG1 282770 broad.mit.edu 37 11 55735793 55735793 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:55735793G>A uc010rit.1 - 1 147 c.147C>T c.(145-147)CCC>CCT p.P49P NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 49 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) AAAAATACATGGGAGTCTGGA 0.333 NaN 0 0 0 0.01441 0 48 54 TNKS1BP1 85456 broad.mit.edu 37 11 57069342 57069342 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:57069342G>A uc001njr.2 - 8 5222 c.4910C>T c.(4909-4911)TCG>TTG p.S1637L TNKS1BP1_uc001njp.2_Missense_Mutation_p.S209L|TNKS1BP1_uc001njq.2_Missense_Mutation_p.S210L|TNKS1BP1_uc001njs.2_Missense_Mutation_p.S1637L NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 1637 Arg/Glu/Lys-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) GGTGCCCAACGACATCCGTGT 0.582 NaN 0 0 0 0.009096 0 4 56 PRG3 10394 broad.mit.edu 37 11 57147185 57147185 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:57147185T>A uc001njv.1 - 3 267 c.157A>T c.(157-159)ACG>TCG p.T53S NM_006093 NP_006084 Q9Y2Y8 PRG3_HUMAN proteoglycan 3 precursor 53 basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation sugar binding 0 ACCTCCTCCGTCAGAGCCAAG 0.562 NaN 0 0 0 0.004656 0 26 82 OR10Q1 219960 broad.mit.edu 37 11 57995510 57995510 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:57995510C>T uc010rkd.1 - 1 838 c.838G>A c.(838-840)GCG>ACG p.A280T NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) TAGACCAACGCGATTTGGCTG 0.547 NaN 0 0 0 0.014323 0 23 118 PLAC1L 219990 broad.mit.edu 37 11 59807984 59807984 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:59807984G>A uc001nol.2 + 1 237 c.52G>A c.(52-54)GAG>AAG p.E18K NM_173801 NP_776162 Q86WS3 PLACL_HUMAN placenta-specific 1-like precursor 18 extracellular region ovary(2)|skin(1) 3 GACCGGTGCTGAGAACCTCCA 0.458 NaN 0 0 0 0.012213 0 31 79 TMEM132A 54972 broad.mit.edu 37 11 60695278 60695278 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:60695278C>T uc001nqj.2 + 3 674 c.481C>T c.(481-483)CGG>TGG p.R161W TMEM132A_uc001nqi.2_Missense_Mutation_p.R161W|TMEM132A_uc001nqk.2_Missense_Mutation_p.R174W|TMEM132A_uc001nql.1_Missense_Mutation_p.R174W NM_178031 NP_821174 Q24JP5 T132A_HUMAN transmembrane protein 132A isoform b 161 Extracellular (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane skin(1) 1 GCCCTGTGCCCGGCTCCATGC 0.652 NaN 0 0 0 0.021523 0 26 45 NPAS4 266743 broad.mit.edu 37 11 66190264 66190264 + Nonsense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:66190264G>T uc001ohx.1 + 4 726 c.550G>T c.(550-552)GGA>TGA p.G184* NPAS4_uc010rpc.1_Missense_Mutation_p.Q10H NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 184 transcription, DNA-dependent DNA binding|signal transducer activity 0 CTACTGGGCAGGAAATCCCGT 0.622 NaN 1 0 2.98393e-07 0.016522 3.1984e-07 25 97 NPAS4 266743 broad.mit.edu 37 11 66191516 66191516 + Silent SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:66191516T>C uc001ohx.1 + 7 1331 c.1155T>C c.(1153-1155)TCT>TCC p.S385S NPAS4_uc010rpc.1_Silent_p.S175S NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 385 transcription, DNA-dependent DNA binding|signal transducer activity 0 GTGTTGTCTCTGCATCAGAAG 0.562 NaN 0 0 0 0.007291 0 31 193 CABP4 57010 broad.mit.edu 37 11 67222934 67222934 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:67222934C>G uc001olo.2 + 1 117 c.40C>G c.(40-42)CTG>GTG p.L14V GPR152_uc001olm.2_5'Flank|CABP4_uc001oln.2_Intron NM_145200 NP_660201 P57796 CABP4_HUMAN calcium binding protein 4 14 visual perception cytoplasm|extracellular region|terminal button calcium ion binding 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GGGCCCAAATCTGGCCATTGG 0.632 NaN 0 0 0 0.001168 0 5 5 UNC93B1 81622 broad.mit.edu 37 11 67766749 67766749 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:67766749G>C uc001omw.1 - 5 661 c.581C>G c.(580-582)TCC>TGC p.S194C NM_030930 NP_112192 Q9H1C4 UN93B_HUMAN unc-93 homolog B1 194 innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome 0 CTTGTAGTGGGAGTACTCATG 0.612 NaN 0 0 0 0.004007 0 17 17 ARHGEF17 9828 broad.mit.edu 37 11 73066945 73066945 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:73066945G>A uc001otu.2 + 5 3631 c.3610G>A c.(3610-3612)GAC>AAC p.D1204N NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1204 DH. 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 0 GGCGCTGTCTGACCTCATGAT 0.567 NaN 0 0 0 0.010818 0 28 99 ARHGEF17 9828 broad.mit.edu 37 11 73067780 73067780 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:73067780G>A uc001otu.2 + 7 3888 c.3867G>A c.(3865-3867)CTG>CTA p.L1289L NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1289 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 0 GGCGGTTCCTGAGACAGGAGA 0.552 NaN 0 0 0 0.004482 0 7 35 UVRAG 7405 broad.mit.edu 37 11 75852128 75852128 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:75852128G>A uc001oxc.2 + 15 2012 c.1771G>A c.(1771-1773)GGG>AGG p.G591R UVRAG_uc010rrw.1_Missense_Mutation_p.G490R|UVRAG_uc001oxd.2_Missense_Mutation_p.G219R|UVRAG_uc010rrx.1_Missense_Mutation_p.G219R|UVRAG_uc010rry.1_Missense_Mutation_p.G147R NM_003369 NP_003360 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 591 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding skin(4)|lung(2) 6 AGCCCTCTCCGGGCACCGGGC 0.577 NaN 0 0 0 0.004482 0 9 28 EED 8726 broad.mit.edu 37 11 85977208 85977209 + Missense_Mutation DNP GA GA CT TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:85977208_85977209GA>CT uc001pbp.2 + 8 1267_1268 c.810_811GA>CT c.(808-813)ATGATG>ATCTTG p.270_271MM>IL EED_uc010rtm.1_Missense_Mutation_p.270_271MM>IL|EED_uc001pbq.2_Missense_Mutation_p.270_271MM>IL|EED_uc001pbr.2_Missense_Mutation_p.270_271MM>IL|EED_uc001pbs.2_Intron|EED_uc010rtn.1_RNA NM_003797 NP_003788 O75530 EED_HUMAN embryonic ectoderm development isoform a 270_271 Interaction with EZH2 (By similarity).|WD 4.|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding skin(1)|pancreas(1) 2 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) CAAAGAGAATGATGAATGCAAT 0.302 NaN 0 0 0 0.004672 0 13 85 TRPC6 7225 broad.mit.edu 37 11 101347251 101347251 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:101347251C>T uc001pgk.3 - 6 1950 c.1525G>A c.(1525-1527)GAA>AAA p.E509K TRPC6_uc009ywy.2_Missense_Mutation_p.E393K|TRPC6_uc009ywz.1_Missense_Mutation_p.E454K NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 509 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TCTTTACATTCAGCCCATATC 0.378 NaN 0 0 0 0.021523 0 25 27 OR8A1 390275 broad.mit.edu 37 11 124440753 124440753 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:124440753C>T uc010san.1 + 1 789 c.789C>T c.(787-789)GCC>GCT p.A263A NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 263 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) ACCTTGCAGCCGTGGGAATGT 0.507 NaN 0 0 0 0.007291 0 28 31 RPUSD4 84881 broad.mit.edu 37 11 126081382 126081382 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:126081382C>T uc001qde.2 - 1 206 c.152G>A c.(151-153)CGA>CAA p.R51Q FAM118B_uc001qdf.2_5'Flank|FAM118B_uc009zca.2_5'Flank|FAM118B_uc001qdg.2_5'Flank|RPUSD4_uc009zbz.2_Missense_Mutation_p.R51Q|RPUSD4_uc009zby.2_RNA NM_032795 NP_116184 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 51 Potential. pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1) 1 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) TTTCTGGGCTCGGAGCTTCTC 0.567 NaN 0 0 0 0.01441 0 61 80 ATF7IP 55729 broad.mit.edu 37 12 14589126 14589126 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:14589126G>A uc001rbw.2 + 4 1890 c.1732G>A c.(1732-1734)GAG>AAG p.E578K ATF7IP_uc010shs.1_Missense_Mutation_p.E577K|ATF7IP_uc001rbu.2_Missense_Mutation_p.E578K|ATF7IP_uc001rbv.1_Missense_Mutation_p.E577K|ATF7IP_uc001rbx.2_Missense_Mutation_p.E577K|ATF7IP_uc010sht.1_Missense_Mutation_p.E578K|ATF7IP_uc001rby.3_Missense_Mutation_p.E578K|ATF7IP_uc001rca.2_Missense_Mutation_p.E578K NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 578 Interaction with SETDB1.|Glu-rich. 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 lung(3)|ovary(1)|skin(1) 5 AGAAGAATATGAGGCAGAATT 0.323 NaN 0 0 0 0.012213 0 31 51 SLCO1B3 28234 broad.mit.edu 37 12 21229431 21229431 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:21229431C>T uc010sil.1 + 15 2041 c.1976C>T c.(1975-1977)ACG>ATG p.T659M LST-3TM12_uc010sim.1_Missense_Mutation_p.T598M|LST-3TM12_uc010sin.1_Missense_Mutation_p.T551M Q9NPD5 SO1B3_HUMAN SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) ATTGATACAACGTGTATGAAG 0.363 NaN 0 0 0 0.007291 0 29 84 KIAA0528 9847 broad.mit.edu 37 12 22646159 22646159 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:22646159G>C uc001rfq.2 - 11 1488 c.1260C>G c.(1258-1260)ATC>ATG p.I420M KIAA0528_uc010sir.1_Missense_Mutation_p.I235M|KIAA0528_uc010sis.1_Missense_Mutation_p.I420M|KIAA0528_uc010sit.1_Missense_Mutation_p.I422M|KIAA0528_uc010siu.1_Missense_Mutation_p.I420M|KIAA0528_uc001rfr.2_Missense_Mutation_p.I411M|KIAA0528_uc009ziy.1_Missense_Mutation_p.I422M NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 420 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 TCATTTACCAGATGCTAGTTG 0.363 NaN 0 0 0 0.004007 0 17 92 PPFIBP1 8496 broad.mit.edu 37 12 27787986 27787986 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:27787986T>A uc001ric.1 + 4 585 c.208T>A c.(208-210)TTG>ATG p.L70M PPFIBP1_uc001rhy.1_Missense_Mutation_p.L70M|PPFIBP1_uc001rhz.1_Missense_Mutation_p.L70M|PPFIBP1_uc010sjr.1_Intron|PPFIBP1_uc001rib.1_Missense_Mutation_p.L70M|PPFIBP1_uc001ria.2_Missense_Mutation_p.L70M|PPFIBP1_uc001rid.1_Intron NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 70 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) GAAAGAAGGCTTGAGATGCCA 0.458 NaN 0 0 0 0.020292 0 13 64 CNTN1 1272 broad.mit.edu 37 12 41421762 41421762 + Silent SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:41421762G>T uc001rmm.1 + 22 2927 c.2814G>T c.(2812-2814)ACG>ACT p.T938T CNTN1_uc001rmn.1_Silent_p.T927T NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 938 Fibronectin type-III 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CTACAGTGACGGGATATAAGG 0.348 NaN 1 0 1.5739e-10 0.004007 1.71926e-10 16 37 ARID2 196528 broad.mit.edu 37 12 46244661 46244661 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:46244661C>G uc001ros.1 + 15 2755 c.2755C>G c.(2755-2757)CAG>GAG p.Q919E ARID2_uc001ror.2_Missense_Mutation_p.Q919E|ARID2_uc009zkg.1_Missense_Mutation_p.Q375E|ARID2_uc009zkh.1_Missense_Mutation_p.Q546E|ARID2_uc001rou.1_Missense_Mutation_p.Q253E NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 919 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 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) TCAACAACCACAGCAGCCAAC 0.473 NaN 0 0 0 0.006122 0 17 123 CCNT1 904 broad.mit.edu 37 12 49087819 49087819 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:49087819C>A uc001rse.1 - 9 1501 c.1178G>T c.(1177-1179)CGC>CTC p.R393L LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.R108L NM_001240 NP_001231 O60563 CCNT1_HUMAN cyclin T1 393 Potential. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding ovary(3)|lung(1)|breast(1)|skin(1) 6 ATGCTTCGCGCGGTATTCTTT 0.448 NaN 1 0 3.99451e-17 0.009535 4.49218e-17 32 160 KRT5 3852 broad.mit.edu 37 12 52910468 52910468 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:52910468G>A uc001san.2 - 7 1555 c.1392C>T c.(1390-1392)GAC>GAT p.D464D KRT5_uc009zmh.2_Silent_p.D464D NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 464 Rod.|Coil 2. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) CGATCTCCACGTCCAGGGCCA 0.602 NaN 0 0 0 0.007291 0 30 105 ERBB3 2065 broad.mit.edu 37 12 56477672 56477672 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:56477672C>T uc001sjh.2 + 2 413 c.220C>T c.(220-222)CTC>TTC p.L74F ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.L15F|ERBB3_uc001sjg.2_Missense_Mutation_p.L74F NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 74 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CAATGCCGACCTCTCCTTCCT 0.537 NaN 0 0 0 0.005443 0 27 71 LRP1 4035 broad.mit.edu 37 12 57548325 57548325 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:57548325G>T uc001snd.2 + 8 1534 c.1068G>T c.(1066-1068)CAG>CAT p.Q356H LRP1_uc001snc.1_Missense_Mutation_p.Q356H NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 356 LDL-receptor class B 2.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGGATGGGCAGAACCGCACCA 0.527 NaN 1 0 2.17888e-05 0.006214 2.25107e-05 10 27 CYP27B1 1594 broad.mit.edu 37 12 58158842 58158842 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:58158842C>A uc001spz.1 - 4 894 c.742G>T c.(742-744)GGG>TGG p.G248W CYP27B1_uc001sqa.1_Missense_Mutation_p.G13W|CYP27B1_uc001sqb.1_Missense_Mutation_p.W128L|CYP27B1_uc001sqc.1_Missense_Mutation_p.W128L NM_000785 NP_000776 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, 248 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3) 3 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) CCCCAGGGCCCAGGCACAAGG 0.622 NaN OREG0021953 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 7.93312e-07 0.020292 8.4505e-07 13 54 SLC6A15 55117 broad.mit.edu 37 12 85266933 85266933 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:85266933C>A uc001szv.2 - 7 1535 c.1042G>T c.(1042-1044)GCA>TCA p.A348S SLC6A15_uc010sul.1_Missense_Mutation_p.A241S|SLC6A15_uc001szw.1_Missense_Mutation_p.A56S NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 348 Helical; Name=7; (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 ACCAATGTTGCCAGGACAGAA 0.393 NaN 1 0 0.00307968 0.00308 0.00313451 8 56 RASSF9 9182 broad.mit.edu 37 12 86199049 86199049 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:86199049G>T uc001taf.1 - 2 1078 c.739C>A c.(739-741)CTA>ATA p.L247I NM_005447 NP_005438 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family 247 Potential. endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity ovary(1) 1 TGCAAGTCTAGATTTTGCTCA 0.403 NaN 1 0 1.01871e-10 0.008871 1.11635e-10 19 85 NTS 4922 broad.mit.edu 37 12 86272172 86272172 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:86272172G>T uc001tag.2 + 3 292 c.185G>T c.(184-186)TGC>TTC p.C62F NM_006183 NP_006174 P30990 NEUT_HUMAN neurotensin/neuromedin N preproprotein 62 regulation of blood vessel size|signal transduction extracellular region|soluble fraction|transport vesicle neuropeptide hormone activity 0 CTAAATGTTTGCAGTCTTGTA 0.358 NaN 1 0 1.50039e-11 0.012319 1.65477e-11 21 107 TCP11L2 255394 broad.mit.edu 37 12 106712230 106712230 + Silent SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:106712230A>G uc001tln.2 + 4 576 c.402A>G c.(400-402)GAA>GAG p.E134E TCP11L2_uc001tll.2_Silent_p.E134E|TCP11L2_uc001tlm.2_Silent_p.E134E NM_152772 NP_689985 Q8N4U5 T11L2_HUMAN t-complex 11 (mouse) like 2 134 ovary(3) 3 AACTGTTTGAAGAAATCAGAG 0.328 NaN 0 0 0 0.003163 0 15 46 ACACB 32 broad.mit.edu 37 12 109654448 109654448 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:109654448A>G uc001tob.2 + 23 3495 c.3376A>G c.(3376-3378)ATG>GTG p.M1126V ACACB_uc001toc.2_Missense_Mutation_p.M1126V NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1126 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) CCGCGGCTATATGAAAACAGT 0.473 NaN 0 0 0 0.006214 0 10 32 RASAL1 8437 broad.mit.edu 37 12 113554886 113554886 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:113554886C>T uc001tum.1 - 9 1016 c.723G>A c.(721-723)GAG>GAA p.E241E RASAL1_uc010syp.1_Silent_p.E241E|RASAL1_uc001tul.2_Silent_p.E241E|RASAL1_uc001tun.1_Silent_p.E241E|RASAL1_uc010syq.1_Silent_p.E241E|RASAL1_uc001tuo.3_Silent_p.E241E|RASAL1_uc010syr.1_Silent_p.E241E NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 241 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 ACCCAGAATCCTCCTCGGCTC 0.607 NaN 0 0 0 0.001984 0 6 24 TBX5 6910 broad.mit.edu 37 12 114823367 114823367 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:114823367C>T uc001tvo.2 - 7 1164 c.669G>A c.(667-669)ACG>ACA p.T223T TBX5_uc001tvp.2_Silent_p.T223T|TBX5_uc001tvq.2_Silent_p.T173T|TBX5_uc010syv.1_Silent_p.T223T NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 223 T-box. cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TCTTTAATTGCGTGATCTGAA 0.418 NaN 0 0 0 0.014758 0 5 23 DNAH10 196385 broad.mit.edu 37 12 124352470 124352470 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:124352470G>T uc001uft.3 + 42 6994 c.6969G>T c.(6967-6969)ATG>ATT p.M2323I NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2323 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TAGCCAAGATGTTGGATGCGT 0.512 NaN 1 0 0.00010058 0.013537 0.0001036 11 14 FAM101A 144347 broad.mit.edu 37 12 124798930 124798930 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:124798930C>G uc001ugd.1 + 3 510 c.267C>G c.(265-267)ATC>ATG p.I89M FAM101A_uc001uge.1_Missense_Mutation_p.I89M NM_181709 NP_859060 Q6ZTI6 F101A_HUMAN hypothetical protein LOC144347 170 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059) CCACCATCATCTTCCCCAAGC 0.687 NaN 0 0 0 0.008361 0 28 40 TMEM132D 121256 broad.mit.edu 37 12 130184385 130184385 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr12:130184385C>G uc009zyl.1 - 2 1266 c.938G>C c.(937-939)AGA>ACA p.R313T NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 313 Extracellular (Potential). integral to membrane p.R313G(1) ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) AGTGGAATTTCTGGAGATGGA 0.502 NaN 0 0 0 0.00308 0 6 39 N4BP2L2 10443 broad.mit.edu 37 13 33018121 33018121 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr13:33018121C>G uc010abe.1 - 7 575 c.553G>C c.(553-555)GAT>CAT p.D185H N4BP2L2_uc001uug.2_Missense_Mutation_p.D68H|N4BP2L2_uc010abd.1_Missense_Mutation_p.D98H|N4BP2L2_uc001uuh.2_Missense_Mutation_p.D16H|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.D170H NM_033111 NP_149102 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) GGGTCCTGATCTCCCGGTGTA 0.383 NaN 0 0 0 0.009096 0 4 9 KBTBD7 84078 broad.mit.edu 37 13 41766515 41766515 + Nonsense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr13:41766515G>A uc001uxw.1 - 1 2188 c.1879C>T c.(1879-1881)CAG>TAG p.Q627* uc001uxv.1_Intron NM_032138 NP_115514 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 627 protein binding ovary(1) 1 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) ATAAAACTCTGACCAGGTTCA 0.438 NaN 0 0 0 0.009535 0 33 74 SLC15A1 6564 broad.mit.edu 37 13 99337111 99337111 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr13:99337111A>G uc001vno.2 - 23 2071 c.1994T>C c.(1993-1995)ATC>ACC p.I665T NM_005073 NP_005064 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide 665 Helical; (Potential). digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity ovary(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) CCGAGCCATGATGGCAAAAAT 0.413 NaN 0 0 0 0.001984 0 6 45 MYO16 23026 broad.mit.edu 37 13 109817341 109817341 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr13:109817341G>A uc001vqt.1 + 33 5317 c.5191G>A c.(5191-5193)GGA>AGA p.G1731R MYO16_uc010agk.1_Missense_Mutation_p.G1753R NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1731 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) AAATAACCATGGAATTCAGTT 0.338 NaN 0 0 0 0.001168 0 5 69 CDC16 8881 broad.mit.edu 37 13 115037904 115037904 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr13:115037904G>C uc001vuk.1 + 18 2047 c.1849G>C c.(1849-1851)GAC>CAC p.D617H CDC16_uc001vul.1_Missense_Mutation_p.D617H|CDC16_uc001vum.1_Missense_Mutation_p.D523H|CDC16_uc001vun.1_Missense_Mutation_p.D616H|CDC16_uc001vuo.1_Missense_Mutation_p.D565H NM_003903 NP_003894 Q13042 CDC16_HUMAN anaphase-promoting complex, subunit 6 617 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule binding 0 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) ATCTATGTCAGACCACAGCAC 0.453 NaN 0 0 0 0.005524 0 36 17 OR4K17 390436 broad.mit.edu 37 14 20586060 20586060 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr14:20586060C>T uc001vwo.1 + 1 495 c.495C>T c.(493-495)ACC>ACT p.T165T NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) ACTACATGACCATCATGAACA 0.453 NaN 0 0 0 0.008291 0 11 95 OR11H4 390442 broad.mit.edu 37 14 20711554 20711554 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr14:20711554G>T uc010tld.1 + 1 604 c.604G>T c.(604-606)GCT>TCT p.A202S NM_001004479 NP_001004479 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, 202 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) CTGTGCCCCAGCTCCCATAAC 0.433 NaN 1 0 2.01871e-26 0.01441 2.28521e-26 66 98 FUT8 2530 broad.mit.edu 37 14 66136117 66136117 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr14:66136117A>G uc001xin.2 + 7 1951 c.754A>G c.(754-756)ACT>GCT p.T252A FUT8_uc001xio.2_Missense_Mutation_p.T252A|FUT8_uc010tsp.1_Missense_Mutation_p.T89A|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.T252A|FUT8_uc001xiq.2_Missense_Mutation_p.T123A|FUT8_uc001xis.2_5'Flank NM_178155 NP_835368 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 isoform a 252 Lumenal (Potential). in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding ovary(1) 1 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) GCGCTATGCTACTGGTGGATG 0.502 NaN 0 0 0 0.006214 0 10 48 OR4M2 390538 broad.mit.edu 37 15 22368693 22368693 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr15:22368693C>A uc010tzu.1 + 1 118 c.118C>A c.(118-120)CCA>ACA p.P40T LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GTTCATCCTACCAGGAAATAT 0.418 NaN 1 0 1.62957e-23 0.00874 1.83863e-23 44 389 C15orf2 23742 broad.mit.edu 37 15 24921968 24921968 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr15:24921968C>G uc001ywo.2 + 1 1428 c.954C>G c.(952-954)CCC>CCG p.P318P NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 318 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CTGCTCCTCCCAGAGCTGCCC 0.587 NaN 0 0 0 0.001168 0 6 50 MAPKBP1 23005 broad.mit.edu 37 15 42113042 42113042 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr15:42113042G>A uc001zok.3 + 24 2798 c.2512G>A c.(2512-2514)GTG>ATG p.V838M MAPKBP1_uc001zoj.3_Missense_Mutation_p.V832M|MAPKBP1_uc010bcj.2_Missense_Mutation_p.V339M|MAPKBP1_uc010bci.2_Missense_Mutation_p.V832M|MAPKBP1_uc010udb.1_Missense_Mutation_p.V671M|MAPKBP1_uc010bck.2_Missense_Mutation_p.V49M|MAPKBP1_uc010bcl.2_Missense_Mutation_p.V339M NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 838 central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) ACAGGAGTCCGTGGGGTTCCT 0.488 NaN 0 0 0 0.001168 0 6 13 SCAPER 49855 broad.mit.edu 37 15 76995205 76995205 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr15:76995205G>C uc002bby.2 - 18 2445 c.2386C>G c.(2386-2388)CTC>GTC p.L796V SCAPER_uc010bkr.2_Missense_Mutation_p.L104V|SCAPER_uc002bbx.2_Missense_Mutation_p.L550V|SCAPER_uc002bbz.1_Missense_Mutation_p.L667V|SCAPER_uc002bca.1_Missense_Mutation_p.L661V|SCAPER_uc002bcb.1_Missense_Mutation_p.L802V NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 795 C2H2-type. endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 ACATTGCAGAGAGAACACTGC 0.358 NaN 0 0 0 0.00499 0 17 70 ALPK3 57538 broad.mit.edu 37 15 85382285 85382285 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr15:85382285G>A uc002ble.2 + 4 1152 c.985G>A c.(985-987)GAG>AAG p.E329K NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 329 Ig-like 1. heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCCAAAATATGAGATCACTCA 0.572 NaN 0 0 0 0.010729 0 12 10 CHD2 1106 broad.mit.edu 37 15 93563489 93563489 + Splice_Site SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr15:93563489G>A uc002bsp.2 + 38 5728 c.5153_splice c.e38+1 p.R1718_splice CHD2_uc002bso.1_Silent_p.R1718R NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) ATTATGACAGGTATGCAAAAG 0.463 NaN 0 0 0 0.00499 0 17 26 PCSK6 5046 broad.mit.edu 37 15 101938656 101938656 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr15:101938656C>A uc002bwy.2 - 8 1263 c.949G>T c.(949-951)GGG>TGG p.G317W PCSK6_uc010bpd.2_Missense_Mutation_p.G187W|PCSK6_uc010bpe.2_Missense_Mutation_p.G317W|PCSK6_uc002bxa.2_Missense_Mutation_p.G317W|PCSK6_uc002bxb.2_Missense_Mutation_p.G317W|PCSK6_uc002bxc.1_Missense_Mutation_p.G317W|PCSK6_uc002bxd.1_Missense_Mutation_p.G317W|PCSK6_uc002bxe.2_Missense_Mutation_p.G317W|PCSK6_uc002bxg.1_Missense_Mutation_p.G317W NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 317 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CGGCCGGGCCCGTCCACCGTC 0.582 NaN 1 0 6.94344e-10 0.006122 7.53671e-10 15 111 SSTR5 6755 broad.mit.edu 37 16 1129228 1129228 + Silent SNP C C T rs35742768 byFrequency TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr16:1129228C>T uc002ckq.2 + 1 448 c.360C>T c.(358-360)GGC>GGT p.G120G LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank NM_001053 NP_001044 P35346 SSR5_HUMAN somatostatin receptor 5 120 Helical; Name=3; (Potential). negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity lung(1) 1 Hepatocellular(780;0.00369) Octreotide(DB00104) CGCTGGACGGCGTCAACCAGT 0.677 NaN 0 0 0 0.014758 0 4 38 RPL3L 6123 broad.mit.edu 37 16 1996698 1996698 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr16:1996698C>T uc002cnh.2 - 7 926 c.879G>A c.(877-879)ATG>ATA p.M293I NM_005061 NP_005052 Q92901 RL3L_HUMAN ribosomal protein L3-like 293 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome 0 TCCCGTCCTCCATGTGCGGGC 0.652 NaN 0 0 0 0.004482 0 9 30 MEFV 4210 broad.mit.edu 37 16 3298929 3298929 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr16:3298929C>G uc002cun.1 - 4 1376 c.1336G>C c.(1336-1338)GAG>CAG p.E446Q NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 446 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) ACTGCCTTCTCCTCCCCATAG 0.532 NaN 0 0 0 0.007413 0 20 128 ZC3H7A 29066 broad.mit.edu 37 16 11850213 11850213 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr16:11850213C>T uc002dbk.2 - 20 2640 c.2442G>A c.(2440-2442)GAG>GAA p.E814E ZC3H7A_uc002dbi.2_Silent_p.E2E|ZC3H7A_uc002dbj.2_RNA|ZC3H7A_uc002dbl.2_Silent_p.E814E|ZC3H7A_uc002dbm.1_Silent_p.E724E NM_014153 NP_054872 Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 814 nucleus nucleic acid binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 CGTAAAATTGCTCCATATCTT 0.338 NaN 0 0 0 0.016723 0 14 35 ZP2 7783 broad.mit.edu 37 16 21211121 21211121 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr16:21211121C>T uc002dii.2 - 15 1773 c.1773G>A c.(1771-1773)CAG>CAA p.Q591Q ZP2_uc010bwn.1_Silent_p.Q621Q NM_003460 NP_003451 Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 preproprotein 591 Extracellular (Potential).|ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(48;0.0573) TGTCAAACCTCTGATAGTGAT 0.502 NaN 0 0 0 0.014323 0 22 39 DPEP2 64174 broad.mit.edu 37 16 68021779 68021779 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr16:68021779C>T uc010cey.2 - 9 1346 c.1182G>A c.(1180-1182)CTG>CTA p.L394L DPEP2_uc002evd.3_Silent_p.L399L|DPEP2_uc002eve.2_Silent_p.L394L|DPEP2_uc002evf.2_RNA NM_022355 NP_071750 Q9H4A9 DPEP2_HUMAN dipeptidase 2 precursor 394 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) TGAAGACCCGCAGCAGGTTTC 0.567 NaN 0 0 0 0.009535 0 30 186 TP53 7157 broad.mit.edu 37 17 7577559 7577559 + Missense_Mutation SNP G G A rs28934573 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:7577559G>A uc002gim.2 - 7 916 c.722C>T c.(721-723)TCC>TTC p.S241F TP53_uc002gig.1_Missense_Mutation_p.S241F|TP53_uc002gih.2_Missense_Mutation_p.S241F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.S109F|TP53_uc010cng.1_Missense_Mutation_p.S109F|TP53_uc002gii.1_Missense_Mutation_p.S109F|TP53_uc010cnh.1_Missense_Mutation_p.S241F|TP53_uc010cni.1_Missense_Mutation_p.S241F|TP53_uc002gij.2_Missense_Mutation_p.S241F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.S148F|TP53_uc002gio.2_Missense_Mutation_p.S109F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 241 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). S -> A (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation). 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S241F(73)|p.S241C(24)|p.S241fs*6(8)|p.0?(7)|p.S241Y(7)|p.C242fs*5(6)|p.S241A(6)|p.S241del(5)|p.S241T(5)|p.N239_C242delNSSC(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(2)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.S241_G245delSCMGG(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.N239_C242del(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 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) GCCCATGCAGGAACTGTTACA 0.572 111 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 Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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) 0 0 0 0.013537 0 13 21 MYH13 8735 broad.mit.edu 37 17 10216603 10216603 + Nonsense_Mutation SNP A A T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:10216603A>T uc002gmk.1 - 30 4143 c.4053T>A c.(4051-4053)TAT>TAA p.Y1351* NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1351 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 GCTCCTCCTCATACTGTTCCC 0.602 NaN 0 0 0 0.010504 0 19 80 AMAC1 146861 broad.mit.edu 37 17 33520951 33520951 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:33520951G>A uc002hjd.2 - 1 462 c.376C>T c.(376-378)CCC>TCC p.P126S NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 126 DUF6 1. integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) TTGCCAGCGGGCACCACCTGA 0.607 NaN 0 0 0 0.01441 0 93 156 MYO19 80179 broad.mit.edu 37 17 34864917 34864917 + Silent SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:34864917C>A uc010wcy.1 - 15 2207 c.1215G>T c.(1213-1215)TCG>TCT p.S405S MYO19_uc002hmw.2_Silent_p.S405S|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN myosin XIX isoform 2 405 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity ovary(1) 1 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AAGTGGTCCACGAGTCGGTGT 0.547 NaN 1 0 9.05144e-12 0.016723 1.00474e-11 12 17 GPATCH8 23131 broad.mit.edu 37 17 42476849 42476849 + Missense_Mutation SNP A A T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:42476849A>T uc002igw.1 - 8 2660 c.2596T>A c.(2596-2598)TCC>ACC p.S866T GPATCH8_uc002igv.1_Missense_Mutation_p.S788T|GPATCH8_uc010wiz.1_Missense_Mutation_p.S788T NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 866 Ser-rich. intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GAACGCCGGGAGGAACGATGC 0.537 NaN 0 0 0 0.017118 0 35 93 ICT1 3396 broad.mit.edu 37 17 73016618 73016618 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:73016618C>G uc002jmm.2 + 5 404 c.402C>G c.(400-402)ATC>ATG p.I134M NM_001545 NP_001536 Q14197 ICT1_HUMAN immature colon carcinoma transcript 1 precursor 134 mitochondrial translational termination mitochondrial large ribosomal subunit aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific ovary(1)|central_nervous_system(1) 2 all_lung(278;0.226) GAGAGTTGATCCTCACCTCTG 0.468 NaN 0 0 0 0.008291 0 10 61 ITGB4 3691 broad.mit.edu 37 17 73738530 73738530 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:73738530C>G uc002jpg.2 + 24 2929 c.2742C>G c.(2740-2742)CTC>CTG p.L914L ITGB4_uc002jph.2_Silent_p.L914L|ITGB4_uc002jpi.3_Silent_p.L914L|ITGB4_uc010dgp.1_Missense_Mutation_p.Q927E|ITGB4_uc002jpj.2_Silent_p.L914L NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 914 Cytoplasmic (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TCCACGACCTCAAGGTGGCCC 0.657 NaN 0 0 0 0.00308 0 8 14 GAA 2548 broad.mit.edu 37 17 78082619 78082619 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:78082619A>G uc002jxo.2 + 9 1500 c.1318A>G c.(1318-1320)ATG>GTG p.M440V GAA_uc002jxp.2_Missense_Mutation_p.M440V|GAA_uc002jxq.2_Missense_Mutation_p.M440V NM_001079803 NP_001073271 P10253 LYAG_HUMAN acid alpha-glucosidase preproprotein 440 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity ovary(1) 1 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) GCGCTACATGATGATCGTGGT 0.642 NaN 0 0 0 0.006214 0 7 11 RNF213 57674 broad.mit.edu 37 17 78321834 78321834 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:78321834C>T uc002jyh.1 + 4 4141 c.3918C>T c.(3916-3918)GTC>GTT p.V1306V NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TGCTGCAGGTCATAGAGAGGC 0.582 NaN 0 0 0 0.01892 0 21 66 RPTOR 57521 broad.mit.edu 37 17 78519560 78519560 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr17:78519560C>G uc002jyt.1 + 1 936 c.131C>G c.(130-132)TCC>TGC p.S44C RPTOR_uc002jys.2_Missense_Mutation_p.S44C|RPTOR_uc010wuf.1_Translation_Start_Site|RPTOR_uc010wug.1_Missense_Mutation_p.S44C|RPTOR_uc002jyr.1_Missense_Mutation_p.S44C NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 44 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 GGCTCCAAATCCTTAGCTCAG 0.478 NaN 0 0 0 0.010504 0 20 91 ANKRD30B 374860 broad.mit.edu 37 18 14851705 14851705 + Missense_Mutation SNP A A T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr18:14851705A>T uc010dlo.2 + 36 3585 c.3405A>T c.(3403-3405)AAA>AAT p.K1135N ANKRD30B_uc010xal.1_Missense_Mutation_p.K277N NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1220 Potential. ovary(1)|skin(1) 2 TGAAACAGAAAACAGTAACAA 0.358 NaN 0 0 0 0.007413 0 19 22 TAF4B 6875 broad.mit.edu 37 18 23854694 23854694 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr18:23854694T>A uc002kvu.3 + 4 1154 c.665T>A c.(664-666)CTG>CAG p.L222Q TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.L222Q NM_005640 NP_005631 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding 222 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1)|skin(1) 3 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) GTAACTACCCTGAAGCCTTCA 0.428 NaN 0 0 0 0.004007 0 16 101 SYT4 6860 broad.mit.edu 37 18 40851713 40851713 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr18:40851713G>C uc002law.2 - 3 1303 c.934C>G c.(934-936)CGA>GGA p.R312G SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Missense_Mutation_p.R294G|SYT4_uc010dnh.2_Intron NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 312 C2 2.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 GGCAGATGTCGAGCTTTTAAG 0.413 NaN 0 0 0 0.010729 0 12 65 C3 718 broad.mit.edu 37 19 6679429 6679429 + Missense_Mutation SNP C C T rs142868256 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:6679429C>T uc002mfm.2 - 37 4597 c.4535G>A c.(4534-4536)CGC>CAC p.R1512H C3_uc002mfl.2_Missense_Mutation_p.R248H NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1512 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTCAGCACAGCGGCACAGTTC 0.572 NaN 0 0 0 0.006999 0 38 77 MUC16 94025 broad.mit.edu 37 19 9090928 9090928 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:9090928G>A uc002mkp.2 - 1 1091 c.887C>T c.(886-888)TCA>TTA p.S296L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 296 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCTGGTCTCTGATATTTTATT 0.517 NaN 0 0 0 0.011902 0 43 46 ILF3 3609 broad.mit.edu 37 19 10798322 10798322 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:10798322C>T uc002mpn.2 + 18 2677 c.2360C>T c.(2359-2361)TCG>TTG p.S787L ILF3_uc002mpo.2_Missense_Mutation_p.S791L|ILF3_uc002mpq.2_Nonsense_Mutation_p.R90* NM_012218 NP_036350 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3 isoform a 787 Interaction with PRMT1. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding|protein binding ovary(3) 3 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) TACTCCTACTCGAACTCCTAC 0.597 NaN 0 0 0 0.008871 0 21 14 DDA1 79016 broad.mit.edu 37 19 17426805 17426805 + Splice_Site SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:17426805G>T uc002ngd.2 + 4 325 c.198_splice c.e4+1 p.K66_splice DDA1_uc002nge.2_Splice_Site_p.E5_splice NM_024050 NP_076955 Q9BW61 DDA1_HUMAN DET1 and DDB1 associated 1 ovary(1) 1 GGACAAAAAGGTGAGGCCCAC 0.323 NaN 1 0 3.90053e-15 0.012213 4.34377e-15 34 175 ZNF486 90649 broad.mit.edu 37 19 20308312 20308312 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:20308312C>A uc002nou.2 + 4 850 c.793C>A c.(793-795)CCC>ACC p.P265T NM_052852 NP_443084 Q96H40 ZN486_HUMAN zinc finger protein 486 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGGAGAGAAACCCTACATTTG 0.368 NaN 1 0 0.00198382 0.001984 0.00202515 7 31 ZNF486 90649 broad.mit.edu 37 19 20308324 20308324 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:20308324G>A uc002nou.2 + 4 862 c.805G>A c.(805-807)GAA>AAA p.E269K NM_052852 NP_443084 Q96H40 ZN486_HUMAN zinc finger protein 486 269 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTACATTTGTGAAGAATGTGG 0.373 NaN 0 0 0 0.00308 0 8 35 ZNF681 148213 broad.mit.edu 37 19 23927544 23927544 + Missense_Mutation SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:23927544T>C uc002nrk.3 - 4 950 c.808A>G c.(808-810)ACA>GCA p.T270A ZNF681_uc002nrl.3_Missense_Mutation_p.T201A|ZNF681_uc002nrj.3_Missense_Mutation_p.T201A NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 270 C2H2-type 4; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) GTATGTGTTGTAATGTGTGAC 0.353 NaN 0 0 0 0.004007 0 17 47 ARHGAP33 115703 broad.mit.edu 37 19 36278140 36278140 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:36278140G>A uc002obs.1 + 21 2275 c.2190G>A c.(2188-2190)CCG>CCA p.P730P ARHGAP33_uc002obt.1_Silent_p.P755P|ARHGAP33_uc010eel.2_Silent_p.P479P|ARHGAP33_uc002obv.1_Silent_p.P479P NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 CCCCACCCCCGCCCCCTAAGA 0.657 NaN 0 0 0 0.007835 0 41 17 SPTBN4 57731 broad.mit.edu 37 19 41076526 41076526 + Missense_Mutation SNP A A T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:41076526A>T uc002ony.2 + 33 7297 c.7211A>T c.(7210-7212)CAG>CTG p.Q2404L SPTBN4_uc002onz.2_Missense_Mutation_p.Q2404L|SPTBN4_uc010egx.2_Missense_Mutation_p.Q1147L NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 2404 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) gccccggcccagggcggctcc 0.343 NaN 0 0 0 0.009096 0 4 2 PSG2 5670 broad.mit.edu 37 19 43579628 43579628 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:43579628G>C uc002ovr.2 - 3 680 c.587C>G c.(586-588)TCC>TGC p.S196C PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.S196C|PSG2_uc010eiq.1_Missense_Mutation_p.S196C|PSG2_uc002ovs.3_Missense_Mutation_p.S196C|PSG2_uc002ovt.3_Missense_Mutation_p.S196C NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 196 Ig-like C2-type 1. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) GTTGGTTTCGGACAGCTGAAA 0.493 NaN 0 0 0 0.01441 0 125 798 IRGQ 126298 broad.mit.edu 37 19 44097062 44097062 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:44097062G>A uc002oww.2 - 2 1106 c.988C>T c.(988-990)CGC>TGC p.R330C IRGQ_uc010eiv.2_Missense_Mutation_p.R330C NM_001007561 NP_001007562 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 330 protein binding ovary(1)|pancreas(1) 2 Prostate(69;0.0199) CCGTCTGTGCGCACGCAGACA 0.632 NaN 0 0 0 0.013537 0 13 264 ZNF229 7772 broad.mit.edu 37 19 44933335 44933335 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:44933335C>T uc002oze.1 - 6 2055 c.1621G>A c.(1621-1623)GGA>AGA p.G541R ZNF229_uc010ejk.1_Missense_Mutation_p.G195R|ZNF229_uc010ejl.1_Missense_Mutation_p.G535R NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 541 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) GGTTTCTCTCCTGTGTGCAGT 0.512 NaN 0 0 0 0.01441 0 145 87 CRX 1406 broad.mit.edu 37 19 48342712 48342712 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:48342712G>A uc002phq.3 + 4 592 c.388G>A c.(388-390)GAT>AAT p.D130N NM_000554 NP_000545 O43186 CRX_HUMAN cone-rod homeobox protein 130 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) ACCCTCCACAGATGTGTGTCC 0.567 NaN 0 0 0 0.015359 0 37 81 FUT2 2524 broad.mit.edu 37 19 49206253 49206253 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:49206253C>A uc002pke.3 + 2 151 c.40C>A c.(40-42)CAC>AAC p.H14N FUT2_uc010emc.2_Missense_Mutation_p.H14N NM_001097638 NP_001091107 Q10981 FUT2_HUMAN fucosyltransferase 2 14 Cytoplasmic (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity central_nervous_system(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) TCCCATGGCCCACTTCATCCT 0.547 NaN 1 0 1.1362e-29 0.01441 1.29045e-29 61 184 PPFIA3 8541 broad.mit.edu 37 19 49643235 49643235 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:49643235C>T uc002pmr.2 + 18 2590 c.2258C>T c.(2257-2259)TCT>TTT p.S753F PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.S621F|PPFIA3_uc002pmt.2_5'Flank NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 753 cell surface|cytoplasm protein binding lung(1) 1 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) ACCCCAGATTCTCTGCACAAA 0.562 NaN 0 0 0 0.01441 0 68 110 HAS1 3036 broad.mit.edu 37 19 52220265 52220265 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:52220265C>T uc002pxo.1 - 3 919 c.884G>A c.(883-885)TGT>TAT p.C295Y HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Missense_Mutation_p.C260Y|HAS1_uc002pxn.1_Missense_Mutation_p.C302Y|HAS1_uc002pxp.1_Missense_Mutation_p.C294Y NM_001523 NP_001514 Q92839 HAS1_HUMAN hyaluronan synthase 1 295 Cytoplasmic (Potential). cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding ovary(1)|pancreas(1) 2 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GTAGCTCTGACAAGCCCGCTC 0.577 NaN 0 0 0 0.01441 0 53 159 ZNF805 390980 broad.mit.edu 37 19 57764890 57764890 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:57764890G>A uc010ygt.1 + 4 910 c.703G>A c.(703-705)GAG>AAG p.E235K ZNF805_uc010ygu.1_Missense_Mutation_p.E102K NM_001023563 NP_001018857 Q5CZA5 ZN805_HUMAN zinc finger protein 805 isoform 1 235 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGAATGCACAGAGTGTGGAAA 0.458 NaN 0 0 0 0.004672 0 3 18 ZNF548 147694 broad.mit.edu 37 19 57908460 57908460 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:57908460G>T uc002qom.2 + 2 310 c.60G>T c.(58-60)GAG>GAT p.E20D ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.E23D NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCTCCCAGGAGGAGTGGGGGC 0.488 NaN 1 0 1.15966e-41 0.01441 1.32147e-41 96 171 ZNF606 80095 broad.mit.edu 37 19 58491154 58491154 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:58491154G>A uc002qqw.2 - 7 1512 c.894C>T c.(892-894)TTC>TTT p.F298F ZNF606_uc010yhp.1_Silent_p.F208F NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 298 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) TTATATGATTGAAAGATTTAA 0.318 NaN 0 0 0 0.008871 0 21 49 A1BG 1 broad.mit.edu 37 19 58862857 58862857 + Silent SNP G G A rs140428520 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:58862857G>A uc002qsd.3 - 5 872 c.810C>T c.(808-810)GCC>GCT p.A270A NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_5'Flank NM_130786 NP_570602 P04217 A1BG_HUMAN alpha 1B-glycoprotein precursor 270 Ig-like V-type 3. extracellular region 0 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) CATCCCCCAGGGCCACCGCGT 0.632 NaN 0 0 0 0.00308 0 8 46 PPM1G 5496 broad.mit.edu 37 2 27608625 27608625 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:27608625T>A uc002rkl.2 - 5 505 c.398A>T c.(397-399)GAT>GTT p.D133V PPM1G_uc002rkm.2_5'UTR NM_002707 NP_002698 O15355 PPM1G_HUMAN protein phosphatase 1G 133 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) ATCATCTTCATCAGCTACTTT 0.393 NaN 0 0 0 0.019004 0 32 66 SUPT7L 9913 broad.mit.edu 37 2 27876591 27876591 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:27876591G>C uc002rlh.1 - 6 1349 c.1006C>G c.(1006-1008)CTT>GTT p.L336V SUPT7L_uc002rli.1_Missense_Mutation_p.L336V|SUPT7L_uc010ymf.1_Missense_Mutation_p.L201V|SUPT7L_uc002rlj.1_Missense_Mutation_p.L334V|SUPT7L_uc010ezh.1_Missense_Mutation_p.L334V NM_014860 NP_055675 O94864 ST65G_HUMAN SPTF-associated factor 65 gamma 336 histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity skin(2) 2 Acute lymphoblastic leukemia(172;0.155) AGATTCCAAAGAGGAGAAGCA 0.448 NaN 0 0 0 0.006999 0 39 93 XDH 7498 broad.mit.edu 37 2 31591514 31591514 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:31591514C>T uc002rnv.1 - 19 2072 c.1993G>A c.(1993-1995)GGG>AGG p.G665R NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 665 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) ATGATATGCCCAACACAAGTA 0.443 NaN 0 0 0 0.00632 0 26 66 MTIF2 4528 broad.mit.edu 37 2 55479634 55479634 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:55479634G>C uc002ryn.2 - 9 1557 c.820C>G c.(820-822)CAG>GAG p.Q274E MTIF2_uc010yox.1_Intron|MTIF2_uc002ryo.2_Missense_Mutation_p.Q274E NM_001005369 NP_001005369 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 274 G-domain. regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity ovary(1) 1 TTGGCATGCTGAATAGATTCT 0.393 NaN 0 0 0 0.012213 0 28 74 PPP3R1 5534 broad.mit.edu 37 2 68408096 68408096 + Nonstop_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:68408096C>G uc002sei.1 - 6 904 c.512G>C c.(511-513)TGA>TCA p.*171S NM_000945 NP_000936 P63098 CANB1_HUMAN protein phosphatase 3, regulatory subunit B, 171 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals calcineurin complex|cytosol calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding 0 Pimecrolimus(DB00337) TGATAAGAGTCACACATCTAC 0.433 NaN 0 0 0 0.001168 0 5 23 MXD1 4084 broad.mit.edu 37 2 70164512 70164512 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:70164512C>G uc002sfy.2 + 5 724 c.464C>G c.(463-465)TCC>TGC p.S155C MXD1_uc010yqp.1_Missense_Mutation_p.S155C|MXD1_uc010yqq.1_Missense_Mutation_p.S92C|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Missense_Mutation_p.S145C NM_002357 NP_002348 Q05195 MAD1_HUMAN MAX dimerization protein 1 155 cell proliferation|multicellular organismal development mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 TCGGAGCGCTCCGACTCCGAC 0.627 NaN 0 0 0 0.006122 0 19 42 ZAP70 7535 broad.mit.edu 37 2 98340656 98340656 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:98340656G>C uc002syd.1 + 3 364 c.157G>C c.(157-159)GAT>CAT p.D53H ZAP70_uc010yvf.1_Missense_Mutation_p.D53H|ZAP70_uc002sye.1_5'Flank NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 53 SH2 1. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 GCTCGTGCACGATGTGCGCTT 0.672 NaN 0 0 0 0.013537 0 13 11 MGAT4A 11320 broad.mit.edu 37 2 99294780 99294780 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:99294780C>G uc002sze.2 - 3 563 c.249G>C c.(247-249)TTG>TTC p.L83F MGAT4A_uc010fil.2_5'UTR NM_012214 NP_036346 Q9UM21 MGT4A_HUMAN alpha-1,3-mannosyl-glycoprotein 83 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding skin(1) 1 AAAACTTATTCAACGCATCCT 0.249 NaN 0 0 0 0.004007 0 17 108 MGAT4A 11320 broad.mit.edu 37 2 99294910 99294911 + Missense_Mutation DNP TC TC AT TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:99294910_99294911TC>AT uc002sze.2 - 3 432_433 c.118_119GA>AT c.(118-120)GAA>ATA p.E40I MGAT4A_uc010fil.2_5'UTR NM_012214 NP_036346 Q9UM21 MGT4A_HUMAN alpha-1,3-mannosyl-glycoprotein 40 Lumenal (Potential).|Potential. N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding skin(1) 1 AGCAAGGAATTCTCGTTGATAA 0.337 NaN 0 0 0 0.004672 0 18 85 GLI2 2736 broad.mit.edu 37 2 121744054 121744054 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:121744054G>A uc010flp.2 + 12 2187 c.2157G>A c.(2155-2157)CTG>CTA p.L719L GLI2_uc002tmq.1_Silent_p.L391L|GLI2_uc002tmr.1_Silent_p.L374L|GLI2_uc002tmt.3_Silent_p.L391L|GLI2_uc002tmu.3_Silent_p.L374L|GLI2_uc002tmw.1_Silent_p.L702L NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 719 QL -> HV (in Ref. 4; BAA03568/BAA03569). axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) GCCTCCAGCTGCGCAAACACA 0.657 NaN 0 0 0 0.001168 0 6 21 ERCC3 2071 broad.mit.edu 37 2 128036775 128036775 + Silent SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:128036775T>C uc002toh.1 - 10 1799 c.1704A>G c.(1702-1704)CTA>CTG p.L568L ERCC3_uc002toe.1_Silent_p.L323L|ERCC3_uc002tof.1_Silent_p.L504L|ERCC3_uc002tog.1_Silent_p.L504L NM_000122 NP_000113 P19447 ERCC3_HUMAN excision repair cross-complementing rodent 568 Helicase C-terminal. cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|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|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding ovary(2)|lung(2)|breast(2)|kidney(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) CATATTCCTTTAGGGCAAACA 0.428 NaN Mis|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.00499 0 17 22 GPR17 2840 broad.mit.edu 37 2 128408390 128408390 + Silent SNP G G A rs145234598 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:128408390G>A uc010yzn.1 + 4 776 c.165G>A c.(163-165)ACG>ACA p.T55T LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.T55T|GPR17_uc010yzo.1_Silent_p.T27T|GPR17_uc002tpd.2_Silent_p.T27T NM_001161415 NP_001154887 Q13304 GPR17_HUMAN G protein-coupled receptor 17 isoform a 55 Extracellular (Potential). integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) gccaggagacgccactggaga 0.1 NaN OREG0014966 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.020292 0 14 56 TTN 7273 broad.mit.edu 37 2 179448568 179448568 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:179448568G>C uc010zfg.1 - 261 57861 c.57637C>G c.(57637-57639)CCA>GCA p.P19213A uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P12908A|TTN_uc010zfi.1_Missense_Mutation_p.P12841A|TTN_uc010zfj.1_Missense_Mutation_p.P12716A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20140 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCATGCTTTGGACGAGCCCAG 0.428 NaN 0 0 0 0.001168 0 6 10 FN1 2335 broad.mit.edu 37 2 216237060 216237060 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:216237060G>C uc002vfa.2 - 40 6552 c.6286C>G c.(6286-6288)CTT>GTT p.L2096V FN1_uc002vfb.2_Missense_Mutation_p.L1915V|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Intron|FN1_uc002vfe.2_Missense_Mutation_p.L2005V|FN1_uc002vff.2_Intron|FN1_uc002vfg.2_Missense_Mutation_p.L1915V|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Missense_Mutation_p.L2096V|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_Missense_Mutation_p.L290V|FN1_uc010zjp.1_Missense_Mutation_p.L633V|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Intron|FN1_uc010fvb.1_Intron|FN1_uc010fvc.1_Intron|FN1_uc010fvd.1_Missense_Mutation_p.L187V NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 2005 Connecting strand 3 (CS-3) (V region). 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 central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 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) GGTCCATGAAGATTGGGGTGT 0.502 NaN 0 0 0 0.015359 0 34 29 SPEG 10290 broad.mit.edu 37 2 220326632 220326632 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:220326632C>G uc010fwg.2 + 7 2469 c.2469C>G c.(2467-2469)CCC>CCG p.P823P SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Silent_p.P31P|SPEG_uc002vln.1_Silent_p.P31P|SPEG_uc002vlp.1_Silent_p.P31P|SPEG_uc002vlq.2_5'UTR NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 823 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TCAGCAGCCCCATCACCTCCG 0.627 NaN 0 0 0 0.019004 0 36 46 ITM2C 81618 broad.mit.edu 37 2 231738161 231738161 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:231738161G>C uc002vqz.2 + 2 270 c.150G>C c.(148-150)AAG>AAC p.K50N ITM2C_uc002vra.2_Intron|ITM2C_uc002vrb.2_Missense_Mutation_p.K50N|ITM2C_uc002vrc.2_5'Flank|ITM2C_uc002vrd.2_5'Flank NM_030926 NP_112188 Q9NQX7 ITM2C_HUMAN integral membrane protein 2C isoform 1 50 negative regulation of neuron projection development|neuron differentiation Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm beta-amyloid binding 0 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) ATCGATCCAAGAGGGGGGGCT 0.612 NaN 0 0 0 0.001168 0 6 27 COL6A3 1293 broad.mit.edu 37 2 238303321 238303321 + Silent SNP A A C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr2:238303321A>C uc002vwl.2 - 3 903 c.618T>G c.(616-618)CTT>CTG p.L206L COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Silent_p.L206L NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 206 VWFA 1.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTATGTCATGAAGTGAGGTAA 0.433 NaN 0 0 0 0.008291 0 11 37 MAP1LC3A 84557 broad.mit.edu 37 20 33147573 33147573 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr20:33147573C>T uc002xaq.1 + 4 391 c.237C>T c.(235-237)TTC>TTT p.F79F MAP1LC3A_uc002xap.1_Silent_p.F83F NM_032514 NP_115903 Q9H492 MLP3A_HUMAN microtubule-associated protein 1 light chain 3 79 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule phosphatidylethanolamine binding|protein binding 0 CGCAGGCCTTCTTCCTGCTGG 0.632 NaN 0 0 0 0.021523 0 26 69 GDF5 8200 broad.mit.edu 37 20 34022096 34022096 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr20:34022096G>A uc002xck.1 - 2 1436 c.1117C>T c.(1117-1119)CTG>TTG p.L373L GDF5_uc010gfc.1_Silent_p.L373L|uc002xcj.2_Silent_p.Q169Q|GDF5_uc010zvc.1_Silent_p.L373L NM_000557 NP_000548 P43026 GDF5_HUMAN growth differentiation factor 5 preproprotein 373 L -> R (in SYM1; the mature GDF5 protein is detected as the wild-type in the supernatant derived from the mutant transfected cells). cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity 0 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) TGGCTGAACAGGTACTCATAC 0.597 NaN 0 0 0 0.01441 0 57 114 SAMHD1 25939 broad.mit.edu 37 20 35547851 35547851 + Silent SNP T T C rs140804613 byFrequency TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr20:35547851T>C uc002xgh.1 - 7 898 c.768A>G c.(766-768)CAA>CAG p.Q256Q NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN SAM domain- and HD domain-containing protein 1 256 HD. defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity 0 Myeloproliferative disorder(115;0.00878) TGAGACCATATTGTTCCATGA 0.358 NaN 0 0 0 0.013537 0 13 41 NFATC2 4773 broad.mit.edu 37 20 50139915 50139915 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr20:50139915C>T uc002xwd.2 - 2 1085 c.865G>A c.(865-867)GGC>AGC p.G289S NFATC2_uc002xwc.2_Missense_Mutation_p.G289S|NFATC2_uc010zyv.1_Missense_Mutation_p.G70S|NFATC2_uc010zyw.1_Missense_Mutation_p.G70S|NFATC2_uc010zyx.1_Missense_Mutation_p.G269S|NFATC2_uc010zyy.1_Missense_Mutation_p.G70S|NFATC2_uc010zyz.1_Missense_Mutation_p.G70S|NFATC2_uc002xwe.2_Missense_Mutation_p.G269S NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 289 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) GCCGGGGAGCCGTGGTCCTGG 0.711 NaN 0 0 0 0.014758 0 4 14 GABPA 2551 broad.mit.edu 37 21 27130395 27130395 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr21:27130395A>G uc002ylx.3 + 6 1155 c.628A>G c.(628-630)ATA>GTA p.I210V GABPA_uc002yly.3_Missense_Mutation_p.I210V NM_002040 NP_002031 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha 210 PNT. positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1)|central_nervous_system(1) 2 CATGACCGATATAGACCTCAC 0.438 NaN 0 0 0 0.013537 0 11 68 CLDN8 9073 broad.mit.edu 37 21 31587705 31587705 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr21:31587705G>T uc002ynu.1 - 1 614 c.539C>A c.(538-540)GCT>GAT p.A180D NM_199328 NP_955360 P56748 CLD8_HUMAN claudin 8 180 Helical; (Potential). calcium-independent cell-cell adhesion endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity 0 GCAGAACAGAGCTCCTCCAAC 0.453 NaN 1 0 0.00909568 0.009096 0.00917594 4 65 RIPK4 54101 broad.mit.edu 37 21 43161747 43161747 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr21:43161747C>T uc002yzn.1 - 8 1654 c.1606G>A c.(1606-1608)GAG>AAG p.E536K NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 536 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 GTCCGGCCCTCAAAGTCCACC 0.647 NaN 0 0 0 0.00499 0 17 47 UBASH3A 53347 broad.mit.edu 37 21 43836631 43836631 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr21:43836631G>C uc002zbe.2 + 6 784 c.748G>C c.(748-750)GAG>CAG p.E250Q UBASH3A_uc002zbf.2_Missense_Mutation_p.E212Q|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.E212Q NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 250 cytosol|nucleus ovary(3) 3 GAGGACGCTGGAGCAGCTGGC 0.597 NaN 0 0 0 0.003163 0 16 21 PFKL 5211 broad.mit.edu 37 21 45746744 45746744 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr21:45746744G>A uc002zel.2 + 22 2401 c.2342G>A c.(2341-2343)TGA>TAA p.*781* PFKL_uc002zek.2_Silent_p.*828*|PFKL_uc002zem.2_Silent_p.*368*|PFKL_uc002zen.2_Silent_p.*368* NM_002626 NP_002617 P17858 K6PL_HUMAN liver phosphofructokinase 781 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding 0 Colorectal(79;0.0811) AAGGGCTTCTGAGGCCAGCCA 0.667 NaN 0 0 0 0.014758 0 5 4 TRPM2 7226 broad.mit.edu 37 21 45811248 45811248 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr21:45811248G>A uc002zet.1 + 12 1747 c.1534G>A c.(1534-1536)GAG>AAG p.E512K TRPM2_uc002zeu.1_Missense_Mutation_p.E512K|TRPM2_uc002zew.1_Missense_Mutation_p.E512K|TRPM2_uc010gpt.1_Missense_Mutation_p.E512K|TRPM2_uc002zex.1_Missense_Mutation_p.E298K|TRPM2_uc002zey.1_Missense_Mutation_p.E25K NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 512 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 GCAGCTGAAGGAGTTTGTCAC 0.567 NaN 0 0 0 0.013726 0 33 60 POTEH 23784 broad.mit.edu 37 22 16287675 16287675 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr22:16287675A>G uc010gqp.2 - 1 263 c.211T>C c.(211-213)TGG>CGG p.W71R POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 71 skin(1) 1 CCCCTGCACCAGGGGAAGCAG 0.582 NaN 0 0 0 0.01441 0 53 140 MRPL40 64976 broad.mit.edu 37 22 19423455 19423455 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr22:19423455G>C uc002zpg.2 + 4 633 c.591G>C c.(589-591)AAG>AAC p.K197N HIRA_uc010gro.1_Intron|HIRA_uc010grp.2_Intron|MRPL40_uc002zph.2_Missense_Mutation_p.K153N NM_003776 NP_003767 Q9NQ50 RM40_HUMAN mitochondrial ribosomal protein L40 precursor 197 anatomical structure morphogenesis mitochondrial ribosome|nucleus 0 Colorectal(54;0.0993) ACATCACCAAGGTGTACACAC 0.502 NaN 0 0 0 0.010729 0 11 50 TCN2 6948 broad.mit.edu 37 22 31010392 31010392 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr22:31010392C>G uc003aip.1 + 4 642 c.484C>G c.(484-486)CTG>GTG p.L162V TCN2_uc003aiq.1_Missense_Mutation_p.L158V|TCN2_uc003air.1_Missense_Mutation_p.L135V NM_000355 NP_000346 P20062 TCO2_HUMAN transcobalamin II precursor 162 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCTGGGCATTCTGGCCCTGTG 0.577 NaN 0 0 0 0.007291 0 29 25 CACNG2 10369 broad.mit.edu 37 22 37098579 37098579 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr22:37098579C>T uc003aps.1 - 1 325 c.43G>A c.(43-45)GTT>ATT p.V15I uc003apt.1_5'Flank NM_006078 NP_006069 Q9Y698 CCG2_HUMAN voltage-dependent calcium channel gamma-2 15 Helical; (Potential). membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 AAAGCACCAACGGTGGTTAAA 0.478 NaN 0 0 0 0.01441 0 57 60 MCHR1 2847 broad.mit.edu 37 22 41077323 41077323 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr22:41077323C>T uc003ayz.2 + 2 928 c.660C>T c.(658-660)TCC>TCT p.S220S MCHR1_uc003aza.2_Silent_p.S109S NM_005297 NP_005288 Q99705 MCHR1_HUMAN G protein-coupled receptor 24 220 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity 0 CCATCTCTTCCACGAAGTTCC 0.587 NaN 0 0 0 0.004656 0 26 51 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr22:44083357C>T uc003bdy.1 - 11 1351 c.1136G>A c.(1135-1137)AGA>AAA p.R379K EFCAB6_uc003bdz.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.R376K NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308 NaN 0 0 0 0.016723 0 13 24 CLASP2 23122 broad.mit.edu 37 3 33626305 33626305 + Missense_Mutation SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:33626305T>C uc003cfu.2 - 22 2530 c.2176A>G c.(2176-2178)AGA>GGA p.R726G CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.R319G NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 727 ovary(3)|central_nervous_system(1) 4 ATCTTGCTTCTTTTTTGTGCT 0.473 NaN 0 0 0 0.008361 0 31 38 SCN10A 6336 broad.mit.edu 37 3 38743492 38743492 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:38743492C>G uc003ciq.2 - 26 4495 c.4495G>C c.(4495-4497)GAC>CAC p.D1499H NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1499 IV. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCACTTTGGTCATCAGTCTCC 0.458 NaN 0 0 0 0.009535 0 31 89 SCN10A 6336 broad.mit.edu 37 3 38743576 38743576 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:38743576C>G uc003ciq.2 - 26 4411 c.4411G>C c.(4411-4413)GAC>CAC p.D1471H NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1471 IV. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GTCACGATGTCAAAGACAAAA 0.458 NaN 0 0 0 0.007413 0 17 80 SCN10A 6336 broad.mit.edu 37 3 38743601 38743601 + Splice_Site SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:38743601C>G uc003ciq.2 - 26 4387 c.4387_splice c.e26-1 p.N1463_splice NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GGAACTTGTTCTGAGAAAACA 0.468 NaN 0 0 0 0.00499 0 16 66 NKTR 4820 broad.mit.edu 37 3 42678832 42678832 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:42678832C>G uc003clo.2 + 13 1783 c.1636C>G c.(1636-1638)CGA>GGA p.R546G NKTR_uc003clm.1_Missense_Mutation_p.R293G|NKTR_uc003clp.2_Missense_Mutation_p.R293G|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.R436G|NKTR_uc003clr.1_Missense_Mutation_p.R293G|NKTR_uc003cls.2_Missense_Mutation_p.R246G NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 546 Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) ATCACATTCTCGAAGTAGATC 0.418 NaN 0 0 0 0.005524 0 39 117 IQCF2 389123 broad.mit.edu 37 3 51895685 51895685 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:51895685G>C uc003dbt.1 + 1 41 c.3G>C c.(1-3)ATG>ATC p.M1I IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA NM_203424 NP_982248 Q8IXL9 IQCF2_HUMAN IQ motif containing F2 1 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GACAGGCCATGAGGGTTCGAT 0.483 NaN 0 0 0 0.010504 0 18 26 FLNB 2317 broad.mit.edu 37 3 58088057 58088057 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:58088057G>A uc003djj.2 + 9 1638 c.1473G>A c.(1471-1473)ATG>ATA p.M491I FLNB_uc010hne.2_Missense_Mutation_p.M491I|FLNB_uc003djk.2_Missense_Mutation_p.M491I|FLNB_uc010hnf.2_Missense_Mutation_p.M491I|FLNB_uc003djl.2_Missense_Mutation_p.M322I|FLNB_uc003djm.2_Missense_Mutation_p.M322I NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 491 Filamin 3. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GTGTAACCATGAAGGGTCCTA 0.522 NaN 0 0 0 0.013726 0 35 47 IMPG2 50939 broad.mit.edu 37 3 100992518 100992518 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:100992518G>A uc003duq.1 - 7 938 c.735C>T c.(733-735)TTC>TTT p.F245F IMPG2_uc011bhe.1_Silent_p.F108F NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 245 Extracellular (Potential).|SEA 1. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GGTGGATACTGAATTCTGCAA 0.403 NaN 0 0 0 0.008291 0 11 24 COPG 22820 broad.mit.edu 37 3 128979195 128979195 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:128979195C>T uc003els.2 + 11 991 c.891C>T c.(889-891)AGC>AGT p.S297S COPG_uc010htb.2_Silent_p.S203S NM_016128 NP_057212 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 297 HEAT 2. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(3)|breast(1) 4 TTTTCTGCAGCTCACCCAAGG 0.562 NaN 0 0 0 0.021523 0 21 101 SLCO2A1 6578 broad.mit.edu 37 3 133698434 133698434 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:133698434T>A uc003eqa.3 - 2 399 c.125A>T c.(124-126)CAG>CTG p.Q42L SLCO2A1_uc003eqb.3_Missense_Mutation_p.Q42L|SLCO2A1_uc011blv.1_Missense_Mutation_p.Q42L|SLCO2A1_uc010htw.1_5'UTR NM_005630 NP_005621 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, 42 Helical; Name=1; (Potential). sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding central_nervous_system(1) 1 TTGGCAGAGCTGCAGGAGGCC 0.587 NaN 0 0 0 0.00632 0 27 74 STAG1 10274 broad.mit.edu 37 3 136192446 136192446 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:136192446G>C uc003era.1 - 11 1352 c.1060C>G c.(1060-1062)CTG>GTG p.L354V STAG1_uc003erb.1_Missense_Mutation_p.L354V|STAG1_uc003erc.1_Missense_Mutation_p.L128V|STAG1_uc010hua.1_Missense_Mutation_p.L217V NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 354 SCD. cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 AGACTCTGCAGAGCTTTCAAA 0.338 NaN 0 0 0 0.014323 0 22 49 PLOD2 5352 broad.mit.edu 37 3 145790403 145790403 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:145790403T>A uc003evs.1 - 16 2236 c.1730A>T c.(1729-1731)GAT>GTT p.D577V PLOD2_uc003evq.1_Missense_Mutation_p.D258V|PLOD2_uc011bnm.1_Missense_Mutation_p.D543V|PLOD2_uc003evr.1_Missense_Mutation_p.D598V NM_000935 NP_000926 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 577 protein modification process|response to hypoxia rough endoplasmic reticulum membrane 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-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Vitamin C(DB00126) TACCAATTCATCACAGGCTTT 0.343 NaN 0 0 0 0.016723 0 12 39 ZIC1 7545 broad.mit.edu 37 3 147128322 147128322 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:147128322C>G uc003ewe.2 + 1 1142 c.423C>G c.(421-423)CTC>CTG p.L141L NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 141 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CGGGCCACCTCCTCTTCCCCG 0.726 NaN 0 0 0 0.004672 0 3 18 TNIK 23043 broad.mit.edu 37 3 170858210 170858210 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:170858210C>T uc003fhh.2 - 13 1655 c.1310G>A c.(1309-1311)AGG>AAG p.R437K TNIK_uc003fhi.2_Missense_Mutation_p.R437K|TNIK_uc003fhj.2_Missense_Mutation_p.R437K|TNIK_uc003fhk.2_Missense_Mutation_p.R437K|TNIK_uc003fhl.2_Missense_Mutation_p.R437K|TNIK_uc003fhm.2_Missense_Mutation_p.R437K|TNIK_uc003fhn.2_Missense_Mutation_p.R437K|TNIK_uc003fho.2_Missense_Mutation_p.R437K NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 437 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CGCACGCCTCCTCTCCTCCTC 0.662 NaN 0 0 0 0.01441 0 52 108 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T rs121913279 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 A T A A Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr3:178952085A>T uc003fjk.2 + 21 3297 c.3140A>T c.(3139-3141)CAT>CTT p.H1047L NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). 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 p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 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) AATGATGCACATCATGGTGGC 0.378 H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.005524 0 41 55 HGFAC 3083 broad.mit.edu 37 4 3446124 3446124 + Missense_Mutation SNP G G C rs138611679 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr4:3446124G>C uc003ghc.2 + 6 688 c.685G>C c.(685-687)GAG>CAG p.E229Q HGFAC_uc010icw.2_Missense_Mutation_p.E229Q NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 229 Fibronectin type-I. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GGAACAGTGCGAGTGCTTCGG 0.677 NaN 0 0 0 0.004672 0 3 6 RELL1 768211 broad.mit.edu 37 4 37687844 37687844 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr4:37687844C>T uc003gsz.2 - 1 156 c.66G>A c.(64-66)GTG>GTA p.V22V RELL1_uc010ifc.2_Silent_p.V22V NM_001085399 NP_001078868 Q8IUW5 RELL1_HUMAN receptor expressed in lymphoid tissues like 1 22 cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane 0 GCGGCGAACTCACGGCGCCTC 0.761 NaN 0 0 0 0.014758 0 3 8 AASDH 132949 broad.mit.edu 37 4 57221444 57221444 + Missense_Mutation SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr4:57221444T>C uc003hbn.2 - 6 1160 c.1007A>G c.(1006-1008)AAT>AGT p.N336S AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.N183S|AASDH_uc003hbo.2_Missense_Mutation_p.N236S|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Missense_Mutation_p.N336S|AASDH_uc003hbp.2_Missense_Mutation_p.N336S NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 336 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) TTGTGTTTTATTGCCTTCTCC 0.403 NaN 0 0 0 0.010818 0 31 139 ENAM 10117 broad.mit.edu 37 4 71500192 71500193 + Missense_Mutation DNP CC CC AA TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr4:71500192_71500193CC>AA uc011caw.1 + 6 659_660 c.378_379CC>AA c.(376-381)AACCAG>AAAAAG p.126_127NQ>KK NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 126_127 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) AGAAACCCAACCAGACTCAGTC 0.52 NaN 0 0 0 0.004672 0 11 24 ENAM 10117 broad.mit.edu 37 4 71500195 71500195 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr4:71500195G>A uc011caw.1 + 6 662 c.381G>A c.(379-381)CAG>CAA p.Q127Q NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 127 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) AACCCAACCAGACTCAGTCAA 0.522 NaN 0 0 0 0.012319 0 11 23 GK2 2712 broad.mit.edu 37 4 80328580 80328580 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr4:80328580C>T uc003hlu.2 - 1 793 c.775G>A c.(775-777)GAC>AAC p.D259N NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 259 Substrate (By similarity). glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 GCACATTGGTCCCCCAAACAC 0.458 NaN 0 0 0 0.00632 0 29 68 GALNTL6 442117 broad.mit.edu 37 4 173150860 173150860 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr4:173150860G>C uc003isv.2 + 3 928 c.192G>C c.(190-192)TTG>TTC p.L64F NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 64 Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 CAGATGGTTTGAGAAGAAAGG 0.443 NaN 0 0 0 0.00308 0 7 23 BRD9 65980 broad.mit.edu 37 5 887497 887497 + Silent SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:887497T>A uc003jbq.2 - 6 863 c.696A>T c.(694-696)GCA>GCT p.A232A BRD9_uc003jbl.2_Silent_p.A116A|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Silent_p.A179A|BRD9_uc003jbo.2_Silent_p.A116A|BRD9_uc011cmc.1_RNA NM_023924 NP_076413 Q9H8M2 BRD9_HUMAN bromodomain containing 9 isoform 1 232 nucleic acid binding 0 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) TCTTAAAGCCTGCGTGAAGGA 0.498 NaN 0 0 0 0.005443 0 23 130 LPCAT1 79888 broad.mit.edu 37 5 1479749 1479749 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:1479749T>A uc003jcm.2 - 8 920 c.803A>T c.(802-804)CAA>CTA p.Q268L NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 268 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) GATTTCCACTTGGTTGTGAAA 0.448 NaN OREG0016481 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008291 0 11 26 IRX4 50805 broad.mit.edu 37 5 1879903 1879903 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:1879903G>A uc003jcz.2 - 4 570 c.451C>T c.(451-453)CGC>TGC p.R151C IRX4_uc011cmf.1_Missense_Mutation_p.R12C NM_016358 NP_057442 P78413 IRX4_HUMAN iroquois homeobox 4 151 Homeobox; TALE-type. heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(108;0.242) GTGGTCTCGCGCGTGGCGTTC 0.637 NaN 0 0 0 0.010504 0 21 38 ROPN1L 83853 broad.mit.edu 37 5 10461368 10461368 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:10461368C>T uc003jex.3 + 4 761 c.490C>T c.(490-492)CCC>TCC p.P164S NM_031916 NP_114122 Q96C74 ROP1L_HUMAN ropporin 1-like 164 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding ovary(1) 1 CGCTCGCATCCCCTTCAAGAC 0.567 NaN 0 0 0 0.00499 0 18 105 LMBRD2 92255 broad.mit.edu 37 5 36143342 36143342 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:36143342C>G uc003jkb.1 - 2 525 c.110G>C c.(109-111)GGA>GCA p.G37A NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 37 Helical; (Potential). integral to membrane 0 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAGCAGTGTTCCAATAATCAC 0.363 NaN 0 0 0 0.004007 0 16 44 C5orf42 65250 broad.mit.edu 37 5 37195984 37195984 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:37195984C>T uc011cpa.1 - 21 4018 c.3787G>A c.(3787-3789)GAT>AAT p.D1263N C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.D338N|C5orf42_uc011cpb.1_Missense_Mutation_p.D144N NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1263 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) GAAACTTCATCAAGCTTGTGG 0.378 NaN 0 0 0 0.006214 0 10 70 EMB 133418 broad.mit.edu 37 5 49695706 49695706 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:49695706C>T uc003jom.2 - 8 1202 c.953G>A c.(952-954)AGG>AAG p.R318K EMB_uc010ivq.2_Missense_Mutation_p.R112K|EMB_uc003jol.2_Missense_Mutation_p.R249K|EMB_uc011cpy.1_Missense_Mutation_p.R268K|EMB_uc010ivr.2_Missense_Mutation_p.R264K NM_198449 NP_940851 Q6PCB8 EMB_HUMAN embigin precursor 318 Cytoplasmic (Potential). integral to membrane 0 Lung SC(58;0.218) Lung NSC(810;0.0795) TTTTCTATGCCTGGGGACATT 0.269 NaN 0 0 0 0.001984 0 7 44 RNF180 285671 broad.mit.edu 37 5 63509826 63509826 + Missense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:63509826C>A uc003jti.2 + 4 783 c.673C>A c.(673-675)CAT>AAT p.H225N RNF180_uc003jth.3_Missense_Mutation_p.H225N|RNF180_uc010iws.2_Intron NM_001113561 NP_001107033 Q86T96 RN180_HUMAN ring finger protein 180 isoform 1 225 Cytoplasmic (Potential). integral to membrane|nuclear envelope zinc ion binding 0 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) AAGAGCTTTTCATAGAAAATC 0.388 NaN 1 0 1.08312e-15 0.009535 1.21013e-15 31 46 MAN2A1 4124 broad.mit.edu 37 5 109152978 109152978 + Missense_Mutation SNP C C T rs142458296 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:109152978C>T uc003kou.1 + 13 2911 c.1948C>T c.(1948-1950)CTT>TTT p.L650F NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 650 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TTGCAGGTACCTTGTGGTCTA 0.318 NaN 0 0 0 0.016723 0 11 81 PCDHA6 56142 broad.mit.edu 37 5 140208233 140208233 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:140208233G>A uc003lho.2 + 1 584 c.557G>A c.(556-558)AGT>AAT p.S186N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.S186N|PCDHA6_uc011dab.1_Missense_Mutation_p.S186N NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 186 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAATAAACAGTGATGACAAT 0.443 NaN 0 0 0 0.012213 0 34 56 PCDHA12 56137 broad.mit.edu 37 5 140256681 140256681 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:140256681G>T uc003lic.2 + 1 1751 c.1624G>T c.(1624-1626)GTG>TTG p.V542L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.V542L NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 542 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGACGCCGGCGTGCCGCCTCT 0.701 NaN 1 0 2.24893e-16 0.009718 2.52086e-16 43 79 PCDHA13 56136 broad.mit.edu 37 5 140263756 140263756 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:140263756C>T uc003lif.2 + 1 1903 c.1903C>T c.(1903-1905)CGC>TGC p.R635C PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.R635C|PCDHA13_uc003lid.2_Missense_Mutation_p.R635C NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 635 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCACGACGCGCCCTCTGGA 0.677 NaN 0 0 0 0.00623 0 42 50 PCDHB12 56124 broad.mit.edu 37 5 140589944 140589944 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:140589944T>A uc003liz.2 + 1 1654 c.1465T>A c.(1465-1467)TCG>ACG p.S489T PCDHB12_uc011dak.1_Missense_Mutation_p.S152T NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 489 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCAACTACTCGCTGCTGCC 0.657 NaN 0 0 0 0.00499 0 16 102 KIF4B 285643 broad.mit.edu 37 5 154396083 154396083 + Silent SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:154396083G>T uc010jih.1 + 1 2824 c.2664G>T c.(2662-2664)CTG>CTT p.L888L NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 888 Interaction with PRC1 (By similarity).|Potential. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AAAACAGCCTGAGACAGAGCA 0.438 NaN 1 0 4.35082e-09 0.010504 4.69286e-09 20 34 ODZ2 57451 broad.mit.edu 37 5 167674760 167674760 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:167674760G>C uc010jjd.2 + 27 6789 c.6789G>C c.(6787-6789)CAG>CAC p.Q2263H ODZ2_uc003lzr.3_Missense_Mutation_p.Q2033H|ODZ2_uc003lzt.3_Missense_Mutation_p.Q1636H|ODZ2_uc010jje.2_Missense_Mutation_p.Q1527H NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) ATCTGTGCCAGAGAGGGTCTG 0.542 NaN 0 0 0 0.010729 0 12 58 GRK6 2870 broad.mit.edu 37 5 176863486 176863486 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr5:176863486C>T uc011dfz.1 + 13 1519 c.1359C>T c.(1357-1359)TTC>TTT p.F453F GRK6_uc003mgp.2_Silent_p.F453F|GRK6_uc003mgq.2_Silent_p.F453F|GRK6_uc003mgs.1_Silent_p.F423F NM_002082 NP_002073 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 isoform B 453 AGC-kinase C-terminal. regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity large_intestine(1)|stomach(1)|breast(1) 3 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCTGAACTTCAAGCGGCTGG 0.672 NaN 0 0 0 0.008871 0 20 32 RIPK1 8737 broad.mit.edu 37 6 3077181 3077181 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:3077181A>G uc010jni.2 + 2 356 c.124A>G c.(124-126)ATG>GTG p.M42V RIPK1_uc003muv.3_5'UTR|RIPK1_uc003muw.3_Intron|RIPK1_uc011dhs.1_Missense_Mutation_p.M42V|RIPK1_uc003mux.2_Missense_Mutation_p.M42V NM_003804 NP_003795 Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine 42 Protein kinase. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity large_intestine(3)|lung(1)|skin(1) 5 Ovarian(93;0.0386) all_hematologic(90;0.0895) CCAGGGACTCATGATCATGAA 0.527 NaN 0 0 0 0.006122 0 17 33 GCNT2 2651 broad.mit.edu 37 6 10626656 10626656 + Missense_Mutation SNP A A G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:10626656A>G uc010joo.2 + 5 1576 c.1025A>G c.(1024-1026)TAT>TGT p.Y342C GCNT2_uc010jol.2_Missense_Mutation_p.Y56C|GCNT2_uc010jom.2_RNA|GCNT2_uc010jop.2_RNA|GCNT2_uc003mza.2_RNA|GCNT2_uc003mzc.3_Missense_Mutation_p.Y341C|GCNT2_uc003mzd.2_Missense_Mutation_p.Y340C|GCNT2_uc003mze.2_Missense_Mutation_p.Y342C NM_145649 NP_663624 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, 342 Lumenal (Potential). Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2) 2 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) GCAGGCCACTATGTACATGGT 0.398 NaN 0 0 0 0.00499 0 17 167 TMEM14C 51522 broad.mit.edu 37 6 10726149 10726149 + Missense_Mutation SNP C C T rs146638335 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:10726149C>T uc003mzh.2 + 4 288 c.107C>T c.(106-108)CCG>CTG p.P36L TMEM14C_uc010joq.1_Missense_Mutation_p.P36L|TMEM14C_uc003mzi.2_Missense_Mutation_p.P36L NM_016462 NP_057546 Q9P0S9 TM14C_HUMAN transmembrane protein 14C 36 Helical; (Potential). heme biosynthetic process integral to membrane|mitochondrial membrane 0 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.135) Epithelial(50;0.246) GGCAGCGTGCCGTCCCTGGCT 0.547 NaN 0 0 0 0.013537 0 11 178 DEK 7913 broad.mit.edu 37 6 18256002 18256002 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:18256002C>G uc003ncr.1 - 6 726 c.533G>C c.(532-534)AGG>ACG p.R178T DEK_uc011djf.1_Missense_Mutation_p.R144T|DEK_uc011djg.1_RNA NM_003472 NP_003463 P35659 DEK_HUMAN DEK oncogene isoform 1 178 SAP. chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding kidney(1) 1 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) ATTCAAGATCCTCTTCACTAG 0.333 NaN T NUP214 AML 0 0 0 0.020292 0 14 231 PGBD1 84547 broad.mit.edu 37 6 28269137 28269137 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:28269137C>G uc003nky.2 + 7 1876 c.1506C>G c.(1504-1506)TTC>TTG p.F502L PGBD1_uc003nkz.2_Missense_Mutation_p.F502L NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 502 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 AATTGATTTTCTCAAACCTGC 0.373 NaN 0 0 0 0.01441 0 47 117 PGBD1 84547 broad.mit.edu 37 6 28269477 28269477 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:28269477G>A uc003nky.2 + 7 2216 c.1846G>A c.(1846-1848)GAG>AAG p.E616K PGBD1_uc003nkz.2_Missense_Mutation_p.E616K NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 616 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 TGTTCTTTTAGAGAGAGGTCA 0.418 NaN 0 0 0 0.01441 0 50 115 VPS52 6293 broad.mit.edu 37 6 33235699 33235699 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:33235699C>G uc003odm.1 - 9 1086 c.876G>C c.(874-876)CTG>CTC p.L292L VPS52_uc003odn.1_Silent_p.L167L|VPS52_uc003odo.1_Silent_p.L217L|VPS52_uc011dqy.1_Silent_p.L167L|VPS52_uc011dqz.1_Silent_p.L167L NM_022553 NP_072047 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 292 protein transport endosome membrane|Golgi apparatus ovary(4)|skin(1) 5 AAATCTTGCTCAGCGTCTCCA 0.522 NaN 0 0 0 0.008361 0 29 44 DST 667 broad.mit.edu 37 6 56464869 56464869 + Nonsense_Mutation SNP C C A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:56464869C>A uc003pdf.2 - 39 5363 c.5335G>T c.(5335-5337)GAG>TAG p.E1779* DST_uc003pcz.3_Nonsense_Mutation_p.E1601*|DST_uc011dxj.1_Nonsense_Mutation_p.E1630*|DST_uc011dxk.1_Nonsense_Mutation_p.E1641*|DST_uc003pcy.3_Nonsense_Mutation_p.E1275*|DST_uc010kaa.1_5'Flank NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 3687 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|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 ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AATTCTACCTCTTGCTTGGAC 0.358 NaN 1 0 2.17888e-05 0.006214 2.25107e-05 9 65 TMEM200A 114801 broad.mit.edu 37 6 130762710 130762710 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:130762710G>T uc003qca.2 + 3 2014 c.1143G>T c.(1141-1143)CAG>CAT p.Q381H TMEM200A_uc010kfh.2_Missense_Mutation_p.Q381H|TMEM200A_uc010kfi.2_Missense_Mutation_p.Q381H|TMEM200A_uc003qcb.2_Missense_Mutation_p.Q381H NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 381 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CCAGAAGACAGTTTGGGTCCA 0.522 NaN 1 0 2.35188e-11 0.006122 2.58556e-11 19 35 KIAA1244 57221 broad.mit.edu 37 6 138645190 138645190 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:138645190G>C uc003qhu.2 + 31 4900 c.4900G>C c.(4900-4902)GAG>CAG p.E1634Q NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 1634 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CAGCGGCACGGAGAGCTTCAG 0.652 NaN 0 0 0 0.020292 0 14 37 GRM1 2911 broad.mit.edu 37 6 146673612 146673612 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:146673612G>C uc010khw.1 + 5 1883 c.1413G>C c.(1411-1413)GAG>GAC p.E471D GRM1_uc010khv.1_Missense_Mutation_p.E471D|GRM1_uc003qll.2_Missense_Mutation_p.E471D|GRM1_uc011edz.1_Missense_Mutation_p.E471D|GRM1_uc011eea.1_Missense_Mutation_p.E471D NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 471 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGTTTGATGAGAAAGGAGACG 0.493 NaN 0 0 0 0.01441 0 54 110 TIAM2 26230 broad.mit.edu 37 6 155485726 155485726 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr6:155485726C>T uc003qqb.2 + 10 3479 c.2206C>T c.(2206-2208)CAT>TAT p.H736Y TIAM2_uc003qqe.2_Missense_Mutation_p.H736Y|TIAM2_uc010kjj.2_Missense_Mutation_p.H269Y|TIAM2_uc003qqf.2_Missense_Mutation_p.H88Y|TIAM2_uc011efl.1_Missense_Mutation_p.H48Y|TIAM2_uc003qqg.2_Missense_Mutation_p.H48Y NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 736 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TTCCTCTTTCCATGCTCTGGT 0.597 NaN 0 0 0 0.016522 0 23 117 TXNDC3 51314 broad.mit.edu 37 7 37934072 37934072 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:37934072G>C uc003tfn.2 + 16 1776 c.1404G>C c.(1402-1404)CAG>CAC p.Q468H NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 468 NDK 3. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 TCTTAGAGCAGATCCTGAAGA 0.328 NaN Kartagener_syndrome 0 0 0 0.016723 0 13 40 SEMA3D 223117 broad.mit.edu 37 7 84628906 84628906 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:84628906G>A uc003uic.2 - 17 2224 c.2184C>T c.(2182-2184)GAC>GAT p.D728D SEMA3D_uc010led.2_Silent_p.D728D|SEMA3D_uc003uib.2_Silent_p.D367D NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 728 cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 CGCAGTACTGGTCGAGGCTGA 0.502 NaN 0 0 0 0.004007 0 17 64 PON3 5446 broad.mit.edu 37 7 94989396 94989396 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:94989396G>A uc003unt.2 - 9 979 c.954C>T c.(952-954)ACC>ACT p.T318T PON1_uc011kih.1_Intron NM_000940 NP_000931 Q15166 PON3_HUMAN paraoxonase 3 318 aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus extracellular space aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity ovary(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) TGGCATACACGGTGCTCACCC 0.443 NaN 0 0 0 0.008361 0 30 46 TECPR1 25851 broad.mit.edu 37 7 97862208 97862208 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:97862208G>A uc003upg.2 - 12 1954 c.1749C>T c.(1747-1749)TTC>TTT p.F583F TECPR1_uc003uph.1_Silent_p.F513F NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 583 integral to membrane protein binding pancreas(1) 1 TGAGCTGCTGGAAGATCTGCT 0.632 NaN 0 0 0 0.014758 0 5 21 LAMB1 3912 broad.mit.edu 37 7 107601691 107601691 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:107601691G>A uc003vew.2 - 17 2404 c.2069C>T c.(2068-2070)TCT>TTT p.S690F LAMB1_uc003vev.2_Missense_Mutation_p.S714F|LAMB1_uc003vex.2_Missense_Mutation_p.S690F NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 690 Laminin IV type B. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCGCTATCAGAGGAGGTGTA 0.547 NaN 0 0 0 0.013537 0 11 51 ST7 7982 broad.mit.edu 37 7 116869938 116869938 + Missense_Mutation SNP A A C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:116869938A>C uc011knn.1 + 14 1470 c.1465A>C c.(1465-1467)ACC>CCC p.T489P ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b Error:Variant_position_missing_in_Q9NRC1_after_alignment integral to membrane binding central_nervous_system(1)|skin(1) 2 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) CACTCACCTCACCCGCCGCTG 0.507 NaN 0 0 0 0.01441 0 11 34 ZC3HC1 51530 broad.mit.edu 37 7 129688905 129688905 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:129688905C>G uc003vpi.2 - 2 253 c.226G>C c.(226-228)GAA>CAA p.E76Q NM_016478 NP_057562 Q86WB0 NIPA_HUMAN zinc finger, C3HC type 1 76 cell division|mitosis nucleus protein kinase binding|zinc ion binding 0 Melanoma(18;0.0435) AAGAAGGCTTCTTTGCTTGTA 0.408 NaN 0 0 0 0.013726 0 32 61 DENND2A 27147 broad.mit.edu 37 7 140255469 140255469 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:140255469C>G uc010lnj.2 - 10 2149 c.2004G>C c.(2002-2004)GTG>GTC p.V668V DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.V668V|DENND2A_uc003vvw.2_Silent_p.V668V|DENND2A_uc003vvx.2_Silent_p.V668V NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 668 DENN. ovary(3)|breast(1) 4 Melanoma(164;0.00956) CCAGGCGGCTCACAATGCAGT 0.522 NaN 0 0 0 0.012319 0 20 72 C7orf33 202865 broad.mit.edu 37 7 148312489 148312489 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:148312489G>A uc003wew.2 + 3 891 c.530G>A c.(529-531)AGT>AAT p.S177N NM_145304 NP_660347 Q8WU49 CG033_HUMAN hypothetical protein LOC202865 177 central_nervous_system(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) ACTGACAGCAGTTAAGAATTT 0.378 NaN 0 0 0 0.008871 0 20 72 KRBA1 84626 broad.mit.edu 37 7 149421876 149421876 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:149421876C>G uc003wfz.2 + 9 1461 c.1062C>G c.(1060-1062)CTC>CTG p.L354L KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Silent_p.L22L NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 354 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCAGCCCCTCAGTCCCTCAG 0.562 NaN 0 0 0 0.009096 0 4 7 MLL3 58508 broad.mit.edu 37 7 151902229 151902229 + Nonsense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:151902229G>C uc003wla.2 - 25 4142 c.3923C>G c.(3922-3924)TCA>TGA p.S1308* MLL3_uc003wkz.2_Nonsense_Mutation_p.S369* NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1308 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AATAGAGCCTGAGGAATCTTT 0.358 NaN N medulloblastoma 0 0 0 0.014758 0 5 25 DPP6 1804 broad.mit.edu 37 7 154659794 154659794 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr7:154659794G>T uc003wlk.2 + 18 1933 c.1804G>T c.(1804-1806)GAT>TAT p.D602Y DPP6_uc003wli.2_Missense_Mutation_p.D538Y|DPP6_uc003wlm.2_Missense_Mutation_p.D540Y|DPP6_uc011kvq.1_Missense_Mutation_p.D495Y NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 602 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CATTGAGATTGATGATTACAG 0.413 NaN 1 0 0.00909568 0.009096 0.00917594 4 12 DLC1 10395 broad.mit.edu 37 8 12957784 12957784 + Missense_Mutation SNP A A T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:12957784A>T uc003wwm.2 - 9 2506 c.2062T>A c.(2062-2064)TCA>ACA p.S688T DLC1_uc003wwk.1_Missense_Mutation_p.S251T|DLC1_uc003wwl.1_Missense_Mutation_p.S285T|DLC1_uc011kxx.1_Missense_Mutation_p.S177T NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 688 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 CCCAGCTTTGAGGGCGCTTTG 0.562 NaN 0 0 0 0.007413 0 19 28 ST18 9705 broad.mit.edu 37 8 53126796 53126796 + Missense_Mutation SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:53126796T>C uc003xqz.2 - 2 178 c.22A>G c.(22-24)AAA>GAA p.K8E ST18_uc011ldq.1_Translation_Start_Site|ST18_uc011ldr.1_Translation_Start_Site|ST18_uc011lds.1_Translation_Start_Site|ST18_uc003xra.2_Missense_Mutation_p.K8E|ST18_uc003xrb.2_Missense_Mutation_p.K8E|ST18_uc010lyb.2_RNA NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 8 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CGCAGCGTTTTATCTTCAGCC 0.428 NaN 0 0 0 0.007291 0 29 47 RPS20 6224 broad.mit.edu 37 8 56986683 56986683 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:56986683C>T uc003xsn.2 - 2 237 c.39G>A c.(37-39)CCG>CCA p.P13P RPS20_uc003xsm.2_Silent_p.P13P|SNORD54_uc003xso.1_5'Flank|RPS20_uc011lea.1_5'Flank NM_001023 NP_001014 P60866 RS20_HUMAN ribosomal protein S20 isoform 2 13 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155) Epithelial(17;0.00117)|all cancers(17;0.00879) TTGCCACCTCCGGCTCCACGG 0.463 NaN 0 0 0 0.010729 0 11 98 PENK 5179 broad.mit.edu 37 8 57354059 57354059 + Silent SNP G G A rs145346210 TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:57354059G>A uc003xsz.2 - 2 657 c.576C>T c.(574-576)GGC>GGT p.G192G PENK_uc003xta.3_Silent_p.G192G NM_006211 NP_006202 P01210 PENK_HUMAN proenkephalin 192 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) TTCTCTTTAAGCCTCTCATGA 0.527 NaN 0 0 0 0.01441 0 60 78 PREX2 80243 broad.mit.edu 37 8 69005891 69005891 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:69005891C>T uc003xxv.1 + 21 2329 c.2302C>T c.(2302-2304)CTT>TTT p.L768F PREX2_uc003xxu.1_Missense_Mutation_p.L768F|PREX2_uc011lez.1_Missense_Mutation_p.L703F NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 768 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.L768I(1) skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 TCAAGAAGACCTTCAAAAATC 0.408 NaN 0 0 0 0.00499 0 18 141 EYA1 2138 broad.mit.edu 37 8 72211939 72211939 + Silent SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:72211939T>A uc003xys.3 - 7 860 c.573A>T c.(571-573)ACA>ACT p.T191T EYA1_uc003xyr.3_Silent_p.T186T|EYA1_uc003xyt.3_Silent_p.T158T|EYA1_uc010lzf.2_Silent_p.T118T|EYA1_uc003xyu.2_Silent_p.T191T|EYA1_uc011lfe.1_Silent_p.T185T|EYA1_uc003xyv.2_Silent_p.T69T NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 191 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TTCCTGATGATGTTGTAAAAC 0.318 NaN 0 0 0 0.020292 0 13 91 JPH1 56704 broad.mit.edu 37 8 75156998 75156998 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:75156998C>T uc003yae.2 - 4 1711 c.1671G>A c.(1669-1671)CTG>CTA p.L557L JPH1_uc003yaf.2_Silent_p.L557L|JPH1_uc003yag.1_Silent_p.L421L NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 557 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GGGGGGCGTTCAGCTTCACGT 0.602 NaN 0 0 0 0.006122 0 18 97 MATN2 4147 broad.mit.edu 37 8 98943551 98943551 + Silent SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:98943551G>C uc003yic.2 + 3 744 c.513G>C c.(511-513)GGG>GGC p.G171G MATN2_uc003yib.1_Silent_p.G171G|MATN2_uc010mbh.1_Silent_p.G171G|MATN2_uc003yid.2_Silent_p.G171G|MATN2_uc003yie.1_Silent_p.G171G|MATN2_uc010mbi.1_Silent_p.G45G NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 171 VWFA 1. proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TGACAGATGGGAGACCTCAGG 0.582 NaN 0 0 0 0.006214 0 7 31 RGS22 26166 broad.mit.edu 37 8 101074892 101074892 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:101074892C>G uc003yjb.1 - 9 1636 c.1441G>C c.(1441-1443)GAT>CAT p.D481H RGS22_uc003yja.1_Missense_Mutation_p.D300H|RGS22_uc003yjc.1_Missense_Mutation_p.D469H|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 481 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TGTGATCCATCTAACAGTTTA 0.308 NaN 0 0 0 0.001168 0 5 115 RGS22 26166 broad.mit.edu 37 8 101074973 101074973 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:101074973C>T uc003yjb.1 - 9 1555 c.1360G>A c.(1360-1362)GAG>AAG p.E454K RGS22_uc003yja.1_Missense_Mutation_p.E273K|RGS22_uc003yjc.1_Missense_Mutation_p.E442K|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 454 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TTCATCTTCTCAAGATGTCTG 0.313 NaN 0 0 0 0.014758 0 5 92 LRP12 29967 broad.mit.edu 37 8 105511547 105511547 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:105511547G>A uc003yma.2 - 4 568 c.473C>T c.(472-474)TCA>TTA p.S158L LRP12_uc003ymb.2_Missense_Mutation_p.S139L NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 158 Extracellular (Potential).|CUB 1. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) AAACACACCTGAAAAATATGC 0.353 NaN 0 0 0 0.004482 0 8 123 COL22A1 169044 broad.mit.edu 37 8 139691860 139691860 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:139691860C>T uc003yvd.2 - 40 3519 c.3072G>A c.(3070-3072)AAG>AAA p.K1024K COL22A1_uc011ljo.1_Intron NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1024 Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTTCACTGACCTTAACACATT 0.348 NaN HNSCC(7;0.00092) 0 0 0 0.013537 0 12 70 SHARPIN 81858 broad.mit.edu 37 8 145154091 145154091 + Nonsense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:145154091G>A uc003zba.2 - 7 1424 c.940C>T c.(940-942)CAG>TAG p.Q314* SHARPIN_uc003zbb.2_Intron NM_030974 NP_112236 Q9H0F6 SHRPN_HUMAN shank-interacting protein-like 1 314 negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway cytosol|LUBAC complex polyubiquitin binding|zinc ion binding ovary(1) 1 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;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGGGGGTGCTGAGGGCTAGGT 0.672 NaN 0 0 0 0.016723 0 13 18 ZNF7 7553 broad.mit.edu 37 8 146068516 146068516 + Nonsense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:146068516C>G uc003zeg.3 + 5 2161 c.2024C>G c.(2023-2025)TCA>TGA p.S675* ZNF7_uc010mge.2_Nonsense_Mutation_p.S686*|ZNF7_uc011lln.1_Nonsense_Mutation_p.S579*|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Nonsense_Mutation_p.S579*|COMMD5_uc003zel.1_Intron NM_003416 NP_003407 P17097 ZNF7_HUMAN zinc finger protein 7 675 C2H2-type 15. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) AATCGTAGCTCAAGGCTTACC 0.358 NaN 0 0 0 0.01441 0 62 83 RFX3 5991 broad.mit.edu 37 9 3263030 3263030 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:3263030G>A uc003zhr.2 - 14 1822 c.1510C>T c.(1510-1512)CAC>TAC p.H504Y RFX3_uc010mhd.2_Missense_Mutation_p.H504Y|RFX3_uc003zhs.1_Missense_Mutation_p.H504Y NM_134428 NP_602304 P48380 RFX3_HUMAN regulatory factor X3 isoform b 504 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) TGGGCCAGGTGATTAAGCGAC 0.493 NaN 0 0 0 0.00623 0 42 38 GLIS3 169792 broad.mit.edu 37 9 4118290 4118290 + Silent SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:4118290T>C uc003zhw.1 - 3 917 c.723A>G c.(721-723)CAA>CAG p.Q241Q GLIS3_uc003zhx.1_Silent_p.Q396Q|GLIS3_uc003zic.1_Silent_p.Q396Q|GLIS3_uc003zie.1_Silent_p.Q396Q|GLIS3_uc010mhh.1_Silent_p.Q271Q|GLIS3_uc003zid.1_Silent_p.Q174Q|GLIS3_uc010mhi.1_Silent_p.Q203Q|GLIS3_uc003zif.1_Silent_p.Q174Q|GLIS3_uc003zig.1_Silent_p.Q240Q|GLIS3_uc003zih.1_Silent_p.Q174Q|GLIS3_uc003zhy.1_Silent_p.Q174Q|GLIS3_uc003zhz.1_Silent_p.Q174Q|GLIS3_uc003zib.1_Silent_p.Q240Q|GLIS3_uc010mhg.1_Silent_p.Q174Q NM_152629 NP_689842 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 isoform b 241 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GCTCCAGCTGTTGCATGCGCT 0.731 NaN 0 0 0 0.004672 0 3 1 CNTNAP3 79937 broad.mit.edu 37 9 39109271 39109271 + Missense_Mutation SNP T T C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:39109271T>C uc004abi.2 - 15 2490 c.2251A>G c.(2251-2253)ATA>GTA p.I751V CNTNAP3_uc004abj.2_Missense_Mutation_p.I750V|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.I751V NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN cell recognition molecule CASPR3 precursor 751 Fibrinogen C-terminal.|Extracellular (Potential). cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAAGGACTATTGTGTCACTA 0.433 NaN 0 0 0 0.010729 0 11 8 PRUNE2 158471 broad.mit.edu 37 9 79441572 79441572 + Silent SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:79441572C>G uc010mpk.2 - 5 709 c.585G>C c.(583-585)CTG>CTC p.L195L PRUNE2_uc004akn.2_Silent_p.L195L NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 195 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 ATTTTTCTTCCAGGATAGAAA 0.443 NaN 0 0 0 0.003163 0 16 88 OGN 4969 broad.mit.edu 37 9 95152326 95152326 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:95152326C>G uc004asa.2 - 5 675 c.440G>C c.(439-441)AGA>ACA p.R147T CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|OGN_uc004asb.2_Missense_Mutation_p.R147T|OGN_uc011ltx.1_Missense_Mutation_p.R165T NM_014057 NP_054776 P20774 MIME_HUMAN osteoglycin preproprotein 147 LRR 2. extracellular space|proteinaceous extracellular matrix growth factor activity 0 AAAATCGAGTCTTCTTAAGTT 0.294 NaN 0 0 0 0.020292 0 13 33 BICD2 23299 broad.mit.edu 37 9 95481333 95481333 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:95481333C>T uc004aso.1 - 5 1651 c.1594G>A c.(1594-1596)GAG>AAG p.E532K BICD2_uc004asp.1_Missense_Mutation_p.E532K NM_015250 NP_056065 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 isoform 2 532 Potential. microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding skin(1) 1 GCCAGCTCCTCACTGAAGGTC 0.632 NaN 0 0 0 0.008361 0 28 28 LPPR1 54886 broad.mit.edu 37 9 104048468 104048468 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:104048468G>C uc004bbb.2 + 4 734 c.335G>C c.(334-336)GGA>GCA p.G112A LPPR1_uc011lvi.1_Missense_Mutation_p.G88A|LPPR1_uc004bbc.2_Missense_Mutation_p.G112A|LPPR1_uc010mtc.2_Missense_Mutation_p.G96A NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN plasticity related gene 3 112 integral to membrane catalytic activity 0 ATTCTGACCGGAGAATGCTGT 0.373 NaN 0 0 0 0.020292 0 15 53 RGS3 5998 broad.mit.edu 37 9 116346235 116346235 + Missense_Mutation SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:116346235C>T uc004bhq.2 + 21 2752 c.2543C>T c.(2542-2544)GCG>GTG p.A848V RGS3_uc004bhs.2_Missense_Mutation_p.A738V|RGS3_uc004bht.2_Missense_Mutation_p.A567V|RGS3_uc010muy.2_Intron|RGS3_uc004bhv.2_Missense_Mutation_p.A169V|RGS3_uc010muz.1_Missense_Mutation_p.A187V|RGS3_uc004bhw.2_Intron|RGS3_uc011lxh.1_Missense_Mutation_p.A158V|RGS3_uc004bhx.2_Missense_Mutation_p.A169V|RGS3_uc004bhy.1_Missense_Mutation_p.A158V|RGS3_uc004bhz.2_Missense_Mutation_p.A190V NM_144488 NP_652759 P49796 RGS3_HUMAN regulator of G-protein signalling 3 isoform 6 848 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 GACCCACCTGCGGCCCCCAGG 0.617 NaN 0 0 0 0.006999 0 41 49 DDX31 64794 broad.mit.edu 37 9 135523856 135523856 + Missense_Mutation SNP T T A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr9:135523856T>A uc004cbq.1 - 10 1290 c.1138A>T c.(1138-1140)AGT>TGT p.S380C DDX31_uc010mzu.1_Missense_Mutation_p.S380C|DDX31_uc004cbr.1_Missense_Mutation_p.S380C NM_022779 NP_073616 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 380 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) CGCAGCCGACTAAAATGAATG 0.433 NaN 0 0 0 0.00623 0 37 112 KDM6A 7403 broad.mit.edu 37 X 44870231 44870231 + Missense_Mutation SNP G G T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 G T G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chrX:44870231G>T uc004dge.3 + 5 785 c.410G>T c.(409-411)GGT>GTT p.G137V KDM6A_uc010nhk.2_Missense_Mutation_p.G137V|KDM6A_uc011mkz.1_Missense_Mutation_p.G137V|KDM6A_uc011mla.1_Missense_Mutation_p.G137V|KDM6A_uc011mlb.1_Missense_Mutation_p.G137V|KDM6A_uc011mlc.1_5'UTR NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 137 TPR 2. 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(2)|p.?(1) kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TATGGTCTTGGTTTGGTCTAC 0.299 NaN D|N|F|S renal|oesophageal SCC|MM 1 0 5.18039e-06 0.00308 5.4173e-06 6 6 WNK3 65267 broad.mit.edu 37 X 54265480 54265480 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chrX:54265480G>A uc004dtd.1 - 18 4143 c.3704C>T c.(3703-3705)GCT>GTT p.A1235V WNK3_uc004dtc.1_Missense_Mutation_p.A1235V NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 1235 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 GCTTGACACAGCAGCAGGATA 0.388 NaN 0 0 0 0.004672 0 3 17 ALAS2 212 broad.mit.edu 37 X 55050275 55050275 + Silent SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chrX:55050275G>A uc004dua.3 - 4 468 c.330C>T c.(328-330)GTC>GTT p.V110V ALAS2_uc004dub.3_Intron|ALAS2_uc004dud.3_Intron NM_000032 NP_000023 P22557 HEM0_HUMAN 5-aminolevulinate synthase 2 isoform a 110 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(1) 1 Glycine(DB00145) TCCTTAGGCTGACTGAGACCA 0.507 NaN 0 0 0 0.004672 0 3 6 ACRC 93953 broad.mit.edu 37 X 70811992 70811992 + Nonsense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chrX:70811992C>G uc004eae.2 + 3 581 c.80C>G c.(79-81)TCA>TGA p.S27* BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 27 nucleus ovary(3) 3 Renal(35;0.156) AATGTTCAGTCAAGCAGTGAT 0.383 NaN 0 0 0 0.00499 0 15 16 FGF13 2258 broad.mit.edu 37 X 137790983 137790983 + Missense_Mutation SNP A A T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chrX:137790983A>T uc004fam.2 - 2 957 c.295T>A c.(295-297)TAC>AAC p.Y99N FGF13_uc004fan.2_Missense_Mutation_p.Y46N|FGF13_uc011mwi.1_Missense_Mutation_p.Y80N|FGF13_uc004faq.2_Missense_Mutation_p.Y109N|FGF13_uc004far.2_Missense_Mutation_p.Y80N|FGF13_uc011mwj.1_Missense_Mutation_p.Y109N|FGF13_uc011mwk.1_Missense_Mutation_p.Y53N NM_004114 NP_004105 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 1 99 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) CACTTACTGTAAGTGCTGTCC 0.383 NaN 0 0 0 0.012213 0 31 50 CDR1 1038 broad.mit.edu 37 X 139866323 139866323 + Missense_Mutation SNP G G A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chrX:139866323G>A uc004fbg.1 - 1 401 c.209C>T c.(208-210)TCG>TTG p.S70L uc004fbf.1_RNA NM_004065 NP_004056 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 70 23 X 6 AA approximate repeats.|12. 0 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CATAGCTTCCGAAAAATCCAG 0.453 NaN 0 0 0 0.015359 0 34 40 PRDM16 63976 broad.mit.edu 37 1 3160668 3160668 + Frame_Shift_Del DEL G G - TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:3160668delG uc001akf.2 + 3 485 c.405delG c.(403-405)GTGfs p.V135fs PRDM16_uc001akc.2_Frame_Shift_Del_p.V135fs|PRDM16_uc001akd.2_Frame_Shift_Del_p.V135fs|PRDM16_uc001ake.2_Frame_Shift_Del_p.V135fs|PRDM16_uc009vlh.2_5'UTR NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 135 SET. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TGACGGACGTGGAAGTGTCGC 0.557 NaN T EVI1 MDS|AML NaN NaN NaN NaN NaN 23 67 --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr1:162326888_162326890delCAG uc001gbv.2 + 8 1288_1290 c.901_903delCAG c.(901-903)CAGdel p.Q306del NOS1AP_uc010pkr.1_In_Frame_Del_p.Q301del|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_In_Frame_Del_p.Q301del NM_014697 NP_055512 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding lung(2)|upper_aerodigestive_tract(1) 3 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.512 NaN NaN NaN NaN NaN NaN 9 227 --- --- OR51I2 390064 broad.mit.edu 37 11 5475260 5475261 + Frame_Shift_Ins INS - - C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:5475260_5475261insC uc010qzf.1 + 1 542_543 c.542_543insC c.(541-543)CACfs p.H181fs HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004754 NP_001004754 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACTGCCTGCACCCAGACATGA 0.46 NaN NaN NaN NaN NaN NaN 34 41 --- --- SAPS3 55291 broad.mit.edu 37 11 68331787 68331788 + Frame_Shift_Ins INS - - A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr11:68331787_68331788insA uc001onw.2 + 9 1129_1130 c.862_863insA c.(862-864)GAGfs p.E288fs SAPS3_uc001onv.2_Frame_Shift_Ins_p.E288fs|SAPS3_uc001ony.3_Frame_Shift_Ins_p.E288fs|SAPS3_uc001onx.2_Frame_Shift_Ins_p.E288fs|SAPS3_uc009ysh.2_Frame_Shift_Ins_p.E288fs|SAPS3_uc001onu.2_Frame_Shift_Ins_p.E288fs|SAPS3_uc010rqc.1_Intron|SAPS3_uc010rqd.1_5'UTR NM_001164161 NP_001157633 Q5H9R7 PP6R3_HUMAN SAPS domain family, member 3 isoform 6 288 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding 0 LUAD - Lung adenocarcinoma(13;0.102) AGGCCATATAGAGATCTGCCCA 0.376 NaN NaN NaN NaN NaN NaN 55 94 --- --- ZNF317 57693 broad.mit.edu 37 19 9272093 9272093 + Frame_Shift_Del DEL G G - TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr19:9272093delG uc002mku.2 + 7 2047 c.1772delG c.(1771-1773)TGGfs p.W591fs ZNF317_uc002mkv.2_Frame_Shift_Del_p.W450fs|ZNF317_uc002mkw.2_Frame_Shift_Del_p.W559fs|ZNF317_uc002mkx.2_Frame_Shift_Del_p.W506fs|ZNF317_uc002mky.2_Frame_Shift_Del_p.W474fs NM_020933 NP_065984 Q96PQ6 ZN317_HUMAN zinc finger protein 317 591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCATCCGTGTGGAAAAGGCTC 0.557 NaN NaN NaN NaN NaN NaN 17 28 --- --- SPATA2 9825 broad.mit.edu 37 20 48522186 48522187 + Frame_Shift_Del DEL GG GG - TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr20:48522186_48522187delGG uc010gie.2 - 3 1882_1883 c.1532_1533delCC c.(1531-1533)TCCfs p.S511fs SPATA2_uc002xuw.2_Frame_Shift_Del_p.S511fs|SPATA2_uc010zyn.1_Frame_Shift_Del_p.S374fs NM_001135773 NP_001129245 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 511 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) AGAGCTGGGTGGACTTGTAGTT 0.54 NaN NaN NaN NaN NaN NaN 10 100 --- --- EIF4ENIF1 56478 broad.mit.edu 37 22 31884623 31884623 + Frame_Shift_Del DEL G G - TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr22:31884623delG uc003akz.1 - 2 246 c.82delC c.(82-84)CATfs p.H28fs EIF4ENIF1_uc003ala.1_Frame_Shift_Del_p.H28fs|EIF4ENIF1_uc003alb.1_Frame_Shift_Del_p.H28fs|EIF4ENIF1_uc003alc.1_Frame_Shift_Del_p.H28fs NM_019843 NP_062817 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E 28 nucleus protein binding|protein transporter activity ovary(1) 1 GTATAGCGATGGGGGCATTTG 0.413 NaN NaN NaN NaN NaN NaN 33 21 --- --- FLJ43860 389690 broad.mit.edu 37 8 142459777 142459778 + Frame_Shift_Ins INS - - A rs144781370 by1000genomes TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chr8:142459777_142459778insA uc003ywi.2 - 20 2630_2631 c.2549_2550insT c.(2548-2550)CTGfs p.L850fs FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 850 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GCAGACAGGCCAGCAGTGTGGT 0.678 NaN NaN NaN NaN NaN NaN 8 2 --- --- MAP3K15 389840 broad.mit.edu 37 X 19390910 19390910 + Frame_Shift_Del DEL C C - TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c1352a-5aef-4cde-abf0-be423ff182ca 73723653-3c35-4915-9c0a-3298a6251202 g.chrX:19390910delC uc004czk.1 - 23 3031 c.1394delG c.(1393-1395)GGCfs p.G465fs MAP3K15_uc004czj.1_Frame_Shift_Del_p.G425fs|MAP3K15_uc004czi.1_5'UTR NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 990 ATP binding|MAP kinase kinase kinase activity|metal ion binding ovary(3)|lung(2)|stomach(1)|skin(1) 7 Hepatocellular(33;0.183) CGAGGCCAAGCCCCGGTCTTC 0.612 NaN NaN NaN NaN NaN NaN 20 37 --- ---