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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut ENO1 2023 broad.mit.edu 37 1 8934896 8934896 + Silent SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:8934896G>C uc001apj.1 - 2 223 c.72C>G c.(70-72)CTC>CTG p.L24L ENO1_uc001apk.1_5'UTR|ENO1_uc001apl.1_Silent_p.L24L|ENO1_uc009vmi.1_Silent_p.L24L|ENO1_uc009vmj.1_Silent_p.L24L|ENO1_uc009vmk.1_Missense_Mutation_p.S18C|ENO1_uc009vml.1_Silent_p.L24L|ENO1_uc009vmm.1_RNA NM_001428 NP_001419 P06733 ENOA_HUMAN enolase 1 24 gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|kidney(1)|central_nervous_system(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) TTGAGGTGAAGAGATCAACCT 0.438 Esophageal Squamous(21;302 608 19946 22210 33560) NA 11 79 0 0 0.004007 0 0 C1QB 713 broad.mit.edu 37 1 22986043 22986043 + Missense_Mutation SNP A A C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:22986043A>C uc001bgd.2 + 2 226 c.94A>C c.(94-96)ACC>CCC p.T32P NM_000491 NP_000482 P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 32 complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GCTCAGCTGCACCGGGCCCCC 0.597 NA 15 130 0 0 0.007413 0 0 IQCC 55721 broad.mit.edu 37 1 32672200 32672200 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:32672200G>A uc001bum.2 + 3 324 c.277G>A c.(277-279)GAG>AAG p.E93K IQCC_uc009vua.2_Missense_Mutation_p.E173K|IQCC_uc010ogz.1_5'UTR|DCDC2B_uc001bun.2_5'Flank NM_018134 NP_060604 Q4KMZ1 IQCC_HUMAN IQ motif containing C isoform 2 93 ovary(4) 4 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TGAAGAGTCTGAGGGAGAGGC 0.532 NA 10 64 0 0 0.006214 0 0 GRIK3 2899 broad.mit.edu 37 1 37346391 37346391 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:37346391G>T uc001caz.2 - 3 529 c.394C>A c.(394-396)CAC>AAC p.H132N GRIK3_uc001cba.1_Missense_Mutation_p.H132N NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 132 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) AGCTGGATGTGGGGCACCTCC 0.622 NA 16 137 1.15088e-07 1.23538e-07 0.004007 1 0 CYP4B1 1580 broad.mit.edu 37 1 47278291 47278291 + Missense_Mutation SNP T T C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:47278291T>C uc001cqm.3 + 4 575 c.491T>C c.(490-492)ATG>ACG p.M164T CYP4B1_uc009vyl.1_Missense_Mutation_p.M1T|CYP4B1_uc001cqn.3_Missense_Mutation_p.M164T|CYP4B1_uc009vym.2_Missense_Mutation_p.M149T|CYP4B1_uc010omk.1_Missense_Mutation_p.M1T|CYP4B1_uc010oml.1_Missense_Mutation_p.M1T NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 164 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) ACACGTATCATGCTGGTGAGC 0.577 NA 52 271 0 0 0.01441 0 0 NFIA 4774 broad.mit.edu 37 1 61818168 61818168 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:61818168G>C uc001czw.2 + 5 1231 c.747G>C c.(745-747)TTG>TTC p.L249F NFIA_uc001czy.2_Missense_Mutation_p.L241F|NFIA_uc010oos.1_Missense_Mutation_p.L294F|NFIA_uc001czv.2_Missense_Mutation_p.L249F NM_001134673 NP_001128145 Q12857 NFIA_HUMAN nuclear factor I/A isoform 1 249 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1)|skin(1) 2 TCTCAGATTTGGAAAGTTCTT 0.378 NA 12 117 0 0 0.004007 0 0 ANKRD13C 81573 broad.mit.edu 37 1 70819665 70819665 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:70819665G>C uc001dex.3 - 1 753 c.427C>G c.(427-429)CAC>GAC p.H143D ANKRD13C_uc009wbk.2_Missense_Mutation_p.H143D|ANKRD13C_uc001dey.3_Missense_Mutation_p.H143D|HHLA3_uc010oqp.1_5'Flank|HHLA3_uc001dfa.2_5'Flank|HHLA3_uc001dfb.2_5'Flank|HHLA3_uc001dfc.2_5'Flank NM_030816 NP_110443 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C 143 ANK 2. protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding 0 TCCTCACCGTGATTATCTTTC 0.602 NA 5 34 0 0 0.001168 0 0 ELTD1 64123 broad.mit.edu 37 1 79412033 79412033 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:79412033C>T uc001diq.3 - 3 407 c.251G>A c.(250-252)TGT>TAT p.C84Y NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 84 Extracellular (Potential).|EGF-like 2; calcium-binding (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TACACACATACAATAATAACT 0.363 NA 9 59 0 0 0.006214 0 0 EXTL2 2135 broad.mit.edu 37 1 101339615 101339615 + Missense_Mutation SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:101339615C>A uc001dtk.1 - 5 1213 c.876G>T c.(874-876)CAG>CAT p.Q292H EXTL2_uc001dtl.1_Missense_Mutation_p.Q292H|EXTL2_uc010ouk.1_Missense_Mutation_p.Q279H|EXTL2_uc001dtm.1_Missense_Mutation_p.Q291H NM_001439 NP_001430 Q9UBQ6 EXTL2_HUMAN exostoses-like 2 292 Lumenal (Potential). N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding skin(1) 1 all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195) AATAAGACCTCTGCAGAGCGT 0.393 NA 17 152 1.15919e-05 1.23138e-05 0.008871 1 0 KIAA1324 57535 broad.mit.edu 37 1 109716178 109716178 + Missense_Mutation SNP T T C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:109716178T>C uc001dwq.2 + 7 915 c.779T>C c.(778-780)CTG>CCG p.L260P KIAA1324_uc009wex.1_Missense_Mutation_p.L260P|KIAA1324_uc009wey.2_Missense_Mutation_p.L260P|KIAA1324_uc010ovg.1_Missense_Mutation_p.L158P NM_020775 NP_065826 Q6UXG2 K1324_HUMAN hypothetical protein LOC57535 precursor 260 Extracellular (Potential). macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 5 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) AAGCCTGTGCTGGTGAGAAAC 0.493 NA 5 152 0 0 0.001984 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:145367739A>G uc001end.3 + 85 10595 c.10560A>G c.(10558-10560)AAA>AAG p.K3520K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3445 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.244 NA 4 48 0 0 0.009096 0 0 TCHH 7062 broad.mit.edu 37 1 152083948 152083948 + Missense_Mutation SNP T T A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:152083948T>A uc001ezp.2 - 2 1745 c.1745A>T c.(1744-1746)GAG>GTG p.E582V TCHH_uc009wne.1_Missense_Mutation_p.E582V NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 582 9 X 28 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) CCTCTCCTCCTCGCGCTTCAG 0.667 NA 7 43 0 0 0.004482 0 0 HRNR 388697 broad.mit.edu 37 1 152190895 152190895 + Silent SNP T T G rs144504025 byFrequency TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:152190895T>G uc001ezt.1 - 3 3286 c.3210A>C c.(3208-3210)TCA>TCC p.S1070S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1070 12. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGGAATGACCTGAGCTAGATC 0.562 NA 8 310 0 0 0.008291 0 0 FLG2 388698 broad.mit.edu 37 1 152323126 152323126 + Nonsense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:152323126G>C uc001ezw.3 - 3 7209 c.7136C>G c.(7135-7137)TCA>TGA p.S2379* uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 2379 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGTCTGTTGACCATGAAAG 0.438 NA 44 270 0 0 0.01441 0 0 IL6R 3570 broad.mit.edu 37 1 154420621 154420621 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:154420621G>C uc001fez.1 + 7 1407 c.970G>C c.(970-972)GAG>CAG p.E324Q IL6R_uc001ffa.1_Missense_Mutation_p.E324Q NM_000565 NP_000556 P08887 IL6RA_HUMAN interleukin 6 receptor isoform 1 precursor 324 Extracellular (Potential). acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity ovary(3)|breast(1) 4 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TCCTCCAGCTGAGAACGAGGT 0.463 NA 20 133 0 0 0.021523 0 0 DCST2 127579 broad.mit.edu 37 1 155001740 155001740 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:155001740C>T uc001fgm.2 - 8 1391 c.1311G>A c.(1309-1311)CGG>CGA p.R437R DCST2_uc009wpb.2_RNA NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 437 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCAGCTGGTGCCGGGCCAGGT 0.587 NA 8 98 0 0 0.008291 0 0 SCAMP3 10067 broad.mit.edu 37 1 155230148 155230148 + Nonsense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:155230148G>A uc001fjs.2 - 4 614 c.361C>T c.(361-363)CAG>TAG p.Q121* RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'UTR|SCAMP3_uc001fju.2_Nonsense_Mutation_p.Q121*|SCAMP3_uc001fjv.2_Nonsense_Mutation_p.Q121*|SCAMP3_uc001fjt.2_Nonsense_Mutation_p.Q95* NM_005698 NP_005689 O14828 SCAM3_HUMAN secretory carrier membrane protein 3 isoform 1 121 Cytoplasmic (Potential). post-Golgi vesicle-mediated transport|protein transport integral to membrane ovary(3) 3 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCAGCATGCTGCAGCTCTCGC 0.582 NA 21 126 0 0 0.021523 0 0 FCRL3 115352 broad.mit.edu 37 1 157665172 157665172 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:157665172G>T uc001frb.2 - 8 1650 c.1358C>A c.(1357-1359)GCA>GAA p.A453E FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.A453E|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.A179E|FCRL3_uc001frc.1_Missense_Mutation_p.A453E NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 453 Ig-like C2-type 5.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) GCCATTGTCTGCATCACAGGA 0.537 NA 54 633 1.93748e-29 2.40812e-29 0.01441 1 0 ATP1A4 480 broad.mit.edu 37 1 160141394 160141394 + Silent SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:160141394G>C uc001fve.3 + 12 2180 c.1701G>C c.(1699-1701)CTG>CTC p.L567L ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Silent_p.L70L NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 567 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCTTGAATCTGCCTAGCAGCT 0.458 NA 5 213 0 0 0.001168 0 0 RALGPS2 55103 broad.mit.edu 37 1 178745932 178745932 + Silent SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:178745932C>G uc001glz.2 + 2 371 c.33C>G c.(31-33)GTC>GTG p.V11V RALGPS2_uc001gly.1_Silent_p.V11V|RALGPS2_uc010pnb.1_Silent_p.V11V NM_152663 NP_689876 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 11 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding 0 CAAGCAGTGTCAATATTGCAG 0.433 NA 28 241 0 0 0.015359 0 0 FAM5C 339479 broad.mit.edu 37 1 190195450 190195450 + Splice_Site SNP T T A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:190195450T>A uc001gse.1 - 6 957 c.725_splice c.e6-1 p.G242_splice FAM5C_uc010pot.1_Splice_Site_p.G140_splice NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) CTTGAAGCCCTTGAAGAACAA 0.299 NA 14 57 0 0 0.004007 0 0 C1orf186 440712 broad.mit.edu 37 1 206241647 206241647 + Missense_Mutation SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:206241647C>A uc001hdt.1 - 4 781 c.142G>T c.(142-144)GCC>TCC p.A48S NM_001007544 NP_001007545 Q6ZWK4 CA186_HUMAN hypothetical protein LOC440712 48 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(75;0.0754) TGGAGACTGGCCGCTTTCAGT 0.448 NA 6 57 0.00198382 0.00205754 0.001984 1 0 C1orf74 148304 broad.mit.edu 37 1 209956824 209956824 + Silent SNP T T A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:209956824T>A uc001hhp.1 - 2 399 c.156A>T c.(154-156)CCA>CCT p.P52P NM_152485 NP_689698 Q96LT6 CA074_HUMAN hypothetical protein LOC148304 52 skin(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0328) AGAGCACAGCTGGCTTCAGTC 0.577 NA 27 203 0 0 0.005443 0 0 ESRRG 2104 broad.mit.edu 37 1 216824354 216824354 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:216824354G>T uc001hkw.1 - 3 716 c.550C>A c.(550-552)CGC>AGC p.R184S ESRRG_uc001hky.1_Missense_Mutation_p.R161S|ESRRG_uc009xdp.1_Missense_Mutation_p.R161S|ESRRG_uc001hkz.1_Intron|ESRRG_uc010puc.1_Missense_Mutation_p.R161S|ESRRG_uc001hla.1_Missense_Mutation_p.R161S|ESRRG_uc001hlb.1_Missense_Mutation_p.R161S|ESRRG_uc010pud.1_5'UTR|ESRRG_uc001hlc.1_Missense_Mutation_p.R161S|ESRRG_uc001hld.1_Missense_Mutation_p.R161S|ESRRG_uc001hkx.1_Missense_Mutation_p.R189S|ESRRG_uc009xdo.1_Missense_Mutation_p.R161S|ESRRG_uc001hle.1_Missense_Mutation_p.R161S NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 184 Nuclear receptor.|NR C4-type. positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TTCATGAAGCGGCAAGCCTGG 0.448 NA 42 104 2.46787e-29 3.05499e-29 0.01441 1 0 ABCB10 23456 broad.mit.edu 37 1 229683401 229683401 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:229683401G>C uc001htp.3 - 3 809 c.766C>G c.(766-768)CTG>GTG p.L256V NM_012089 NP_036221 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B, member 10 256 Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).|ABC transmembrane type-1. integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(2) 2 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) TCCTGCCTCAGAATGGAGGAG 0.478 NA 16 74 0 0 0.00499 0 0 HEATR1 55127 broad.mit.edu 37 1 236755306 236755306 + Missense_Mutation SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:236755306C>A uc001hyd.1 - 11 1534 c.1409G>T c.(1408-1410)GGA>GTA p.G470V NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 470 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ATACTTTCCTCCACTTGTAGA 0.368 NA 25 100 3.90053e-15 4.51872e-15 0.012213 1 0 OR2M4 26245 broad.mit.edu 37 1 248402705 248402705 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:248402705G>A uc010pzh.1 + 1 475 c.475G>A c.(475-477)GTG>ATG p.V159M NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 159 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGGGATCATAGTGCTTGCAGC 0.453 NA 90 264 0 0 0.01441 0 0 OR2T4 127074 broad.mit.edu 37 1 248525348 248525348 + Missense_Mutation SNP G G A rs141849195 byFrequency TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:248525348G>A uc001ieh.1 + 1 466 c.466G>A c.(466-468)GTG>ATG p.V156M NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 156 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGACCGCTACGTGGCCATCTG 0.527 NA 46 498 0 0 0.01441 0 0 ANKRD16 54522 broad.mit.edu 37 10 5922263 5922263 + Nonsense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr10:5922263G>C uc010qat.1 - 6 1469 c.926C>G c.(925-927)TCA>TGA p.S309* ANKRD16_uc009xie.2_Intron|ANKRD16_uc009xif.2_Nonsense_Mutation_p.S309*|ANKRD16_uc001iiq.2_Intron NM_019046 NP_061919 Q6P6B7 ANR16_HUMAN ankyrin repeat domain 16 isoform a 309 ANK 9. 0 AACGGTACCTGATCGATTTTT 0.284 NA 3 35 0 0 0.001168 0 0 TAF3 83860 broad.mit.edu 37 10 8007006 8007006 + Silent SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr10:8007006G>A uc010qbd.1 + 3 1533 c.1533G>A c.(1531-1533)GAG>GAA p.E511E NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 511 Lys-rich. maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 TGTATGAGGAGAAAACCAAGC 0.378 NA 20 200 0 0 0.01892 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819359 50819359 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr10:50819359C>T uc001jhw.2 + 1 1013 c.573C>T c.(571-573)TTC>TTT p.F191F CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 191 Helical; (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 GCTCAGCCTTCGCCGACACGT 0.657 NA 8 17 0 0 0.006214 0 0 DUPD1 338599 broad.mit.edu 37 10 76818123 76818123 + Silent SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr10:76818123G>C uc001jwq.1 - 1 150 c.150C>G c.(148-150)CCC>CCG p.P50P NM_001003892 NP_001003892 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase 50 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2) 2 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) GGGTGTACTGGGGACTGCCCT 0.637 NA 7 71 0 0 0.004482 0 0 ZNF503 84858 broad.mit.edu 37 10 77160865 77160865 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr10:77160865C>T uc001jxg.2 - 1 649 c.313G>A c.(313-315)GAG>AAG p.E105K C10orf41_uc010qlf.1_5'Flank|C10orf41_uc010qlg.1_5'Flank NM_032772 NP_116161 Q96F45 ZN503_HUMAN zinc finger protein 503 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) GTCCTTACCTCGATGGGGCTG 0.627 NA 3 16 0 0 0.004672 0 0 PPIF 10105 broad.mit.edu 37 10 81112122 81112122 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr10:81112122C>T uc001kai.2 + 5 547 c.462C>T c.(460-462)TTC>TTT p.F154F PPIF_uc001kaj.2_Intron NM_005729 NP_005720 P30405 PPIF_HUMAN peptidylprolyl isomerase F precursor 154 PPIase cyclophilin-type. protein folding membrane fraction|mitochondrial matrix peptidyl-prolyl cis-trans isomerase activity skin(1) 1 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Dimethyl sulfoxide(DB01093)|L-Proline(DB00172) GCTCCCAGTTCTTCATCTGCA 0.592 NA 7 99 0 0 0.006214 0 0 IFIT1B 439996 broad.mit.edu 37 10 91144396 91144396 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr10:91144396C>T uc001kgh.2 + 2 1406 c.1326C>T c.(1324-1326)CTC>CTT p.L442L LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron NM_001010987 NP_001010987 Q5T764 IFT1B_HUMAN interferon-induced protein with 442 TPR 8. binding 0 GTGTCAGCCTCCTTGGGCTTA 0.428 NA 102 408 0 0 0.01441 0 0 MMS19 64210 broad.mit.edu 37 10 99238086 99238086 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr10:99238086G>C uc001kns.3 - 4 548 c.323C>G c.(322-324)TCT>TGT p.S108C MMS19_uc009xvt.2_Translation_Start_Site|MMS19_uc001knr.2_Translation_Start_Site|MMS19_uc010qox.1_Missense_Mutation_p.S129C|MMS19_uc001knt.2_Missense_Mutation_p.S108C|MMS19_uc001knu.1_5'Flank NM_022362 NP_071757 Q96T76 MMS19_HUMAN MMS19 nucleotide excision repair homolog 108 chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay) cytoplasm|holo TFIIH complex|MMXD complex estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity 0 Colorectal(252;0.0846) Epithelial(162;3.33e-10)|all cancers(201;2.74e-08) CTGCAGGACAGATGGGATCAC 0.463 NA Direct_reversal_of_damage|NER 9 41 0 0 0.006214 0 0 CHUK 1147 broad.mit.edu 37 10 101978567 101978567 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr10:101978567C>T uc001kqp.2 - 8 760 c.705G>A c.(703-705)AAG>AAA p.K235K NM_001278 NP_001269 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 235 Protein kinase. I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1) 7 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) GATCCTTCTTCTTAATCTTCT 0.323 Ovarian(159;52 1904 10536 35305 37148) NA 6 165 0 0 0.001168 0 0 NRAP 4892 broad.mit.edu 37 10 115364439 115364439 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr10:115364439G>C uc001laj.2 - 35 4320 c.4156C>G c.(4156-4158)CAC>GAC p.H1386D NRAP_uc009xyb.2_Missense_Mutation_p.H175D|NRAP_uc001lak.2_Missense_Mutation_p.H1351D|NRAP_uc001lal.3_Missense_Mutation_p.H1386D NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 1386 Nebulin 36. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GTGAACTTGTGATACTGTGTC 0.587 NA 10 113 0 0 0.013537 0 0 INPP5F 22876 broad.mit.edu 37 10 121510631 121510631 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr10:121510631G>C uc001leo.2 + 2 307 c.141G>C c.(139-141)TTG>TTC p.L47F INPP5F_uc001len.3_Missense_Mutation_p.L47F NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 47 phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) GTTTGGGGTTGGTAGAAGGTG 0.328 NA OREG0020583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 100 0 0 0.001984 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122334782 122334782 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr10:122334782C>T uc001lev.1 + 6 937 c.585C>T c.(583-585)TCC>TCT p.S195S PPAPDC1A_uc010qtd.1_Silent_p.S195S|PPAPDC1A_uc009xzl.1_Silent_p.S132S|PPAPDC1A_uc001lew.1_3'UTR|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Silent_p.S74S NM_001030059 NP_001025230 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain 195 Phosphatase sequence motif III.|Helical; (Potential). phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1) 1 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) TTGCCCTGTCCCGCATGTGCG 0.617 NA 24 261 0 0 0.00632 0 0 OR51A2 401667 broad.mit.edu 37 11 4976704 4976705 + Missense_Mutation DNP CA CA AT TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr11:4976704_4976705CA>AT uc010qyt.1 - 1 239_240 c.239_240TG>AT c.(238-240)CTG>CAT p.L80H NM_001004748 NP_001004748 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, 80 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ACACAGTGGGCAGAGATGATAA 0.436 NA 120 140 0 0 0.004672 0 0 OVCH2 341277 broad.mit.edu 37 11 7718296 7718296 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr11:7718296G>T uc010rbf.1 - 9 976 c.976C>A c.(976-978)CAC>AAC p.H326N NM_198185 NP_937828 ovochymase 2 precursor 0 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) TCTGGGAAGTGCAGCTTCCCC 0.552 NA 13 35 6.94344e-10 7.69544e-10 0.006122 1 0 AMPD3 272 broad.mit.edu 37 11 10527398 10527398 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr11:10527398G>C uc001mio.1 + 15 2606 c.2271G>C c.(2269-2271)ATG>ATC p.M757I AMPD3_uc010rbz.1_Missense_Mutation_p.M598I|AMPD3_uc001min.1_Missense_Mutation_p.M766I|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.M764I|AMPD3_uc009yfy.2_Missense_Mutation_p.M757I NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 757 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding large_intestine(1)|ovary(1) 2 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) CTGATGCTATGAAATCAGAAG 0.428 NA 5 241 0 0 0.001168 0 0 CTR9 9646 broad.mit.edu 37 11 10800443 10800443 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr11:10800443G>A uc001mja.2 + 25 3462 c.3313G>A c.(3313-3315)GAA>AAA p.E1105K NM_014633 NP_055448 Q6PD62 CTR9_HUMAN SH2 domain binding protein 1 1105 Ser-rich. histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck ovary(2) 2 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GTCTGACAATGAATCTGTGCA 0.557 NA 38 85 0 0 0.006999 0 0 SLC17A6 57084 broad.mit.edu 37 11 22387212 22387212 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr11:22387212G>A uc001mqk.2 + 7 1281 c.868G>A c.(868-870)GCA>ACA p.A290T NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 290 Cytoplasmic (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 TGGAGAGAGTGCAAATCTTTT 0.378 NA 30 192 0 0 0.021022 0 0 IMMP1L 196294 broad.mit.edu 37 11 31477921 31477921 + Silent SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr11:31477921C>A uc001msy.1 - 5 403 c.207G>T c.(205-207)GTG>GTT p.V69V IMMP1L_uc001msz.1_Silent_p.V69V|IMMP1L_uc009yjo.2_Silent_p.V69V|IMMP1L_uc009yjp.2_RNA NM_144981 NP_659418 Q96LU5 IMP1L_HUMAN IMP1 inner mitochondrial membrane 69 proteolysis mitochondrial inner membrane serine-type peptidase activity 0 Lung SC(675;0.225) TTTTTGCAATCACAATGTCAC 0.343 NA 21 82 6.32553e-13 7.24604e-13 0.004656 1 0 C11orf41 25758 broad.mit.edu 37 11 33565250 33565250 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr11:33565250C>G uc001mup.3 + 1 1374 c.1250C>G c.(1249-1251)TCT>TGT p.S417C C11orf41_uc001mun.1_Missense_Mutation_p.S417C NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 417 integral to membrane ovary(2) 2 TCAATAATATCTGGCTTGCAG 0.398 NA OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 69 0 0 0.019004 0 0 RAG1 5896 broad.mit.edu 37 11 36596881 36596881 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr11:36596881G>C uc001mwu.3 + 2 2151 c.2027G>C c.(2026-2028)AGT>ACT p.S676T RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 676 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) GCCATCCTGAGTCCTCTCATT 0.512 Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363) NA Familial_Hemophagocytic_Lymphohistiocytosis 55 105 0 0 0.01441 0 0 OR4A5 81318 broad.mit.edu 37 11 51411989 51411989 + Missense_Mutation SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr11:51411989C>A uc001nhi.1 - 1 407 c.407G>T c.(406-408)CGA>CTA p.R136L NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 136 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) GCAAACCTGTCGATTCATGAT 0.478 NA 39 300 1.06522e-23 1.29771e-23 0.013114 1 0 OR5D18 219438 broad.mit.edu 37 11 55587679 55587679 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr11:55587679G>T uc010rin.1 + 1 574 c.574G>T c.(574-576)GAT>TAT p.D192Y NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 192 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) TTCTTGCTCTGATACTTACAT 0.403 NA 59 616 1.55545e-33 1.94907e-33 0.01441 1 0 RAB3IL1 5866 broad.mit.edu 37 11 61674928 61674928 + Missense_Mutation SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr11:61674928C>A uc001nso.2 - 4 533 c.375G>T c.(373-375)ATG>ATT p.M125I RAB3IL1_uc001nsp.2_Missense_Mutation_p.M172I NM_013401 NP_037533 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 125 Potential. protein binding skin(2)|central_nervous_system(1) 3 CTTCTCGAACCATCTTGTGAG 0.627 NA 6 33 0.000274275 0.00028738 0.004482 1 0 SPTBN2 6712 broad.mit.edu 37 11 66472402 66472402 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr11:66472402G>A uc001ojd.2 - 14 2417 c.2345C>T c.(2344-2346)ACG>ATG p.T782M NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 782 Spectrin 5. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 TAGAGCCTGCGTGGAGAACTC 0.662 NA 14 40 0 0 0.006122 0 0 CPT1A 1374 broad.mit.edu 37 11 68549256 68549256 + Silent SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr11:68549256G>A uc001oog.3 - 11 1505 c.1335C>T c.(1333-1335)CAC>CAT p.H445H CPT1A_uc001oof.3_Silent_p.H445H|CPT1A_uc009ysj.2_Intron NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 445 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) AACATCGGCCGTGTAGTAGAG 0.488 NA 15 776 0 0 0.003163 0 0 FOLR4 390243 broad.mit.edu 37 11 94040706 94040706 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr11:94040706C>T uc010rud.1 + 4 580 c.580C>T c.(580-582)CGG>TGG p.R194W NM_001080486 NP_001073955 A6ND01 FOLR4_HUMAN folate receptor 4 (delta) homolog 201 extracellular region folic acid binding|receptor activity ovary(1) 1 CCCTGAGCGACGGAACAGTGG 0.612 NA 74 654 0 0 0.01441 0 0 AASDHPPT 60496 broad.mit.edu 37 11 105948530 105948530 + Silent SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr11:105948530C>G uc001pjc.1 + 1 239 c.93C>G c.(91-93)GCC>GCG p.A31A KBTBD3_uc001pja.2_5'Flank|KBTBD3_uc001pjb.2_5'Flank|KBTBD3_uc009yxm.2_5'Flank|AASDHPPT_uc010rvn.1_RNA NM_015423 NP_056238 Q9NRN7 ADPPT_HUMAN aminoadipate-semialdehyde 31 macromolecule biosynthetic process|pantothenate metabolic process cytosol holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding 0 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041) CGAGCCGAGCCGAATGGCTGC 0.607 NA 10 63 0 0 0.008871 0 0 SIK2 23235 broad.mit.edu 37 11 111583037 111583037 + Missense_Mutation SNP C C G rs139007229 byFrequency TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr11:111583037C>G uc001plt.2 + 9 1322 c.1204C>G c.(1204-1206)CCA>GCA p.P402A NM_015191 NP_056006 Q9H0K1 SIK2_HUMAN SNF1-like kinase 2 402 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|skin(1) 3 CTTTTCATTTCCAGCATCTGG 0.547 NA 5 102 0 0 0.014758 0 0 ARCN1 372 broad.mit.edu 37 11 118468445 118468445 + Missense_Mutation SNP T T C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr11:118468445T>C uc001ptq.2 + 9 1426 c.1265T>C c.(1264-1266)ATC>ACC p.I422T ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Missense_Mutation_p.I334T|ARCN1_uc009zag.2_Missense_Mutation_p.I463T NM_001655 NP_001646 P48444 COPD_HUMAN archain isoform 1 422 MHD. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol 0 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) GCGCCTGTTATCGGTGAGATC 0.512 NA 10 55 0 0 0.008291 0 0 NCAPD3 23310 broad.mit.edu 37 11 134048744 134048744 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr11:134048744G>T uc001qhd.1 - 21 3253 c.2647C>A c.(2647-2649)CTG>ATG p.L883M NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 883 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GACGAAGCCAGGACGGACTGA 0.478 NA 4 105 3.59834e-05 3.78318e-05 0.001168 1 0 PHB2 11331 broad.mit.edu 37 12 7077178 7077178 + Silent SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:7077178G>A uc001qsd.2 - 5 694 c.484C>T c.(484-486)CTG>TTG p.L162L PHB2_uc010sft.1_Silent_p.L162L|PHB2_uc010sfu.1_Silent_p.L162L|PHB2_uc001qse.1_5'Flank|PHB2_uc001qsf.1_5'Flank|PHB2_uc009zfn.1_5'Flank|SCARNA12_uc001qsg.2_5'Flank NM_001144831 NP_001138303 Q99623 PHB2_HUMAN prohibitin 2 isoform 1 162 Necessary for transcriptional repression. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial inner membrane|nucleus estrogen receptor binding|receptor activity ovary(2)|pancreas(1) 3 CGGATCAACAGGGATACCTga 0.378 NA 10 23 0 0 0.008291 0 0 KLRC2 3822 broad.mit.edu 37 12 10583765 10583765 + Nonsense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:10583765G>C uc001qyk.2 - 6 654 c.647C>G c.(646-648)TCA>TGA p.S216* KLRC3_uc001qyh.2_Intron|KLRC2_uc010she.1_Nonsense_Mutation_p.S216* NM_002260 NP_002251 P26717 NKG2C_HUMAN killer cell lectin-like receptor subfamily C, 216 Extracellular (Potential).|C-type lectin. cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity 0 ACACTGGGCTGATTTAAGTCG 0.323 NA 4 112 0 0 0.00308 0 0 KLRC1 3821 broad.mit.edu 37 12 10599199 10599199 + Nonsense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:10599199G>C uc001qyl.2 - 7 817 c.653C>G c.(652-654)TCA>TGA p.S218* KLRC1_uc009zhm.1_Nonsense_Mutation_p.S218*|KLRC1_uc001qym.2_Nonsense_Mutation_p.S200*|KLRC1_uc001qyn.2_Nonsense_Mutation_p.S218*|KLRC1_uc001qyo.2_Nonsense_Mutation_p.S200* NM_002259 NP_002250 P26715 NKG2A_HUMAN killer cell lectin-like receptor subfamily C, 218 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway|regulation of immune response integral to plasma membrane sugar binding|transmembrane receptor activity 0 ACACTGGGCTGATTTAAGTCG 0.323 NA 62 238 0 0 0.01441 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21242939 21242939 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:21242939G>T uc010sil.1 + 16 2211 c.2146G>T c.(2146-2148)GAT>TAT p.D716Y LST-3TM12_uc010sim.1_Missense_Mutation_p.D655Y|LST-3TM12_uc010sin.1_Missense_Mutation_p.D608Y Q9NPD5 SO1B3_HUMAN SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c; 655 Cytoplasmic (Potential). 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) CCATGGAAAGGATACCAAAGT 0.343 NA 26 75 2.48779e-11 2.80792e-11 0.005443 1 0 ST8SIA1 6489 broad.mit.edu 37 12 22354963 22354963 + Silent SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:22354963G>A uc001rfo.3 - 5 1076 c.594C>T c.(592-594)AAC>AAT p.N198N ST8SIA1_uc009zix.2_Silent_p.N55N NM_003034 NP_003025 Q92185 SIA8A_HUMAN alpha-2,8-sialyltransferase 1 198 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(3) 3 ACCACAGAAGGTTCTGAAACC 0.388 NA 16 74 0 0 0.006122 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43945637 43945637 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:43945637G>T uc010skx.1 - 1 88 c.88C>A c.(88-90)CAA>AAA p.Q30K NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 30 proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ACTTTACCTTGCCTGGGGTGG 0.647 NA 24 97 4.72057e-08 5.08497e-08 0.021523 1 0 CALCOCO1 57658 broad.mit.edu 37 12 54119004 54119004 + Missense_Mutation SNP C C A rs149998353 byFrequency TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:54119004C>A uc001sef.2 - 2 167 c.23G>T c.(22-24)CGG>CTG p.R8L CALCOCO1_uc010som.1_Missense_Mutation_p.R8L|CALCOCO1_uc010son.1_5'UTR|CALCOCO1_uc001seh.2_Missense_Mutation_p.R8L|CALCOCO1_uc009znd.2_Missense_Mutation_p.R8L|CALCOCO1_uc001seg.2_5'UTR|CALCOCO1_uc010soo.1_Missense_Mutation_p.R8L NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform 8 p300 KIX-binding (By similarity).|N-terminal AD (CTNNB1 binding site) (By similarity). steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 GGATGGTGCCCGGCTTAGTGG 0.532 NA 20 45 4.35082e-09 4.75338e-09 0.010504 1 0 SUOX 6821 broad.mit.edu 37 12 56397873 56397873 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:56397873G>A uc001six.2 + 6 1026 c.700G>A c.(700-702)GTA>ATA p.V234I SUOX_uc001siy.2_Missense_Mutation_p.V234I|SUOX_uc001siz.2_Missense_Mutation_p.V234I|SUOX_uc001sja.2_Missense_Mutation_p.V234I NM_000456 NP_000447 P51687 SUOX_HUMAN sulfite oxidase precursor 234 Molybdenum-pterin domain (By similarity). mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) TCGCTTACACGTAGTAGGAGC 0.522 NA 15 60 0 0 0.006122 0 0 KCNC2 3747 broad.mit.edu 37 12 75442065 75442065 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:75442065G>T uc001sxg.1 - 4 2192 c.1648C>A c.(1648-1650)CCG>ACG p.P550T KCNC2_uc009zry.2_Missense_Mutation_p.P550T|KCNC2_uc001sxe.2_Missense_Mutation_p.P550T|KCNC2_uc001sxf.2_Intron|KCNC2_uc010stw.1_Intron NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 550 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity p.P550L(1) breast(2)|pancreas(2)|skin(1)|lung(1) 6 GATAGTGGCGGCTCACTTCCT 0.478 NA 31 160 1.08312e-15 1.26433e-15 0.009535 1 0 NAV3 89795 broad.mit.edu 37 12 78452814 78452814 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:78452814G>T uc001syp.2 + 12 2728 c.2555G>T c.(2554-2556)AGT>ATT p.S852I NAV3_uc001syo.2_Missense_Mutation_p.S852I|NAV3_uc010sub.1_Missense_Mutation_p.S352I NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 852 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TATACTAGAAGTCTGAACCGA 0.398 NA HNSCC(70;0.22) 25 201 4.59853e-10 5.15237e-10 0.005443 1 0 MGAT4C 25834 broad.mit.edu 37 12 86373302 86373302 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:86373302C>G uc001tai.3 - 8 2452 c.1202G>C c.(1201-1203)CGG>CCG p.R401P MGAT4C_uc001tal.3_Missense_Mutation_p.R401P|MGAT4C_uc001taj.3_Missense_Mutation_p.R401P|MGAT4C_uc001tak.3_Missense_Mutation_p.R401P|MGAT4C_uc010sum.1_Missense_Mutation_p.R425P|MGAT4C_uc001tah.3_Missense_Mutation_p.R401P NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 401 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 ATCATTTTGCCGATCTTCTGT 0.343 NA 18 64 0 0 0.014323 0 0 POLR3B 55703 broad.mit.edu 37 12 106890582 106890582 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:106890582G>T uc001tlp.2 + 25 3092 c.2870G>T c.(2869-2871)AGA>ATA p.R957I POLR3B_uc001tlq.2_Missense_Mutation_p.R899I NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 957 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 CTGGACGGCAGATTCCACTAC 0.527 NA 47 284 6.31075e-24 7.71873e-24 0.01441 1 0 CORO1C 23603 broad.mit.edu 37 12 109051145 109051145 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:109051145C>T uc001tnj.2 - 6 781 c.685G>A c.(685-687)GAT>AAT p.D229N CORO1C_uc009zva.2_Missense_Mutation_p.D282N|CORO1C_uc010sxf.1_Missense_Mutation_p.D192N NM_014325 NP_055140 Q9ULV4 COR1C_HUMAN coronin, actin binding protein, 1C isoform 1 229 actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding skin(3) 3 ACATTGCCATCGGCCAGGAAG 0.547 NA 5 31 0 0 0.014758 0 0 ATXN2 6311 broad.mit.edu 37 12 111893881 111893881 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:111893881G>T uc001tsj.2 - 23 3858 c.3696C>A c.(3694-3696)CAC>CAA p.H1232Q ATXN2_uc001tsh.2_Missense_Mutation_p.H967Q|ATXN2_uc001tsi.2_Missense_Mutation_p.H925Q|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.H420Q|ATXN2_uc001tsl.1_Missense_Mutation_p.H233Q NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 1232 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 CCGGCTGAACGTGAGAAGGAT 0.532 NA 87 315 1.03567e-68 1.32479e-68 0.01441 1 0 C12orf51 283450 broad.mit.edu 37 12 112600871 112600871 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:112600871C>T uc009zwc.2 - 68 11847 c.11829G>A c.(11827-11829)AAG>AAA p.K3943K NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GGGGGGCGATCTTCATGGGGT 0.617 NA 23 141 0 0 0.00632 0 0 C12orf51 283450 broad.mit.edu 37 12 112600874 112600874 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:112600874C>T uc009zwc.2 - 68 11844 c.11826G>A c.(11824-11826)ATG>ATA p.M3942I NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GGGCGATCTTCATGGGGTACG 0.612 NA 22 143 0 0 0.007291 0 0 PXN 5829 broad.mit.edu 37 12 120650309 120650309 + Silent SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:120650309G>A uc001txt.2 - 12 1715 c.1584C>T c.(1582-1584)CAC>CAT p.H528H uc001txs.1_RNA|PXN_uc001txu.2_Silent_p.H340H|PXN_uc001txv.2_Silent_p.H409H|PXN_uc001txx.2_Silent_p.H361H|PXN_uc001txy.2_Silent_p.H494H|PXN_uc001txz.2_RNA NM_001080855 NP_001074324 P49023 PAXI_HUMAN paxillin isoform 1 528 LIM zinc-binding 3. cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding ovary(1)|breast(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGCGCCGCTCGTGGTAGTGCA 0.642 NA 5 28 0 0 0.001168 0 0 POLE 5426 broad.mit.edu 37 12 133257827 133257827 + Missense_Mutation SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:133257827C>A uc001uks.1 - 2 145 c.101G>T c.(100-102)CGC>CTC p.R34L POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R34L NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 34 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CCGTTCCAGGCGCTTGAGTGC 0.507 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 24 94 2.70662e-09 2.96762e-09 0.009535 1 0 ANKLE2 23141 broad.mit.edu 37 12 133318046 133318046 + Missense_Mutation SNP T T C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:133318046T>C uc001ukx.2 - 7 1446 c.1379A>G c.(1378-1380)AAA>AGA p.K460R ANKLE2_uc001uky.3_Missense_Mutation_p.K398R NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 460 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) TTCCACAGATTTATTTTTGCT 0.413 NA 28 66 0 0 0.009535 0 0 RXFP2 122042 broad.mit.edu 37 13 32349457 32349457 + Missense_Mutation SNP A A G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr13:32349457A>G uc001utt.2 + 7 643 c.572A>G c.(571-573)TAT>TGT p.Y191C RXFP2_uc010aba.2_Missense_Mutation_p.Y174C NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 191 LRR 3.|Extracellular (Potential). integral to membrane|plasma membrane 0 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) ATTTGTAGATATCTCAACCAC 0.368 NA 43 241 0 0 0.01441 0 0 CUL4A 8451 broad.mit.edu 37 13 113883759 113883759 + Splice_Site SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr13:113883759G>C uc010tjy.1 + 6 450 c.439_splice c.e6-1 p.I147_splice CUL4A_uc010tjx.1_Splice_Site_p.I47_splice|CUL4A_uc010agu.2_Splice_Site|CUL4A_uc001vth.2_Splice_Site|CUL4A_uc001vtj.2_Splice_Site NM_001008895 NP_001008895 Q13619 CUL4A_HUMAN cullin 4A isoform 1 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding central_nervous_system(2)|skin(1) 3 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) CTGCTGGTCAGATCATGATCA 0.473 NA 13 82 0 0 0.020292 0 0 CUL4A 8451 broad.mit.edu 37 13 113897452 113897452 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr13:113897452C>T uc010tjy.1 + 12 1217 c.1206C>T c.(1204-1206)CCC>CCT p.P402P CUL4A_uc010tjx.1_Silent_p.P302P|CUL4A_uc010agu.2_Silent_p.P263P|CUL4A_uc010tjz.1_Silent_p.P81P NM_001008895 NP_001008895 Q13619 CUL4A_HUMAN cullin 4A isoform 1 402 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding central_nervous_system(2)|skin(1) 3 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) ACAAGAGACCCAACAAGCCTG 0.418 NA 17 185 0 0 0.008871 0 0 POTEG 404785 broad.mit.edu 37 14 19563533 19563533 + Missense_Mutation SNP T T G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr14:19563533T>G uc001vuz.1 + 5 1099 c.1047T>G c.(1045-1047)CAT>CAG p.H349Q POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 349 H -> R (in Ref. 1; AAS58868/AAS58871). ovary(1) 1 TTTCTAGTCATCATAATGTGT 0.348 NA 26 798 0 0 0.013726 0 0 MMP14 4323 broad.mit.edu 37 14 23311752 23311752 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr14:23311752G>C uc001whc.2 + 4 748 c.514G>C c.(514-516)GAG>CAG p.E172Q NM_004995 NP_004986 P50281 MMP14_HUMAN matrix metalloproteinase 14 preproprotein 172 Extracellular (Potential). extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) TGAGGGCCATGAGAAGCAGGC 0.622 NA 10 33 0 0 0.008291 0 0 LRFN5 145581 broad.mit.edu 37 14 42360651 42360651 + Silent SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr14:42360651C>G uc001wvm.2 + 4 2782 c.1584C>G c.(1582-1584)ACC>ACG p.T528T LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 528 Extracellular (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TGGGAGGCACCATGATTATTA 0.428 NA HNSCC(30;0.082) 68 562 0 0 0.01441 0 0 MAP4K5 11183 broad.mit.edu 37 14 50935437 50935437 + Missense_Mutation SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr14:50935437C>A uc001wya.2 - 10 926 c.606G>T c.(604-606)TGG>TGT p.W202C MAP4K5_uc001wyb.2_Missense_Mutation_p.W202C|MAP4K5_uc010anv.1_Missense_Mutation_p.W202C NM_006575 NP_006566 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase 202 Protein kinase. activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(1) 1 all_epithelial(31;0.000415)|Breast(41;0.0102) TTCCTACTGCCCAGATATCAC 0.393 NA 15 63 8.60227e-14 9.891e-14 0.004007 1 0 TRMT5 57570 broad.mit.edu 37 14 61446167 61446167 + Missense_Mutation SNP G G C rs146315661 TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr14:61446167G>C uc001xff.3 - 2 540 c.449C>G c.(448-450)TCC>TGC p.S150C SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank NM_020810 NP_065861 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 150 cytoplasm tRNA (guanine-N1-)-methyltransferase activity central_nervous_system(2)|large_intestine(1) 3 OV - Ovarian serous cystadenocarcinoma(108;0.0873) TTTCTCAAAGGAATCATGAGT 0.373 NA 27 104 0 0 0.008361 0 0 PPP2R5E 5529 broad.mit.edu 37 14 63888788 63888788 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr14:63888788G>C uc001xgd.1 - 4 969 c.379C>G c.(379-381)CTC>GTC p.L127V PPP2R5E_uc010tsf.1_Missense_Mutation_p.L51V|PPP2R5E_uc010tsg.1_Missense_Mutation_p.L51V|PPP2R5E_uc001xge.2_Missense_Mutation_p.L127V|PPP2R5E_uc010tsh.1_Missense_Mutation_p.L127V|PPP2R5E_uc001xgf.1_RNA NM_006246 NP_006237 Q16537 2A5E_HUMAN epsilon isoform of regulatory subunit B56, 127 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) CTAGGAGGGAGAGTTCTGAAT 0.423 NA 21 181 0 0 0.014323 0 0 AKAP5 9495 broad.mit.edu 37 14 64935712 64935712 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr14:64935712C>T uc001xhd.3 + 2 978 c.600C>T c.(598-600)AGC>AGT p.S200S ZBTB25_uc001xhc.2_Intron NM_004857 NP_004848 P24588 AKAP5_HUMAN A-kinase anchor protein 5 200 energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission cytosol adenylate cyclase binding|calmodulin binding 0 all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449) CAAATGTGAGCAATAGCACAA 0.418 NA 17 76 0 0 0.010504 0 0 HSPA2 3306 broad.mit.edu 37 14 65008589 65008589 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr14:65008589G>T uc001xhj.2 + 2 1098 c.1022G>T c.(1021-1023)GGC>GTC p.G341V HSPA2_uc001xhk.3_Missense_Mutation_p.G341V NM_021979 NP_068814 P54652 HSP72_HUMAN heat shock 70kDa protein 2 341 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding skin(1) 1 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) GTGCTGGTGGGCGGCTCCACT 0.617 Pancreas(136;1211 1835 24894 31984 38227) NA 7 33 0.00307968 0.00317269 0.00308 1 0 FUT8 2530 broad.mit.edu 37 14 66208847 66208847 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr14:66208847C>T uc001xin.2 + 11 2644 c.1447C>T c.(1447-1449)CAT>TAT p.H483Y FUT8_uc001xio.2_Missense_Mutation_p.H483Y|FUT8_uc010tsp.1_Missense_Mutation_p.H320Y|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.H483Y|FUT8_uc001xiq.2_Missense_Mutation_p.H354Y|FUT8_uc001xis.2_Missense_Mutation_p.H77Y NM_178155 NP_835368 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 isoform a 483 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) GCAAACACTACATCCTGATGC 0.388 NA 32 219 0 0 0.00623 0 0 LIN52 91750 broad.mit.edu 37 14 74551687 74551687 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr14:74551687C>G uc001xpp.2 + 1 32 c.22C>G c.(22-24)CCC>GCC p.P8A LIN52_uc010asb.2_RNA|ALDH6A1_uc001xpo.2_5'Flank|ALDH6A1_uc010asa.2_5'Flank|ALDH6A1_uc010tuq.1_5'Flank NM_001024674 NP_001019845 Q52LA3 LIN52_HUMAN lin-52 homolog 8 breast(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00471) GATGGCGTCTCCCACAGACGG 0.552 NA 22 227 0 0 0.012213 0 0 KIAA0317 9870 broad.mit.edu 37 14 75142464 75142464 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr14:75142464C>T uc001xqb.2 - 8 1523 c.1018G>A c.(1018-1020)GAG>AAG p.E340K KIAA0317_uc010tut.1_Missense_Mutation_p.E179K|KIAA0317_uc001xqc.2_Missense_Mutation_p.E340K NM_001039479 NP_001034568 O15033 K0317_HUMAN hypothetical protein LOC9870 340 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|intracellular ubiquitin-protein ligase activity ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00404) GTGTGGCACTCAGAGGGCGAG 0.547 NA 27 501 0 0 0.010818 0 0 C14orf178 283579 broad.mit.edu 37 14 78235900 78235900 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr14:78235900C>G uc001xug.1 + 4 706 c.248C>G c.(247-249)TCT>TGT p.S83C C14orf178_uc001xuh.1_RNA NM_174943 NP_777603 Q8N769 CN178_HUMAN hypothetical protein LOC283579 83 ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0273) GTGAAAGATTCTACCTTTCTA 0.07 NA 5 17 0 0 0.014758 0 0 PPP4R4 57718 broad.mit.edu 37 14 94733329 94733329 + Silent SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr14:94733329C>G uc001ycs.1 + 23 2566 c.2412C>G c.(2410-2412)GTC>GTG p.V804V NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN HEAT-like repeat-containing protein isoform 1 804 cytoplasm|protein serine/threonine phosphatase complex protein binding skin(3)|upper_aerodigestive_tract(1) 4 CAACTTCTGTCTCAGGGTTAG 0.303 NA 8 78 0 0 0.010729 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419327 105419327 + Silent SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr14:105419327G>A uc010axc.1 - 7 2581 c.2461C>T c.(2461-2463)CTG>TTG p.L821L AHNAK2_uc001ypx.2_Silent_p.L721L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 821 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTGTCGGCCAGGGACAGGTCC 0.602 NA 26 135 0 0 0.00632 0 0 CASC5 57082 broad.mit.edu 37 15 40902476 40902476 + Silent SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr15:40902476G>C uc010bbs.1 + 6 392 c.231G>C c.(229-231)GTG>GTC p.V77V CASC5_uc010ucq.1_5'UTR|CASC5_uc001zme.2_Silent_p.V77V|CASC5_uc010bbt.1_Silent_p.V77V NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 77 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) TGAAAATAGTGAGAAAGTCAG 0.294 NA 12 48 0 0 0.004007 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42108784 42108784 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr15:42108784G>C uc001zok.3 + 14 1825 c.1539G>C c.(1537-1539)GAG>GAC p.E513D MAPKBP1_uc001zoj.3_Missense_Mutation_p.E507D|MAPKBP1_uc010bcj.2_Missense_Mutation_p.E14D|MAPKBP1_uc010bci.2_Missense_Mutation_p.E507D|MAPKBP1_uc010udb.1_Missense_Mutation_p.E346D|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.E14D NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 513 WD 7. 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) CCCTGAGTGAGATGCTGAAGG 0.582 NA 5 32 0 0 0.014758 0 0 CAPN3 825 broad.mit.edu 37 15 42678468 42678468 + Silent SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr15:42678468G>A uc001zpn.1 + 3 789 c.483G>A c.(481-483)GGG>GGA p.G161G CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Silent_p.G74G|CAPN3_uc010udf.1_Silent_p.G74G|CAPN3_uc010udg.1_Silent_p.G74G|CAPN3_uc001zpo.1_Silent_p.G161G|CAPN3_uc001zpp.1_Silent_p.G161G NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 161 Calpain catalytic. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) ACTACGCAGGGATCTTCCACT 0.547 NA OREG0023085 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 150 0 0 0.013114 0 0 DMXL2 23312 broad.mit.edu 37 15 51792347 51792347 + Missense_Mutation SNP C C T rs138911498 TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr15:51792347C>T uc002abf.2 - 18 3299 c.3074G>A c.(3073-3075)CGC>CAC p.R1025H DMXL2_uc010ufy.1_Missense_Mutation_p.R1025H|DMXL2_uc010bfa.2_Intron NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1025 WD 8. cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) TTTCCAGAAGCGTACTTTATT 0.363 NA 22 178 0 0 0.016522 0 0 SMAD3 4088 broad.mit.edu 37 15 67473637 67473637 + Silent SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr15:67473637G>A uc002aqj.2 + 6 1015 c.717G>A c.(715-717)GAG>GAA p.E239E SMAD3_uc010ujr.1_Silent_p.E134E|SMAD3_uc010ujs.1_Silent_p.E195E|SMAD3_uc010ujt.1_Silent_p.E44E NM_005902 NP_005893 P84022 SMAD3_HUMAN mothers against decapentaplegic homolog 3 239 MH2. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) CCTACTACGAGCTGAACCAGC 0.612 NA 13 85 0 0 0.004007 0 0 GLCE 26035 broad.mit.edu 37 15 69548421 69548421 + Missense_Mutation SNP T T A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr15:69548421T>A uc002ary.1 + 3 504 c.276T>A c.(274-276)AAT>AAA p.N92K NM_015554 NP_056369 O94923 GLCE_HUMAN D-glucuronyl C5-epimerase 92 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity ovary(2) 2 GGGGCTTCAATAGCAATGTGG 0.453 NA 75 410 0 0 0.01441 0 0 PARN 5073 broad.mit.edu 37 16 14645891 14645891 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr16:14645891C>T uc010uzd.1 - 21 1609 c.1467G>A c.(1465-1467)GAG>GAA p.E489E PARN_uc010uzc.1_Silent_p.E428E|PARN_uc010uze.1_Silent_p.E443E|PARN_uc010uzf.1_Silent_p.E314E NM_002582 NP_002573 O95453 PARN_HUMAN poly(A)-specific ribonuclease (deadenylation 489 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding ovary(2) 2 TCTTTACTTGCTCGGGCTGGC 0.403 NA 88 429 0 0 0.01441 0 0 ABCC1 4363 broad.mit.edu 37 16 16225762 16225762 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr16:16225762C>T uc010bvi.2 + 27 4111 c.3936C>T c.(3934-3936)CAC>CAT p.H1312H ABCC1_uc010bvj.2_Silent_p.H1253H|ABCC1_uc010bvk.2_Silent_p.H1256H|ABCC1_uc010bvl.2_Silent_p.H1312H|ABCC1_uc010bvm.2_Silent_p.H1197H|ABCC1_uc002del.3_Silent_p.H1206H NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 1312 ABC transporter 2.|Cytoplasmic. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TTCTCAGGCACATCAATGTCA 0.612 NA 26 187 0 0 0.008361 0 0 IL21R 50615 broad.mit.edu 37 16 27457349 27457349 + Silent SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr16:27457349C>A uc002doq.1 + 8 1040 c.807C>A c.(805-807)GCC>GCA p.A269A IL21R_uc002dor.1_Silent_p.A269A|IL21R_uc002dos.1_Silent_p.A269A NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 269 Cytoplasmic (Potential).|Box 1 motif. natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 AGATATGGGCCGTCCCCAGCC 0.637 NA T BCL6 NHL 10 51 0.00136819 0.00142385 0.013537 1 0 CES4 51716 broad.mit.edu 37 16 55806409 55806409 + Missense_Mutation SNP T T C rs28366434 by1000genomes TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr16:55806409T>C uc002eik.2 + 5 711 c.260T>C c.(259-261)GTG>GCG p.V87A CES4_uc010cce.2_Missense_Mutation_p.V87A NR_003276 RecName: Full=Inactive carboxylesterase 4; AltName: Full=Placental carboxylesterase 3; Short=PCE-3; Flags: Precursor; 0 GGAGGGTCAGTGGGAGGAGAA 0.567 NA 3 37 0 0 0.004672 0 0 KIFC3 3801 broad.mit.edu 37 16 57805461 57805461 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr16:57805461G>C uc002emp.2 - 5 716 c.519C>G c.(517-519)CAC>CAG p.H173Q KIFC3_uc010vhw.1_Missense_Mutation_p.H71Q|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Missense_Mutation_p.H34Q|KIFC3_uc010vhx.1_Missense_Mutation_p.H34Q|KIFC3_uc010cdf.2_Missense_Mutation_p.H34Q|KIFC3_uc002emo.3_Missense_Mutation_p.H34Q|KIFC3_uc010vhy.1_Missense_Mutation_p.H115Q|KIFC3_uc002emq.2_Missense_Mutation_p.H173Q|KIFC3_uc010vhz.1_Missense_Mutation_p.H195Q|KIFC3_uc002emr.1_Intron|KIFC3_uc010cdg.1_RNA NM_005550 NP_005541 Q9BVG8 KIFC3_HUMAN kinesin family member C3 isoform 1 173 Potential. epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens ATP binding|microtubule motor activity central_nervous_system(2)|ovary(1) 3 all_neural(199;0.224) TCACCTGGCTGTGCTCACAAC 0.642 NA 7 50 0 0 0.001984 0 0 PELP1 27043 broad.mit.edu 37 17 4575522 4575522 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr17:4575522C>G uc002fyi.3 - 16 2990 c.2764G>C c.(2764-2766)GAA>CAA p.E922Q PELP1_uc010vsf.1_Missense_Mutation_p.E775Q NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN proline, glutamic acid and leucine rich protein 922 Glu-rich. transcription, DNA-dependent cytoplasm|MLL1 complex protein binding ovary(1)|central_nervous_system(1) 2 tcttcctcttcaaaatattcc 0 NA 3 4 0 0 0.009096 0 0 TP53 7157 broad.mit.edu 37 17 7578455 7578455 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr17:7578455C>G uc002gim.2 - 5 669 c.475G>C c.(475-477)GCC>CCC p.A159P TP53_uc002gig.1_Missense_Mutation_p.A159P|TP53_uc002gih.2_Missense_Mutation_p.A159P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27P|TP53_uc010cng.1_Missense_Mutation_p.A27P|TP53_uc002gii.1_Missense_Mutation_p.A27P|TP53_uc010cnh.1_Missense_Mutation_p.A159P|TP53_uc010cni.1_Missense_Mutation_p.A159P|TP53_uc002gij.2_Missense_Mutation_p.A159P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66P|TP53_uc002gio.2_Missense_Mutation_p.A27P|TP53_uc010vug.1_Missense_Mutation_p.A120P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 159 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R158fs*11(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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) ATGGCCATGGCGCGGACGCGG 0.627 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 36 162 0 0 0.006999 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8219171 8219171 + Missense_Mutation SNP A A T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr17:8219171A>T uc002glc.2 + 8 1641 c.1520A>T c.(1519-1521)TAT>TTT p.Y507F ARHGEF15_uc002gld.2_Missense_Mutation_p.Y507F|ARHGEF15_uc010vuw.1_Missense_Mutation_p.Y396F NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 507 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 TTCTCGGTGTATGTGGATTAT 0.597 NA 19 40 0 0 0.016522 0 0 MYH13 8735 broad.mit.edu 37 17 10212691 10212691 + Missense_Mutation SNP T T C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr17:10212691T>C uc002gmk.1 - 35 5119 c.5029A>G c.(5029-5031)ATC>GTC p.I1677V NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1677 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 CGCTCCACGATGGCCAGCTGC 0.642 NA 6 25 0 0 0.00308 0 0 MYH1 4619 broad.mit.edu 37 17 10409227 10409227 + Silent SNP A A T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr17:10409227A>T uc002gmo.2 - 19 2170 c.2076T>A c.(2074-2076)CTT>CTA p.L692L uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 692 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 GATGCAGGACAAGCTCATGCT 0.478 NA 18 136 0 0 0.008871 0 0 CCDC144NL 339184 broad.mit.edu 37 17 20799042 20799042 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr17:20799042G>T uc002gyf.2 - 1 412 c.292C>A c.(292-294)CAC>AAC p.H98N uc002gyg.1_Intron|uc002gyh.1_Intron NM_001004306 NP_001004306 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, 98 0 GCCAAGACGTGCTCCACCCCA 0.642 NA 29 191 1.05386e-31 1.31518e-31 0.01441 1 0 LIG3 3980 broad.mit.edu 37 17 33328387 33328387 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr17:33328387G>C uc002hik.1 + 17 2551 c.2443G>C c.(2443-2445)GAC>CAC p.D815H LIG3_uc002hij.2_Missense_Mutation_p.D815H NM_013975 NP_039269 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent isoform alpha 815 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1) 9 Ovarian(249;0.17) Bleomycin(DB00290) AGATGATAAGGACTGGAAATC 0.537 NA Other_BER_factors 3 90 0 0 0.014758 0 0 TADA2A 6871 broad.mit.edu 37 17 35830621 35830621 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr17:35830621G>A uc002hnt.2 + 13 1170 c.1013G>A c.(1012-1014)CGC>CAC p.R338H TADA2A_uc002hnv.2_Missense_Mutation_p.R338H|TADA2A_uc002hnw.2_Missense_Mutation_p.R237H|TADA2A_uc010cvb.2_Missense_Mutation_p.R134H NM_001488 NP_001479 O75478 TAD2A_HUMAN transcriptional adaptor 2A isoform a 338 histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(3)|skin(1) 4 CAGTGGCTCCGCCGGCAAGCT 0.517 NA 6 239 0 0 0.001984 0 0 RPL19 6143 broad.mit.edu 37 17 37358692 37358692 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr17:37358692G>T uc002hrq.1 + 3 297 c.235G>T c.(235-237)GGT>TGT p.G79C RPL19_uc002hrr.1_Missense_Mutation_p.G77C NM_000981 NP_000972 P84098 RL19_HUMAN ribosomal protein L19 79 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome 0 CATGGGCATAGGTAAGTGTGG 0.512 NA 17 78 7.87624e-14 9.09025e-14 0.016522 1 0 MED1 5469 broad.mit.edu 37 17 37564803 37564803 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr17:37564803G>A uc002hrv.3 - 17 3883 c.3671C>T c.(3670-3672)CCT>CTT p.P1224L MED1_uc010wee.1_Missense_Mutation_p.P1052L|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1224 Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TGAACTGATAGGGGACTTGGC 0.507 Pancreas(21;279 768 2492 4877 24026) NA HNSCC(31;0.082) 11 48 0 0 0.008291 0 0 KRTAP1-3 81850 broad.mit.edu 37 17 39191008 39191009 + Missense_Mutation DNP GG GG AT rs71300033 TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr17:39191008_39191009GG>AT uc002hvv.2 - 1 99_100 c.65_66CC>AT c.(64-66)TCC>TAT p.S22Y NM_030966 NP_112228 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 22 extracellular region|keratin filament structural constituent of epidermis 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GGCAGCAGCTGGAGCCGCATGT 0.589 NA 8 94 0 0 0.004672 0 0 KRTAP1-3 81850 broad.mit.edu 37 17 39191048 39191048 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr17:39191048C>G uc002hvv.2 - 1 60 c.26G>C c.(25-27)TGT>TCT p.C9S NM_030966 NP_112228 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 9 extracellular region|keratin filament structural constituent of epidermis 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GGGATATCCACAGAAGCTGGT 0.592 NA 13 96 0 0 0.006122 0 0 KRT38 8687 broad.mit.edu 37 17 39595502 39595503 + Nonsense_Mutation DNP CC CC AG TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr17:39595502_39595503CC>AG uc002hwq.1 - 3 1107_1108 c.684_685GG>CT c.(682-687)CAGGAG>CACTAG p.228_229QE>H* NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 228_229 Rod.|Coil 1B. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) TTCAGGGACTCCTGCTGGGCCT 0.658 NA 14 84 0 0 0.004672 0 0 BRIP1 83990 broad.mit.edu 37 17 59760881 59760881 + Missense_Mutation SNP T T G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr17:59760881T>G uc002izk.1 - 20 3667 c.3526A>C c.(3526-3528)ATA>CTA p.I1176L NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 1176 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 ACTTCTTTTATAGTTCTAATT 0.318 NA F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 16 45 0 0 0.006122 0 0 SRP68 6730 broad.mit.edu 37 17 74046574 74046574 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr17:74046574C>G uc002jqk.1 - 9 1047 c.1012G>C c.(1012-1014)GAA>CAA p.E338Q SRP68_uc010wsu.1_Missense_Mutation_p.E237Q|SRP68_uc002jql.1_Missense_Mutation_p.E300Q|SRP68_uc002jqj.1_5'UTR NM_014230 NP_055045 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 338 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding ovary(1) 1 AGCATTGATTCAAACAGGCGC 0.527 NA 32 170 0 0 0.005524 0 0 SRP68 6730 broad.mit.edu 37 17 74046604 74046604 + Nonsense_Mutation SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr17:74046604C>A uc002jqk.1 - 9 1017 c.982G>T c.(982-984)GAA>TAA p.E328* SRP68_uc010wsu.1_Nonsense_Mutation_p.E227*|SRP68_uc002jql.1_Nonsense_Mutation_p.E290*|SRP68_uc002jqj.1_5'UTR NM_014230 NP_055045 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 328 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding p.E328K(1) ovary(1) 1 TCTTCGCTTTCAGCCTAAACA 0.512 NA 24 128 1.17739e-12 1.34372e-12 0.005443 1 0 CIDEA 1149 broad.mit.edu 37 18 12274208 12274208 + Silent SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr18:12274208C>A uc002kqt.3 + 4 512 c.447C>A c.(445-447)GCC>GCA p.A149A CIDEA_uc002kqu.3_Silent_p.A183A|CIDEA_uc010dlc.2_RNA NM_001279 NP_001270 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a isoform 149 DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity ovary(1)|central_nervous_system(1) 2 ACGTGAAGGCCACCATGTATG 0.592 NA 33 151 6.53348e-20 7.89676e-20 0.017118 1 0 DSG1 1828 broad.mit.edu 37 18 28934418 28934418 + Silent SNP T T A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr18:28934418T>A uc002kwp.2 + 15 2471 c.2259T>A c.(2257-2259)CCT>CCA p.P753P DSG1_uc010xbp.1_Silent_p.P112P NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 753 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CCCTGGGACCTAAATTTAAGA 0.473 NA 61 271 0 0 0.01441 0 0 ONECUT2 9480 broad.mit.edu 37 18 55143772 55143772 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr18:55143772C>G uc002lgo.2 + 2 1364 c.1332C>G c.(1330-1332)ATC>ATG p.I444M NM_004852 NP_004843 O95948 ONEC2_HUMAN one cut domain, family member 2 444 Homeobox. organ morphogenesis nucleus sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) TCTTCGCCATCTTCAAGGAGA 0.527 NA 18 73 0 0 0.006122 0 0 CDH20 28316 broad.mit.edu 37 18 59212284 59212284 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr18:59212284G>T uc010dps.1 + 9 1567 c.1555G>T c.(1555-1557)GAC>TAC p.D519Y CDH20_uc002lif.2_Missense_Mutation_p.D513Y NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 519 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) GAGTGCGGTGGACCAAGATGA 0.512 NA 37 215 2.2871e-25 2.81983e-25 0.007835 1 0 XAB2 56949 broad.mit.edu 37 19 7692716 7692716 + Silent SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:7692716G>A uc002mgx.2 - 3 248 c.222C>T c.(220-222)TAC>TAT p.Y74Y uc010dvi.1_5'Flank NM_020196 NP_064581 Q9HCS7 SYF1_HUMAN XPA binding protein 2 74 HAT 2. transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding central_nervous_system(2)|breast(1)|skin(1) 4 GCGCCTTCAGGTATCGGTACC 0.552 NA Direct_reversal_of_damage|NER 7 47 0 0 0.00308 0 0 ARRDC2 27106 broad.mit.edu 37 19 18120660 18120660 + Missense_Mutation SNP G G A rs147746417 TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:18120660G>A uc002nhv.2 + 5 804 c.661G>A c.(661-663)GTG>ATG p.V221M ARRDC2_uc002nhu.2_Missense_Mutation_p.V216M NM_015683 NP_056498 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 isoform 1 221 pancreas(1) 1 TCGGGCAGCCGTGGTGCAGAC 0.682 NA 3 33 0 0 0.014758 0 0 Unknown 0 broad.mit.edu 37 19 23405580 23405580 + Silent SNP T T C rs10412126 by1000genomes TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:23405580T>C uc010xri.1 - 4 1585 c.1467A>G c.(1465-1467)CTA>CTG p.L489L SubName: Full=cDNA FLJ56866, moderately similar to Zinc finger protein 43; NA GGTGTGAGGATAGGTTAAAAG 0.383 NA 3 62 0 0 0.009096 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767488 31767488 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:31767488G>T uc002nsy.3 - 2 3276 c.3211C>A c.(3211-3213)CAC>AAC p.H1071N NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 1071 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TACAGAAGGTGGTCTTCCGGA 0.473 NA 17 127 8.34094e-07 8.89121e-07 0.008871 1 0 KIAA0355 9710 broad.mit.edu 37 19 34833289 34833289 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:34833289C>G uc002nvd.3 + 10 3309 c.2450C>G c.(2449-2451)ACC>AGC p.T817S NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 817 ovary(1) 1 Esophageal squamous(110;0.162) AGAAATAACACCTGGCCCAAC 0.522 NA 6 303 0 0 0.004482 0 0 ZNF568 374900 broad.mit.edu 37 19 37441464 37441464 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:37441464G>C uc002ofc.2 + 7 1924 c.1409G>C c.(1408-1410)GGA>GCA p.G470A ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.G394A|ZNF568_uc010efe.2_Missense_Mutation_p.G394A|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATTCACACTGGAGAGAAACCT 0.398 NA 14 67 0 0 0.00499 0 0 ZNF571 51276 broad.mit.edu 37 19 38055625 38055625 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:38055625G>A uc002ogt.2 - 4 1806 c.1705C>T c.(1705-1707)CGT>TGT p.R569C uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.R569C NM_016536 NP_057620 Q7Z3V5 ZN571_HUMAN zinc finger protein 571 569 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTGAGCCACGACTAAAGGCC 0.443 NA 58 268 0 0 0.01441 0 0 HIPK4 147746 broad.mit.edu 37 19 40886395 40886395 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:40886395G>T uc002onp.2 - 3 1788 c.1503C>A c.(1501-1503)TTC>TTA p.F501L NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 501 cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) TGAGGTTGCTGAAGTTGGAGT 0.667 NA 25 212 2.41591e-17 2.86365e-17 0.004656 1 0 CCDC97 90324 broad.mit.edu 37 19 41828552 41828552 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:41828552G>A uc002oqg.2 + 5 1086 c.964G>A c.(964-966)GAG>AAG p.E322K CYP2F1_uc010xvw.1_Intron NM_052848 NP_443080 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 322 0 GGCACGGGATGAGGAGGAGAG 0.627 NA 63 442 0 0 0.01441 0 0 CCDC97 90324 broad.mit.edu 37 19 41828555 41828555 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:41828555G>A uc002oqg.2 + 5 1089 c.967G>A c.(967-969)GAG>AAG p.E323K CYP2F1_uc010xvw.1_Intron NM_052848 NP_443080 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 323 0 ACGGGATGAGGAGGAGAGGTA 0.632 NA 62 434 0 0 0.01441 0 0 PRR19 284338 broad.mit.edu 37 19 42813884 42813884 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:42813884C>T uc002oti.2 + 2 526 c.148C>T c.(148-150)CGG>TGG p.R50W PRR19_uc002oth.1_Missense_Mutation_p.R50W|PRR19_uc002otj.2_Missense_Mutation_p.R50W NM_199285 NP_954979 A6NJB7 PRR19_HUMAN proline rich 19 50 0 Prostate(69;0.00682) TGTGGCCATTCGGGATCCACC 0.637 NA 6 28 0 0 0.004482 0 0 ZNF225 7768 broad.mit.edu 37 19 44622435 44622435 + Missense_Mutation SNP T T A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:44622435T>A uc002oyj.1 + 3 353 c.110T>A c.(109-111)ATG>AAG p.M37K ZNF225_uc010eje.1_5'UTR|ZNF225_uc010ejf.1_Missense_Mutation_p.M37K NM_013362 NP_037494 Q9UK10 ZN225_HUMAN zinc finger protein 225 37 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) CGAGAAGTGATGCTGGAGAAC 0.537 NA 128 766 0 0 0.01441 0 0 ZFP112 7771 broad.mit.edu 37 19 44831777 44831777 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:44831777G>A uc010ejj.2 - 5 2664 c.2551C>T c.(2551-2553)CAC>TAC p.H851Y ZFP112_uc002ozc.3_Missense_Mutation_p.H845Y|ZFP112_uc010xwy.1_Missense_Mutation_p.H868Y|ZFP112_uc010xwz.1_Missense_Mutation_p.H850Y NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 851 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 ACTCTCTGGTGAGCCTGAAGA 0.458 Melanoma(53;975 1202 7512 15993 27273) NA 42 375 0 0 0.01441 0 0 EML2 24139 broad.mit.edu 37 19 46133262 46133262 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:46133262G>A uc002pcn.2 - 7 588 c.553C>T c.(553-555)CAC>TAC p.H185Y EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.H69Y|EML2_uc010xxl.1_Missense_Mutation_p.H332Y|EML2_uc010xxm.1_Missense_Mutation_p.H386Y|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Missense_Mutation_p.H185Y|EML2_uc010ekj.2_Missense_Mutation_p.H185Y|EML2_uc010ekk.1_RNA NM_012155 NP_036287 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 185 WD 2. sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding large_intestine(1)|ovary(1) 2 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) GAGAGCATGTGATCATTGGAT 0.582 NA 15 80 0 0 0.004007 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51633160 51633160 + Nonsense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:51633160G>T uc002pvu.2 + 7 1283 c.1216G>T c.(1216-1218)GAA>TAA p.E406* SIGLEC9_uc010yct.1_Intron NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 406 Cytoplasmic (Potential). cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) GCCCCTGACTGAACCTTGGGC 0.478 NA 24 100 8.88839e-20 1.06591e-19 0.010818 1 0 ZNF525 170958 broad.mit.edu 37 19 53884192 53884192 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:53884192G>T uc010eqn.2 + 4 445 c.252G>T c.(250-252)ATG>ATT p.M84I ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.1_Intron NR_003699 Homo sapiens cDNA FLJ39718 fis, clone SMINT2013695. 0 AAAAATTGATGGGTAGTACAG 0.373 NA 19 138 8.34094e-07 8.89121e-07 0.008871 1 0 NLRP2 55655 broad.mit.edu 37 19 55481465 55481465 + Missense_Mutation SNP T T A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:55481465T>A uc002qij.2 + 2 168 c.82T>A c.(82-84)TAT>AAT p.Y28N NLRP2_uc010yfp.1_Missense_Mutation_p.Y28N|NLRP2_uc010esn.2_Missense_Mutation_p.Y28N|NLRP2_uc010eso.2_Missense_Mutation_p.Y28N|NLRP2_uc010esp.2_Missense_Mutation_p.Y28N NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 28 DAPIN. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CAAGTTCAAGTATCTGATCAC 0.557 NA 14 126 0 0 0.003163 0 0 NLRP8 126205 broad.mit.edu 37 19 56467063 56467063 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:56467063G>C uc002qmh.2 + 3 1710 c.1639G>C c.(1639-1641)GGA>CGA p.G547R NLRP8_uc010etg.2_Missense_Mutation_p.G547R NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 547 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GAGTCCCAGAGGAAGCAAAAG 0.468 NA 20 119 0 0 0.010504 0 0 ZNF444 55311 broad.mit.edu 37 19 56669884 56669884 + Missense_Mutation SNP G G A rs61736532 byFrequency TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:56669884G>A uc002qmm.2 + 4 686 c.319G>A c.(319-321)GGG>AGG p.G107R ZNF444_uc002qmn.1_Missense_Mutation_p.G107R NM_018337 NP_060807 Q8N0Y2 ZN444_HUMAN zinc finger protein 444 107 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0531) CTCCCCCGATGGGTCGTCAGC 0.597 NA 4 89 0 0 0.001168 0 0 PEG3 5178 broad.mit.edu 37 19 57327147 57327147 + Missense_Mutation SNP T T A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:57327147T>A uc002qnu.2 - 7 3014 c.2663A>T c.(2662-2664)AAT>ATT p.N888I ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.N859I|PEG3_uc002qnv.2_Missense_Mutation_p.N888I|PEG3_uc002qnw.2_Missense_Mutation_p.N764I|PEG3_uc002qnx.2_Missense_Mutation_p.N762I|PEG3_uc010etr.2_Missense_Mutation_p.N888I NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 888 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ATAGTTGCGATTCTTACTGCC 0.448 NA 30 179 0 0 0.009535 0 0 ZIM3 114026 broad.mit.edu 37 19 57646337 57646337 + Silent SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:57646337G>A uc002qnz.1 - 5 1754 c.1368C>T c.(1366-1368)TTC>TTT p.F456F NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 456 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACCTGTCAGCGAAGGCTTTAC 0.403 NA 7 274 0 0 0.008291 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17699059 17699059 + Silent SNP A A T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr2:17699059A>T uc002rcl.1 - 1 648 c.624T>A c.(622-624)ATT>ATA p.I208I RAD51AP2_uc010exn.1_Silent_p.I199I NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 208 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ATCTGTTCTTAATTTCATGAA 0.308 NA 23 99 0 0 0.004656 0 0 C2orf39 92749 broad.mit.edu 37 2 26678013 26678013 + Missense_Mutation SNP A A T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr2:26678013A>T uc002rhg.2 + 16 2152 c.2078A>T c.(2077-2079)CAG>CTG p.Q693L NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 693 Potential. 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCCTGACCCAGAGGGCCAAG 0.562 NA 40 119 0 0 0.01441 0 0 ALK 238 broad.mit.edu 37 2 29498008 29498008 + Silent SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr2:29498008G>T uc002rmy.2 - 11 2905 c.1998C>A c.(1996-1998)CCC>CCA p.P666P NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 666 Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.P666L(1) NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) AATTTTCCCCGGGTTTCAGCT 0.463 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 23 45 2.27525e-19 2.71791e-19 0.021523 1 0 TTC7A 57217 broad.mit.edu 37 2 47221537 47221537 + Silent SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr2:47221537G>A uc002rvo.2 + 7 1253 c.885G>A c.(883-885)CTG>CTA p.L295L TTC7A_uc002rvm.2_Silent_p.L261L|TTC7A_uc002rvn.1_Silent_p.L176L|TTC7A_uc010fbb.2_Silent_p.L295L|TTC7A_uc010fbc.2_Intron|TTC7A_uc002rvp.2_Silent_p.L176L|TTC7A_uc002rvq.2_Silent_p.L35L|TTC7A_uc002rvr.2_5'UTR NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 295 binding breast(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) TGCACTCCCTGAGTGAGGAGT 0.632 NA 6 239 0 0 0.00308 0 0 DYSF 8291 broad.mit.edu 37 2 71839841 71839841 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr2:71839841G>T uc002sie.2 + 39 4614 c.4238G>T c.(4237-4239)CGC>CTC p.R1413L DYSF_uc010feg.2_Missense_Mutation_p.R1444L|DYSF_uc010feh.2_Missense_Mutation_p.R1399L|DYSF_uc002sig.3_Missense_Mutation_p.R1399L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1413L|DYSF_uc010fef.2_Missense_Mutation_p.R1430L|DYSF_uc010fei.2_Missense_Mutation_p.R1430L|DYSF_uc010fek.2_Missense_Mutation_p.R1431L|DYSF_uc010fej.2_Missense_Mutation_p.R1400L|DYSF_uc010fel.2_Missense_Mutation_p.R1400L|DYSF_uc010feo.2_Missense_Mutation_p.R1445L|DYSF_uc010fem.2_Missense_Mutation_p.R1414L|DYSF_uc010fen.2_Missense_Mutation_p.R1431L|DYSF_uc002sif.2_Missense_Mutation_p.R1414L|DYSF_uc010yqy.1_Missense_Mutation_p.R294L|DYSF_uc010yqz.1_Missense_Mutation_p.R153L NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1413 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CAGTTTGGCCGCCGGCCTGTG 0.647 NA 16 19 5.45727e-16 6.41909e-16 0.008361 1 0 LRRTM4 80059 broad.mit.edu 37 2 77745477 77745477 + Silent SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr2:77745477G>A uc002snr.2 - 3 1933 c.1518C>T c.(1516-1518)TGC>TGT p.C506C LRRTM4_uc002snq.2_Silent_p.C506C|LRRTM4_uc002sns.2_Silent_p.C506C|LRRTM4_uc002snt.2_Silent_p.C507C NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 506 Cytoplasmic (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) TGGTATATGTGCAGGGCCCAG 0.448 NA 9 49 0 0 0.016723 0 0 GPR148 344561 broad.mit.edu 37 2 131486979 131486979 + Missense_Mutation SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr2:131486979C>A uc002trv.1 + 1 257 c.255C>A c.(253-255)CAC>CAA p.H85Q NM_207364 NP_997247 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 85 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(110;0.1) AGGAGCCCCACTACCTGCTCC 0.632 NA 8 80 5.4927e-09 5.97965e-09 0.004482 1 0 LRP1B 53353 broad.mit.edu 37 2 141299477 141299477 + Missense_Mutation SNP A A G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr2:141299477A>G uc002tvj.1 - 44 8230 c.7258T>C c.(7258-7260)TGG>CGG p.W2420R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2420 Extracellular (Potential).|LDL-receptor class B 27. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGTCCGACCAGAATATATAA 0.383 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 47 78 0 0 0.01441 0 0 TBR1 10716 broad.mit.edu 37 2 162273111 162273111 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr2:162273111G>C uc002ubw.1 + 1 492 c.190G>C c.(190-192)GAT>CAT p.D64H TBR1_uc010foy.2_5'Flank NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 64 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 GAATCAGTCAGATACAGACAA 0.483 NA 9 124 0 0 0.004482 0 0 PDE11A 50940 broad.mit.edu 37 2 178762821 178762821 + Silent SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr2:178762821G>A uc002ulq.2 - 4 1584 c.1266C>T c.(1264-1266)CGC>CGT p.R422R PDE11A_uc002ulr.2_Silent_p.R172R|PDE11A_uc002uls.1_Silent_p.R64R|PDE11A_uc002ult.1_Silent_p.R172R|PDE11A_uc002ulu.1_Silent_p.R64R NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 422 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) AAACAGAACAGCGTTCACATT 0.373 NA Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 20 197 0 0 0.01892 0 0 DNAH7 56171 broad.mit.edu 37 2 196866436 196866436 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr2:196866436G>A uc002utj.3 - 11 1237 c.1136C>T c.(1135-1137)TCC>TTC p.S379F NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 379 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 ATCTTGCATGGAGACTAAAGT 0.378 NA 57 189 0 0 0.01441 0 0 CCDC150 284992 broad.mit.edu 37 2 197531457 197531457 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr2:197531457G>C uc002utp.1 + 7 912 c.777G>C c.(775-777)CAG>CAC p.Q259H CCDC150_uc002uto.1_Missense_Mutation_p.Q259H|CCDC150_uc010zgq.1_Intron|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 259 Potential. 0 ACATTTTGCAGCAAAACTGCA 0.378 NA 4 27 0 0 0.001168 0 0 CPS1 1373 broad.mit.edu 37 2 211518752 211518752 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr2:211518752C>T uc002vee.3 + 29 3616 c.3484C>T c.(3484-3486)CAC>TAC p.H1162Y CPS1_uc010fur.2_Missense_Mutation_p.H1168Y|CPS1_uc010fus.2_Missense_Mutation_p.H711Y NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1162 ATP-grasp 2. EH -> AT (in Ref. 1; BAA14328). carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GTGACAGGAGCACCCAGTGGT 0.433 NA 84 186 0 0 0.01441 0 0 PRR21 643905 broad.mit.edu 37 2 240982137 240982137 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr2:240982137G>A uc010zod.1 - 1 263 c.263C>T c.(262-264)TCA>TTA p.S88L NM_001080835 NP_001074304 Q8WXC7 PRR21_HUMAN proline rich 21 88 Pro-rich. ovary(1)|skin(1) 2 AGGCATGGATGAAGGACTGTG 0.607 NA 99 248 0 0 0.01441 0 0 STK25 10494 broad.mit.edu 37 2 242438432 242438432 + Missense_Mutation SNP T T A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr2:242438432T>A uc002wbm.2 - 6 1014 c.743A>T c.(742-744)GAG>GTG p.E248V STK25_uc002wbk.2_Missense_Mutation_p.E67V|STK25_uc002wbl.2_Missense_Mutation_p.E67V|STK25_uc002wbn.2_Missense_Mutation_p.E248V|STK25_uc002wbo.2_Missense_Mutation_p.E171V|STK25_uc010zos.1_Missense_Mutation_p.E154V|STK25_uc010zot.1_Missense_Mutation_p.E174V|STK25_uc002wbp.2_Missense_Mutation_p.E248V|STK25_uc010fzo.2_Missense_Mutation_p.E171V|STK25_uc010zou.1_Missense_Mutation_p.E154V|STK25_uc010zov.1_Missense_Mutation_p.E154V NM_006374 NP_006365 O00506 STK25_HUMAN serine/threonine kinase 25 248 Protein kinase. response to oxidative stress|signal transduction Golgi apparatus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity 0 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) GAGGCAGGCCTCCACGAACTC 0.637 NSCLC(99;1100 1566 7679 28647 48345) NA 3 10 0 0 0.004672 0 0 TGM3 7053 broad.mit.edu 37 20 2290900 2290900 + Silent SNP G G A rs140997555 TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr20:2290900G>A uc002wfx.3 + 3 355 c.258G>A c.(256-258)GCG>GCA p.A86A NM_003245 NP_003236 Q08188 TGM3_HUMAN transglutaminase 3 precursor 86 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(4)|ovary(3)|breast(1)|skin(1) 9 L-Glutamine(DB00130) GCTGGAGTGCGGTGCTTCAGG 0.562 NA 70 234 0 0 0.01441 0 0 EMILIN3 90187 broad.mit.edu 37 20 39990047 39990047 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr20:39990047C>T uc002xjy.1 - 4 2386 c.2162G>A c.(2161-2163)AGA>AAA p.R721K NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 721 proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) CAGGCCCTCTCTGGGCCTCAG 0.672 NA 9 15 0 0 0.004482 0 0 MOCS3 27304 broad.mit.edu 37 20 49575810 49575810 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr20:49575810C>T uc002xvy.1 + 1 448 c.431C>T c.(430-432)TCG>TTG p.S144L DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank NM_014484 NP_055299 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 144 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity skin(2)|ovary(1) 3 GCCGCCGCCTCGCTGCGCCGC 0.637 NA 12 45 0 0 0.010504 0 0 DOK5 55816 broad.mit.edu 37 20 53205055 53205055 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr20:53205055C>G uc002xwy.2 + 3 428 c.208C>G c.(208-210)CGA>GGA p.R70G DOK5_uc010gin.2_5'UTR|DOK5_uc002xwz.2_5'UTR NM_018431 NP_060901 Q9P104 DOK5_HUMAN docking protein 5 70 PH. insulin receptor binding ovary(1) 1 Colorectal(105;0.202) GAACGTAGCTCGATTGCCAAA 0.408 NA 10 699 0 0 0.016723 0 0 PCK1 5105 broad.mit.edu 37 20 56138667 56138667 + Missense_Mutation SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr20:56138667C>A uc002xyn.3 + 6 1008 c.845C>A c.(844-846)GCC>GAC p.A282D PCK1_uc010zzm.1_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 282 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) TACCTGGCGGCCGCATTTCCC 0.557 NA 20 35 1.64113e-05 1.73734e-05 0.010504 1 0 GRIK1 2897 broad.mit.edu 37 21 30949386 30949386 + Silent SNP T T A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr21:30949386T>A uc002yno.1 - 14 2492 c.2028A>T c.(2026-2028)GTA>GTT p.V676V GRIK1_uc002ynn.2_Silent_p.V661V|GRIK1_uc011acs.1_Silent_p.V676V|GRIK1_uc011act.1_Silent_p.V537V NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 676 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CCATTCTCTCTACTGTCAAGA 0.453 NA 17 125 0 0 0.00499 0 0 DSCAM 1826 broad.mit.edu 37 21 41741116 41741116 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr21:41741116C>T uc002yyq.1 - 4 1017 c.565G>A c.(565-567)GAA>AAA p.E189K DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 189 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AATCCATCTTCATTCTGTACA 0.428 Melanoma(134;970 1778 1785 21664 32388) NA 9 75 0 0 0.004482 0 0 P2RX6 9127 broad.mit.edu 37 22 21377428 21377428 + Silent SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr22:21377428C>A uc010gsu.1 + 6 579 c.579C>A c.(577-579)GCC>GCA p.A193A P2RX6_uc002ztz.2_Silent_p.A167A|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA NM_005446 NP_005437 O15547 P2RX6_HUMAN purinergic receptor P2X6 isoform 1 193 Extracellular (Potential). muscle contraction|protein homooligomerization cell junction|cytoplasm|integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 TGGCCCAGGCCCAGAACTTCA 0.582 NA 19 57 1.50039e-11 1.6997e-11 0.012319 1 0 CSPG5 10675 broad.mit.edu 37 3 47610668 47610668 + Missense_Mutation SNP T T C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr3:47610668T>C uc003crp.3 - 4 1608 c.1432A>G c.(1432-1434)ACC>GCC p.T478A CSPG5_uc003crn.2_Missense_Mutation_p.T340A|CSPG5_uc003cro.3_Missense_Mutation_p.T478A|CSPG5_uc011bbb.1_Missense_Mutation_p.T340A NM_006574 NP_006565 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan 478 Cytoplasmic (Potential). cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TCGGCAATGGTGGAGAGGGAG 0.498 NA 12 51 0 0 0.020292 0 0 SLC9A10 285335 broad.mit.edu 37 3 111870756 111870756 + Missense_Mutation SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr3:111870756C>A uc003dyu.2 - 28 3694 c.3472G>T c.(3472-3474)GGG>TGG p.G1158W SLC9A10_uc011bhu.1_Missense_Mutation_p.G421W|SLC9A10_uc010hqc.2_Missense_Mutation_p.G1110W NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 1158 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 AACTTTGTCCCCAGCAGGGAG 0.502 NA 73 176 2.75442e-36 3.47986e-36 0.01441 1 0 SLC35A5 55032 broad.mit.edu 37 3 112299565 112299565 + Missense_Mutation SNP A A G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr3:112299565A>G uc003dze.2 + 6 846 c.601A>G c.(601-603)AGA>GGA p.R201G NM_017945 NP_060415 Q9BS91 S35A5_HUMAN solute carrier family 35, member A5 201 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 TGAGTGTCCCAGAAAAGACAA 0.453 NA 21 175 0 0 0.016522 0 0 ZDHHC23 254887 broad.mit.edu 37 3 113673059 113673059 + Missense_Mutation SNP C C T rs147787442 TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr3:113673059C>T uc003eau.2 + 3 973 c.674C>T c.(673-675)CCT>CTT p.P225L ZDHHC23_uc003eav.2_Missense_Mutation_p.P219L NM_173570 NP_775841 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC domain containing 23 225 integral to membrane acyltransferase activity|zinc ion binding ovary(2) 2 AAAGGGTTCCCTGGGGCAGAC 0.572 NA 5 131 0 0 0.014758 0 0 ATR 545 broad.mit.edu 37 3 142171996 142171996 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr3:142171996C>T uc003eux.3 - 46 7857 c.7735G>A c.(7735-7737)GAA>AAA p.E2579K ATR_uc003euy.1_Missense_Mutation_p.E465K NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 2579 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TCTCCAGTTTCATTCAGTGGC 0.368 NA Other_conserved_DNA_damage_response_genes 34 82 0 0 0.00874 0 0 IGSF10 285313 broad.mit.edu 37 3 151164737 151164737 + Missense_Mutation SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr3:151164737C>A uc011bod.1 - 4 3032 c.3032G>T c.(3031-3033)GGG>GTG p.G1011V NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1011 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCTCTGCCTCCCAAAGCGTCT 0.498 NA 29 160 1.08312e-15 1.26433e-15 0.009535 1 0 GHSR 2693 broad.mit.edu 37 3 172165759 172165759 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr3:172165759G>T uc003fib.1 - 1 445 c.445C>A c.(445-447)CTC>ATC p.L149I GHSR_uc011bpv.1_Missense_Mutation_p.L149I NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 149 Cytoplasmic (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TTGGCCCGGAGTGGGAAGCAG 0.617 Esophageal Squamous(93;641 1401 20883 29581 34638) NA 80 91 3.48759e-61 4.4427e-61 0.01441 1 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). 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.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) 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) TGAAATCACTGAGCAGGAGAA 0.353 Colon(199;1504 1750 3362 26421 31210 32040) E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 28 21 0 0 0.010818 0 0 MAEA 10296 broad.mit.edu 37 4 1309203 1309203 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr4:1309203G>A uc003gda.2 + 3 301 c.271G>A c.(271-273)GCC>ACC p.A91T MAEA_uc010ibs.1_Missense_Mutation_p.A91T|MAEA_uc003gdb.2_Missense_Mutation_p.A91T|MAEA_uc011bvb.1_Intron|MAEA_uc003gdc.2_Missense_Mutation_p.A91T|MAEA_uc003gdd.2_RNA|MAEA_uc011bvc.1_Missense_Mutation_p.A90T|MAEA_uc011bvd.1_Missense_Mutation_p.A43T|MAEA_uc010ibt.2_5'UTR NM_001017405 NP_001017405 Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher isoform 1 91 Extracellular and involved in cell to cell contact. cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle actin binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(23;0.0201) ATCCATCCAGGCCGAGGACGA 0.662 NA 14 48 0 0 0.003163 0 0 GABRA2 2555 broad.mit.edu 37 4 46314600 46314600 + Missense_Mutation SNP T T G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr4:46314600T>G uc003gxc.3 - 4 1062 c.389A>C c.(388-390)AAT>ACT p.N130T GABRA2_uc010igc.2_Missense_Mutation_p.N130T|GABRA2_uc011bzc.1_Missense_Mutation_p.N75T|GABRA2_uc003gxe.2_Missense_Mutation_p.N130T NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 130 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTTTTTCCCATTGTGAAAAAA 0.353 NA 34 238 0 0 0.005524 0 0 LPHN3 23284 broad.mit.edu 37 4 62812790 62812790 + Missense_Mutation SNP A A C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr4:62812790A>C uc010ihh.2 + 13 2547 c.2374A>C c.(2374-2376)AAC>CAC p.N792H LPHN3_uc003hcq.3_Missense_Mutation_p.N792H|LPHN3_uc003hct.2_Missense_Mutation_p.N185H NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 779 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 AGAGTTCAGTAACAAGGTTTA 0.348 NA 29 280 0 0 0.008361 0 0 HELQ 113510 broad.mit.edu 37 4 84352854 84352854 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr4:84352854C>T uc003hom.2 - 11 2437 c.2258G>A c.(2257-2259)GGA>GAA p.G753E HELQ_uc010ikb.2_Missense_Mutation_p.G686E|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 753 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 TGTTTGGATTCCCTTGGTGAA 0.308 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 14 49 0 0 0.007413 0 0 FAM13A 10144 broad.mit.edu 37 4 89660226 89660226 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr4:89660226C>T uc003hse.1 - 20 2725 c.2517G>A c.(2515-2517)CGG>CGA p.R839R FAM13A_uc011cdp.1_5'Flank|FAM13A_uc003hsa.1_Silent_p.R310R|FAM13A_uc003hsb.1_Silent_p.R513R|FAM13A_uc003hsd.1_Silent_p.R513R|FAM13A_uc003hsc.1_Silent_p.R499R|FAM13A_uc011cdq.1_Silent_p.R485R|FAM13A_uc003hsf.1_Silent_p.R425R|FAM13A_uc003hsg.1_Silent_p.R310R NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 839 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 GTTTGACCAGCCGGTACCTGT 0.507 NA 9 81 0 0 0.008291 0 0 INTS12 57117 broad.mit.edu 37 4 106616825 106616825 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr4:106616825C>G uc003hxw.2 - 4 415 c.157G>C c.(157-159)GAT>CAT p.D53H INTS12_uc010ilr.2_Missense_Mutation_p.D53H NM_020395 NP_065128 Q96CB8 INT12_HUMAN integrator complex subunit 12 53 snRNA processing integrator complex protein binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) GGCTCCACATCCTAAAAGATG 0.294 NA 15 184 0 0 0.004007 0 0 SPATA5 166378 broad.mit.edu 37 4 123900467 123900467 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr4:123900467C>G uc003iez.3 + 10 1868 c.1795C>G c.(1795-1797)CTG>GTG p.L599V SPATA5_uc003iey.2_Missense_Mutation_p.L598V NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 599 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity 0 GAAGATTACTCTGAAGGATTT 0.443 NA 96 267 0 0 0.01441 0 0 GYPA 2993 broad.mit.edu 37 4 145038046 145038046 + Silent SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr4:145038046C>G uc003ijo.3 - 5 434 c.318G>C c.(316-318)ACG>ACC p.T106T GYPA_uc003ijn.2_Intron|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Silent_p.T73T|GYPA_uc003ijp.3_Silent_p.T74T|GYPA_uc010ioq.2_Silent_p.T93T|GYPA_uc010ior.2_Silent_p.T41T|GYPA_uc010ios.1_RNA NM_002099 NP_002090 P02724 GLPA_HUMAN glycophorin A precursor 106 Helical. interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2) 2 all_hematologic(180;0.15) TTAAGAGGATCGTTCCAATAA 0.358 NA 6 237 0 0 0.004482 0 0 SORBS2 8470 broad.mit.edu 37 4 186544260 186544260 + Missense_Mutation SNP T T A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr4:186544260T>A uc003iyl.2 - 13 3169 c.2311A>T c.(2311-2313)AGG>TGG p.R771W SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.R871W|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.R675W|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.R885W|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 771 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GATGAGTTCCTCTCGGGAACA 0.562 Esophageal Squamous(153;41 2433 9491 36028) NA 4 120 0 0 0.001984 0 0 CDH12 1010 broad.mit.edu 37 5 21751993 21751993 + Silent SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr5:21751993G>A uc010iuc.2 - 12 2696 c.2238C>T c.(2236-2238)TCC>TCT p.S746S CDH12_uc011cno.1_Silent_p.S706S|CDH12_uc003jgk.2_Silent_p.S746S|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 746 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 ACTCTGCCACGGACCCACTCC 0.512 NA HNSCC(59;0.17) 43 161 0 0 0.01441 0 0 UGT3A2 167127 broad.mit.edu 37 5 36037956 36037956 + Missense_Mutation SNP T T C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr5:36037956T>C uc003jjz.1 - 6 1331 c.1238A>G c.(1237-1239)AAG>AGG p.K413R UGT3A2_uc011cos.1_Missense_Mutation_p.K379R|UGT3A2_uc011cot.1_Missense_Mutation_p.K111R NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 413 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTTGAGCTTCTTTAACTGAAT 0.463 NA 96 506 0 0 0.01441 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54649065 54649065 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr5:54649065G>A uc003jpy.3 + 14 1767 c.1501G>A c.(1501-1503)GCC>ACC p.A501T SKIV2L2_uc011cqi.1_Missense_Mutation_p.A400T NM_015360 NP_056175 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 501 Helicase C-terminal. maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(1)|skin(1) 2 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) ATTTACAAATGCCCGCAAATT 0.323 Melanoma(2;92 134 23744 29976 33782) NA 9 75 0 0 0.008291 0 0 POLK 51426 broad.mit.edu 37 5 74865234 74865234 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr5:74865234G>A uc003kdw.2 + 4 421 c.325G>A c.(325-327)GAT>AAT p.D109N POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003kdz.2_Missense_Mutation_p.D109N|POLK_uc003kea.2_Missense_Mutation_p.D109N|POLK_uc003keb.2_Missense_Mutation_p.D109N|POLK_uc010izq.2_Missense_Mutation_p.D109N|POLK_uc003kec.2_Missense_Mutation_p.D19N|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.D19N|POLK_uc003kee.2_Missense_Mutation_p.D109N|POLK_uc003kef.2_Missense_Mutation_p.D19N NM_016218 NP_057302 Q9UBT6 POLK_HUMAN DNA-directed DNA polymerase kappa 109 UmuC. DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|kidney(2) 4 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) CATTGACATGGATGCTTTCTA 0.343 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 12 112 0 0 0.004007 0 0 POC5 134359 broad.mit.edu 37 5 74981288 74981288 + Missense_Mutation SNP T T G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr5:74981288T>G uc003keh.3 - 10 1348 c.1151A>C c.(1150-1152)AAA>ACA p.K384T POC5_uc010izu.2_Missense_Mutation_p.K267T|POC5_uc003keg.3_Missense_Mutation_p.K359T NM_001099271 NP_001092741 Q8NA72 POC5_HUMAN proteome of centriole 5 isoform 1 384 cell cycle centriole lung(1) 1 CTCTTCCTTTTTATTATTTGT 0.383 NA 16 202 0 0 0.008871 0 0 ZCCHC9 84240 broad.mit.edu 37 5 80608439 80608439 + Silent SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr5:80608439G>T uc003khj.2 + 6 907 c.774G>T c.(772-774)CCG>CCT p.P258P RNU5E_uc011cto.1_Intron|ZCCHC9_uc003khk.3_Silent_p.P258P|ZCCHC9_uc003khi.2_Silent_p.P258P NM_001131035 NP_001124507 Q8N567 ZCHC9_HUMAN zinc finger, CCHC domain containing 9 258 nucleic acid binding|zinc ion binding p.P258L(1) ovary(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34) TACCTAAACCGCAAAAACCCA 0.388 NA 27 107 2.12542e-12 2.41668e-12 0.00632 1 0 GPR98 84059 broad.mit.edu 37 5 89943510 89943510 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr5:89943510C>G uc003kju.2 + 17 3314 c.3218C>G c.(3217-3219)TCC>TGC p.S1073C GPR98_uc003kjt.2_Translation_Start_Site NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1073 Calx-beta 8.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CAGAGCATATCCATATTTGTT 0.383 NA 37 255 0 0 0.009718 0 0 RHOBTB3 22836 broad.mit.edu 37 5 95091260 95091260 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr5:95091260C>T uc003klm.2 + 6 1380 c.843C>T c.(841-843)TTC>TTT p.F281F RHOBTB3_uc003klk.1_Silent_p.F75F NM_014899 NP_055714 O94955 RHBT3_HUMAN rho-related BTB domain containing 3 281 BTB 1. retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding lung(1)|skin(1) 2 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) GCCATGTTTTCATGCTGCTTT 0.433 NA 39 139 0 0 0.009718 0 0 TCF7 6932 broad.mit.edu 37 5 133477970 133477970 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr5:133477970G>A uc003kyt.2 + 6 926 c.730G>A c.(730-732)GAG>AAG p.E244K TCF7_uc003kyu.1_Missense_Mutation_p.E129K|TCF7_uc003kyv.2_Missense_Mutation_p.E129K|TCF7_uc003kyw.2_Missense_Mutation_p.E129K|TCF7_uc003kyx.2_Missense_Mutation_p.E42K|TCF7_uc003kyy.2_Missense_Mutation_p.E129K|TCF7_uc003kyz.2_Missense_Mutation_p.E129K|TCF7_uc003kza.2_Missense_Mutation_p.E129K|TCF7_uc003kzb.2_Missense_Mutation_p.E58K|TCF7_uc010jdu.2_5'Flank NM_003202 NP_003193 P36402 TCF7_HUMAN transcription factor 7 (T-cell specific, 244 cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription regulatory region DNA binding 0 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGGGAAGCAGGAGCTGCAGCC 0.607 NA 11 85 0 0 0.020292 0 0 KLHL3 26249 broad.mit.edu 37 5 137056262 137056262 + Missense_Mutation SNP C C G rs138386996 TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr5:137056262C>G uc010jek.2 - 2 470 c.26G>C c.(25-27)AGC>ACC p.S9T MYOT_uc011cye.1_Intron|KLHL3_uc010jem.1_Intron NM_017415 NP_059111 Q9UH77 KLHL3_HUMAN kelch-like 3 9 cytoplasm|cytoskeleton actin binding|structural molecule activity 0 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) AGTCTGGGAGCTCAGCTTGAC 0.488 NA 125 412 0 0 0.01441 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236393 140236393 + Nonsense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr5:140236393C>T uc003lhx.2 + 1 760 c.760C>T c.(760-762)CAA>TAA p.Q254* 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_Nonsense_Mutation_p.Q254*|PCDHA10_uc011dad.1_Nonsense_Mutation_p.Q254* NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 254 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTATGAAAATCAAGTGAACCA 0.403 NA 6 65 0 0 0.001984 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481829 140481829 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr5:140481829C>T uc003lio.2 + 1 1596 c.1596C>T c.(1594-1596)GGC>GGT p.G532G uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 532 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCGCGTGGGCGCCACAGACC 0.672 NA 8 41 0 0 0.006214 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140801351 140801351 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr5:140801351G>A uc003lkq.1 + 1 815 c.557G>A c.(556-558)AGA>AAA p.R186K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.R186K|PCDHGA11_uc003lkp.1_Missense_Mutation_p.R186K NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 186 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCGGGGCAGAACGGATGGG 0.542 NA 5 44 0 0 0.001168 0 0 PANK3 79646 broad.mit.edu 37 5 167995708 167995708 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr5:167995708C>G uc003lzz.1 - 2 624 c.324G>C c.(322-324)CAG>CAC p.Q108H NM_024594 NP_078870 Q9H999 PANK3_HUMAN pantothenate kinase 3 108 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) ATAGCACCGTCTGCAATGTTG 0.398 NA 6 93 0 0 0.00308 0 0 NUP153 9972 broad.mit.edu 37 6 17632972 17632972 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr6:17632972G>C uc003ncd.1 - 17 2768 c.2568C>G c.(2566-2568)GAC>GAG p.D856E NUP153_uc011dje.1_Missense_Mutation_p.D887E|NUP153_uc010jpl.1_Missense_Mutation_p.D814E NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 856 RanBP2-type 4. carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) ACAATTCACAGTCCCAGCTTC 0.478 NA 51 601 0 0 0.01441 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726495 25726495 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr6:25726495C>T uc003nfc.2 - 1 296 c.261G>A c.(259-261)GCG>GCA p.A87A HIST1H2BA_uc003nfd.2_5'Flank NM_170745 NP_734466 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 87 nucleosome assembly nucleosome|nucleus DNA binding 0 CATTGCGGATCGCTAGCTGCA 0.527 NA 36 194 0 0 0.006999 0 0 SCAND3 114821 broad.mit.edu 37 6 28542753 28542753 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr6:28542753C>T uc003nlo.2 - 3 2347 c.1729G>A c.(1729-1731)GAT>AAT p.D577N NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 577 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 TCTTCAATATCACTACTGTCT 0.373 NA 8 73 0 0 0.004482 0 0 CCHCR1 54535 broad.mit.edu 37 6 31110851 31110851 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr6:31110851G>A uc003nsr.3 - 17 2236 c.2113C>T c.(2113-2115)CTT>TTT p.L705F CCHCR1_uc011dne.1_Missense_Mutation_p.L691F|CCHCR1_uc003nsq.3_Missense_Mutation_p.L758F|CCHCR1_uc003nsp.3_Missense_Mutation_p.L794F NM_019052 NP_061925 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 isoform 705 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding skin(1) 1 AGGGAAGGAAGAACTGTCAAC 0.567 NA 121 320 0 0 0.01441 0 0 TCF19 6941 broad.mit.edu 37 6 31129531 31129531 + Silent SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr6:31129531C>A uc003nss.2 + 3 1070 c.546C>A c.(544-546)CTC>CTA p.L182L TCF19_uc003nst.2_Silent_p.L182L NM_001077511 NP_001070979 Q9Y242 TCF19_HUMAN transcription factor 19 182 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TAGGCAGCCTCAGCAAGCTCC 0.657 NA 5 40 3.59834e-05 3.78318e-05 0.001168 1 0 TRERF1 55809 broad.mit.edu 37 6 42224500 42224500 + Missense_Mutation SNP A A C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr6:42224500A>C uc003osd.2 - 12 3109 c.2546T>G c.(2545-2547)TTG>TGG p.L849W TRERF1_uc011duq.1_Missense_Mutation_p.L766W|TRERF1_uc003osb.2_Missense_Mutation_p.L605W|TRERF1_uc003osc.2_Missense_Mutation_p.L605W|TRERF1_uc003ose.2_Missense_Mutation_p.L869W NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 849 ELM2.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CAGAGAGTGCAAAGCAAATTC 0.418 NA 18 213 0 0 0.014323 0 0 FAM83B 222584 broad.mit.edu 37 6 54806253 54806253 + Silent SNP T T C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr6:54806253T>C uc003pck.2 + 5 2600 c.2484T>C c.(2482-2484)CCT>CCC p.P828P NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 828 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) ATTCATCTCCTAGAAGAAAGC 0.393 NA 19 70 0 0 0.012319 0 0 COL19A1 1310 broad.mit.edu 37 6 70852699 70852699 + Missense_Mutation SNP C C A rs143251981 byFrequency TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr6:70852699C>A uc003pfc.1 + 23 1730 c.1613C>A c.(1612-1614)CCG>CAG p.P538Q COL19A1_uc010kam.1_Missense_Mutation_p.P434Q NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 538 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 CCCAGAGGACCGCCAGGAGAT 0.358 NA 24 68 5.61819e-17 6.63378e-17 0.005443 1 0 BCLAF1 9774 broad.mit.edu 37 6 136582459 136582459 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr6:136582459C>T uc003qgx.1 - 12 2954 c.2701G>A c.(2701-2703)GAA>AAA p.E901K BCLAF1_uc011edb.1_Missense_Mutation_p.E180K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E728K|BCLAF1_uc003qgy.1_Missense_Mutation_p.E850K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.E899K NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 901 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GTCTCTTCTTCATCTTCAACA 0.368 Colon(142;1534 1789 5427 7063 28491) NA 14 369 0 0 0.00499 0 0 C6orf97 80129 broad.mit.edu 37 6 151859248 151859248 + Silent SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr6:151859248G>A uc003qol.2 + 3 344 c.255G>A c.(253-255)GAG>GAA p.E85E NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 85 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) CTGAAATGGAGAGCTACAAGG 0.383 NA 21 187 0 0 0.016522 0 0 SYNE1 23345 broad.mit.edu 37 6 152680536 152680536 + Missense_Mutation SNP C C A rs139823841 by1000genomes TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr6:152680536C>A uc010kiw.2 - 65 10959 c.10357G>T c.(10357-10359)GGG>TGG p.G3453W SYNE1_uc003qot.3_Missense_Mutation_p.G3460W|SYNE1_uc003qou.3_Missense_Mutation_p.G3453W|SYNE1_uc010kja.1_Missense_Mutation_p.G158W NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3453 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATGCCAGCCCCTTTGACTTCG 0.468 NA HNSCC(10;0.0054) 34 107 1.414e-09 1.56151e-09 0.017118 1 0 TCP1 6950 broad.mit.edu 37 6 160206484 160206484 + Missense_Mutation SNP T T C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr6:160206484T>C uc003qsr.2 - 5 657 c.422A>G c.(421-423)GAT>GGT p.D141G TCP1_uc003qss.2_5'UTR|TCP1_uc010kjz.2_Missense_Mutation_p.D141G|TCP1_uc003qst.2_Intron NM_030752 NP_110379 P17987 TCPA_HUMAN T-complex protein 1 isoform a 141 'de novo' posttranslational protein folding|tubulin complex assembly cell junction|Golgi apparatus ATP binding|unfolded protein binding breast(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) TCCCAGTTCATCTGTGTTAAC 0.368 NA 46 123 0 0 0.01441 0 0 TCP10L2 401285 broad.mit.edu 37 6 167587449 167587449 + Missense_Mutation SNP A A G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr6:167587449A>G uc010kkp.2 + 3 484 c.353A>G c.(352-354)CAC>CGC p.H118R NM_001145121 NP_001138593 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 118 0 CGAGAATCACACACTCTGGTA 0.572 NA 12 50 0 0 0.017118 0 0 THBS2 7058 broad.mit.edu 37 6 169629774 169629774 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr6:169629774C>T uc003qwt.2 - 15 2400 c.2152G>A c.(2152-2154)GAT>AAT p.D718N NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 718 TSP type-3 1. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GGGCAGTTATCCTGCAATTGG 0.493 Esophageal Squamous(91;219 1934 18562 44706) NA 8 72 0 0 0.004482 0 0 SDK1 221935 broad.mit.edu 37 7 4116733 4116733 + Silent SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr7:4116733C>A uc003smx.2 + 21 3253 c.3114C>A c.(3112-3114)CTC>CTA p.L1038L SDK1_uc010kso.2_Silent_p.L314L NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1038 Fibronectin type-III 4. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TCTCATCTCTCACCACCTACA 0.567 NA 12 107 3.27435e-08 3.53953e-08 0.020292 1 0 SDK1 221935 broad.mit.edu 37 7 4198173 4198173 + Silent SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr7:4198173G>C uc003smx.2 + 31 4858 c.4719G>C c.(4717-4719)ACG>ACC p.T1573T SDK1_uc010kso.2_Silent_p.T849T|SDK1_uc003smy.2_Silent_p.T60T NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1573 cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CGGTGACCACGCTGCAGGATG 0.602 NA 20 94 0 0 0.008871 0 0 TWISTNB 221830 broad.mit.edu 37 7 19738310 19738310 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr7:19738310C>T uc003sup.1 - 4 667 c.646G>A c.(646-648)GAA>AAA p.E216K NM_001002926 NP_001002926 Q3B726 RPA43_HUMAN TWIST neighbor 216 microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity ovary(1) 1 GTGCCATTTTCTGTAACTTCT 0.333 NA 8 101 0 0 0.006214 0 0 TWISTNB 221830 broad.mit.edu 37 7 19739839 19739839 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr7:19739839G>C uc003sup.1 - 3 482 c.461C>G c.(460-462)TCC>TGC p.S154C NM_001002926 NP_001002926 Q3B726 RPA43_HUMAN TWIST neighbor 154 microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity ovary(1) 1 TTTAGGAATGGAGGCATTGAA 0.408 NA 39 245 0 0 0.011902 0 0 DNAH11 8701 broad.mit.edu 37 7 21630855 21630855 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr7:21630855C>T uc003svc.2 + 14 2358 c.2327C>T c.(2326-2328)ACG>ATG p.T776M NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 776 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CTCAAACAGACGCTCCTGGAA 0.448 NA Kartagener_syndrome 12 80 0 0 0.003163 0 0 HIBADH 11112 broad.mit.edu 37 7 27565834 27565834 + Nonstop_Mutation SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr7:27565834C>A uc003szf.2 - 8 1205 c.1010G>T c.(1009-1011)TGA>TTA p.*337L HIBADH_uc003szg.2_Nonstop_Mutation_p.*288L|HIBADH_uc003szh.2_Nonstop_Mutation_p.*236L NM_152740 NP_689953 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase precursor 337 branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process mitochondrial matrix 3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity ovary(2) 2 GBM - Glioblastoma multiforme(3;0.0368) NADH(DB00157) AGGGCACACTCAGAAGGTCTC 0.488 NA 20 48 6.44725e-10 7.1714e-10 0.014323 1 0 PCLO 27445 broad.mit.edu 37 7 82595703 82595703 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr7:82595703G>A uc003uhx.2 - 4 3690 c.3401C>T c.(3400-3402)GCA>GTA p.A1134V PCLO_uc003uhv.2_Missense_Mutation_p.A1134V NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1073 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CATAGGAGATGCTTTGGGTCC 0.423 NA 20 166 0 0 0.014323 0 0 LRRN3 54674 broad.mit.edu 37 7 110764566 110764566 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr7:110764566C>T uc003vft.3 + 4 2784 c.1738C>T c.(1738-1740)CTT>TTT p.L580F IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.L580F|LRRN3_uc003vfs.3_Missense_Mutation_p.L580F NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 580 Extracellular (Potential).|Fibronectin type-III. integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) GGTATATAATCTTACTCATCT 0.348 NA 6 77 0 0 0.001168 0 0 GPR85 54329 broad.mit.edu 37 7 112724255 112724255 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr7:112724255G>T uc010ljv.2 - 2 1039 c.522C>A c.(520-522)TTC>TTA p.F174L GPR85_uc003vgp.1_Missense_Mutation_p.F174L|GPR85_uc003vgq.2_Missense_Mutation_p.F174L|GPR85_uc010ljw.1_Missense_Mutation_p.F174L NM_001146266 NP_001139738 P60893 GPR85_HUMAN G protein-coupled receptor 85 174 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|central_nervous_system(1) 2 AGCGGTGTTGGAAGGTGCATT 0.478 NA 14 136 6.72482e-11 7.56235e-11 0.003163 1 0 FSCN3 29999 broad.mit.edu 37 7 127234028 127234028 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr7:127234028G>T uc003vmd.1 + 1 340 c.121G>T c.(121-123)GCG>TCG p.A41S FSCN3_uc003vmc.1_Intron|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.1_Missense_Mutation_p.A41S NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN fascin 3 41 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging ovary(1) 1 CACTGCAACTGCGAAGAGTTT 0.458 NA 6 18 0.00307968 0.00317269 0.00308 1 0 ZNF425 155054 broad.mit.edu 37 7 148801601 148801601 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr7:148801601C>T uc003wfj.2 - 4 1435 c.1362G>A c.(1360-1362)AGG>AGA p.R454R NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 454 C2H2-type 9. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GCATGGCGTTCCTCCAGAAGA 0.657 NA 4 32 0 0 0.009096 0 0 RHEB 6009 broad.mit.edu 37 7 151174480 151174480 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr7:151174480G>C uc003wkh.1 - 4 627 c.214C>G c.(214-216)CAG>GAG p.Q72E NM_005614 NP_005605 Q15382 RHEB_HUMAN Ras homolog enriched in brain precursor 72 cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|metal ion binding|protein binding large_intestine(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00306) UCEC - Uterine corpus endometrioid carcinoma (81;0.174) GAGTATGTCTGAGGAAAGATA 0.338 Pancreas(98;671 892 8111 15140 36556 39178 39939 44184) NA 5 151 0 0 0.001168 0 0 MLL3 58508 broad.mit.edu 37 7 151917783 151917783 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr7:151917783C>G uc003wla.2 - 23 3756 c.3537G>C c.(3535-3537)TTG>TTC p.L1179F MLL3_uc003wkz.2_Missense_Mutation_p.L240F NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1179 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) CTGATTCAGTCAAACACACAC 0.348 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 6 60 0 0 0.006214 0 0 PCM1 5108 broad.mit.edu 37 8 17813044 17813044 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr8:17813044C>T uc003wyi.3 + 10 1776 c.1354C>T c.(1354-1356)CCG>TCG p.P452S PCM1_uc011kyh.1_Missense_Mutation_p.P452S|PCM1_uc003wyj.3_Missense_Mutation_p.P452S|PCM1_uc003wyh.2_Missense_Mutation_p.P491S|PCM1_uc010lta.1_Missense_Mutation_p.P491S NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 452 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) AGGCTTGGCACCGGTTGTCAA 0.438 NA T RET|JAK2 papillary thyroid|CML|MPD 9 75 0 0 0.008291 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19363303 19363303 + Missense_Mutation SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr8:19363303C>A uc011kyn.1 - 4 1107 c.43G>T c.(43-45)GTG>TTG p.V15L CSGALNACT1_uc011kyo.1_Missense_Mutation_p.V15L|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.V14L|CSGALNACT1_uc003wzh.2_RNA NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate 15 Helical; Signal-anchor for type II membrane protein; (Potential). anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity central_nervous_system(2)|ovary(1) 3 Colorectal(111;0.182) AAAACCACCACCCGGGAAATC 0.617 NA 41 164 1.35964e-18 1.61786e-18 0.01441 1 0 ERLIN2 11160 broad.mit.edu 37 8 37607085 37607085 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr8:37607085G>C uc003xke.3 + 7 548 c.433G>C c.(433-435)GAT>CAT p.D145H LOC728024_uc010lvx.1_5'Flank NM_007175 NP_009106 O94905 ERLN2_HUMAN ER lipid raft associated 2 isoform 1 145 Lumenal (Potential). ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane protein binding 0 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) AGATCAGATTGATGAAAATCT 0.478 NA 16 96 0 0 0.007413 0 0 CHRNB3 1142 broad.mit.edu 37 8 42552716 42552716 + Silent SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr8:42552716C>A uc003xpi.1 + 1 155 c.27C>A c.(25-27)CTC>CTA p.L9L NM_000749 NP_000740 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 9 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1) 1 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) TGCTGGTTCTCATCGTCCTTG 0.413 NA 16 157 3.08376e-08 3.34528e-08 0.01892 1 0 HGSNAT 138050 broad.mit.edu 37 8 43016642 43016642 + Silent SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr8:43016642C>G uc003xpx.3 + 5 603 c.555C>G c.(553-555)CTC>CTG p.L185L NM_152419 NP_689632 Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 213 Cytoplasmic (Potential). lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity 0 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) TTCTGAGGCTCTTGTTGAGGT 0.438 NA 27 64 0 0 0.021022 0 0 TRPA1 8989 broad.mit.edu 37 8 72967797 72967797 + Missense_Mutation SNP T T A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr8:72967797T>A uc003xza.2 - 12 1578 c.1403A>T c.(1402-1404)GAC>GTC p.D468V NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 468 ANK 11.|Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) ATCACTTATGTCTTGTAGGAG 0.388 NA 56 206 0 0 0.01441 0 0 ZFHX4 79776 broad.mit.edu 37 8 77619868 77619868 + Nonsense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr8:77619868C>G uc003yav.2 + 3 2987 c.2600C>G c.(2599-2601)TCA>TGA p.S867* ZFHX4_uc003yat.1_Nonsense_Mutation_p.S867*|ZFHX4_uc003yau.1_Nonsense_Mutation_p.S893*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.S867* NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 867 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GGAGAGCTGTCACCTTATATC 0.502 NA HNSCC(33;0.089) 7 81 0 0 0.004482 0 0 TMEM67 91147 broad.mit.edu 37 8 94767165 94767165 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr8:94767165G>T uc011lgk.1 + 1 94 c.23G>T c.(22-24)GGG>GTG p.G8V TMEM67_uc010mau.2_Missense_Mutation_p.G8V|TMEM67_uc010mav.2_Missense_Mutation_p.G8V|TMEM67_uc010mat.1_Intron|TMEM67_uc010maw.2_Missense_Mutation_p.G8V|TMEM67_uc003yga.3_Intron NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN meckelin isoform 1 8 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding ovary(2) 2 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) GGTGGGGCTGGGGTGGCAATG 0.642 NA 16 74 2.49675e-24 3.06601e-24 0.007291 1 0 RIMS2 9699 broad.mit.edu 37 8 104922405 104922405 + Missense_Mutation SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr8:104922405C>A uc003yls.2 + 3 1243 c.1002C>A c.(1000-1002)AGC>AGA p.S334R RIMS2_uc003ylp.2_Missense_Mutation_p.S556R|RIMS2_uc003ylw.2_Missense_Mutation_p.S364R|RIMS2_uc003ylq.2_Missense_Mutation_p.S364R|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_5'Flank NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CTTGGCATAGCAGTGAGGCAT 0.403 NA HNSCC(12;0.0054) 65 231 7.427e-35 9.34462e-35 0.01441 1 0 KLHL38 340359 broad.mit.edu 37 8 124665152 124665152 + Silent SNP T T C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr8:124665152T>C uc003yqs.1 - 1 39 c.15A>G c.(13-15)TCA>TCG p.S5S NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN kelch-like 38 5 0 GCCCATCTAGTGACTCCTCGT 0.522 NA 42 221 0 0 0.01441 0 0 FAM91A1 157769 broad.mit.edu 37 8 124797966 124797966 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr8:124797966C>T uc003yqv.2 + 11 1008 c.947C>T c.(946-948)TCC>TTC p.S316F FAM91A1_uc011lik.1_Missense_Mutation_p.S316F|FAM91A1_uc011lil.1_Missense_Mutation_p.S74F NM_144963 NP_659400 Q658Y4 F91A1_HUMAN hypothetical protein LOC157769 316 ovary(1)|central_nervous_system(1) 2 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) AATGTTCCATCCGTAAACAGA 0.294 NA 7 115 0 0 0.00308 0 0 MTSS1 9788 broad.mit.edu 37 8 125580618 125580618 + Splice_Site SNP A A G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr8:125580618A>G uc003yrk.2 - 7 1152 c.618_splice c.e7+1 p.I206_splice NDUFB9_uc011lim.1_3'UTR|MTSS1_uc011lin.1_5'Flank|MTSS1_uc011lio.1_Intron|MTSS1_uc003yri.2_Splice_Site_p.I6_splice|MTSS1_uc003yrj.2_Splice_Site_p.I206_splice|MTSS1_uc003yrl.2_Splice_Site_p.I210_splice NM_014751 NP_055566 O43312 MTSS1_HUMAN metastasis suppressor 1 actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding ovary(1) 1 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CCATTAACTTACAATCACTGG 0.438 Esophageal Squamous(160;622 1893 3862 8546 12509) NA 52 187 0 0 0.01441 0 0 PHF20L1 51105 broad.mit.edu 37 8 133848837 133848837 + Silent SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr8:133848837G>A uc003ytt.2 + 16 2287 c.1962G>A c.(1960-1962)CTG>CTA p.L654L PHF20L1_uc011lja.1_Silent_p.L628L NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 654 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GTTTGCTTCTGAGTGGGGATG 0.343 NA 24 188 0 0 0.007291 0 0 PLEC 5339 broad.mit.edu 37 8 144994218 144994218 + Silent SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr8:144994218G>A uc003zaf.1 - 32 10352 c.10182C>T c.(10180-10182)ATC>ATT p.I3394I PLEC_uc003zab.1_Silent_p.I3257I|PLEC_uc003zac.1_Silent_p.I3261I|PLEC_uc003zad.2_Silent_p.I3257I|PLEC_uc003zae.1_Silent_p.I3225I|PLEC_uc003zag.1_Silent_p.I3235I|PLEC_uc003zah.2_Silent_p.I3243I|PLEC_uc003zaj.2_Silent_p.I3284I NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3394 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 ACTCAGAGCTGATGAGCTCCC 0.587 NA 11 36 0 0 0.016723 0 0 C8orf33 65265 broad.mit.edu 37 8 146278275 146278275 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr8:146278275G>A uc003zfc.3 + 2 364 c.310G>A c.(310-312)GAG>AAG p.E104K C8orf33_uc003zfd.2_RNA NM_023080 NP_075568 Q9H7E9 CH033_HUMAN hypothetical protein LOC65265 104 0 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.243) CCTAAGCGCTGAGGCCCAGGC 0.602 NA 4 11 0 0 0.009096 0 0 KIF27 55582 broad.mit.edu 37 9 86502017 86502017 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr9:86502017C>G uc004ana.2 - 9 2322 c.2178G>C c.(2176-2178)ATG>ATC p.M726I KIF27_uc010mpw.2_Missense_Mutation_p.M726I|KIF27_uc010mpx.2_Missense_Mutation_p.M726I NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 726 Potential. cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 TAAGTTCTCTCATTTTTTGTT 0.284 NA 6 42 0 0 0.001168 0 0 RNF20 56254 broad.mit.edu 37 9 104323505 104323505 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr9:104323505G>C uc004bbn.2 + 18 2732 c.2642G>C c.(2641-2643)CGA>CCA p.R881P NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN ring finger protein 20 881 Potential. histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1) 8 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) AATTTCAAACGAGCCCAGGTA 0.373 NA 122 300 0 0 0.01441 0 0 NTNG2 84628 broad.mit.edu 37 9 135073529 135073530 + Missense_Mutation DNP CG CG AA TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr9:135073529_135073530CG>AA uc004cbh.2 + 3 1166_1167 c.390_391CG>AA c.(388-393)ACCGTG>ACAATG p.V131M NM_032536 NP_115925 Q96CW9 NTNG2_HUMAN netrin G2 precursor 131 Laminin N-terminal. axonogenesis anchored to plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) GGAACAAGACCGTGGAGCTGAC 0.639 NA 6 29 0 0 0.004672 0 0 LCN12 286256 broad.mit.edu 37 9 139847406 139847406 + Silent SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr9:139847406G>A uc004ckb.2 + 2 189 c.177G>A c.(175-177)GCG>GCA p.A59A LCN12_uc004ckc.2_Silent_p.A59A NM_178536 NP_848631 Q6JVE5 LCN12_HUMAN lipocalcin 12 precursor 59 lipid metabolic process extracellular region binding|transporter activity 0 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) AGCACAGGGCGCTGCTGAACG 0.627 NA 7 53 0 0 0.006214 0 0 KAL1 3730 broad.mit.edu 37 X 8536381 8536381 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:8536381C>T uc004csf.2 - 8 1249 c.1099G>A c.(1099-1101)GAC>AAC p.D367N NM_000216 NP_000207 P23352 KALM_HUMAN Kallmann syndrome 1 protein precursor 367 Fibronectin type-III 2. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity ovary(3)|pancreas(1) 4 TAGTCACAGTCTGGCTGGAGT 0.443 NA 25 191 0 0 0.007291 0 0 TCEANC 170082 broad.mit.edu 37 X 13680667 13680667 + Missense_Mutation SNP A A G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:13680667A>G uc004cvk.2 + 2 270 c.40A>G c.(40-42)ATT>GTT p.I14V TCEANC_uc010nee.1_Missense_Mutation_p.I14V|TCEANC_uc010nef.1_Missense_Mutation_p.I14V|TCEANC_uc010neg.1_Missense_Mutation_p.I44V|TCEANC_uc004cvl.2_RNA NM_152634 NP_689847 Q8N8B7 TEANC_HUMAN TFIIS central domain-containing protein 1 14 TFIIS N-terminal. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding pancreas(1) 1 AGCTTCTCTTATTGAGCAACT 0.418 NA 32 244 0 0 0.00623 0 0 CDKL5 6792 broad.mit.edu 37 X 18606111 18606111 + Missense_Mutation SNP G G T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:18606111G>T uc004cym.2 + 9 845 c.592G>T c.(592-594)GGC>TGC p.G198C CDKL5_uc004cyn.2_Missense_Mutation_p.G198C NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 198 Protein kinase. neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) GTGGTCGGTGGGCTGTATTCT 0.408 NA 96 589 2.96273e-59 3.75851e-59 0.01441 1 0 MAP7D2 256714 broad.mit.edu 37 X 20043822 20043822 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:20043822C>T uc004czr.1 - 8 1152 c.1133G>A c.(1132-1134)GGA>GAA p.G378E MAP7D2_uc004czq.1_Missense_Mutation_p.G263E|MAP7D2_uc011mji.1_Missense_Mutation_p.G326E|MAP7D2_uc010nfo.1_Missense_Mutation_p.G419E|MAP7D2_uc011mjj.1_Missense_Mutation_p.G333E NM_152780 NP_689993 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 378 ovary(2)|breast(1) 3 GGCTTTCCCTCCTGCGGCAGC 0.582 NA 34 255 0 0 0.012213 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29414538 29414538 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:29414538G>C uc004dby.2 + 4 1034 c.526G>C c.(526-528)GAA>CAA p.E176Q NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 176 Ig-like C2-type 2.|Extracellular (Potential). innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 GCCAACCAGAGAACCTGAAAT 0.368 NA 32 135 0 0 0.00874 0 0 KDM5C 8242 broad.mit.edu 37 X 53245042 53245042 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:53245042G>C uc004drz.2 - 7 1431 c.898C>G c.(898-900)CAC>GAC p.H300D KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.H233D|KDM5C_uc004dsa.2_Missense_Mutation_p.H299D NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 300 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 TCTGGGCTGTGACTCAGCTCC 0.552 NA N|F|S clear cell renal carcinoma 34 139 0 0 0.021022 0 0 OPHN1 4983 broad.mit.edu 37 X 67518843 67518843 + Missense_Mutation SNP C C A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:67518843C>A uc004dww.3 - 3 544 c.250G>T c.(250-252)GCT>TCT p.A84S OPHN1_uc011mpg.1_Missense_Mutation_p.A84S|OPHN1_uc004dwx.2_Missense_Mutation_p.A84S NM_002547 NP_002538 O60890 OPHN1_HUMAN oligophrenin 1 84 axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(2) 2 GAAGACTTACCGATGTTAATT 0.413 NA 34 159 1.47197e-15 1.71172e-15 0.007835 1 0 P2RY4 5030 broad.mit.edu 37 X 69478529 69478529 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:69478529G>C uc004dxz.1 - 1 1126 c.946C>G c.(946-948)CAG>GAG p.Q316E NM_002565 NP_002556 P51582 P2RY4_HUMAN pyrimidinergic receptor P2Y4 316 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 TGACGGAGCTGACGTCGATAT 0.607 NA 11 63 0 0 0.010729 0 0 DACH2 117154 broad.mit.edu 37 X 86067861 86067861 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:86067861G>A uc004eew.2 + 8 1413 c.1243G>A c.(1243-1245)GAG>AAG p.E415K DACH2_uc004eex.2_Missense_Mutation_p.E402K|DACH2_uc010nmq.2_Missense_Mutation_p.E281K|DACH2_uc011mra.1_Missense_Mutation_p.E248K|DACH2_uc010nmr.2_Missense_Mutation_p.E196K|DACH2_uc004eey.2_Missense_Mutation_p.E98K|DACH2_uc004eez.2_Missense_Mutation_p.E98K NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 415 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 TTTTGCAGAAGAGGTACCAGT 0.408 NA 8 85 0 0 0.013537 0 0 CENPI 2491 broad.mit.edu 37 X 100382593 100382593 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:100382593C>T uc004egx.2 + 10 1283 c.1013C>T c.(1012-1014)TCA>TTA p.S338L CENPI_uc011mrg.1_Missense_Mutation_p.S338L|CENPI_uc004egy.2_Missense_Mutation_p.S338L NM_006733 NP_006724 Q92674 CENPI_HUMAN centromere protein I 338 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding skin(1) 1 AGAAGTGGATCATTTCCACTA 0.378 NA 31 150 0 0 0.010818 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450161 105450161 + Missense_Mutation SNP G G C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:105450161G>C uc004emf.1 + 4 1385 c.736G>C c.(736-738)GAT>CAT p.D246H MUM1L1_uc004emg.1_Missense_Mutation_p.D246H NM_152423 NP_689636 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 246 ovary(2)|pancreas(1)|skin(1) 4 TTTGTCATCAGATATGCTCAT 0.433 NA 12 104 0 0 0.013537 0 0 RIPPLY1 92129 broad.mit.edu 37 X 106144762 106144762 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:106144762C>G uc004emr.1 - 3 282 c.238G>C c.(238-240)GGT>CGT p.G80R MORC4_uc004emp.3_Intron|CLDN2_uc004emq.1_Intron|RIPPLY1_uc004ems.1_Intron NM_138382 NP_612391 Q0D2K3 RIPP1_HUMAN ripply1 homolog 80 negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent nucleus 0 GTTGCCCCACCAGCAGCCTGT 0.478 NA 32 464 0 0 0.013114 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995615 140995615 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:140995615C>G uc004fbt.2 + 4 2711 c.2425C>G c.(2425-2427)CCT>GCT p.P809A MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 809 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TGCCCAGTCTCCTCTCCAGAG 0.557 NA HNSCC(15;0.026) 91 234 0 0 0.01441 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905709 144905709 + Missense_Mutation SNP T T A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:144905709T>A uc004fcd.2 + 5 2756 c.1766T>A c.(1765-1767)GTC>GAC p.V589D SLITRK2_uc010nsp.2_Missense_Mutation_p.V589D|SLITRK2_uc010nso.2_Missense_Mutation_p.V589D|SLITRK2_uc011mwq.1_Missense_Mutation_p.V589D|SLITRK2_uc011mwr.1_Missense_Mutation_p.V589D|SLITRK2_uc011mws.1_Missense_Mutation_p.V589D|SLITRK2_uc004fcg.2_Missense_Mutation_p.V589D|SLITRK2_uc011mwt.1_Missense_Mutation_p.V589D NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 589 Extracellular (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) GATGGAACCGTCTTGTCAATG 0.468 NA 8 62 0 0 0.004482 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013937 149013937 + Silent SNP T T C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:149013937T>C uc004fdw.1 + 3 1106 c.891T>C c.(889-891)AAT>AAC p.N297N NM_005364 NP_005355 P43361 MAGA8_HUMAN melanoma antigen family A, 8 297 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) TCAGGGTCAATGCAAGAGTTC 0.567 NA 7 303 0 0 0.008291 0 0 PNCK 139728 broad.mit.edu 37 X 152937028 152937028 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:152937028C>T uc011myu.1 - 6 949 c.763G>A c.(763-765)GCC>ACC p.A255T PNCK_uc011myt.1_Missense_Mutation_p.A189T|PNCK_uc004fia.2_Missense_Mutation_p.A184T|PNCK_uc004fhz.3_Missense_Mutation_p.A70T|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.A199T|PNCK_uc011myw.1_Missense_Mutation_p.A199T NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN pregnancy upregulated non-ubiquitously expressed 172 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTCCCACAGGCGGTGCCTAGC 0.602 NA 11 61 0 0 0.003163 0 0 KCNQ4 9132 broad.mit.edu 37 1 41289922 41289923 + Frame_Shift_Ins INS - - G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:41289922_41289923insG uc001cgh.1 + 9 1366_1367 c.1284_1285insG c.(1282-1287)CCTGGGfs p.P428fs KCNQ4_uc001cgi.1_Intron NM_004700 NP_004691 P56696 KCNQ4_HUMAN potassium voltage-gated channel KQT-like protein 428_429 Cytoplasmic. 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) CCTTCTGCCCTGGGGAAAGGTA 0.678 NA 2 4 --- --- --- --- NA NA NA NA NA GON4L 54856 broad.mit.edu 37 1 155734980 155734981 + Frame_Shift_Ins INS - - G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:155734980_155734981insG uc001flz.2 - 21 4380_4381 c.4283_4284insC c.(4282-4284)CCAfs p.P1428fs GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Frame_Shift_Ins_p.P1428fs|GON4L_uc009wrh.1_Frame_Shift_Ins_p.P1428fs|GON4L_uc001fma.1_Frame_Shift_Ins_p.P1428fs|GON4L_uc001fmb.3_Frame_Shift_Ins_p.P624fs|GON4L_uc001fmc.2_Frame_Shift_Ins_p.P1428fs|GON4L_uc001fmd.3_Frame_Shift_Ins_p.P1428fs|GON4L_uc009wri.2_Frame_Shift_Ins_p.P1014fs NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 1428 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) CTGGCTTCCCTGGGGGGCTACT 0.515 NA 7 251 --- --- --- --- NA NA NA NA NA C1orf49 84066 broad.mit.edu 37 1 178489899 178489899 + Frame_Shift_Del DEL G G - TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr1:178489899delG uc001glt.1 + 7 545 c.433delG c.(433-435)GGAfs p.G145fs C1orf49_uc001glu.1_Frame_Shift_Del_p.G145fs|C1orf49_uc001glv.1_RNA|C1orf49_uc001glw.1_Frame_Shift_Del_p.G153fs NM_032126 NP_115502 Q5T0J7 CA049_HUMAN hypothetical protein LOC84066 145 microtubule cytoskeleton 0 GAAAATGGATGGAGCCAGTGG 0.532 NA 45 321 --- --- --- --- NA NA NA NA NA C10orf47 254427 broad.mit.edu 37 10 11911725 11911726 + Frame_Shift_Ins INS - - A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr10:11911725_11911726insA uc001ikx.2 + 4 782_783 c.628_629insA c.(628-630)GCCfs p.A210fs uc001iky.1_Intron NM_153256 NP_694988 Q86WR7 CJ047_HUMAN hypothetical protein LOC254427 210 Pro-rich. central_nervous_system(1) 1 GGGGAACGAAGCCCTCTCGCCC 0.738 NA 3 5 --- --- --- --- NA NA NA NA NA GDF2 2658 broad.mit.edu 37 10 48414131 48414131 + Frame_Shift_Del DEL G G - TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr10:48414131delG uc001jfa.1 - 2 900 c.737delC c.(736-738)CCAfs p.P246fs NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 246 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 TCTGGAACCTGGGGGGACACT 0.567 NA 7 26 --- --- --- --- NA NA NA NA NA SLCO1C1 53919 broad.mit.edu 37 12 20874949 20874949 + Frame_Shift_Del DEL G G - TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:20874949delG uc001rej.3 + 9 1342 c.987delG c.(985-987)CAGfs p.Q329fs SLCO1C1_uc010sii.1_Frame_Shift_Del_p.Q329fs|SLCO1C1_uc010sij.1_Frame_Shift_Del_p.Q280fs|SLCO1C1_uc009zip.2_Frame_Shift_Del_p.Q163fs|SLCO1C1_uc001rei.2_Frame_Shift_Del_p.Q329fs|SLCO1C1_uc010sik.1_Frame_Shift_Del_p.Q211fs NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 329 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) AAACACCCCAGGGAGAAAATG 0.299 NA 34 46 --- --- --- --- NA NA NA NA NA MYL2 4633 broad.mit.edu 37 12 111348950 111348951 + Frame_Shift_Ins INS - - G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:111348950_111348951insG uc001try.3 - 7 502_503 c.431_432insC c.(430-432)CCTfs p.P144fs MYL2_uc001trx.3_Frame_Shift_Ins_p.P125fs NM_000432 NP_000423 P10916 MLRV_HUMAN slow cardiac myosin regulatory light chain 2 144 EF-hand 3. cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle ovary(1) 1 CAGTCACGTCAGGGGGGAAGGC 0.624 GBM(14;268 426 18829 21617 25540) NA 7 643 --- --- --- --- NA NA NA NA NA KIAA0564 23078 broad.mit.edu 37 13 42407556 42407560 + Frame_Shift_Del DEL GCAGG GCAGG - TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 GCAGG GCAGG - - GCAGG GCAGG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr13:42407556_42407560delGCAGG uc001uyj.2 - 13 1603_1607 c.1533_1537delCCTGC c.(1531-1539)GTCCTGCTGfs p.V511fs KIAA0564_uc001uyk.2_Frame_Shift_Del_p.V511fs NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 511_513 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) ATGCCATCCAGCAGGACCAGCTTGC 0.546 NA 10 259 --- --- --- --- NA NA NA NA NA C14orf180 400258 broad.mit.edu 37 14 105054102 105054103 + Frame_Shift_Ins INS - - C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr14:105054102_105054103insC uc001yow.1 + 3 429_430 c.128_129insC c.(127-129)TGCfs p.C43fs C14orf180_uc010tyh.1_Frame_Shift_Ins_p.C43fs|C14orf180_uc010awy.1_Frame_Shift_Ins_p.C43fs NM_001008404 NP_001008404 Q8N912 CN180_HUMAN hypothetical protein LOC400258 43 integral to membrane 0 Melanoma(154;0.226) all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.127) AACAGGAAGTGCCCCCCCTCCA 0.703 NA 2 4 --- --- --- --- NA NA NA NA NA TP53 7157 broad.mit.edu 37 17 7579536 7579545 + Frame_Shift_Del DEL CAATATCGTC CAATATCGTC - TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 CAATATCGTC CAATATCGTC - - CAATATCGTC CAATATCGTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr17:7579536_7579545delCAATATCGTC uc002gim.2 - 4 336_345 c.142_151delGACGATATTG c.(142-153)GACGATATTGAAfs p.D48fs TP53_uc002gig.1_Frame_Shift_Del_p.D48fs|TP53_uc002gih.2_Frame_Shift_Del_p.D48fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.D48fs|TP53_uc010cni.1_Frame_Shift_Del_p.D48fs|TP53_uc002gij.2_Frame_Shift_Del_p.D48fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.D9fs|TP53_uc010cnk.1_Frame_Shift_Del_p.D63fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 48_51 TADII.|Interaction with HRMT1L2. 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.0?(7)|p.E51*(6)|p.D49H(4)|p.D49Y(2)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.I50fs*1(1)|p.E51fs*72(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D48D(1)|p.S46_D49delSPDD(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) AACCATTGTTCAATATCGTCCGGGGACAGC 0.543 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 91 1353 --- --- --- --- NA NA NA NA NA STXBP4 252983 broad.mit.edu 37 17 53155556 53155559 + Splice_Site DEL GTAA GTAA - TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 GTAA GTAA - - GTAA GTAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr17:53155556_53155559delGTAA uc002iuf.1 + 14 1512 c.1305_splice c.e14+1 p.E435_splice STXBP4_uc010dcd.1_Splice_Site_p.E413_splice NM_178509 NP_848604 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 cytoplasm calcium ion binding ovary(1) 1 TTTTGTAGAGGTAAGTTTTTCTGT 0.328 NA 9 53 --- --- --- --- NA NA NA NA NA CHERP 10523 broad.mit.edu 37 19 16646370 16646371 + Frame_Shift_Ins INS - - G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr19:16646370_16646371insG uc002nei.1 - 3 350_351 c.276_277insC c.(274-279)CCCGCCfs p.P92fs MED26_uc002nee.2_Intron|CHERP_uc002nej.2_Frame_Shift_Ins_p.P60fs NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 92_93 cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 ATGGGCGCGGCGGGGGCCAGCG 0.713 NA 2 4 --- --- --- --- NA NA NA NA NA SLC15A2 6565 broad.mit.edu 37 3 121648154 121648154 + Frame_Shift_Del DEL G G - TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr3:121648154delG uc003eep.2 + 17 1665 c.1512delG c.(1510-1512)AAGfs p.K504fs SLC15A2_uc011bjn.1_Frame_Shift_Del_p.K473fs NM_021082 NP_066568 Q16348 S15A2_HUMAN peptide transporter 2 isoform a 504 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) TGTAGGTAAAGGATACAGAAA 0.388 NA 43 604 --- --- --- --- NA NA NA NA NA PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 TGG TGG - - TGG TGG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr3:169896635_169896637delTGG uc010hws.1 - 2 132_134 c.68_70delCCA c.(67-72)ACCATC>ATC p.T23del PHC3_uc003fgl.2_In_Frame_Del_p.T35del|PHC3_uc011bpq.1_In_Frame_Del_p.T35del|PHC3_uc011bpr.1_In_Frame_Del_p.T35del|PHC3_uc003fgm.2_In_Frame_Del_p.T35del|PHC3_uc003fgo.1_In_Frame_Del_p.T23del|PHC3_uc003fgp.3_In_Frame_Del_p.T35del|PHC3_uc003fgq.3_In_Frame_Del_p.T35del|PHC3_uc003fgr.1_RNA NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN polyhomeotic like 3 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.424 NA 8 1367 --- --- --- --- NA NA NA NA NA FNDC3B 64778 broad.mit.edu 37 3 172096209 172096210 + Frame_Shift_Ins INS - - C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr3:172096209_172096210insC uc003fhy.2 + 24 3330_3331 c.3158_3159insC c.(3157-3159)GTCfs p.V1053fs FNDC3B_uc003fhz.3_Frame_Shift_Ins_p.V1053fs NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 1053 endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) ACCAAAAGTGTCCCCCCCACCA 0.47 NA 7 222 --- --- --- --- NA NA NA NA NA TNFSF10 8743 broad.mit.edu 37 3 172241148 172241149 + Frame_Shift_Ins INS - - C rs138912628 TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr3:172241148_172241149insC uc003fid.2 - 1 121_122 c.26_27insG c.(25-27)GGAfs p.G9fs TNFSF10_uc003fie.2_Frame_Shift_Ins_p.G9fs|TNFSF10_uc010hwu.1_RNA NM_003810 NP_003801 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, 9 Cytoplasmic (Potential). activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding skin(4)|lung(1) 5 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CCAGGCTGGGTCCCCCCTGGAC 0.535 NA 7 797 --- --- --- --- NA NA NA NA NA SEMA6A 57556 broad.mit.edu 37 5 115782764 115782765 + Frame_Shift_Ins INS - - G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr5:115782764_115782765insG uc010jck.2 - 19 3346_3347 c.2637_2638insC c.(2635-2640)CCCAAAfs p.P879fs SEMA6A_uc003krx.3_Frame_Shift_Ins_p.P896fs|SEMA6A_uc011cwe.1_Frame_Shift_Ins_p.P258fs|SEMA6A_uc003krv.3_Frame_Shift_Ins_p.P306fs|SEMA6A_uc003krw.3_Frame_Shift_Ins_p.P356fs|SEMA6A_uc010jcj.2_Frame_Shift_Ins_p.P423fs NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and 879_880 Cytoplasmic (Potential). apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity ovary(2) 2 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) TGTGGAACTTTGGGGGGCAGGC 0.604 NA 9 311 --- --- --- --- NA NA NA NA NA IK 3550 broad.mit.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr5:140032593_140032594delGA uc003lgq.2 + 5 378_379 c.268_269delGA c.(268-270)GAGfs p.E90fs IK_uc011czk.1_Frame_Shift_Del_p.E90fs NM_006083 NP_006074 Q13123 RED_HUMAN RED protein 90 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAGAAATTGAGAGAGAGAGA 0.46 NA 7 219 --- --- --- --- NA NA NA NA NA BTN2A3 54718 broad.mit.edu 37 6 26426748 26426748 + Frame_Shift_Del DEL C C - TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr6:26426748delC uc011dkl.1 + 3 733 c.703delC c.(703-705)CCAfs p.P235fs BTN2A3_uc011dkm.1_RNA RecName: Full=Butyrophilin subfamily 2 member A3; Flags: Precursor; 0 CATTTTTATTCCAGGTTAGTT 0.527 NA 78 365 --- --- --- --- NA NA NA NA NA TRRAP 8295 broad.mit.edu 37 7 98548545 98548546 + Frame_Shift_Ins INS - - G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr7:98548545_98548546insG uc003upp.2 + 38 5569_5570 c.5360_5361insG c.(5359-5361)AAGfs p.K1787fs TRRAP_uc011kis.1_Frame_Shift_Ins_p.K1769fs|TRRAP_uc003upr.2_Frame_Shift_Ins_p.K1486fs NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1787 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGCTTTGAGAAGGGGGAAGGAG 0.411 NA 7 821 --- --- --- --- NA NA NA NA NA EPHB6 2051 broad.mit.edu 37 7 142562397 142562398 + Frame_Shift_Ins INS - - C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr7:142562397_142562398insC uc011kst.1 + 7 1626_1627 c.839_840insC c.(838-840)AGCfs p.S280fs EPHB6_uc011ksu.1_Frame_Shift_Ins_p.S280fs|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR|EPHB6_uc003wbv.2_5'Flank NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 280 Extracellular (Potential).|Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) GCAGGAGGCAGCCCCCCCAGGC 0.688 NA 7 60 --- --- --- --- NA NA NA NA NA FRMPD4 9758 broad.mit.edu 37 X 12734936 12734937 + Frame_Shift_Ins INS - - C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:12734936_12734937insC uc004cuz.1 + 15 2864_2865 c.2358_2359insC c.(2356-2361)CTGCCCfs p.L786fs FRMPD4_uc011mij.1_Frame_Shift_Ins_p.L778fs NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 786_787 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 TCACATCCCTGCCCCCTCCAGA 0.564 NA 7 834 --- --- --- --- NA NA NA NA NA DLG3 1741 broad.mit.edu 37 X 69665334 69665335 + Frame_Shift_Ins INS - - C TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:69665334_69665335insC uc004dyi.1 + 1 611_612 c.283_284insC c.(283-285)ACCfs p.T95fs NM_021120 NP_066943 Q92796 DLG3_HUMAN synapse-associated protein 102 isoform a 95 axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity large_intestine(1)|pancreas(1) 2 Renal(35;0.156) GGGCAAGAGCACCCCCAAACTC 0.698 NA 2 4 --- --- --- --- NA NA NA NA NA XPNPEP2 7512 broad.mit.edu 37 X 128890517 128890518 + Frame_Shift_Ins INS - - G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chrX:128890517_128890518insG uc004eut.1 + 14 1597_1598 c.1353_1354insG c.(1351-1356)TCTGGGfs p.S451fs NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 451_452 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 TGCTGGACTCTGGGGGGCAGTA 0.545 NA 8 165 --- --- --- --- NA NA NA NA NA KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 559017d8-4b22-4313-abdd-d3526c889d7f 1da1a9f9-7411-4230-b1ff-3e46a7b88efc g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 36 NA NA NA NA 1 1 0.004482 1 1