Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values HSPG2 3339 broad.mit.edu 37 1 22165524 22165524 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:22165524G>A uc001bfj.2 - 74 9984 c.9944C>T c.(9943-9945)ACG>ATG p.T3315M HSPG2_uc009vqd.2_Missense_Mutation_p.T3316M NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 3315 Ig-like C2-type 19. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GAGCTGCACCGTCTCCCCTGC 0.672 EIF3I 8668 broad.mit.edu 37 1 32689716 32689716 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:32689716G>A uc001bur.3 + 4 711 c.178G>A c.(178-180)GCT>ACT p.A60T C1orf91_uc001buo.3_5'Flank|C1orf91_uc001bup.3_5'Flank|C1orf91_uc009vub.1_5'Flank|C1orf91_uc010oha.1_5'Flank|C1orf91_uc001buq.3_5'Flank|EIF3I_uc009vuc.2_Missense_Mutation_p.A60T|EIF3I_uc001bus.2_Missense_Mutation_p.A12T NM_003757 NP_003748 Q13347 EIF3I_HUMAN eukaryotic translation initiation factor 3, 60 WD 2. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) GTGTGTGGACGCTGACTGTAT 0.537 CSMD2 114784 broad.mit.edu 37 1 34158580 34158580 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:34158580G>T uc001bxn.1 - 25 3911 c.3882C>A c.(3880-3882)CAC>CAA p.H1294Q CSMD2_uc001bxm.1_Missense_Mutation_p.H1334Q|CSMD2_uc001bxo.1_Missense_Mutation_p.H207Q NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1294 CUB 8.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGTTGAGATTGTGTTCATAGG 0.552 PDE4B 5142 broad.mit.edu 37 1 66827323 66827323 + Silent SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:66827323A>C uc001dcn.2 + 10 1058 c.867A>C c.(865-867)CCA>CCC p.P289P PDE4B_uc009war.2_Silent_p.P197P|PDE4B_uc001dco.2_Silent_p.P289P|PDE4B_uc001dcp.2_Silent_p.P274P|PDE4B_uc001dcq.2_Silent_p.P117P|PDE4B_uc009was.2_Silent_p.P56P NM_001037341 NP_001032418 Q07343 PDE4B_HUMAN phosphodiesterase 4B isoform 1 289 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) TGGAGATCCCATCTCCTACCC 0.393 LRRC7 57554 broad.mit.edu 37 1 70488966 70488966 + Missense_Mutation SNP G G C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:70488966G>C uc001dep.2 + 15 1619 c.1589G>C c.(1588-1590)TGT>TCT p.C530S LRRC7_uc009wbg.2_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 530 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GCATGGGGTTGTATAAGTGGC 0.557 IFI44L 10964 broad.mit.edu 37 1 79093853 79093853 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:79093853T>C uc010oro.1 + 2 432 c.253T>C c.(253-255)TTT>CTT p.F85L IFI44L_uc010orp.1_Intron|IFI44L_uc010orq.1_Intron NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 85 cytoplasm 0 TTCCCTATGGTTTTCACTTCA 0.313 BARHL2 343472 broad.mit.edu 37 1 91180275 91180275 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:91180275G>A uc001dns.2 - 2 706 c.664C>T c.(664-666)CGT>TGT p.R222C NM_020063 NP_064447 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 222 nucleus sequence-specific DNA binding ovary(1) 1 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) GGACTCTCACGGCTACTCGTA 0.542 GFI1 2672 broad.mit.edu 37 1 92946367 92946367 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:92946367C>T uc001dou.3 - 4 741 c.577G>A c.(577-579)GCT>ACT p.A193T GFI1_uc001dov.3_Missense_Mutation_p.A193T|GFI1_uc001dow.3_Missense_Mutation_p.A193T NM_001127215 NP_001120687 Q99684 GFI1_HUMAN growth factor independent 1 193 Ala/Gly-rich. negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(1) 1 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) CCAGGGCCAGCGGTGGCACCG 0.652 AMY2B 280 broad.mit.edu 37 1 104122108 104122108 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:104122108G>A uc001duq.2 + 12 2138 c.1522G>A c.(1522-1524)GAA>AAA p.E508K AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.E508K|AMY2B_uc001dus.1_Intron NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 508 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) AATTCATGCTGAATCtaaatt 0.294 CA14 23632 broad.mit.edu 37 1 150230572 150230572 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:150230572G>A uc001etx.2 + 1 358 c.49G>A c.(49-51)GAT>AAT p.D17N CA14_uc009wln.2_Missense_Mutation_p.D17N NM_012113 NP_036245 Q9ULX7 CAH14_HUMAN carbonic anhydrase XIV precursor 17 Extracellular (Potential). integral to membrane carbonate dehydratase activity|metal ion binding ovary(1) 1 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CCTGGCTGCAGATGGGGGTAG 0.532 FLG 2312 broad.mit.edu 37 1 152277297 152277297 + Silent SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:152277297C>A uc001ezu.1 - 3 10101 c.10065G>T c.(10063-10065)GTG>GTT p.V3355V NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3355 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGGCCTGACACTGACTGTG 0.572 Ichthyosis OR6K3 391114 broad.mit.edu 37 1 158687131 158687131 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:158687131A>C uc010pip.1 - 1 823 c.823T>G c.(823-825)TTG>GTG p.L275V NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 275 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) CTGAAACGCAAGTACATGAGT 0.463 FCER1A 2205 broad.mit.edu 37 1 159272174 159272174 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:159272174C>T uc001ftq.2 + 2 119 c.20C>T c.(19-21)TCC>TTC p.S7F NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 7 integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) GCCATGGAATCCCCTACTCTA 0.483 C1orf129 80133 broad.mit.edu 37 1 170965696 170965696 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:170965696A>C uc001ghg.2 + 14 1516 c.1386A>C c.(1384-1386)CAA>CAC p.Q462H C1orf129_uc009wvy.2_Missense_Mutation_p.Q269H|C1orf129_uc010plz.1_Missense_Mutation_p.Q462H NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 462 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTGGACTGCAACAGGTGGATA 0.423 DNM3 26052 broad.mit.edu 37 1 171810859 171810859 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:171810859G>A uc001gie.2 + 1 239 c.63G>A c.(61-63)TCG>TCA p.S21S DNM3_uc001gid.3_Silent_p.S21S|DNM3_uc009wwb.2_Silent_p.S21S|DNM3_uc001gif.2_Silent_p.S21S NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 21 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 ACGCGTTTTCGGCGCTGGGAC 0.687 CFH 3075 broad.mit.edu 37 1 196716354 196716354 + Missense_Mutation SNP C C T rs145347741 byFrequency TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:196716354C>T uc001gtj.3 + 22 3847 c.3607C>T c.(3607-3609)CGG>TGG p.R1203W NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 1203 Sushi 20. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 TGTGTGTAAACGGGGATATCG 0.383 WNT3A 89780 broad.mit.edu 37 1 228246694 228246694 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:228246694C>T uc001hrq.1 + 4 665 c.587C>T c.(586-588)GCC>GTC p.A196V WNT3A_uc001hrp.1_Missense_Mutation_p.A196V NM_033131 NP_149122 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, 196 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity ovary(1) 1 Prostate(94;0.0405) CAGGCCATCGCCAGCCACATG 0.667 OR2W5 441932 broad.mit.edu 37 1 247654765 247654765 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:247654765C>T uc001icz.1 + 1 336 c.336C>T c.(334-336)TGC>TGT p.C112C NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 112 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CCACCGAGTGCGTCCTCCTGG 0.602 OR2T12 127064 broad.mit.edu 37 1 248458139 248458139 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr1:248458139G>T uc010pzj.1 - 1 742 c.742C>A c.(742-744)CTC>ATC p.L248I NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 248 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 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;0.0201) CCATAAAAGAGTCCCACCACA 0.507 DIP2C 22982 broad.mit.edu 37 10 428632 428632 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr10:428632C>T uc001ifp.2 - 17 2036 c.1946G>A c.(1945-1947)TGT>TAT p.C649Y DIP2C_uc009xhj.1_Missense_Mutation_p.C345Y NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 649 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GGCACAAGGACAGATGACCTC 0.488 ITIH5 80760 broad.mit.edu 37 10 7679382 7679382 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr10:7679382G>A uc001ijq.2 - 5 540 c.461C>T c.(460-462)GCC>GTC p.A154V ITIH5_uc001ijr.1_Missense_Mutation_p.A154V NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 154 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 CAGGAAAAAGGCGGCTTTGTC 0.567 MAP3K8 1326 broad.mit.edu 37 10 30749642 30749642 + Silent SNP G G A rs150841663 TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr10:30749642G>A uc001ivi.1 + 9 1977 c.1281G>A c.(1279-1281)TCG>TCA p.S427S MAP3K8_uc009xlf.1_Silent_p.S427S|MAP3K8_uc001ivj.1_Silent_p.S427S NM_005204 NP_005195 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 427 Missing (in oncogenic form). cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(3)|central_nervous_system(1) 4 Prostate(175;0.151) CAGATTCTTCGTGCACAGGAA 0.453 PCDH15 65217 broad.mit.edu 37 10 55955568 55955568 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr10:55955568A>G uc001jju.1 - 11 1575 c.1180T>C c.(1180-1182)TAT>CAT p.Y394H PCDH15_uc010qhq.1_Missense_Mutation_p.Y399H|PCDH15_uc010qhr.1_Missense_Mutation_p.Y394H|PCDH15_uc010qhs.1_Missense_Mutation_p.Y399H|PCDH15_uc010qht.1_Missense_Mutation_p.Y394H|PCDH15_uc010qhu.1_Missense_Mutation_p.Y394H|PCDH15_uc001jjv.1_Missense_Mutation_p.Y372H|PCDH15_uc010qhv.1_Missense_Mutation_p.Y394H|PCDH15_uc010qhw.1_Missense_Mutation_p.Y357H|PCDH15_uc010qhx.1_Missense_Mutation_p.Y394H|PCDH15_uc010qhy.1_Missense_Mutation_p.Y399H|PCDH15_uc010qhz.1_Missense_Mutation_p.Y394H|PCDH15_uc010qia.1_Missense_Mutation_p.Y372H|PCDH15_uc010qib.1_Missense_Mutation_p.Y372H|PCDH15_uc001jjw.2_Missense_Mutation_p.Y394H NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 394 Cadherin 3.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ATTGTAAAATATGGACTTTGA 0.403 HNSCC(58;0.16) TET1 80312 broad.mit.edu 37 10 70450715 70450715 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr10:70450715C>T uc001jok.3 + 12 6060 c.5555C>T c.(5554-5556)CCG>CTG p.P1852L NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1852 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TCCTGGTCCCCGAAGACTGCT 0.502 CRTAC1 55118 broad.mit.edu 37 10 99770980 99770980 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr10:99770980A>G uc001kou.1 - 2 495 c.139T>C c.(139-141)TAT>CAT p.Y47H CRTAC1_uc001kov.2_Missense_Mutation_p.Y36H NM_018058 NP_060528 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 precursor 47 FG-GAP 1; atypical. proteinaceous extracellular matrix calcium ion binding ovary(4)|pancreas(1) 5 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) TTACTGTCATAGTCAGGAGGC 0.562 NOLC1 9221 broad.mit.edu 37 10 103919306 103919306 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr10:103919306A>C uc001kuo.2 + 7 1075 c.840A>C c.(838-840)AAA>AAC p.K280N NOLC1_uc001kup.2_Missense_Mutation_p.K290N|NOLC1_uc001kuq.2_Missense_Mutation_p.K281N|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR NM_004741 NP_004732 Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 280 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) AGCAAAAAAAACCCATGAAAA 0.323 C10orf96 374355 broad.mit.edu 37 10 118084562 118084562 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr10:118084562C>T uc001lck.2 + 2 290 c.39C>T c.(37-39)ACC>ACT p.T13T NM_198515 NP_940917 P0C7W6 CJ096_HUMAN hypothetical protein LOC374355 13 Potential. ovary(2) 2 Lung NSC(174;0.204)|all_lung(145;0.248) all cancers(201;0.014) TCATCTTCACCGAGCATCAGG 0.522 TH 7054 broad.mit.edu 37 11 2185600 2185600 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr11:2185600G>A uc001lvq.2 - 14 1469 c.1450C>T c.(1450-1452)CGC>TGC p.R484C TH_uc001lvp.2_Missense_Mutation_p.R480C|TH_uc001lvr.2_Missense_Mutation_p.R453C|TH_uc010qxj.1_Missense_Mutation_p.R457C|TH_uc001lvs.2_Missense_Mutation_p.R359C|TH_uc001lvt.2_Missense_Mutation_p.R363C NM_199292 NP_954986 P07101 TY3H_HUMAN tyrosine hydroxylase isoform a 484 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity 0 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) GAGAAGGGGCGCTGGATGCGT 0.687 UBQLN3 50613 broad.mit.edu 37 11 5530452 5530452 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr11:5530452T>C uc001may.1 - 2 423 c.337A>G c.(337-339)AGT>GGT p.S113G HBG2_uc001mak.1_Intron NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 113 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATCCAGGACTTGGGCCCTGG 0.612 UBQLNL 143630 broad.mit.edu 37 11 5537480 5537480 + Silent SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr11:5537480T>C uc001maz.3 - 1 477 c.192A>G c.(190-192)CAA>CAG p.Q64Q HBG2_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN ubiquilin-like 64 Ubiquitin-like. large_intestine(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) CCATCTGGCATTGGAAGTGAG 0.498 ANO3 63982 broad.mit.edu 37 11 26581277 26581277 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr11:26581277G>A uc001mqt.3 + 14 1543 c.1398G>A c.(1396-1398)TTG>TTA p.L466L ANO3_uc010rdr.1_Silent_p.L450L|ANO3_uc010rds.1_Silent_p.L305L|ANO3_uc010rdt.1_Silent_p.L320L|MUC15_uc001mqw.2_3'UTR|MUC15_uc001mqx.2_3'UTR|MUC15_uc001mqy.2_3'UTR NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 466 Extracellular (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TGACATATTTGTTCGATAATG 0.328 OR4C16 219428 broad.mit.edu 37 11 55340006 55340006 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr11:55340006A>C uc010rih.1 + 1 403 c.403A>C c.(403-405)AGC>CGC p.S135R NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 135 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) GACCATCATAAGCCAGTGGGT 0.507 OR4P4 81300 broad.mit.edu 37 11 55406228 55406228 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr11:55406228T>G uc010rij.1 + 1 395 c.395T>G c.(394-396)ATT>AGT p.I132S NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 132 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 CACTACACCATTATTATGAGC 0.433 OR5T2 219464 broad.mit.edu 37 11 55999981 55999981 + Silent SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr11:55999981A>C uc010rjc.1 - 1 681 c.681T>G c.(679-681)TCT>TCG p.S227S NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 227 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TGTCAGAATAAGAAATAGCAA 0.423 MS4A14 84689 broad.mit.edu 37 11 60184378 60184378 + Missense_Mutation SNP C C A rs145801550 TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr11:60184378C>A uc001npj.2 + 5 2502 c.1937C>A c.(1936-1938)TCC>TAC p.S646Y MS4A14_uc001npi.2_Missense_Mutation_p.S534Y|MS4A14_uc001npn.2_Missense_Mutation_p.S384Y|MS4A14_uc001npk.2_Missense_Mutation_p.S629Y|MS4A14_uc001npl.2_Missense_Mutation_p.S384Y|MS4A14_uc001npm.2_Missense_Mutation_p.S384Y NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 646 Gln-rich. integral to membrane receptor activity breast(1) 1 GATTCAGAATCCCAAATACAG 0.463 DDB1 1642 broad.mit.edu 37 11 61079287 61079287 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr11:61079287G>A uc001nrc.3 - 18 2472 c.2246C>T c.(2245-2247)ACG>ATG p.T749M DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.T749M NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 749 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 CAAGGCTGTCGTGCCCCCACT 0.463 NER PCNXL3 399909 broad.mit.edu 37 11 65387389 65387389 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr11:65387389T>G uc001oey.2 + 8 1994 c.1994T>G c.(1993-1995)TTC>TGC p.F665C NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 665 integral to membrane 0 GTGCACTATTTCTACGATGAG 0.617 P2RY6 5031 broad.mit.edu 37 11 73008084 73008084 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr11:73008084G>A uc001otm.2 + 4 926 c.521G>A c.(520-522)CGC>CAC p.R174H P2RY6_uc001otn.2_Missense_Mutation_p.R174H|P2RY6_uc001oto.2_Missense_Mutation_p.R174H|P2RY6_uc001otp.2_Missense_Mutation_p.R174H|P2RY6_uc001otq.2_Missense_Mutation_p.R174H|P2RY6_uc001otr.2_Missense_Mutation_p.R174H|P2RY6_uc001ots.2_Missense_Mutation_p.R174H NM_176796 NP_789766 Q15077 P2RY6_HUMAN pyrimidinergic receptor P2Y6 174 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 CAGCGTAACCGCACTGTCTGC 0.637 FUT4 2526 broad.mit.edu 37 11 94278700 94278700 + Silent SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr11:94278700C>A uc001pez.2 + 1 1684 c.1401C>A c.(1399-1401)TCC>TCA p.S467S PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.1_5'Flank NM_002033 NP_002024 P22083 FUT4_HUMAN fucosyltransferase 4 467 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction alpha(1,3)-fucosyltransferase activity skin(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GTGCCTCCTCCCTGGCCTCGT 0.667 PGR 5241 broad.mit.edu 37 11 100933339 100933339 + Missense_Mutation SNP A A T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr11:100933339A>T uc001pgh.2 - 4 2794 c.2051T>A c.(2050-2052)ATT>AAT p.I684N PGR_uc001pgg.2_Missense_Mutation_p.I65N|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 684 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CAGTGGTGGAATCAACTGTAT 0.468 GUCY1A2 2977 broad.mit.edu 37 11 106810753 106810753 + Silent SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr11:106810753A>G uc001pjg.1 - 4 1029 c.639T>C c.(637-639)TCT>TCC p.S213S GUCY1A2_uc010rvo.1_Silent_p.S213S|GUCY1A2_uc009yxn.1_Silent_p.S213S NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 213 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GTTTTCCAAAAGAAGTTCTAA 0.453 IL10RA 3587 broad.mit.edu 37 11 117866365 117866365 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr11:117866365C>T uc001prv.2 + 6 827 c.750C>T c.(748-750)CTC>CTT p.L250L IL10RA_uc010rxl.1_Silent_p.L230L|IL10RA_uc010rxm.1_Silent_p.L230L|IL10RA_uc010rxn.1_Silent_p.L101L|IL10RA_uc001prw.2_Silent_p.L101L NM_001558 NP_001549 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha precursor 250 Helical; (Potential). integral to membrane|plasma membrane interleukin-10 receptor activity ovary(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) CCGGAGCCCTCGCCTACTGCC 0.587 CXCR5 643 broad.mit.edu 37 11 118765000 118765000 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr11:118765000G>A uc001pue.3 + 2 857 c.747G>A c.(745-747)CAG>CAA p.Q249Q CXCR5_uc001puf.2_Silent_p.Q204Q NM_001716 NP_001707 P32302 CXCR5_HUMAN Burkitt lymphoma receptor 1 isoform 1 249 Cytoplasmic (Potential). B cell activation|cellular component movement integral to plasma membrane C-X-C chemokine receptor activity breast(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) GCCAGGCCCAGCGGCGCCCTC 0.617 TECTA 7007 broad.mit.edu 37 11 120998532 120998532 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr11:120998532G>A uc010rzo.1 + 8 1846 c.1846G>A c.(1846-1848)GAC>AAC p.D616N NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 616 TIL 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CACATGCTCCGACCTGACGGC 0.642 OR8D4 338662 broad.mit.edu 37 11 123778075 123778075 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr11:123778075C>T uc010saa.1 + 1 937 c.937C>T c.(937-939)CCA>TCA p.P313S NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 313 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) ATCTTTATCTCCAGGATAAAT 0.269 CACNA1C 775 broad.mit.edu 37 12 2622033 2622033 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr12:2622033C>T uc009zdu.1 + 9 1586 c.1273C>T c.(1273-1275)CGG>TGG p.R425W CACNA1C_uc009zdv.1_Missense_Mutation_p.R422W|CACNA1C_uc001qkb.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkc.2_Missense_Mutation_p.R425W|CACNA1C_uc001qke.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkf.2_Missense_Mutation_p.R425W|CACNA1C_uc001qjz.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkd.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkg.2_Missense_Mutation_p.R425W|CACNA1C_uc009zdw.1_Missense_Mutation_p.R425W|CACNA1C_uc001qkh.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkl.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkn.2_Missense_Mutation_p.R425W|CACNA1C_uc001qko.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkp.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkr.2_Missense_Mutation_p.R425W|CACNA1C_uc001qku.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkq.2_Missense_Mutation_p.R425W|CACNA1C_uc001qks.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkt.2_Missense_Mutation_p.R425W|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.R161W|CACNA1C_uc001qkj.1_Missense_Mutation_p.R161W|CACNA1C_uc001qkk.1_Missense_Mutation_p.R161W|CACNA1C_uc001qkm.1_Missense_Mutation_p.R161W|CACNA1C_uc009zdy.1_Missense_Mutation_p.R50W|CACNA1C_uc001qkv.1_5'UTR NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 425 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCAGAAGCTGCGGGAGAAGCA 0.552 TAS2R13 50838 broad.mit.edu 37 12 11061719 11061719 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr12:11061719C>A uc001qzg.1 - 1 443 c.179G>T c.(178-180)TGG>TTG p.W60L PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron NM_023920 NP_076409 Q9NYV9 T2R13_HUMAN taste receptor, type 2, member 13 60 Helical; Name=2; (Potential). sensory perception of taste integral to membrane taste receptor activity breast(1)|skin(1) 2 TAATATTTCCCAGATCAGCCC 0.373 PDE3A 5139 broad.mit.edu 37 12 20766614 20766614 + Missense_Mutation SNP G G C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr12:20766614G>C uc001reh.1 + 3 1271 c.1249G>C c.(1249-1251)GAC>CAC p.D417H NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 417 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CTCTGAAAAAGACAAGCTTGC 0.428 SLCO1B3 28234 broad.mit.edu 37 12 21011495 21011495 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr12:21011495T>G uc001rek.2 + 4 475 c.349T>G c.(349-351)TTC>GTC p.F117V SLCO1B3_uc001rel.2_Missense_Mutation_p.F117V|SLCO1B3_uc010sil.1_Missense_Mutation_p.F117V|LST-3TM12_uc010sim.1_Missense_Mutation_p.F117V NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 117 Helical; Name=3; (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) ACCACATTTCTTCATGGGATA 0.338 PYROXD1 79912 broad.mit.edu 37 12 21602575 21602575 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr12:21602575T>C uc001rew.2 + 4 491 c.364T>C c.(364-366)TGT>CGT p.C122R PYROXD1_uc009ziq.2_5'UTR|PYROXD1_uc009zir.2_Intron NM_024854 NP_079130 Q8WU10 PYRD1_HUMAN pyridine nucleotide-disulphide oxidoreductase 122 oxidoreductase activity ovary(1) 1 aaagttgatatgtgaaggaaa 0.259 LRRK2 120892 broad.mit.edu 37 12 40714877 40714877 + Missense_Mutation SNP A A T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr12:40714877A>T uc001rmg.3 + 35 5178 c.5057A>T c.(5056-5058)GAG>GTG p.E1686V LRRK2_uc009zjw.2_Missense_Mutation_p.E524V|LRRK2_uc001rmi.2_Missense_Mutation_p.E519V NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1686 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CCCCATTGTGAGAACTCTGAA 0.398 NR4A1 3164 broad.mit.edu 37 12 52448549 52448549 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr12:52448549T>G uc001rzs.2 + 3 751 c.437T>G c.(436-438)TTC>TGC p.F146C NR4A1_uc010sno.1_Missense_Mutation_p.F159C|NR4A1_uc001rzr.2_Missense_Mutation_p.F146C|NR4A1_uc009zmb.1_Missense_Mutation_p.F146C|NR4A1_uc001rzt.2_Missense_Mutation_p.F146C|NR4A1_uc009zmc.2_5'Flank NM_002135 NP_002126 P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 146 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(357;0.0967) ACGCCCAGCTTCCAGCCGCCC 0.687 KRT3 3850 broad.mit.edu 37 12 53186067 53186067 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr12:53186067C>T uc001say.2 - 5 1210 c.1144G>A c.(1144-1146)GCT>ACT p.A382T NM_057088 NP_476429 P12035 K2C3_HUMAN keratin 3 382 Rod.|Coil 2. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity 0 CTTCTCTGAGCGATATCCTCA 0.547 OR6C6 283365 broad.mit.edu 37 12 55688654 55688654 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr12:55688654G>A uc010sph.1 - 1 363 c.363C>T c.(361-363)TAC>TAT p.Y121Y NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|skin(1) 2 AGATGGCAACGTAGCGGTCAT 0.388 KCNC2 3747 broad.mit.edu 37 12 75601257 75601257 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr12:75601257G>A uc001sxg.1 - 2 1051 c.507C>T c.(505-507)TTC>TTT p.F169F KCNC2_uc009zry.2_Silent_p.F169F|KCNC2_uc001sxe.2_Silent_p.F169F|KCNC2_uc001sxf.2_Silent_p.F169F|KCNC2_uc010stw.1_Silent_p.F169F NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 169 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 CGGGGGTCTCGAAGATGTCCA 0.721 ACSS3 79611 broad.mit.edu 37 12 81532956 81532956 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr12:81532956G>T uc001szl.1 + 4 783 c.692G>T c.(691-693)AGG>ATG p.R231M ACSS3_uc001szm.1_Missense_Mutation_p.R230M NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 231 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CCTGGAAGGAGGGTAGAGTAC 0.348 USP44 84101 broad.mit.edu 37 12 95927656 95927656 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr12:95927656C>T uc001teg.2 - 2 521 c.377G>A c.(376-378)GGT>GAT p.G126D USP44_uc001teh.2_Missense_Mutation_p.G126D|USP44_uc009zte.2_Missense_Mutation_p.G123D NM_001042403 NP_001035862 Q9H0E7 UBP44_HUMAN ubiquitin thiolesterase 44 126 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1)|breast(1)|central_nervous_system(1) 3 AGAATCATCACCTGTACCCAT 0.428 BTBD11 121551 broad.mit.edu 37 12 108013802 108013802 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr12:108013802G>A uc001tmk.1 + 11 3013 c.2492G>A c.(2491-2493)CGG>CAG p.R831Q BTBD11_uc009zut.1_Missense_Mutation_p.R712Q|BTBD11_uc001tmj.2_Missense_Mutation_p.R831Q|BTBD11_uc001tml.1_Missense_Mutation_p.R368Q NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 831 ANK 5. integral to membrane DNA binding skin(2)|ovary(1) 3 GAGTCTTTGCGGATCGCCTTC 0.428 ZCCHC8 55596 broad.mit.edu 37 12 122975087 122975087 + Missense_Mutation SNP A A T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr12:122975087A>T uc001ucn.2 - 4 476 c.345T>A c.(343-345)TTT>TTA p.F115L ZCCHC8_uc009zxp.2_5'UTR|ZCCHC8_uc009zxq.2_5'UTR NM_017612 NP_060082 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 115 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) AATTTGATACAAATTCCTCTA 0.333 TMEM132B 114795 broad.mit.edu 37 12 126139127 126139127 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr12:126139127C>T uc001uhe.1 + 9 3116 c.3108C>T c.(3106-3108)GAC>GAT p.D1036D TMEM132B_uc001uhf.1_Silent_p.D548D NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 1036 Cytoplasmic (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TCCCAGAGGACGGCGGCCCAT 0.473 EFHA1 221154 broad.mit.edu 37 13 22095431 22095431 + Missense_Mutation SNP G G C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr13:22095431G>C uc001uof.2 - 6 572 c.550C>G c.(550-552)CTG>GTG p.L184V NM_152726 NP_689939 Q8IYU8 EFHA1_HUMAN EF-hand domain family, member A1 184 EF-hand 1. calcium ion binding 0 all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367) all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189) TCTGTATCCAGCATTTTAAAA 0.308 TNFRSF19 55504 broad.mit.edu 37 13 24190051 24190051 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr13:24190051C>T uc001uov.1 + 4 290 c.226C>T c.(226-228)CGG>TGG p.R76W TNFRSF19_uc001uot.2_Missense_Mutation_p.R76W|TNFRSF19_uc010tcu.1_5'UTR|TNFRSF19_uc001uow.2_Missense_Mutation_p.R76W NM_018647 NP_061117 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, 76 TNFR-Cys 2.|Extracellular (Potential). apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity kidney(1)|skin(1) 2 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) TGTGACGTGCCGGCTGCACAG 0.537 RXFP2 122042 broad.mit.edu 37 13 32365959 32365959 + Nonsense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr13:32365959C>T uc001utt.2 + 15 1233 c.1162C>T c.(1162-1164)CGA>TGA p.R388* RXFP2_uc010aba.2_Nonsense_Mutation_p.R347* NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 388 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) CAAAAACTTTCGATACTGCTC 0.423 ZC3H13 23091 broad.mit.edu 37 13 46541793 46541793 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr13:46541793G>A uc010tfw.1 - 14 4173 c.4167C>T c.(4165-4167)CGC>CGT p.R1389R ZC3H13_uc001vaq.2_5'UTR|ZC3H13_uc001vas.1_Silent_p.R1389R NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1389 nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TTGCTTCACAGCGTTTCACAG 0.313 LRCH1 23143 broad.mit.edu 37 13 47224395 47224395 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr13:47224395G>A uc001vbj.2 + 2 603 c.367G>A c.(367-369)GAA>AAA p.E123K LRCH1_uc010acp.2_Missense_Mutation_p.E123K|LRCH1_uc001vbk.2_Missense_Mutation_p.E123K|LRCH1_uc001vbl.3_Missense_Mutation_p.E123K NM_015116 NP_055931 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) 123 LRR 2. ovary(1)|central_nervous_system(1) 2 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) TGTATCACTGGAAATTCTTAA 0.348 PCDH17 27253 broad.mit.edu 37 13 58207414 58207414 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr13:58207414C>T uc001vhq.1 + 1 1626 c.734C>T c.(733-735)GCG>GTG p.A245V PCDH17_uc010aec.1_Missense_Mutation_p.A245V NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 245 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GTCTTCGAGGCGCCATCCTAC 0.602 PCDH17 27253 broad.mit.edu 37 13 58299127 58299127 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr13:58299127A>C uc001vhq.1 + 4 4071 c.3179A>C c.(3178-3180)AAA>ACA p.K1060T PCDH17_uc010aec.1_Missense_Mutation_p.K1059T|PCDH17_uc001vhr.1_Missense_Mutation_p.K149T NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 1060 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TGTGAAGCAAAACCAGGAGCC 0.552 PCDH20 64881 broad.mit.edu 37 13 61985660 61985660 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr13:61985660T>C uc001vid.3 - 2 2936 c.2572A>G c.(2572-2574)AGA>GGA p.R858G PCDH20_uc010thj.1_Missense_Mutation_p.R858G NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 831 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GGTTCTTTTCTTAAAAGACTC 0.408 GPC5 2262 broad.mit.edu 37 13 92408651 92408651 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr13:92408651G>T uc010tif.1 + 5 1623 c.1257G>T c.(1255-1257)TGG>TGT p.W419C NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 419 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TTCCCTGCTGGAATGGAGAAG 0.383 OR10G2 26534 broad.mit.edu 37 14 22102698 22102698 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr14:22102698C>T uc010tmc.1 - 1 301 c.301G>A c.(301-303)GGC>AGC p.G101S NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, 101 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) GCCACACAGCCACCAAACGGG 0.507 FOXG1 2290 broad.mit.edu 37 14 29237297 29237297 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr14:29237297G>A uc001wqe.2 + 1 1011 c.812G>A c.(811-813)GGC>GAC p.G271D NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 271 Fork-head. axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GGCACCACGGGCAAGCTGCGG 0.701 SYT16 83851 broad.mit.edu 37 14 62463155 62463155 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr14:62463155A>G uc001xfu.1 + 1 615 c.418A>G c.(418-420)ATT>GTT p.I140V SYT16_uc010tsd.1_Missense_Mutation_p.I140V NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 140 central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GCTTTCTTCTATTGCGGAGGA 0.473 NIPA2 81614 broad.mit.edu 37 15 23021278 23021278 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr15:23021278G>A uc001yux.2 - 4 672 c.59C>T c.(58-60)TCC>TTC p.S20F NIPA2_uc001yuy.2_Missense_Mutation_p.S20F|NIPA2_uc001yuz.2_Missense_Mutation_p.S20F|NIPA2_uc001yva.2_Missense_Mutation_p.S20F|NIPA2_uc001yvb.2_Missense_Mutation_p.S20F|NIPA2_uc010ayb.2_Missense_Mutation_p.S20F NM_030922 NP_112184 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 20 Helical; (Potential). early endosome|integral to membrane|plasma membrane haematopoietic_and_lymphoid_tissue(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) GAAAATGCTGGAGCTCATAGC 0.428 SNRPN 6638 broad.mit.edu 37 15 25222082 25222082 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr15:25222082C>A uc001ywp.1 + 10 1216 c.326C>A c.(325-327)GCA>GAA p.A109E SNRPN_uc001ywq.1_Missense_Mutation_p.A109E|SNRPN_uc001ywr.1_Missense_Mutation_p.A109E|SNRPN_uc001yws.1_Missense_Mutation_p.A109E|SNRPN_uc001ywt.1_Missense_Mutation_p.A109E|SNRPN_uc001ywv.1_Missense_Mutation_p.A112E|SNRPN_uc001yww.1_Missense_Mutation_p.A109E|SNRPN_uc001ywx.1_Missense_Mutation_p.A109E|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR NM_022807 NP_073718 P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 109 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding ovary(1) 1 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) GTTGGTAGGGCAGCTGGTAGA 0.562 Prader-Willi_syndrome GABRG3 2567 broad.mit.edu 37 15 27271960 27271960 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr15:27271960A>G uc001zbg.1 + 3 428 c.262A>G c.(262-264)ATA>GTA p.I88V GABRG3_uc001zbf.2_Missense_Mutation_p.I88V NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 88 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) TGTGTCATCAATAAACATGGT 0.378 TTBK2 146057 broad.mit.edu 37 15 43067607 43067607 + Missense_Mutation SNP G G C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr15:43067607G>C uc001zqo.2 - 13 2163 c.1724C>G c.(1723-1725)ACT>AGT p.T575S TTBK2_uc010bcy.2_Missense_Mutation_p.T506S NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 575 cell death ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1) 7 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) AGGACTTCCAGTTGTTTTATG 0.443 MFAP1 4236 broad.mit.edu 37 15 44105482 44105482 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr15:44105482G>A uc001zth.1 - 5 875 c.691C>T c.(691-693)CGC>TGC p.R231C NM_005926 NP_005917 P55081 MFAP1_HUMAN microfibrillar-associated protein 1 231 microfibril skin(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.33e-07) TCAGCCATGCGTTTTGCTTCC 0.483 ANPEP 290 broad.mit.edu 37 15 90349397 90349397 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr15:90349397G>A uc002bop.3 - 2 710 c.418C>T c.(418-420)CGT>TGT p.R140C NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 140 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) CCCACACCACGCAGGACCACC 0.617 SLCO3A1 28232 broad.mit.edu 37 15 92706046 92706046 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr15:92706046G>A uc002bqx.2 + 10 2015 c.1814G>A c.(1813-1815)AGC>AAC p.S605N SLCO3A1_uc002bqy.2_Missense_Mutation_p.S605N|SLCO3A1_uc002bqz.1_Missense_Mutation_p.S547N NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, 605 Extracellular (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity skin(1) 1 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) CTGTTCTGGAGCACGTTCTGT 0.562 LASS3 204219 broad.mit.edu 37 15 100942975 100942975 + Silent SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr15:100942975T>C uc002bvz.2 - 13 1597 c.1095A>G c.(1093-1095)TTA>TTG p.L365L LASS3_uc002bwa.2_Silent_p.L376L|LASS3_uc002bwb.2_Silent_p.L365L NM_178842 NP_849164 Q8IU89 CERS3_HUMAN LAG1 longevity assurance homolog 3 365 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) GGCCGTTCTTTAAACAATCCA 0.433 SEC14L5 9717 broad.mit.edu 37 16 5064923 5064923 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr16:5064923G>A uc002cye.2 + 16 2223 c.2043G>A c.(2041-2043)TCG>TCA p.S681S NM_014692 NP_055507 O43304 S14L5_HUMAN SEC14-like 5 681 Ser-rich. integral to membrane|intracellular transporter activity 0 CCGCCACCTCGTCCTCCTCCT 0.657 A2BP1 54715 broad.mit.edu 37 16 7568266 7568266 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr16:7568266G>A uc002cys.2 + 5 1133 c.145G>A c.(145-147)GCG>ACG p.A49T A2BP1_uc010buf.1_Missense_Mutation_p.A49T|A2BP1_uc002cyr.1_Missense_Mutation_p.A49T|A2BP1_uc002cyt.2_Missense_Mutation_p.A49T|A2BP1_uc010uxz.1_Missense_Mutation_p.A92T|A2BP1_uc010uya.1_Missense_Mutation_p.A85T|A2BP1_uc002cyv.1_Missense_Mutation_p.A49T|A2BP1_uc010uyb.1_Missense_Mutation_p.A49T|A2BP1_uc002cyw.2_Missense_Mutation_p.A69T|A2BP1_uc002cyy.2_Missense_Mutation_p.A69T|A2BP1_uc002cyx.2_Missense_Mutation_p.A69T|A2BP1_uc010uyc.1_Missense_Mutation_p.A69T NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 49 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) TCCCCACCCCGCGCCAGAGTA 0.662 PMM2 5373 broad.mit.edu 37 16 8941586 8941586 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr16:8941586C>T uc002czf.3 + 8 715 c.645C>T c.(643-645)GGC>GGT p.G215G PMM2_uc010uyf.1_RNA|PMM2_uc010uyg.1_Silent_p.G132G|PMM2_uc010uyh.1_Silent_p.G90G|PMM2_uc010buj.2_RNA|PMM2_uc010uyi.1_Silent_p.G68G|PMM2_uc002czg.1_5'Flank NM_000303 NP_000294 O15305 PMM2_HUMAN phosphomannomutase 2 215 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol phosphomannomutase activity ovary(1) 1 TCCAGGGTGGCAATGACCATG 0.547 TEPP 374739 broad.mit.edu 37 16 58019442 58019442 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr16:58019442C>A uc002emw.3 + 6 781 c.744C>A c.(742-744)TTC>TTA p.F248L TEPP_uc002emv.3_Missense_Mutation_p.F275L NM_199456 NP_955535 Q6URK8 TEPP_HUMAN testis/prostate/placenta-expressed protein 248 extracellular region kidney(1)|central_nervous_system(1)|skin(1) 3 CCCTGCCTTTCGACTCCCTGT 0.627 CENPN 55839 broad.mit.edu 37 16 81061840 81061840 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr16:81061840G>A uc002ffx.2 + 10 1665 c.875G>A c.(874-876)CGA>CAA p.R292Q CENPN_uc010vnl.1_Missense_Mutation_p.R258Q|CENPN_uc010vnm.1_Missense_Mutation_p.R272Q|CENPN_uc002ffy.3_Missense_Mutation_p.R292Q NM_001100624 NP_001094094 Q96H22 CENPN_HUMAN centromere protein N isoform 2 292 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm 0 GAACCCCTCCGATGCCTAATA 0.393 KLHL36 79786 broad.mit.edu 37 16 84690914 84690914 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr16:84690914C>T uc002fig.2 + 3 642 c.501C>T c.(499-501)ATC>ATT p.I167I KLHL36_uc010chl.2_Silent_p.I166I NM_024731 NP_079007 Q8N4N3 KLH36_HUMAN kelch-like 36 167 BACK. skin(2) 2 ATGCCTTCATCGATGGCTTCA 0.572 TUBB3 10381 broad.mit.edu 37 16 90002028 90002028 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr16:90002028G>A uc002fph.1 + 4 1234 c.1169G>A c.(1168-1170)CGG>CAG p.R390Q TUBB3_uc002fpf.2_Missense_Mutation_p.R737Q|TUBB3_uc010ciz.1_Missense_Mutation_p.R318Q|TUBB3_uc002fpg.1_Missense_Mutation_p.R244Q|TUBB3_uc002fpi.1_Missense_Mutation_p.R318Q|TUBB3_uc002fpj.1_Missense_Mutation_p.R318Q|TUBB3_uc010cjb.1_Missense_Mutation_p.R244Q|TUBB3_uc002fpk.1_Missense_Mutation_p.R244Q NM_006086 NP_006077 Q13509 TBB3_HUMAN tubulin, beta, 4 390 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(2)|pancreas(1) 3 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) GCCATGTTCCGGCGCAAGGCC 0.627 SERPINF2 5345 broad.mit.edu 37 17 1657612 1657612 + Silent SNP C C T rs147941157 TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr17:1657612C>T uc002ftk.1 + 10 1337 c.1260C>T c.(1258-1260)TTC>TTT p.F420F SERPINF2_uc010vqr.1_Silent_p.F356F NM_000934 NP_000925 P08697 A2AP_HUMAN alpha-2-antiplasmin isoform a precursor 420 acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) TCTTCATCTTCGAGGACACCA 0.652 POLR2A 5430 broad.mit.edu 37 17 7416898 7416898 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr17:7416898C>T uc002ghf.3 + 29 5549 c.5315C>T c.(5314-5316)ACT>ATT p.T1772I NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 1772 26.|52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN]. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) TATTCACCTACTAGTCCCAAC 0.463 GAS7 8522 broad.mit.edu 37 17 9820567 9820567 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr17:9820567C>A uc002gmg.1 - 14 1570 c.1409G>T c.(1408-1410)CGC>CTC p.R470L GAS7_uc010vvc.1_Missense_Mutation_p.R284L|GAS7_uc002gmh.1_Missense_Mutation_p.R330L|GAS7_uc010vvd.1_Missense_Mutation_p.R422L|GAS7_uc002gmi.2_Missense_Mutation_p.R406L|GAS7_uc002gmj.1_Missense_Mutation_p.R410L|GAS7_uc010coh.1_Missense_Mutation_p.R410L NM_201433 NP_958839 O60861 GAS7_HUMAN growth arrest-specific 7 isoform c 470 cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity lung(1)|pancreas(1) 2 GTCCACAGGGCGGATGTTGCC 0.637 T MLL AML* MYO1D 4642 broad.mit.edu 37 17 30986210 30986210 + Silent SNP G G A rs150683059 TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr17:30986210G>A uc002hho.1 - 17 2280 c.2268C>T c.(2266-2268)TAC>TAT p.Y756Y MYO1D_uc002hhp.1_Silent_p.Y756Y NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 756 myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) CGTGCTTCCCGTAGTCTCGCA 0.532 OREG0024311 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) AMAC1 146861 broad.mit.edu 37 17 33521011 33521011 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr17:33521011A>C uc002hjd.2 - 1 402 c.316T>G c.(316-318)TTC>GTC p.F106V NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 106 DUF6 1.|Helical; (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) AGGGCACAGAAGAAGGCCCGG 0.587 KRT39 390792 broad.mit.edu 37 17 39114929 39114929 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr17:39114929T>C uc002hvo.1 - 7 1436 c.1400A>G c.(1399-1401)GAG>GGG p.E467G KRT39_uc010wfm.1_Missense_Mutation_p.E200G NM_213656 NP_998821 Q6A163 K1C39_HUMAN type I hair keratin KA35 467 Tail. intermediate filament structural molecule activity 0 Breast(137;0.00043)|Ovarian(249;0.15) ATCCTTAATCTCCTTGGTGAT 0.498 KRT35 3886 broad.mit.edu 37 17 39635168 39635168 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr17:39635168C>T uc002hws.2 - 4 834 c.791G>A c.(790-792)CGA>CAA p.R264Q NM_002280 NP_002271 Q92764 KRT35_HUMAN keratin 35 264 Rod.|Coil 2. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity ovary(1)|skin(1) 2 Breast(137;0.000286) CTCCAGAACTCGGTTCAGGTC 0.552 STAT3 6774 broad.mit.edu 37 17 40476996 40476996 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr17:40476996C>T uc002hzl.1 - 16 1689 c.1449G>A c.(1447-1449)CTG>CTA p.L483L STAT3_uc002hzk.1_Silent_p.L483L|STAT3_uc002hzm.1_Silent_p.L483L|STAT3_uc010wgh.1_Silent_p.L385L|STAT3_uc002hzn.1_Silent_p.L483L NM_139276 NP_644805 P40763 STAT3_HUMAN signal transducer and activator of transcription 483 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) GATTGTTGGTCAGCATGTTGT 0.547 Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome SLC35B1 10237 broad.mit.edu 37 17 47782507 47782507 + Silent SNP G G A rs150721486 byFrequency TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr17:47782507G>A uc002iph.1 - 5 594 c.507C>T c.(505-507)GTC>GTT p.V169V SLC35B1_uc002ipi.1_Silent_p.V102V|SLC35B1_uc002ipj.1_Silent_p.V45V|SLC35B1_uc010wly.1_Silent_p.V169V NM_005827 NP_005818 P78383 S35B1_HUMAN solute carrier family 35, member B1 169 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity 0 CTCCATAGCCGACTGTGTGTT 0.488 ABCA8 10351 broad.mit.edu 37 17 66902186 66902186 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr17:66902186C>T uc002jhp.2 - 17 2456 c.2277G>A c.(2275-2277)TCG>TCA p.S759S ABCA8_uc002jhq.2_Silent_p.S799S|ABCA8_uc010wqq.1_Silent_p.S799S|ABCA8_uc010wqr.1_Silent_p.S738S|ABCA8_uc002jhr.2_Silent_p.S799S NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 759 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) TTTATTTACCCGATTCATTAA 0.328 FADS6 283985 broad.mit.edu 37 17 72889611 72889611 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr17:72889611C>T uc002jmd.1 - 1 95 c.83G>A c.(82-84)CGG>CAG p.R28Q NM_178128 NP_835229 Q8N9I5 FADS6_HUMAN fatty acid desaturase domain family, member 6 34 fatty acid biosynthetic process integral to membrane oxidoreductase activity 0 all_lung(278;0.172)|Lung NSC(278;0.207) CTCCAGCTCCCGCAGCAGCGC 0.706 TNRC6C 57690 broad.mit.edu 37 17 76089149 76089149 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr17:76089149G>A uc002jud.2 + 16 4706 c.4106G>A c.(4105-4107)CGT>CAT p.R1369H TNRC6C_uc002juf.2_Missense_Mutation_p.R1366H NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 1369 gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) AGCTGGTCACGTGCCAAATCT 0.502 BAHCC1 57597 broad.mit.edu 37 17 79410252 79410252 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr17:79410252C>T uc002kaf.2 + 3 1877 c.1877C>T c.(1876-1878)CCG>CTG p.P626L BAHCC1_uc002kae.2_5'Flank NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN BAH domain and coiled-coil containing 1 626 DNA binding ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) CTGCCTGCGCCGCCGGACGAG 0.662 LAMA1 284217 broad.mit.edu 37 18 7036008 7036008 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr18:7036008G>A uc002knm.2 - 13 1911 c.1817C>T c.(1816-1818)TCG>TTG p.S606L LAMA1_uc010wzj.1_Missense_Mutation_p.S82L NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 606 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCAGCATGCGACATGAGGTT 0.433 CDH2 1000 broad.mit.edu 37 18 25727656 25727656 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr18:25727656T>G uc002kwg.2 - 2 612 c.153A>C c.(151-153)GAA>GAC p.E51D NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 51 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 GAGGCTGTCCTTCATGCACAT 0.398 SMAD2 4087 broad.mit.edu 37 18 45395639 45395639 + Nonsense_Mutation SNP G G C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr18:45395639G>C uc002lcy.2 - 4 743 c.495C>G c.(493-495)TAC>TAG p.Y165* SMAD2_uc002lcz.2_Nonsense_Mutation_p.Y165*|SMAD2_uc010xdc.1_Nonsense_Mutation_p.Y135*|SMAD2_uc010xdd.1_Nonsense_Mutation_p.Y135* NM_005901 NP_005892 Q15796 SMAD2_HUMAN Sma- and Mad-related protein 2 isoform 1 165 MH1. anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding large_intestine(3)|lung(1)|central_nervous_system(1) 5 TCTGATAGTGGTAAGGGTTTA 0.368 ZNF516 9658 broad.mit.edu 37 18 74154275 74154275 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr18:74154275C>T uc010dqx.1 - 2 971 c.736G>A c.(736-738)GGG>AGG p.G246R ZNF516_uc002lme.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GGGAACTCCCCGGGGCTCAGC 0.687 ZNF236 7776 broad.mit.edu 37 18 74622027 74622027 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr18:74622027G>T uc002lmi.2 + 15 2747 c.2549G>T c.(2548-2550)GGG>GTG p.G850V ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 850 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TCCTCAGATGGGTTTGTGGCT 0.498 EMR1 2015 broad.mit.edu 37 19 6897451 6897451 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr19:6897451G>A uc002mfw.2 + 5 445 c.407G>A c.(406-408)TGC>TAC p.C136Y EMR1_uc010dvc.2_Missense_Mutation_p.C136Y|EMR1_uc010dvb.2_Missense_Mutation_p.C84Y|EMR1_uc010xji.1_Intron|EMR1_uc010xjj.1_Missense_Mutation_p.C136Y NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 136 Extracellular (Potential).|EGF-like 3; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) ATCAATGAGTGCCTCACCAGC 0.478 MAN2B1 4125 broad.mit.edu 37 19 12760024 12760024 + Missense_Mutation SNP T T A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr19:12760024T>A uc002mub.2 - 20 2438 c.2362A>T c.(2362-2364)AAC>TAC p.N788Y MAN2B1_uc010dyv.1_Missense_Mutation_p.N787Y NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 788 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 AGCTGCATGTTTCCATCCTGG 0.582 RAD23A 5886 broad.mit.edu 37 19 13059627 13059627 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr19:13059627G>A uc002mvw.1 + 5 709 c.600G>A c.(598-600)ACG>ACA p.T200T RAD23A_uc002mvx.1_Silent_p.T200T|RAD23A_uc002mvz.1_Silent_p.T200T|RAD23A_uc002mwa.1_Silent_p.T200T|RAD23A_uc002mvy.1_Silent_p.T35T|RAD23A_uc010xmw.1_Silent_p.T35T NM_005053 NP_005044 P54725 RD23A_HUMAN UV excision repair protein RAD23 homolog A 200 UBA 1. interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1) 1 ATCTGCTCACGGTGAGGTGGG 0.647 NER OR10H2 26538 broad.mit.edu 37 19 15839276 15839276 + Silent SNP C C T rs147373947 byFrequency TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr19:15839276C>T uc002nbm.2 + 1 443 c.423C>T c.(421-423)TGC>TGT p.C141C NM_013939 NP_039227 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, 141 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) CACGGGGCTGCGCCTGCCTGG 0.632 ZNF253 56242 broad.mit.edu 37 19 20003046 20003046 + Silent SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr19:20003046T>C uc002noj.2 + 4 1082 c.990T>C c.(988-990)CAT>CAC p.H330H ZNF253_uc002nok.2_Silent_p.H254H|ZNF253_uc002nol.2_RNA NM_021047 NP_066385 O75346 ZN253_HUMAN zinc finger protein 253 330 C2H2-type 6. Missing (in Ref. 1; AAC26844). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTACTATACATAAGAGAATTC 0.388 ZNF431 170959 broad.mit.edu 37 19 21365865 21365865 + Silent SNP T T A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr19:21365865T>A uc002npp.2 + 5 906 c.759T>A c.(757-759)ATT>ATA p.I253I ZNF431_uc010ecq.2_Silent_p.I162I|ZNF431_uc010ecr.2_Silent_p.I254I NM_133473 NP_597730 Q8TF32 ZN431_HUMAN zinc finger protein 431 253 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2) 2 ACAAGAGAATTCATACTGGAG 0.363 ZNF99 7652 broad.mit.edu 37 19 22940707 22940707 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr19:22940707T>G uc010xrh.1 - 5 1731 c.1731A>C c.(1729-1731)AAA>AAC p.K577N NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TATGAATTACTTTATGTCTAG 0.363 TSHZ3 57616 broad.mit.edu 37 19 31768677 31768677 + Silent SNP C C T rs151270303 TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr19:31768677C>T uc002nsy.3 - 2 2087 c.2022G>A c.(2020-2022)CCG>CCA p.P674P NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 674 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) ACCCATCCCGCGGGGGGCTGG 0.657 ACTN4 81 broad.mit.edu 37 19 39215080 39215080 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr19:39215080C>T uc002oja.1 + 16 1944 c.1885C>T c.(1885-1887)CTG>TTG p.L629L ACTN4_uc002ojb.1_5'Flank NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 629 Spectrin 3. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity 0 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGTGCAGCAGCTGGTGCCAAA 0.701 RTN2 6253 broad.mit.edu 37 19 45998025 45998025 + Silent SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr19:45998025G>T uc002pcb.2 - 3 546 c.318C>A c.(316-318)GGC>GGA p.G106G RTN2_uc002pcc.2_Silent_p.G106G|RTN2_uc002pcd.2_RNA NM_005619 NP_005610 O75298 RTN2_HUMAN reticulon 2 isoform A 106 integral to endoplasmic reticulum membrane signal transducer activity ovary(3) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) CCAAGCTGTCGCCCAGGCTGG 0.711 ZC3H4 23211 broad.mit.edu 37 19 47588354 47588354 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr19:47588354C>T uc002pga.3 - 8 1104 c.1066G>A c.(1066-1068)GGA>AGA p.G356R ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 356 Gly-rich. nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TCGTTCATTCCGCCCTTGTTC 0.587 KLK13 26085 broad.mit.edu 37 19 51559890 51559890 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr19:51559890C>T uc002pvn.2 - 5 831 c.788G>A c.(787-789)CGA>CAA p.R263Q KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.R190Q|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Missense_Mutation_p.R111Q NM_015596 NP_056411 Q9UKR3 KLK13_HUMAN kallikrein 13 precursor 263 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) TTCATATTTTCGGATTGTTTC 0.512 ZNF347 84671 broad.mit.edu 37 19 53645344 53645344 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr19:53645344A>G uc002qbb.1 - 5 806 c.737T>C c.(736-738)TTA>TCA p.L246S ZNF347_uc010eql.1_Missense_Mutation_p.L247S|ZNF347_uc002qbc.1_Missense_Mutation_p.L247S NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) TGTGAGTAATAAAGAAGAGAT 0.358 LENG9 94059 broad.mit.edu 37 19 54974143 54974143 + Missense_Mutation SNP C C G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr19:54974143C>G uc010yez.1 - 1 752 c.633G>C c.(631-633)AAG>AAC p.K211N NM_198988 NP_945339 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 211 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) TGCTCCCTCGCTTGGGGGCAG 0.716 NLRP11 204801 broad.mit.edu 37 19 56307512 56307512 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr19:56307512C>T uc010ygf.1 - 8 2987 c.2276G>A c.(2275-2277)AGG>AAG p.R759K NLRP11_uc002qlz.2_Missense_Mutation_p.R606K|NLRP11_uc002qmb.2_Missense_Mutation_p.R660K|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 759 LRR 3. ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CCCGTCGCTCCTCAGCGGATT 0.493 ZNF583 147949 broad.mit.edu 37 19 56935080 56935080 + Silent SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr19:56935080T>C uc010ygl.1 + 5 1218 c.1053T>C c.(1051-1053)CCT>CCC p.P351P ZNF583_uc002qnc.2_Silent_p.P351P|ZNF583_uc010ygm.1_Silent_p.P351P NM_001159860 NP_001153332 Q96ND8 ZN583_HUMAN zinc finger protein 583 351 P -> R (in Ref. 3; AAB81088). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) GAGAGAAACCTTATGTGTGTA 0.403 PEG3 5178 broad.mit.edu 37 19 57335747 57335747 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr19:57335747G>T uc002qnu.2 - 1 628 c.277C>A c.(277-279)CAG>AAG p.Q93K ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_5'UTR|ZIM2_uc002qnq.2_5'UTR|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_5'UTR|PEG3_uc002qnt.2_Missense_Mutation_p.Q93K|PEG3_uc002qnv.2_Missense_Mutation_p.Q93K|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Missense_Mutation_p.Q93K NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 93 SCAN box. 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) GTCAGGTACTGCTCAAGGACC 0.542 ZNF134 7693 broad.mit.edu 37 19 58132192 58132192 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr19:58132192C>T uc002qpn.2 + 3 804 c.705C>T c.(703-705)AGC>AGT p.S235S ZNF134_uc002qpo.2_Silent_p.S62S|ZNF211_uc010yhb.1_5'UTR NM_003435 NP_003426 P52741 ZN134_HUMAN zinc finger protein 134 235 C2H2-type 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) ATGAATGCAGCGAATGTGGAA 0.443 PXDN 7837 broad.mit.edu 37 2 1643130 1643130 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr2:1643130C>A uc002qxa.2 - 20 4081 c.4017G>T c.(4015-4017)GAG>GAT p.E1339D NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1339 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GGTAGCTGAACTCAAGAGACC 0.507 BIRC6 57448 broad.mit.edu 37 2 32707635 32707635 + Missense_Mutation SNP G G A rs144411884 TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr2:32707635G>A uc010ezu.2 + 39 7815 c.7681G>A c.(7681-7683)GTT>ATT p.V2561I NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 2561 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GACAGTTAGCGTTTCAGTCTC 0.393 RASGRP3 25780 broad.mit.edu 37 2 33752219 33752220 + Missense_Mutation DNP AC AC CA TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr2:33752219_33752220AC>CA uc002rox.2 + 11 1450_1451 c.823_824AC>CA c.(823-825)ACA>CAA p.T275Q RASGRP3_uc010ync.1_Missense_Mutation_p.T275Q|RASGRP3_uc002roy.2_Missense_Mutation_p.T275Q NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 275 Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) GAATGAAATGACAGAGTTGGTC 0.485 NRXN1 9378 broad.mit.edu 37 2 50780014 50780014 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr2:50780014G>T uc010fbq.2 - 9 3067 c.1590C>A c.(1588-1590)TTC>TTA p.F530L NRXN1_uc002rxb.3_Missense_Mutation_p.F162L|NRXN1_uc002rxe.3_Missense_Mutation_p.F490L|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCAAAGAGATGAAAGACTCTG 0.418 CCDC85A 114800 broad.mit.edu 37 2 56570051 56570051 + Silent SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr2:56570051A>G uc002rzn.2 + 3 1780 c.1278A>G c.(1276-1278)AGA>AGG p.R426R NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 426 Potential. breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TGGAGGCAAGAGTAAGACAGC 0.418 EIF2AK3 9451 broad.mit.edu 37 2 88890523 88890523 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr2:88890523A>G uc002stc.3 - 5 1017 c.815T>C c.(814-816)ATG>ACG p.M272T NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 272 Lumenal (Potential). activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 TCTCGTTTCCATGTCTGGAAT 0.368 MGAT4A 11320 broad.mit.edu 37 2 99260500 99260500 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr2:99260500C>T uc002sze.2 - 10 1220 c.906G>A c.(904-906)GCG>GCA p.A302A C2orf64_uc002sza.2_RNA|MGAT4A_uc010yvm.1_Silent_p.A174A|MGAT4A_uc010fil.2_Silent_p.A56A NM_012214 NP_036346 Q9UM21 MGT4A_HUMAN alpha-1,3-mannosyl-glycoprotein 302 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding skin(1) 1 TAAGATCCGGCGCTTGAAACA 0.408 LRP1B 53353 broad.mit.edu 37 2 140990805 140990805 + Nonsense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr2:140990805C>A uc002tvj.1 - 91 14722 c.13750G>T c.(13750-13752)GAA>TAA p.E4584* NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4584 Cytoplasmic (Potential). 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) GGAAGCAGTTCTTTCCTTTCA 0.333 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141215210 141215210 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr2:141215210T>G uc002tvj.1 - 61 10608 c.9636A>C c.(9634-9636)CAA>CAC p.Q3212H NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3212 Extracellular (Potential).|LDL-receptor class B 31. 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) CTGGAATATCTTGATTAGGGA 0.418 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141751631 141751631 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr2:141751631T>G uc002tvj.1 - 16 3549 c.2577A>C c.(2575-2577)CAA>CAC p.Q859H LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 859 Extracellular (Potential).|LDL-receptor class A 3. 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) TCCACCGAGCTTGGATACAGT 0.423 TSP Lung(27;0.18) LRP2 4036 broad.mit.edu 37 2 170063434 170063434 + Nonsense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr2:170063434C>A uc002ues.2 - 39 7009 c.6796G>T c.(6796-6798)GAG>TAG p.E2266* NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2266 LDL-receptor class B 23.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCAGAGTTCTCTCCATTGATA 0.403 TTN 7273 broad.mit.edu 37 2 179439346 179439346 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr2:179439346A>C uc010zfg.1 - 275 64033 c.63809T>G c.(63808-63810)GTT>GGT p.V21270G uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V14965G|TTN_uc010zfi.1_Missense_Mutation_p.V14898G|TTN_uc010zfj.1_Missense_Mutation_p.V14773G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22197 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCCTTGGTAACTGCAGTTAC 0.433 TTN 7273 broad.mit.edu 37 2 179669304 179669304 + Silent SNP G G A rs143623862 TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr2:179669304G>A uc002und.2 - 2 291 c.66C>T c.(64-66)ACC>ACT p.T22T TTN_uc010zfg.1_Silent_p.T22T|TTN_uc010zfh.1_Silent_p.T22T|TTN_uc010zfi.1_Silent_p.T22T|TTN_uc010zfj.1_Silent_p.T22T|TTN_uc002unb.2_Silent_p.T22T Q8WZ42 TITIN_HUMAN Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein. 22 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAAAGGTTGCGGTACTACCCT 0.438 ZNF804A 91752 broad.mit.edu 37 2 185802547 185802547 + Silent SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr2:185802547T>G uc002uph.2 + 4 3018 c.2424T>G c.(2422-2424)CCT>CCG p.P808P NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 808 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 CCTGCAAGCCTAAAAAGAAAC 0.383 SLC11A1 6556 broad.mit.edu 37 2 219258851 219258851 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr2:219258851C>T uc002vhv.2 + 13 1663 c.1323C>T c.(1321-1323)TTC>TTT p.F441F SLC11A1_uc010zkc.1_Silent_p.F374F|SLC11A1_uc002vhu.1_Silent_p.F236F|SLC11A1_uc002vhw.2_Silent_p.F323F|SLC11A1_uc010fvr.2_Silent_p.F236F NM_000578 NP_000569 P49279 NRAM1_HUMAN natural resistance-associated macrophage protein 441 Helical; (Potential). F -> V (in Ref. 5; CAA57541). activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity ovary(3)|central_nervous_system(1) 4 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTCCCGTTCGCCGTGCTGC 0.537 DGKD 8527 broad.mit.edu 37 2 234299087 234299087 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr2:234299087C>T uc002vui.1 + 3 318 c.306C>T c.(304-306)AGC>AGT p.S102S DGKD_uc002vuj.1_Silent_p.S58S NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 102 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) CAGATGCCAGCGTAGCTGAAT 0.423 HDLBP 3069 broad.mit.edu 37 2 242181952 242181952 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr2:242181952C>T uc002waz.2 - 17 2320 c.2092G>A c.(2092-2094)GAC>AAC p.D698N HDLBP_uc002wba.2_Missense_Mutation_p.D698N|HDLBP_uc002wbb.2_Missense_Mutation_p.D650N NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 698 KH 8. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) ACAACGGTGTCGCTTCCTGAA 0.602 D2HGDH 728294 broad.mit.edu 37 2 242695360 242695360 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr2:242695360G>A uc002wce.1 + 9 1410 c.1237G>A c.(1237-1239)GAC>AAC p.D413N D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Missense_Mutation_p.D279N|D2HGDH_uc002wcg.1_RNA|D2HGDH_uc002wch.2_RNA|D2HGDH_uc002wci.2_Missense_Mutation_p.D112N NM_152783 NP_689996 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase precursor 413 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) GCGGCTCTACGACATCGTGAC 0.567 VPS16 64601 broad.mit.edu 37 20 2847197 2847197 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr20:2847197A>G uc002whe.2 + 24 2545 c.2497A>G c.(2497-2499)AGG>GGG p.R833G VPS16_uc002whh.2_Intron|PTPRA_uc002whj.2_Intron|VPS16_uc002whf.2_Missense_Mutation_p.R689G|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.R519G|VPS16_uc002whi.2_Missense_Mutation_p.R317G NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 833 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 TCAACGGGCCAGGGCACAAGC 0.582 PLCB1 23236 broad.mit.edu 37 20 8665634 8665634 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr20:8665634C>T uc002wnb.2 + 10 921 c.918C>T c.(916-918)GTC>GTT p.V306V PLCB1_uc010zrb.1_Silent_p.V205V|PLCB1_uc002wna.2_Silent_p.V306V|PLCB1_uc002wnc.1_Silent_p.V205V NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 306 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 AAAACGGAGTCGTTTCACCTG 0.413 SEMG1 6406 broad.mit.edu 37 20 43837052 43837052 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr20:43837052C>T uc002xni.2 + 2 1171 c.1114C>T c.(1114-1116)CGC>TGC p.R372C SEMG1_uc002xnj.2_Missense_Mutation_p.R312C|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Intron NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 372 58 AA repeat 2. insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) TGTATCCCAACGCAGTATTTA 0.418 TFAP2C 7022 broad.mit.edu 37 20 55206365 55206365 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr20:55206365C>T uc002xya.2 + 2 396 c.153C>T c.(151-153)GTC>GTT p.V51V TFAP2C_uc010zzi.1_5'UTR NM_003222 NP_003213 Q92754 AP2C_HUMAN transcription factor AP-2 gamma 51 Gln/Pro-rich (transactivation domain). cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Colorectal(105;0.229) ACACTGGAGTCGCCGAATATC 0.687 RIPK4 54101 broad.mit.edu 37 21 43161417 43161417 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr21:43161417C>T uc002yzn.1 - 8 1984 c.1936G>A c.(1936-1938)GAG>AAG p.E646K NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 646 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 TGCCCCGTCTCCGCGGCCACG 0.692 LARGE 9215 broad.mit.edu 37 22 34046630 34046630 + Missense_Mutation SNP G G A rs143437080 byFrequency TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr22:34046630G>A uc003and.3 - 4 710 c.131C>T c.(130-132)CCG>CTG p.P44L LARGE_uc003ane.3_Missense_Mutation_p.P44L|LARGE_uc010gwp.2_Missense_Mutation_p.P44L|LARGE_uc011ame.1_5'UTR|LARGE_uc011amf.1_Missense_Mutation_p.P44L NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 44 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) GGACTCCAGCGGTGACAGAGA 0.632 TEF 7008 broad.mit.edu 37 22 41791804 41791804 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr22:41791804G>A uc003azy.2 + 4 838 c.752G>A c.(751-753)CGG>CAG p.R251Q TEF_uc003azx.2_Missense_Mutation_p.R221Q|TEF_uc011apa.1_Missense_Mutation_p.R256Q NM_003216 NP_003207 Q10587 TEF_HUMAN thyrotrophic embryonic factor isoform 1 251 Basic motif. rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 AAACGGTCACGGGATGCCCGG 0.582 PKDREJ 10343 broad.mit.edu 37 22 46653338 46653338 + Missense_Mutation SNP G G C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr22:46653338G>C uc003bhh.2 - 1 5882 c.5882C>G c.(5881-5883)GCT>GGT p.A1961G NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1961 Extracellular (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TTCTGCTGAAGCTTTTCTGTC 0.388 CELSR1 9620 broad.mit.edu 37 22 46929691 46929691 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr22:46929691C>T uc003bhw.1 - 1 3377 c.3377G>A c.(3376-3378)TGC>TAC p.C1126Y NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1126 Extracellular (Potential).|Cadherin 9. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GGCCGGGATGCAGCCGATCAC 0.607 GRM7 2917 broad.mit.edu 37 3 6903385 6903385 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr3:6903385C>T uc003bqm.2 + 1 584 c.310C>T c.(310-312)CGG>TGG p.R104W GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R104W|GRM7_uc003bql.2_Missense_Mutation_p.R104W NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 104 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) GCTGGGCGCGCGGATCCTGGA 0.597 HDAC11 79885 broad.mit.edu 37 3 13538326 13538326 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr3:13538326C>T uc003bxy.2 + 4 476 c.343C>T c.(343-345)CGG>TGG p.R115W HDAC11_uc010heb.2_Missense_Mutation_p.R87W|HDAC11_uc011aux.1_Intron|HDAC11_uc003bxz.2_Missense_Mutation_p.R87W|HDAC11_uc011auy.1_Missense_Mutation_p.R64W NM_024827 NP_079103 Q96DB2 HDA11_HUMAN histone deacetylase 11 isoform 1 115 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding ovary(2) 2 GAGGCCCCTTCGGACCCAGAC 0.572 OREG0015411 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SETD2 29072 broad.mit.edu 37 3 47098880 47098880 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr3:47098880G>A uc003cqs.2 - 15 6447 c.6394C>T c.(6394-6396)CGG>TGG p.R2132W SETD2_uc003cqv.2_Missense_Mutation_p.R2199W|SETD2_uc003cqt.1_RNA NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 2132 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.R1629fs*15(1) kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TGAGCCTCCCGTTGAGCCACC 0.453 N|F|S|Mis clear cell renal carcinoma STAB1 23166 broad.mit.edu 37 3 52556844 52556844 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr3:52556844C>A uc003dej.2 + 62 6872 c.6798C>A c.(6796-6798)CAC>CAA p.H2266Q STAB1_uc003dek.1_Missense_Mutation_p.H281Q|STAB1_uc003del.2_Missense_Mutation_p.H153Q NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 2266 Extracellular (Potential).|Link. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CCACTGCCCACCCTGTGGTTT 0.612 ROBO2 6092 broad.mit.edu 37 3 77684060 77684060 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr3:77684060G>T uc003dpy.3 + 24 4443 c.3800G>T c.(3799-3801)AGC>ATC p.S1267I ROBO2_uc003dpz.2_Missense_Mutation_p.S1332I|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.S1271I NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 1267 Cytoplasmic (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CGACCTACCAGCCCATTTTCT 0.468 ARL13B 200894 broad.mit.edu 37 3 93758768 93758768 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr3:93758768G>A uc003drc.2 + 6 1020 c.734G>A c.(733-735)GGT>GAT p.G245D ARL13B_uc010hop.2_Missense_Mutation_p.G96D|ARL13B_uc003drd.2_Missense_Mutation_p.G138D|ARL13B_uc003dre.2_Missense_Mutation_p.G230D|ARL13B_uc003drf.2_Missense_Mutation_p.G245D|ARL13B_uc003drg.2_Missense_Mutation_p.G142D NM_182896 NP_878899 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 2-like 1 isoform 1 245 Potential. GTP binding 0 GGAACCAGTGGTCTGGCTGAG 0.388 COPB2 9276 broad.mit.edu 37 3 139078162 139078162 + Silent SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr3:139078162C>A uc003etf.3 - 18 2383 c.2253G>T c.(2251-2253)CTG>CTT p.L751L COPB2_uc011bmv.1_Silent_p.L722L|COPB2_uc010hui.2_Silent_p.L722L NM_004766 NP_004757 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta 751 WD 9. COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(2) 2 CAGCTTCTGGCAGCCGTCCAG 0.403 CLSTN2 64084 broad.mit.edu 37 3 140282887 140282887 + Missense_Mutation SNP G G A rs140778211 TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr3:140282887G>A uc003etn.2 + 16 2757 c.2567G>A c.(2566-2568)CGG>CAG p.R856Q NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 856 Cytoplasmic (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 TACCGGGTCCGGATCGCCCAC 0.547 HNSCC(16;0.037) CCNL1 57018 broad.mit.edu 37 3 156866355 156866355 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr3:156866355G>T uc003fbf.2 - 11 1855 c.1256C>A c.(1255-1257)TCT>TAT p.S419Y CCNL1_uc003fbd.1_Intron|CCNL1_uc003fbe.2_Missense_Mutation_p.S213Y|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA NM_020307 NP_064703 Q9UK58 CCNL1_HUMAN cyclin L1 419 RS. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding lung(3)|breast(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308) GTATGTTCCAGATCGACTCCG 0.428 SI 6476 broad.mit.edu 37 3 164785157 164785157 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr3:164785157T>G uc003fei.2 - 6 668 c.606A>C c.(604-606)CAA>CAC p.Q202H NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 202 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCCTAATAACTTGGATGCTAA 0.308 HNSCC(35;0.089) PIGG 54872 broad.mit.edu 37 4 515701 515701 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr4:515701G>A uc003gak.3 + 8 1721 c.1585G>A c.(1585-1587)GTG>ATG p.V529M PIGG_uc003gaj.3_Missense_Mutation_p.V521M|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.V396M|PIGG_uc003gal.3_Missense_Mutation_p.V440M|PIGG_uc003gai.2_Intron|PIGG_uc011buw.1_3'UTR|PIGG_uc003gam.2_3'UTR|PIGG_uc003gan.2_Missense_Mutation_p.V440M NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 529 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 TCTGACCAACGTGCTCGTGGG 0.572 DCAF4L1 285429 broad.mit.edu 37 4 41984183 41984183 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr4:41984183G>A uc003gwk.2 + 1 471 c.374G>A c.(373-375)CGG>CAG p.R125Q NM_001029955 NP_001025126 Q3SXM0 DC4L1_HUMAN WD repeat domain 21B 125 skin(1) 1 GTCCCCAACCGGAAGGTGAAG 0.562 UNC5C 8633 broad.mit.edu 37 4 96256683 96256683 + Missense_Mutation SNP T T A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr4:96256683T>A uc003htp.1 - 2 378 c.224A>T c.(223-225)AAG>ATG p.K75M UNC5C_uc010ilc.1_Missense_Mutation_p.K75M|UNC5C_uc003htq.2_Missense_Mutation_p.K75M NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 75 Extracellular (Potential).|Ig-like. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GGGCTTATTCTTCACAATATA 0.423 TACR3 6870 broad.mit.edu 37 4 104511023 104511023 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr4:104511023C>A uc003hxe.1 - 5 1357 c.1214G>T c.(1213-1215)AGA>ATA p.R405I NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 405 Cytoplasmic (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GGACTCCATTCTGGTCACGGT 0.507 GYPA 2993 broad.mit.edu 37 4 144918764 144918764 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr4:144918764T>G uc003ijn.2 - 5 411 c.295A>C c.(295-297)ATT>CTT p.I99L GYPB_uc011chs.1_Intron|GYPB_uc011cht.1_RNA|GYPB_uc011chu.1_RNA|GYPB_uc010ioo.1_Intron|GYPB_uc010iop.2_RNA|GYPB_uc011chv.1_RNA|GYPB_uc011chw.1_Intron|GYPB_uc011chx.1_RNA|GYPB_uc003ijm.1_Missense_Mutation_p.I67L|GYPB_uc011chy.1_RNA|GYPB_uc011chz.1_Intron P02724 GLPA_HUMAN SubName: Full=Glycophorin MiX; Flags: Fragment; 96 Helical. interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2) 2 all_hematologic(180;0.15) ACACACAAAATAATGAGTATT 0.328 KLKB1 3818 broad.mit.edu 37 4 187158094 187158094 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr4:187158094G>A uc003iyy.2 + 5 559 c.488G>A c.(487-489)CGG>CAG p.R163Q KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.R125Q NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor 163 Apple 2. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) GCAGAGTACCGGTGAGTACAA 0.413 TTC23L 153657 broad.mit.edu 37 5 34850318 34850318 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr5:34850318G>T uc003jiu.2 + 4 387 c.284G>T c.(283-285)CGA>CTA p.R95L NM_144725 NP_653326 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 95 Potential. binding central_nervous_system(1) 1 GAGCTGATTCGATGTGTCATC 0.438 MRPS30 10884 broad.mit.edu 37 5 44809103 44809103 + Silent SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr5:44809103T>G uc003joh.2 + 1 77 c.39T>G c.(37-39)GGT>GGG p.G13G MRPS30_uc003joi.1_5'Flank NM_016640 NP_057724 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 13 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome 0 Lung NSC(6;8.08e-07) TGCTACGCGGTCCGAGGCTTT 0.637 HCN1 348980 broad.mit.edu 37 5 45262804 45262804 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr5:45262804T>G uc003jok.2 - 8 1917 c.1892A>C c.(1891-1893)GAG>GCG p.E631A NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 631 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CTGCACCATCTCCCTGTCATG 0.453 HCN1 348980 broad.mit.edu 37 5 45645310 45645310 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr5:45645310T>C uc003jok.2 - 2 851 c.826A>G c.(826-828)AGA>GGA p.R276G NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 276 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TGTATGTATCTAATTAACCTT 0.333 ADAMTS19 171019 broad.mit.edu 37 5 128984623 128984623 + Silent SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr5:128984623C>A uc003kvb.1 + 13 2118 c.2118C>A c.(2116-2118)TCC>TCA p.S706S ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 706 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GAACTTCCTCCCCAAAGCATA 0.438 PCDHA9 9752 broad.mit.edu 37 5 140229433 140229433 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr5:140229433C>T uc003lhu.2 + 1 2077 c.1353C>T c.(1351-1353)AAC>AAT p.N451N 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_uc003lht.1_Silent_p.N451N NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 451 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAACGACAACGCACCAGCGT 0.672 PCDHA13 56136 broad.mit.edu 37 5 140261977 140261977 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr5:140261977G>A uc003lif.2 + 1 124 c.124G>A c.(124-126)GGC>AGC p.G42S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.G42S|PCDHA13_uc003lid.2_Missense_Mutation_p.G42S NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 42 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCAAAACACGGCACCTTCGT 0.657 PCDHB4 56131 broad.mit.edu 37 5 140503532 140503532 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr5:140503532G>A uc003lip.1 + 1 1952 c.1952G>A c.(1951-1953)CGC>CAC p.R651H NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 651 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGCCTCCGCGCTCGGCCACC 0.706 PCDHGB2 56103 broad.mit.edu 37 5 140741307 140741307 + Silent SNP C C T rs1860252 TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr5:140741307C>T uc003ljs.1 + 1 1605 c.1605C>T c.(1603-1605)CGC>CGT p.R535R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Silent_p.R535R|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 535 Extracellular (Potential).|Cadherin 5. 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) TGCAGGCCCGCGACCAGGGCT 0.687 PCDHGB3 56102 broad.mit.edu 37 5 140752045 140752045 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr5:140752045C>T uc003ljw.1 + 1 2084 c.2084C>T c.(2083-2085)GCG>GTG p.A695V 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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.A695V|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 695 Helical; (Potential). 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) CTAGTAGTGGCGTTGGCCTTG 0.572 PCDHGB4 8641 broad.mit.edu 37 5 140768837 140768837 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr5:140768837C>A uc003lkc.1 + 1 1386 c.1386C>A c.(1384-1386)AAC>AAA p.N462K 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_uc011dav.1_Missense_Mutation_p.N462K NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 462 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|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) TGGCCGAGAACAACCCGCCTG 0.547 ARAP3 64411 broad.mit.edu 37 5 141052170 141052170 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr5:141052170C>T uc003llm.2 - 9 1412 c.1334G>A c.(1333-1335)CGG>CAG p.R445Q ARAP3_uc011dbe.1_Missense_Mutation_p.R107Q|ARAP3_uc003lln.2_Missense_Mutation_p.R367Q|ARAP3_uc003llo.1_Missense_Mutation_p.R445Q NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 445 PH 2. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 CTTGGTCTCCCGGACGCTGCA 0.637 ZNF454 285676 broad.mit.edu 37 5 178391973 178391973 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr5:178391973A>G uc003mjo.1 + 5 839 c.568A>G c.(568-570)AGT>GGT p.S190G ZNF454_uc010jkz.1_Missense_Mutation_p.S190G NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN zinc finger protein 454 190 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) CTTCTCTAAGAGTTCAACTCT 0.338 ATXN1 6310 broad.mit.edu 37 6 16326864 16326864 + Missense_Mutation SNP C C T rs139918586 TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr6:16326864C>T uc003nbt.2 - 8 2649 c.1678G>A c.(1678-1680)GTG>ATG p.V560M ATXN1_uc010jpi.2_Missense_Mutation_p.V560M|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 560 Self-association.|Interaction with USP7.|RNA-binding. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GGGGAGGCCACGGACTGCACC 0.632 NUP153 9972 broad.mit.edu 37 6 17629497 17629497 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr6:17629497T>C uc003ncd.1 - 18 3133 c.2933A>G c.(2932-2934)AAT>AGT p.N978S NUP153_uc011dje.1_Missense_Mutation_p.N1009S|NUP153_uc010jpl.1_Missense_Mutation_p.N936S NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 978 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) AAAATTATCATTCTTACTATC 0.323 SLC44A4 80736 broad.mit.edu 37 6 31833651 31833651 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr6:31833651G>A uc010jti.2 - 14 1552 c.1486C>T c.(1486-1488)CGT>TGT p.R496C NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank NM_025257 NP_079533 Q53GD3 CTL4_HUMAN choline transporter-like protein 4 496 Cytoplasmic (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 Choline(DB00122) CATCCTTACCGGAGTGTGCGG 0.602 SCUBE3 222663 broad.mit.edu 37 6 35210049 35210049 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr6:35210049C>T uc003okf.1 + 13 1492 c.1486C>T c.(1486-1488)CTG>TTG p.L496L SCUBE3_uc003okg.1_Silent_p.L495L|SCUBE3_uc003okh.1_Silent_p.L383L NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 496 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 CCGTTTGCACCTGCGAAACAA 0.527 ABCC10 89845 broad.mit.edu 37 6 43415571 43415571 + Silent SNP C C G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr6:43415571C>G uc003ouy.1 + 18 4070 c.3855C>G c.(3853-3855)GGC>GGG p.G1285G ABCC10_uc003ouz.1_Silent_p.G1257G|ABCC10_uc010jyo.1_Silent_p.G391G NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 1285 ABC transporter 2.|ATP 2 (Potential). integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CAGGCTCCGGCAAGTCTTCCC 0.652 TDRD6 221400 broad.mit.edu 37 6 46660186 46660186 + Silent SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr6:46660186C>A uc003oyj.2 + 1 4321 c.4321C>A c.(4321-4323)CGG>AGG p.R1441R TDRD6_uc010jze.2_Silent_p.R1435R NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1441 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) CTTTTCCCAACGGACCAGCGA 0.388 IMPG1 3617 broad.mit.edu 37 6 76751766 76751766 + Nonsense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr6:76751766C>A uc003pik.1 - 2 275 c.145G>T c.(145-147)GAA>TAA p.E49* NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 49 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TACATTTTTTCAGTACTTTCA 0.353 UBE2CBP 90025 broad.mit.edu 37 6 83748171 83748171 + Missense_Mutation SNP G G A rs147405452 byFrequency TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr6:83748171G>A uc003pjp.2 - 5 739 c.631C>T c.(631-633)CGT>TGT p.R211C UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjr.2_Missense_Mutation_p.R179C NM_198920 NP_944602 Q7Z6J8 UB2CB_HUMAN ubiquitin-conjugating enzyme E2C binding 211 cytoplasm ligase activity ovary(1) 1 all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548) BRCA - Breast invasive adenocarcinoma(397;0.0944) ACCTTGCAACGCTTACAAATT 0.328 PRDM13 59336 broad.mit.edu 37 6 100060991 100060991 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr6:100060991C>T uc003pqg.1 + 4 741 c.480C>T c.(478-480)TGC>TGT p.C160C NM_021620 NP_067633 Q9H4Q3 PRD13_HUMAN PR domain containing 13 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) GTTTCCACTGCGTGTTCAGCG 0.627 FOXO3 2309 broad.mit.edu 37 6 108985242 108985242 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr6:108985242G>A uc003psk.2 + 3 1522 c.1206G>A c.(1204-1206)TCG>TCA p.S402S FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Silent_p.S402S|FOXO3_uc011ean.1_Silent_p.S182S|FOXO3_uc010kdj.1_Silent_p.S182S NM_201559 NP_963853 O43524 FOXO3_HUMAN forkhead box O3A 402 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(4)|lung(2) 6 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) CCCAGCCATCGCCCACTGGGG 0.582 TRDN 10345 broad.mit.edu 37 6 123892170 123892170 + Missense_Mutation SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr6:123892170A>C uc003pzj.1 - 2 152 c.130T>G c.(130-132)TTC>GTC p.F44V TRDN_uc003pzk.1_Missense_Mutation_p.F44V|TRDN_uc003pzl.1_Missense_Mutation_p.F44V|TRDN_uc010ken.2_Missense_Mutation_p.F44V|TRDN_uc010keo.1_Missense_Mutation_p.F44V NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 44 Cytoplasmic. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) GGGGAGCTGAACGTCGTCACT 0.463 C6orf174 387104 broad.mit.edu 37 6 127837188 127837188 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr6:127837188G>A uc003qbd.2 - 2 1437 c.572C>T c.(571-573)CCG>CTG p.P191L NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 191 Gly-rich. integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) CCTGGGCGGCGGCGGCTGCGG 0.637 SHPRH 257218 broad.mit.edu 37 6 146244889 146244889 + Silent SNP C C G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr6:146244889C>G uc003qlf.2 - 18 3834 c.3435G>C c.(3433-3435)GTG>GTC p.V1145V SHPRH_uc003qld.2_Silent_p.V1154V|SHPRH_uc003qle.2_Silent_p.V1154V|SHPRH_uc003qlg.1_Silent_p.V701V|SHPRH_uc003qlh.2_Silent_p.V70V|SHPRH_uc003qli.1_Silent_p.V70V NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 1145 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CTCTGTGGATCACATTTAGCC 0.363 GRM1 2911 broad.mit.edu 37 6 146720447 146720447 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr6:146720447G>A uc010khw.1 + 8 2742 c.2272G>A c.(2272-2274)GGC>AGC p.G758S GRM1_uc010khv.1_Missense_Mutation_p.G758S|GRM1_uc003qll.2_Missense_Mutation_p.G758S|GRM1_uc011edz.1_Missense_Mutation_p.G758S|GRM1_uc011eea.1_Missense_Mutation_p.G758S NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 758 Helical; Name=5; (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGCCCCTTTGGGCTACAATGG 0.512 PARK2 5071 broad.mit.edu 37 6 162206908 162206908 + Missense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr6:162206908C>A uc003qtx.3 - 7 901 c.767G>T c.(766-768)CGC>CTC p.R256L PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.R65L|PARK2_uc003qtw.3_Missense_Mutation_p.R65L|PARK2_uc003qty.3_Missense_Mutation_p.R228L|PARK2_uc003qtz.3_Missense_Mutation_p.R107L|PARK2_uc010kke.1_Missense_Mutation_p.R256L|PARK2_uc011egf.1_5'UTR NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 256 RING-type 1; atypical. aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) AATCACGTGGCGGGAGTTGCA 0.502 MMD2 221938 broad.mit.edu 37 7 4949553 4949553 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr7:4949553C>T uc003sno.3 - 6 764 c.568G>A c.(568-570)GTC>ATC p.V190I MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.V166I|MMD2_uc010ksq.2_Missense_Mutation_p.V166I NM_001100600 NP_001094070 Q8IY49 PAQRA_HUMAN monocyte to macrophage 190 Helical; (Potential). integral to membrane receptor activity central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) CCCATTACGACGTAGCAGAGA 0.532 OSBPL3 26031 broad.mit.edu 37 7 24892212 24892212 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr7:24892212C>T uc003sxf.2 - 11 1474 c.1069G>A c.(1069-1071)GAG>AAG p.E357K OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.E357K|OSBPL3_uc003sxh.2_Missense_Mutation_p.E326K|OSBPL3_uc003sxi.2_Missense_Mutation_p.E326K|OSBPL3_uc003sxj.1_Missense_Mutation_p.E122K|OSBPL3_uc003sxk.1_Missense_Mutation_p.E91K NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN oxysterol-binding protein-like protein 3 isoform 357 lipid transport lipid binding|protein binding skin(1) 1 TTCTCTCTCTCCGCTGACATG 0.408 PCLO 27445 broad.mit.edu 37 7 82544081 82544081 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr7:82544081T>G uc003uhx.2 - 7 13510 c.13221A>C c.(13219-13221)GAA>GAC p.E4407D PCLO_uc003uhv.2_Missense_Mutation_p.E4407D|PCLO_uc010lec.2_Missense_Mutation_p.E1372D NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4338 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TCCGTGATTCTTCCCTCATGT 0.507 SAMD9L 219285 broad.mit.edu 37 7 92763852 92763852 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr7:92763852G>T uc003umh.1 - 5 2649 c.1433C>A c.(1432-1434)ACT>AAT p.T478N SAMD9L_uc003umj.1_Missense_Mutation_p.T478N|SAMD9L_uc003umi.1_Missense_Mutation_p.T478N|SAMD9L_uc010lfb.1_Missense_Mutation_p.T478N|SAMD9L_uc003umk.1_Missense_Mutation_p.T478N|SAMD9L_uc010lfc.1_Missense_Mutation_p.T478N|SAMD9L_uc010lfd.1_Missense_Mutation_p.T478N|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 478 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CCACATGTTAGTTGTCTTGTC 0.408 DENND2A 27147 broad.mit.edu 37 7 140285420 140285420 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr7:140285420G>A uc010lnj.2 - 3 1359 c.1214C>T c.(1213-1215)CCC>CTC p.P405L DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.P405L|DENND2A_uc003vvw.2_Missense_Mutation_p.P405L|DENND2A_uc003vvx.2_Missense_Mutation_p.P405L NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 405 ovary(3)|breast(1) 4 Melanoma(164;0.00956) GGAAGAGGTGGGAGAAGCAGG 0.527 OR9A2 135924 broad.mit.edu 37 7 142723354 142723354 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr7:142723354C>T uc003wcc.1 - 1 866 c.866G>A c.(865-867)CGG>CAG p.R289Q NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, 289 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.059) TTTGTCATTCCGAAGAGTAAA 0.448 CASP2 835 broad.mit.edu 37 7 143001810 143001810 + Silent SNP C C T rs142190608 byFrequency TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr7:143001810C>T uc003wco.2 + 10 1308 c.1161C>T c.(1159-1161)ATC>ATT p.I387I CASP2_uc003wcp.2_3'UTR|CASP2_uc011kta.1_Silent_p.I271I|CASP2_uc003wcq.2_RNA|CASP2_uc011ktb.1_Silent_p.I137I NM_032982 NP_116764 P42575 CASP2_HUMAN caspase 2 isoform 1 preproprotein 387 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding lung(2)|ovary(1) 3 Melanoma(164;0.059) CCTGGTACATCGAGGCTCTTG 0.557 CSMD1 64478 broad.mit.edu 37 8 2967856 2967856 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr8:2967856G>A uc011kwk.1 - 43 6825 c.6435C>T c.(6433-6435)GCC>GCT p.A2145A CSMD1_uc011kwj.1_Silent_p.A1537A|CSMD1_uc010lrg.2_Silent_p.A213A NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2145 Extracellular (Potential).|Sushi 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACCCACAAGGGGCTGCAAAGG 0.453 GATA4 2626 broad.mit.edu 37 8 11614478 11614478 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr8:11614478C>T uc003wuc.2 + 6 1586 c.1032C>T c.(1030-1032)AGC>AGT p.S344S GATA4_uc003wub.1_Silent_p.S138S|GATA4_uc011kxc.1_Silent_p.S345S NM_002052 NP_002043 P43694 GATA4_HUMAN GATA binding protein 4 344 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) CTCCCGCCAGCGGTGCTTCCA 0.617 KCNU1 157855 broad.mit.edu 37 8 36763262 36763262 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr8:36763262G>T uc010lvw.2 + 20 2133 c.2046G>T c.(2044-2046)CAG>CAT p.Q682H KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 682 Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ATTCTGACCAGCTTGATAGCA 0.413 PLAT 5327 broad.mit.edu 37 8 42036423 42036423 + Missense_Mutation SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr8:42036423C>T uc003xos.2 - 13 1731 c.1522G>A c.(1522-1524)GCC>ACC p.A508T PLAT_uc010lxf.1_Missense_Mutation_p.A425T|PLAT_uc010lxg.1_Missense_Mutation_p.A333T|PLAT_uc003xot.2_Missense_Mutation_p.A462T|PLAT_uc011lcm.1_Missense_Mutation_p.A419T|PLAT_uc011lcn.1_Missense_Mutation_p.A382T NM_000930 NP_000921 P00750 TPA_HUMAN plasminogen activator, tissue isoform 1 508 Peptidase S1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|skin(1) 2 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) ACCTGGCAGGCGTCGTGCAAG 0.567 ZFHX4 79776 broad.mit.edu 37 8 77767332 77767332 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr8:77767332G>T uc003yav.2 + 10 8427 c.8040G>T c.(8038-8040)CAG>CAT p.Q2680H ZFHX4_uc003yau.1_Missense_Mutation_p.Q2725H|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q2680H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2680 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) AAAGCCCACAGAAATACATCT 0.428 HNSCC(33;0.089) INTS8 55656 broad.mit.edu 37 8 95839622 95839622 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr8:95839622A>G uc003yhb.2 + 3 563 c.437A>G c.(436-438)TAT>TGT p.Y146C INTS8_uc003yha.1_Missense_Mutation_p.Y146C|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_5'Flank NM_017864 NP_060334 Q75QN2 INT8_HUMAN integrator complex subunit 8 146 snRNA processing integrator complex protein binding 0 Breast(36;1.05e-06) GTACTTCTCTATAATAGATGG 0.423 RIMS2 9699 broad.mit.edu 37 8 104987701 104987701 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr8:104987701G>T uc003yls.2 + 14 2469 c.2228G>T c.(2227-2229)AGA>ATA p.R743I RIMS2_uc003ylp.2_Missense_Mutation_p.R965I|RIMS2_uc003ylw.2_Missense_Mutation_p.R757I|RIMS2_uc003ylq.2_Missense_Mutation_p.R757I|RIMS2_uc003ylr.2_Missense_Mutation_p.R804I|RIMS2_uc003ylt.2_Missense_Mutation_p.R350I NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1027 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) GGAAGGACTAGATCATGGTCA 0.363 HNSCC(12;0.0054) DPYS 1807 broad.mit.edu 37 8 105436539 105436539 + Silent SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr8:105436539T>G uc003yly.3 - 7 1300 c.1171A>C c.(1171-1173)AGA>CGA p.R391R NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 391 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTTCCTTTTCTTGGATAGAGA 0.373 LRP12 29967 broad.mit.edu 37 8 105509626 105509626 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr8:105509626T>G uc003yma.2 - 5 1249 c.1154A>C c.(1153-1155)AAC>ACC p.N385T LRP12_uc003ymb.2_Missense_Mutation_p.N366T|LRP12_uc003ylz.2_5'Flank NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 385 Extracellular (Potential).|LDL-receptor class A 3. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) ACACCCCCAGTTACCTCCACA 0.443 EXT1 2131 broad.mit.edu 37 8 118819534 118819534 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr8:118819534G>A uc003yok.1 - 9 2578 c.1805C>T c.(1804-1806)TCT>TTT p.S602F NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 602 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) CCGCTCCTTAGAGTTATCCCA 0.537 Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome TG 7038 broad.mit.edu 37 8 134107329 134107329 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr8:134107329G>T uc003ytw.2 + 42 7322 c.7281G>T c.(7279-7281)GAG>GAT p.E2427D TG_uc010mdw.2_Missense_Mutation_p.E1186D|TG_uc011ljb.1_Missense_Mutation_p.E796D|TG_uc011ljc.1_Missense_Mutation_p.E560D|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2427 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCAGCCATGAGAGGGCTCAGC 0.602 GLIS3 169792 broad.mit.edu 37 9 4286252 4286252 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr9:4286252G>A uc003zhx.1 - 2 887 c.174C>T c.(172-174)CTC>CTT p.L58L GLIS3_uc003zic.1_Silent_p.L58L|GLIS3_uc003zie.1_Silent_p.L58L|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_5'UTR|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_5'UTR|GLIS3_uc003zig.1_Intron|GLIS3_uc003zih.1_Intron|GLIS3_uc003zii.1_Silent_p.L58L NM_001042413 NP_001035878 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) TCTTGAGATGGAGGTTGTTAG 0.592 RANBP6 26953 broad.mit.edu 37 9 6014769 6014769 + Missense_Mutation SNP C C G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr9:6014769C>G uc003zjr.2 - 1 850 c.839G>C c.(838-840)AGT>ACT p.S280T RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 280 protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) CTGCAGATTACTAAGCCTAGA 0.423 DNM1 1759 broad.mit.edu 37 9 131010944 131010944 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr9:131010944G>A uc011mau.1 + 19 2075 c.1988G>A c.(1987-1989)CGG>CAG p.R663Q DNM1_uc011mat.1_Missense_Mutation_p.R663Q|DNM1_uc004bub.1_Missense_Mutation_p.R36Q|DNM1_uc004buc.1_Missense_Mutation_p.R130Q|DNM1_uc004bud.3_RNA NM_004408 NP_004399 Q05193 DYN1_HUMAN dynamin 1 isoform 1 663 GED. receptor-mediated endocytosis microtubule GTP binding|GTPase activity ovary(2) 2 GAGACCATCCGGAATCTTGTG 0.537 NLGN4X 57502 broad.mit.edu 37 X 5811502 5811502 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chrX:5811502T>C uc010ndh.2 - 6 2308 c.1807A>G c.(1807-1809)ATA>GTA p.I603V NLGN4X_uc004crp.2_Missense_Mutation_p.I623V|NLGN4X_uc004crq.2_Missense_Mutation_p.I603V|NLGN4X_uc010ndi.2_Missense_Mutation_p.I640V|NLGN4X_uc004crr.2_Missense_Mutation_p.I603V|NLGN4X_uc010ndj.2_Missense_Mutation_p.I603V NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 603 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TACTGGAATATCTCGTTCAAG 0.488 MAP3K15 389840 broad.mit.edu 37 X 19431478 19431478 + Missense_Mutation SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chrX:19431478T>C uc004czk.1 - 11 1659 c.22A>G c.(22-24)AAT>GAT p.N8D MAP3K15_uc004czj.1_5'UTR NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase Error:Variant_position_missing_in_Q6ZN16_after_alignment ATP binding|MAP kinase kinase kinase activity|metal ion binding ovary(3)|lung(2)|stomach(1)|skin(1) 7 Hepatocellular(33;0.183) TCCTTACCATTTCTGTGGGTG 0.393 MAGEB18 286514 broad.mit.edu 37 X 26157428 26157428 + Missense_Mutation SNP A A G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chrX:26157428A>G uc004dbq.1 + 2 513 c.326A>G c.(325-327)AAG>AGG p.K109R NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 109 MAGE. protein binding central_nervous_system(1) 1 CCTTTAAACAAGAAAGTAGTG 0.418 MAGEB6 158809 broad.mit.edu 37 X 26212528 26212528 + Missense_Mutation SNP C C T rs142927857 TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chrX:26212528C>T uc004dbr.2 + 2 714 c.565C>T c.(565-567)CGC>TGC p.R189C MAGEB6_uc010ngc.1_5'UTR NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 189 ovary(3) 3 CATTTTTAAGCGCTTAAGCAA 0.468 DCAF8L1 139425 broad.mit.edu 37 X 27998645 27998645 + Silent SNP T T C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chrX:27998645T>C uc004dbx.1 - 1 922 c.807A>G c.(805-807)GAA>GAG p.E269E NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 269 WD 2. ovary(3)|skin(1) 4 CATTAATTAGTTCTGCTACCC 0.493 MAGEB2 4113 broad.mit.edu 37 X 30237209 30237209 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chrX:30237209T>G uc004dbz.2 + 2 615 c.512T>G c.(511-513)GTC>GGC p.V171G NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 171 MAGE. protein binding ovary(1) 1 CTGAATAAAGTCAACCCCAAC 0.502 DMD 1756 broad.mit.edu 37 X 31893328 31893328 + Missense_Mutation SNP G G T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chrX:31893328G>T uc004dda.1 - 48 7319 c.7075C>A c.(7075-7077)CAA>AAA p.Q2359K DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.Q1015K|DMD_uc004dcx.2_Missense_Mutation_p.Q1018K|DMD_uc004dcz.2_Missense_Mutation_p.Q2236K|DMD_uc004dcy.1_Missense_Mutation_p.Q2355K|DMD_uc004ddb.1_Missense_Mutation_p.Q2351K|DMD_uc010ngn.1_RNA NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2359 Missing (in DMD). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GGTCCTTCTTGGTTTGGTTGG 0.333 MAGEB16 139604 broad.mit.edu 37 X 35820607 35820607 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chrX:35820607C>T uc010ngt.1 + 2 573 c.294C>T c.(292-294)TCC>TCT p.S98S NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 98 lung(3)|ovary(2)|breast(1)|skin(1) 7 GTCCAAGCTCCTCAGAGGATA 0.478 BCOR 54880 broad.mit.edu 37 X 39933151 39933151 + Missense_Mutation SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chrX:39933151G>A uc004den.3 - 4 1740 c.1448C>T c.(1447-1449)CCG>CTG p.P483L BCOR_uc004dep.3_Missense_Mutation_p.P483L|BCOR_uc004deo.3_Missense_Mutation_p.P483L|BCOR_uc004dem.3_Missense_Mutation_p.P483L|BCOR_uc004deq.3_Missense_Mutation_p.P483L NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 483 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 TGTTTCTTTCGGAATCTCACT 0.517 CHST7 56548 broad.mit.edu 37 X 46433819 46433819 + Silent SNP C C T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chrX:46433819C>T uc004dgt.2 + 1 628 c.453C>T c.(451-453)GGC>GGT p.G151G NM_019886 NP_063939 Q9NS84 CHST7_HUMAN chondroitin 6-sulfotransferase 7 151 Lumenal (Potential). chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity breast(3) 3 GCTTGCAGGGCGCGCTGCGCG 0.507 EBP 10682 broad.mit.edu 37 X 48386665 48386665 + Silent SNP C C T rs147786080 TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chrX:48386665C>T uc004djx.3 + 5 718 c.513C>T c.(511-513)CGC>CGT p.R171R EBP_uc004djy.3_Silent_p.R171R|EBP_uc004djz.2_Silent_p.R171R NM_006579 NP_006570 Q15125 EBP_HUMAN emopamil binding protein (sterol isomerase) 171 cholesterol biosynthetic process|skeletal system development endoplasmic reticulum membrane|integral to plasma membrane cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity ovary(1) 1 CAGAGCACCGCGACGGATTCC 0.582 PRICKLE3 4007 broad.mit.edu 37 X 49032238 49032238 + Silent SNP A A C TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chrX:49032238A>C uc004dmy.1 - 9 1658 c.1632T>G c.(1630-1632)TCT>TCG p.S544S PRICKLE3_uc011mmv.1_Silent_p.S476S|PRICKLE3_uc011mmw.1_Silent_p.S463S|PRICKLE3_uc011mmx.1_Silent_p.S506S NM_006150 NP_006141 O43900 PRIC3_HUMAN LIM domain only 6 544 Poly-Ser. protein binding|zinc ion binding breast(1) 1 AGCTGGAGCAAGATTCCGAGT 0.502 ITIH5L 347365 broad.mit.edu 37 X 54785377 54785377 + Missense_Mutation SNP T T G TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chrX:54785377T>G uc004dtj.2 - 8 1160 c.1130A>C c.(1129-1131)AAC>ACC p.N377T NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 377 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 AGGCTCCTGGTTGCTATGGTT 0.577 OGT 8473 broad.mit.edu 37 X 70767789 70767789 + Silent SNP G G A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chrX:70767789G>A uc004eaa.1 + 5 781 c.564G>A c.(562-564)CCG>CCA p.P188P BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Silent_p.P178P|OGT_uc004eac.2_Silent_p.P49P|OGT_uc004ead.2_5'UTR NM_181672 NP_858058 O15294 OGT1_HUMAN O-linked GlcNAc transferase isoform 1 188 TPR 4. cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity ovary(3)|kidney(1)|pancreas(1) 5 Renal(35;0.156) AGACGCAACCGAACTTTGCAG 0.393 IL1RAPL2 26280 broad.mit.edu 37 X 104478507 104478507 + Nonsense_Mutation SNP C C A TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chrX:104478507C>A uc004elz.1 + 4 1118 c.362C>A c.(361-363)TCA>TAA p.S121* NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 121 Ig-like C2-type 1.|Extracellular (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 TACAGAAACTCAACATATTGC 0.373 IFT88 8100 broad.mit.edu 37 13 21217687 21217689 + In_Frame_Del DEL AGG AGG - TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr13:21217687_21217689delAGG uc001unh.2 + 21 2199_2201 c.1803_1805delAGG c.(1801-1806)CTAGGA>CTA p.G602del IFT88_uc001uni.2_In_Frame_Del_p.G593del|IFT88_uc001unj.2_In_Frame_Del_p.G592del|IFT88_uc010tcq.1_In_Frame_Del_p.G573del NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 602 TPR 10. cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) TATCTAAGCTAGGAGAATTATAT 0.345 APC 324 broad.mit.edu 37 5 112175676 112175677 + Frame_Shift_Ins INS - - AG rs121913334 TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr5:112175675_112175676A>AAG uc003kpz.4 + 16 4577_4578 c.4384_4385A>AAG c.(4384-4386)aagfs p.K1462fs APC_uc011cvt.2_Frame_Shift_Ins_p.K1444fs|APC_uc003kpy.4_Frame_Shift_Ins_p.K1462fs|APC_uc010jbz.3_Frame_Shift_Ins_p.K1179fs|APC_uc010jca.3_Frame_Shift_Ins_p.K762fs NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 1462 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.S1465fs*3(16)|p.K1462fs*6(5)|p.E1461*(3)|p.K1462fs*5(2)|p.K1462fs*10(2)|p.?(1)|p.K1454fs*3(1)|p.K1192fs*3(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TACTGCTGAAAAGAGAGAGAGT 0.450 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) HIST1H2AD 3013 broad.mit.edu 37 6 26199356 26199357 + Frame_Shift_Ins INS - - T TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr6:26199355_26199356G>GT uc003ngw.3 - 0 116_117 c.116_117C>AC c.(115-117)aacfs p.N39fs HIST1H3D_uc003ngv.3_5'UTR|HIST1H3D_uc021ymt.1_5'Flank|HIST1H2BF_uc003ngx.3_5'Flank NM_021065 NP_066409 P20671 H2A1D_HUMAN Homo sapiens histone cluster 1, H2ad (HIST1H2AD), mRNA. 39 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 all_hematologic(11;0.196) GCTCGGAGTAGTTGCCCTTGCG 0.688 RAB5B 5869 broad.mit.edu 37 12 56384549 56384549 + Frame_Shift_Del DEL C C - TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr12:56384548_56384548AC>A uc001siv.3 + 3 578 c.398_398AC>A c.(397-399)aacfs p.N133fs RAB5B_uc001siw.3_Frame_Shift_Del_p.N133fs|RAB5B_uc010spz.2_Intron|RAB5B_uc009zog.3_Frame_Shift_Del_p.N73fs NM_001252036 NP_001238965 P61020 RAB5B_HUMAN Homo sapiens RAB5B, member RAS oncogene family (RAB5B), transcript variant 2, mRNA. 133 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|membrane fraction|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity p.G132G(1) endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1) 9 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235) CTGGCAGGGAACAAAGCTGAC 0.502 TP53 7157 broad.mit.edu 37 17 7579585 7579585 + Frame_Shift_Del DEL G G - TCGA-HU-8604-01A-11D-2394-08 TCGA-HU-8604-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ffbf151-e573-440e-8950-6f3404f84402 61ee42d5-0a9d-4c64-a20a-93bfcdba7a11 g.chr17:7579584_7579584AG>A uc002gim.2 - 3 297 c.103_103CT>T c.(103-105)ttgfs p.L35fs TP53_uc002gig.1_Frame_Shift_Del_p.L35fs|TP53_uc002gih.3_Frame_Shift_Del_p.L35fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Frame_Shift_Del_p.L35fs|TP53_uc010cnh.1_Frame_Shift_Del_p.L35fs|TP53_uc002gij.2_Frame_Shift_Del_p.L35fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_5'UTR|TP53_uc010cnk.1_Frame_Shift_Del_p.L50fs NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 35 Interaction with HRMT1L2.|Transcription activation (acidic). L -> F (in sporadic cancers; somatic mutation). 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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.L35fs*9(4)|p.L35F(3)|p.L35fs*8(2)|p.P34L(2)|p.L35fs*10(1)|p.?(1)|p.S33fs*23(1)|p.P34fs*8(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*6(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGGGACGGCAAGGGGGACTGT 0.597 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)