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 CAMTA1 23261 broad.mit.edu 37 1 7725097 7725097 + Silent SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr1:7725097C>T uc001aoi.2 + 9 2697 c.2490C>T c.(2488-2490)AGC>AGT p.S830S NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 830 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) AGCAGGGTAGCCTGCAGCTGA 0.716000 RSPO1 284654 broad.mit.edu 37 1 38082187 38082187 + Silent SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr1:38082187G>A uc001cbl.1 - 5 1043 c.255C>T c.(253-255)GAC>GAT p.D85D RSPO1_uc001cbm.1_Silent_p.D85D|RSPO1_uc009vvf.1_Silent_p.D58D|RSPO1_uc009vvg.1_Silent_p.D85D NM_001038633 NP_001033722 Q2MKA7 RSPO1_HUMAN R-spondin1 precursor 85 FU 1. positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGTTGCGGGCGTCGAAGTATC 0.612000 SLC2A1 6513 broad.mit.edu 37 1 43396861 43396861 + Missense_Mutation SNP T T C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr1:43396861T>C uc001cik.2 - 3 656 c.131A>G c.(130-132)TAC>TGC p.Y44C NM_006516 NP_006507 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose 44 Extracellular (Potential). carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(2)|pancreas(2)|ovary(1) 5 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) TGTCTGGTTGTAGAACTCCTC 0.607000 OREG0013425 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) LRRC7 57554 broad.mit.edu 37 1 70504365 70504365 + Missense_Mutation SNP G G A rs141932871 TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr1:70504365G>A uc001dep.2 + 19 2774 c.2744G>A c.(2743-2745)CGC>CAC p.R915H LRRC7_uc009wbg.2_Missense_Mutation_p.R199H|LRRC7_uc001deq.2_Missense_Mutation_p.R156H NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 915 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 ATCCACTGCCGCCCGGAATCT 0.403000 COL11A1 1301 broad.mit.edu 37 1 103484413 103484413 + Silent SNP A A T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr1:103484413A>T uc001dul.2 - 10 1629 c.1311T>A c.(1309-1311)GGT>GGA p.G437G COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.G449G|COL11A1_uc001dun.2_Silent_p.G398G|COL11A1_uc009weh.2_Silent_p.G321G NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 437 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CGACAAGCATACCCTATAACA 0.328000 IGSF9 57549 broad.mit.edu 37 1 159912835 159912835 + Silent SNP G G A rs143816509 TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr1:159912835G>A uc001fur.2 - 3 363 c.165C>T c.(163-165)ATC>ATT p.I55I IGSF9_uc001fuq.2_Silent_p.I55I NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 55 Ig-like 1.|Extracellular (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GCAGCCACTCGATGACATGCA 0.517000 CACNA1E 777 broad.mit.edu 37 1 181767666 181767666 + Missense_Mutation SNP C C A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr1:181767666C>A uc001gow.2 + 47 6674 c.6509C>A c.(6508-6510)TCT>TAT p.S2170Y CACNA1E_uc009wxs.2_Missense_Mutation_p.S2058Y|CACNA1E_uc009wxt.2_Missense_Mutation_p.S1439Y NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 2213 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TCTTCCAACTCTCCGCACCCC 0.622000 HMCN1 83872 broad.mit.edu 37 1 185946997 185946997 + Missense_Mutation SNP A A G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr1:185946997A>G uc001grq.1 + 16 2679 c.2450A>G c.(2449-2451)CAG>CGG p.Q817R HMCN1_uc001grr.1_Missense_Mutation_p.Q158R NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 817 Ig-like C2-type 5. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TGTTATGTTCAGGGTTATCCA 0.393000 KCNH1 3756 broad.mit.edu 37 1 211093223 211093223 + Silent SNP G G A rs138866428 TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr1:211093223G>A uc001hib.2 - 7 1391 c.1221C>T c.(1219-1221)GAC>GAT p.D407D KCNH1_uc001hic.2_Silent_p.D380D NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 407 Extracellular (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TGGTGTCCTCGTCAAAGATCT 0.547000 FRMD4A 55691 broad.mit.edu 37 10 13698676 13698676 + Silent SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr10:13698676G>A uc001ims.2 - 22 3265 c.2913C>T c.(2911-2913)AGC>AGT p.S971S FRMD4A_uc009xjf.1_Silent_p.S971S NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 971 Ser-rich. cytoplasm|cytoskeleton binding ovary(1)|skin(1)|pancreas(1) 3 TGGTGACCCTGCTGTGCGCCA 0.672000 OR9Q2 219957 broad.mit.edu 37 11 57958374 57958374 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr11:57958374G>A uc010rka.1 + 1 412 c.412G>A c.(412-414)GAG>AAG p.E138K NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) CATCATAACCGAGAAGGCCCG 0.547000 TMEM138 51524 broad.mit.edu 37 11 61133663 61133663 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr11:61133663G>A uc001nrl.1 + 3 451 c.275G>A c.(274-276)AGC>AAC p.S92N TMEM138_uc010rli.1_Missense_Mutation_p.S92N|TMEM138_uc001nrm.2_Missense_Mutation_p.S92N NM_016464 NP_057548 Q9NPI0 TM138_HUMAN transmembrane protein 138 92 Helical; (Potential). integral to membrane 0 TTTGCCCTCAGCATCTCCCTT 0.363000 MAP3K11 4296 broad.mit.edu 37 11 65375465 65375465 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr11:65375465C>T uc001oew.2 - 3 1490 c.997G>A c.(997-999)GGC>AGC p.G333S MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Missense_Mutation_p.G76S|MAP3K11_uc001oex.1_5'UTR NM_002419 NP_002410 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 333 Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|lung(1)|central_nervous_system(1)|skin(1) 6 ACAGCTACGCCATAGGCCACA 0.607000 MMP10 4319 broad.mit.edu 37 11 102643648 102643648 + Missense_Mutation SNP T T C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr11:102643648T>C uc001phg.1 - 8 1178 c.1156A>G c.(1156-1158)AAA>GAA p.K386E NM_002425 NP_002416 P09238 MMP10_HUMAN matrix metalloproteinase 10 preproprotein 386 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding kidney(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) GCATCAATTTTCCTTATGGTT 0.413000 KIAA1826 84437 broad.mit.edu 37 11 105880559 105880559 + Missense_Mutation SNP A A C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr11:105880559A>C uc001piy.2 - 3 914 c.741T>G c.(739-741)CAT>CAG p.H247Q KIAA1826_uc001piz.2_Missense_Mutation_p.H247Q NM_032424 NP_115800 Q8NCY6 K1826_HUMAN hypothetical protein LOC84437 247 Potential. nucleus breast(1) 1 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309) GAAGCCGCTCATGTTCCATGT 0.468000 KRT2 3849 broad.mit.edu 37 12 53045826 53045826 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr12:53045826C>T uc001sat.2 - 1 134 c.101G>A c.(100-102)CGG>CAG p.R34Q NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 34 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) AGTTGATCTCCGGCTTCCACC 0.517000 ANKS1B 56899 broad.mit.edu 37 12 100200338 100200338 + Silent SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr12:100200338G>A uc001tge.1 - 4 930 c.513C>T c.(511-513)TAC>TAT p.Y171Y ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Silent_p.Y171Y NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 171 ANK 5. Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TAAGCCGTCCGTAGAGTGCCG 0.488000 FZD10 11211 broad.mit.edu 37 12 130647618 130647618 + Missense_Mutation SNP A A G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr12:130647618A>G uc001uii.2 + 1 587 c.131A>G c.(130-132)GAC>GGC p.D44G uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 44 FZ.|Extracellular (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) ATGTGCAAGGACATCGGCTAC 0.632000 CCNA1 8900 broad.mit.edu 37 13 37006834 37006834 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr13:37006834G>A uc001uvr.3 + 1 426 c.76G>A c.(76-78)GAA>AAA p.E26K CCNA1_uc010teo.1_Intron|CCNA1_uc010abq.2_Intron|CCNA1_uc010abp.2_Intron|CCNA1_uc001uvs.3_Missense_Mutation_p.E26K|CCNA1_uc010abr.2_RNA NM_003914 NP_003905 P78396 CCNA1_HUMAN cyclin A1 isoform a 26 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding lung(2)|skin(2)|ovary(1) 5 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) TCTCAGCTGGGAAGGACCGGG 0.552000 OXGR1 27199 broad.mit.edu 37 13 97639925 97639925 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr13:97639925G>A uc001vmx.1 - 4 333 c.89C>T c.(88-90)CCA>CTA p.P30L OXGR1_uc010afr.1_Missense_Mutation_p.P30L NM_080818 NP_543008 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 30 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) CATCTTGAGTGGGATGTTTTC 0.408000 CCDC102A 92922 broad.mit.edu 37 16 57552022 57552022 + Silent SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr16:57552022G>A uc002elw.2 - 6 1419 c.1206C>T c.(1204-1206)TGC>TGT p.C402C NM_033212 NP_149989 Q96A19 C102A_HUMAN coiled-coil domain containing 102A 402 ovary(1) 1 CCCTCAGGTCGCAGTCCAGTG 0.687000 COX4NB 10328 broad.mit.edu 37 16 85813362 85813362 + Silent SNP A A G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr16:85813362A>G uc002fjd.2 - 5 832 c.585T>C c.(583-585)AAT>AAC p.N195N COX4NB_uc010vol.1_3'UTR NM_006067 NP_006058 O43402 CX4NB_HUMAN COX4 neighbor isoform 1 195 mitochondrion|nucleus 0 TTGTCCAGTCATTCCGAATGT 0.547000 MAP2K4 6416 broad.mit.edu 37 17 11984671 11984671 + Splice_Site SNP A A G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr17:11984671A>G uc002gnj.2 + 3 288 c.219_splice c.e3-2 p.I73_splice MAP2K4_uc002gnk.2_Splice_Site_p.I84_splice|MAP2K4_uc010vvi.1_Splice_Site|MAP2K4_uc010vvj.1_Intron|MIR744_hsa-mir-744|MI0005559_5'Flank NM_003010 NP_003001 P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1) 58 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) ATATTTTAACAGAGAGAGACT 0.353000 D|Mis|N pancreatic|breast|colorectal KRT28 162605 broad.mit.edu 37 17 38953169 38953169 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr17:38953169G>A uc002hvh.1 - 5 1043 c.977C>T c.(976-978)ACG>ATG p.T326M NM_181535 NP_853513 Q7Z3Y7 K1C28_HUMAN keratin 25D 326 Rod.|Coil 2. cytoplasm|intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) GTCACCTACCGTGGCCATCAG 0.572000 LPO 4025 broad.mit.edu 37 17 56326514 56326514 + Missense_Mutation SNP C C G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr17:56326514C>G uc002ivt.2 + 5 735 c.419C>G c.(418-420)ACC>AGC p.T140S LPO_uc010dco.2_Missense_Mutation_p.T140S|LPO_uc010wnr.1_Missense_Mutation_p.T57S|LPO_uc010wns.1_Missense_Mutation_p.T81S|LPO_uc010dcp.2_Missense_Mutation_p.T57S|LPO_uc010dcq.2_5'UTR NM_006151 NP_006142 P22079 PERL_HUMAN lactoperoxidase isoform 1 preproprotein 140 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|breast(1) 2 CCTTACCGCACCATTACGGGA 0.637000 C17orf71 55181 broad.mit.edu 37 17 57290373 57290373 + Missense_Mutation SNP C C A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr17:57290373C>A uc002ixi.2 + 3 2231 c.2189C>A c.(2188-2190)ACT>AAT p.T730N NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 730 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) GAAGTGAAAACTGAGAAGAGG 0.458000 DLGAP1 9229 broad.mit.edu 37 18 3729181 3729181 + Silent SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr18:3729181C>T uc002kmf.2 - 4 1612 c.1545G>A c.(1543-1545)TCG>TCA p.S515S DLGAP1_uc010wyz.1_Silent_p.S515S|DLGAP1_uc002kme.1_Silent_p.S213S|DLGAP1_uc010dkn.2_Silent_p.S213S|DLGAP1_uc010wyw.1_Silent_p.S221S|DLGAP1_uc010wyx.1_Silent_p.S227S|DLGAP1_uc010wyy.1_Silent_p.S227S|DLGAP1_uc002kmg.2_Silent_p.S213S|DLGAP1_uc002kmk.2_Silent_p.S515S NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 515 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) TGCGCGGCGGCGAGGACGACC 0.677000 APC2 10297 broad.mit.edu 37 19 1466023 1466023 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr19:1466023G>A uc002lsr.1 + 15 2931 c.2723G>A c.(2722-2724)CGG>CAG p.R908Q APC2_uc002lss.1_Missense_Mutation_p.R490Q|APC2_uc002lst.1_Missense_Mutation_p.R908Q|APC2_uc002lsu.1_Missense_Mutation_p.R907Q|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 908 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGGAAGCCGGGCGCACCCG 0.741000 CACNA1A 773 broad.mit.edu 37 19 13409734 13409734 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr19:13409734C>T uc010dze.2 - 19 2952 c.2716G>A c.(2716-2718)GCC>ACC p.A906T CACNA1A_uc010dzc.2_Missense_Mutation_p.A431T|CACNA1A_uc002mwy.3_Missense_Mutation_p.A905T|CACNA1A_uc010xne.1_Missense_Mutation_p.A434T NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 906 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CCCTCCCGGGCGTGGTGGTCC 0.776000 YIF1B 90522 broad.mit.edu 37 19 38799964 38799964 + Missense_Mutation SNP T T A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr19:38799964T>A uc002ohz.2 - 3 351 c.302A>T c.(301-303)GAC>GTC p.D101V YIF1B_uc002ohw.2_Missense_Mutation_p.D70V|YIF1B_uc002ohx.2_Missense_Mutation_p.D86V|YIF1B_uc010xtx.1_Missense_Mutation_p.D84V|YIF1B_uc010xty.1_Missense_Mutation_p.D70V|YIF1B_uc002oia.2_Missense_Mutation_p.D98V|YIF1B_uc002ohy.2_Missense_Mutation_p.D98V|YIF1B_uc002oib.2_Missense_Mutation_p.D98V NM_001039672 NP_001034761 Q5BJH7 YIF1B_HUMAN Yip1 interacting factor homolog B isoform 5 101 Cytoplasmic (Potential). integral to membrane 0 all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GATGAAGCGGTCGATCTGGGG 0.587000 KCNF1 3754 broad.mit.edu 37 2 11053671 11053671 + Silent SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr2:11053671C>T uc002rax.2 + 1 1609 c.1119C>T c.(1117-1119)TAC>TAT p.Y373Y NM_002236 NP_002227 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, 373 Selectivity filter (By similarity). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) CCGTCGGCTACGGCGACATCT 0.602000 QPCT 25797 broad.mit.edu 37 2 37586990 37586990 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr2:37586990C>T uc002rqg.2 + 3 657 c.535C>T c.(535-537)CTT>TTT p.L179F QPCT_uc002rqh.2_Missense_Mutation_p.L130F NM_012413 NP_036545 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase precursor 179 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1) 1 Ovarian(717;0.051)|all_hematologic(82;0.21) CAAGAAACTCCTTTCCTTAAA 0.413000 NEB 4703 broad.mit.edu 37 2 152404896 152404896 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr2:152404896C>T uc010fnx.2 - 103 15171 c.14980G>A c.(14980-14982)GCA>ACA p.A4994T NEB_uc002txr.2_Missense_Mutation_p.A1417T NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 4994 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TACCCATATGCCTTGGTGTGT 0.433000 TTN 7273 broad.mit.edu 37 2 179622343 179622343 + Missense_Mutation SNP C C A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr2:179622343C>A uc010zfi.1 - 44 10690 c.10466G>T c.(10465-10467)GGG>GTG p.G3489V TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron NM_133432 NP_597676 Q8WZ42 TITIN_HUMAN titin isoform novex-1 3571 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) AGAGTACTGCCCAGCATGCTC 0.458000 CPXM1 56265 broad.mit.edu 37 20 2774876 2774876 + Missense_Mutation SNP A A C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr20:2774876A>C uc002wgu.2 - 14 2229 c.2165T>G c.(2164-2166)CTT>CGT p.L722R CPXM1_uc010gas.2_Missense_Mutation_p.L648R NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN carboxypeptidase X, member 1 precursor 722 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding ovary(2)|skin(2) 4 GCGCCTGCGAAGGTCCGGGGG 0.617000 NAA20 51126 broad.mit.edu 37 20 20013784 20013784 + Missense_Mutation SNP T T C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr20:20013784T>C uc002wrp.2 + 6 594 c.490T>C c.(490-492)TCC>CCC p.S164P NAA20_uc002wrq.2_3'UTR|NAA20_uc002wrr.2_Missense_Mutation_p.S152P NM_016100 NP_057184 P61599 NAA20_HUMAN N-acetyltransferase 5 isoform a 164 cytoplasm|nucleus peptide alpha-N-acetyltransferase activity 0 TGAGAAGAAATCCATCATACC 0.363000 NDRG3 57446 broad.mit.edu 37 20 35317165 35317165 + Missense_Mutation SNP T T C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr20:35317165T>C uc002xfw.2 - 4 198 c.116A>G c.(115-117)CAT>CGT p.H39R NDRG3_uc002xfx.2_Missense_Mutation_p.H27R|NDRG3_uc010zvq.1_Intron|NDRG3_uc010zvr.1_Intron NM_032013 NP_114402 Q9UGV2 NDRG3_HUMAN N-myc downstream regulated gene 3 isoform a 39 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm ovary(1) 1 Myeloproliferative disorder(115;0.00878) GACCACACCATGAGTTGTTTC 0.378000 WISP2 8839 broad.mit.edu 37 20 43355838 43355838 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr20:43355838C>T uc002xmn.2 + 5 996 c.643C>T c.(643-645)CGG>TGG p.R215W uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmp.2_Missense_Mutation_p.R215W|WISP2_uc002xmq.2_Silent_p.P132P NM_003881 NP_003872 O76076 WISP2_HUMAN WNT1 inducible signaling pathway protein 2 215 TSP type-1. cell adhesion|cell-cell signaling|signal transduction extracellular region|soluble fraction insulin-like growth factor binding skin(1) 1 Myeloproliferative disorder(115;0.0122) CATGGCCACCCGGGTGTCCAA 0.677000 SAMSN1 64092 broad.mit.edu 37 21 15893509 15893509 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr21:15893509G>A uc002yju.1 - 2 173 c.91C>T c.(91-93)CGG>TGG p.R31W SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.R99W NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization 31 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding ovary(3)|pancreas(1) 4 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) GAATTATTCCGAAAACGATCG 0.299000 SMARCB1 6598 broad.mit.edu 37 22 24167535 24167535 + Missense_Mutation SNP T T G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr22:24167535T>G uc002zyb.2 + 7 1126 c.919T>G c.(919-921)TTT>GTT p.F307V SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Missense_Mutation_p.F298V|SMARCB1_uc002zyd.2_Missense_Mutation_p.F316V NM_003073 NP_003064 Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin 307 Interaction with PPP1R15A.|2.|2 X approximate tandem repeats. cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(6)|p.L266_*386del(1) soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1) 407 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) GGGCGGGGAGTTTGTCACCAC 0.562000 D|N|F|S malignant rhabdoid malignant rhabdoid Rhabdoid_Predisposition_syndrome|Schwannomatosis CACNA1I 8911 broad.mit.edu 37 22 40037114 40037114 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr22:40037114C>T uc003ayc.2 + 6 983 c.983C>T c.(982-984)ACG>ATG p.T328M CACNA1I_uc003ayd.2_Missense_Mutation_p.T328M|CACNA1I_uc003aye.2_Missense_Mutation_p.T243M|CACNA1I_uc003ayf.2_Missense_Mutation_p.T243M NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 328 I.|Extracellular (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GTGTGCCGCACGGGCAGCGCC 0.592000 ZC3H7B 23264 broad.mit.edu 37 22 41739432 41739432 + Silent SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr22:41739432C>T uc003azw.2 + 13 1527 c.1311C>T c.(1309-1311)GGC>GGT p.G437G ZC3H7B_uc010gyl.1_Intron NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 453 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1) 1 CCCGGGCTGGCGACTACACCT 0.632000 KLHDC7B 113730 broad.mit.edu 37 22 50987858 50987858 + Silent SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr22:50987858C>T uc003bmi.2 + 1 1397 c.1263C>T c.(1261-1263)TAC>TAT p.Y421Y NM_138433 NP_612442 Q96G42 KLD7B_HUMAN kelch domain containing 7B 421 Kelch 3. central_nervous_system(1) 1 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGGAGTGCTACGACCCGCGAA 0.677000 CELSR3 1951 broad.mit.edu 37 3 48668088 48668088 + Nonsense_Mutation SNP G G T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr3:48668088G>T uc003cuf.1 - 46 11415 c.11415C>A c.(11413-11415)TGC>TGA p.C3805* SLC26A6_uc003cug.2_Nonsense_Mutation_p.C379*|SLC26A6_uc003cuh.2_Nonsense_Mutation_p.C400*|SLC26A6_uc010hke.2_Nonsense_Mutation_p.C251*|SLC26A6_uc003cuk.2_Nonsense_Mutation_p.C293*|SLC26A6_uc003cui.2_Nonsense_Mutation_p.C400*|SLC26A6_uc003cuj.2_Nonsense_Mutation_p.C400*|SLC26A6_uc011bbp.1_Nonsense_Mutation_p.C364* NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 Error:Variant_position_missing_in_Q9NYQ7_after_alignment homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GAGACATAGAGCAACTCACGG 0.527000 MINA 84864 broad.mit.edu 37 3 97686239 97686239 + Nonsense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr3:97686239G>A uc003drz.1 - 2 705 c.199C>T c.(199-201)CAG>TAG p.Q67* MINA_uc003dsa.1_Nonsense_Mutation_p.Q67*|MINA_uc003dsb.1_Nonsense_Mutation_p.Q67*|MINA_uc003dsc.1_Nonsense_Mutation_p.Q67*|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_Intron NM_001042533 NP_001035998 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen isoform a 67 ribosome biogenesis cytoplasm|nucleolus ovary(1) 1 TCATCTCTCTGAATGAGAAGG 0.468000 MYH15 22989 broad.mit.edu 37 3 108129642 108129642 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr3:108129642C>T uc003dxa.1 - 32 4400 c.4343G>A c.(4342-4344)CGC>CAC p.R1448H NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1448 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 TGCTGCAGAGCGGACCTTCCC 0.652000 EPHA5 2044 broad.mit.edu 37 4 66467874 66467874 + Missense_Mutation SNP A A C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr4:66467874A>C uc003hcy.2 - 3 588 c.395T>G c.(394-396)TTT>TGT p.F132C EPHA5_uc003hcx.2_Missense_Mutation_p.F63C|EPHA5_uc003hcz.2_Missense_Mutation_p.F132C|EPHA5_uc011cah.1_Missense_Mutation_p.F132C|EPHA5_uc011cai.1_Missense_Mutation_p.F132C|EPHA5_uc003hda.2_Missense_Mutation_p.F132C NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 132 Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CCGCAGGGTAAATTTGAGTTC 0.428000 TSP Lung(17;0.13) UNC5C 8633 broad.mit.edu 37 4 96127865 96127865 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr4:96127865C>T uc003htp.1 - 11 1970 c.1816G>A c.(1816-1818)GTC>ATC p.V606I UNC5C_uc010ilc.1_Missense_Mutation_p.V625I NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 606 Cytoplasmic (Potential).|ZU5. 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) ATAGTGAGGACGACTGGGCGG 0.592000 PRMT10 90826 broad.mit.edu 37 4 148575375 148575375 + Missense_Mutation SNP T T C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr4:148575375T>C uc003ilc.2 - 9 1815 c.1673A>G c.(1672-1674)GAT>GGT p.D558G PRMT10_uc003ilb.2_Missense_Mutation_p.D202G|PRMT10_uc003ild.2_Missense_Mutation_p.D445G NM_138364 NP_612373 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 558 cytoplasm binding|protein methyltransferase activity ovary(1)|central_nervous_system(1) 2 ACAGTGAGTATCCATGGTCTG 0.413000 WDR17 116966 broad.mit.edu 37 4 177095813 177095813 + Missense_Mutation SNP A A C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr4:177095813A>C uc003iuj.2 + 28 3666 c.3510A>C c.(3508-3510)TTA>TTC p.L1170F WDR17_uc003iuk.2_Missense_Mutation_p.L1146F|WDR17_uc003ium.3_Missense_Mutation_p.L1131F|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.L381F NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 1170 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TTGGTGCATTACTGGCTATCA 0.333000 IRF2 3660 broad.mit.edu 37 4 185339369 185339369 + Splice_Site SNP T T A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr4:185339369T>A uc003iwf.3 - 5 565 c.365_splice c.e5-1 p.G122_splice NM_002199 NP_002190 P14316 IRF2_HUMAN interferon regulatory factor 2 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) GTTTCTTTCCTGTGGCAACAA 0.373000 CDH12 1010 broad.mit.edu 37 5 21854857 21854857 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr5:21854857G>A uc010iuc.2 - 4 1027 c.569C>T c.(568-570)CCG>CTG p.P190L CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Missense_Mutation_p.P190L NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 190 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TCCATAGGTCGGGTCATCTGC 0.403000 HNSCC(59;0.17) PCDH1 5097 broad.mit.edu 37 5 141243873 141243873 + Missense_Mutation SNP G G C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr5:141243873G>C uc003llq.2 - 3 2140 c.2023C>G c.(2023-2025)CGA>GGA p.R675G PCDH1_uc003llp.2_Missense_Mutation_p.R675G|PCDH1_uc011dbf.1_Missense_Mutation_p.R653G NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 675 Extracellular (Potential).|Cadherin 6. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TGTTGCTCTCGATCAAAGCTC 0.557000 PDE6A 5145 broad.mit.edu 37 5 149276316 149276316 + Silent SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr5:149276316C>T uc003lrg.3 - 11 1551 c.1431G>A c.(1429-1431)AAG>AAA p.K477K NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A 477 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CCCATGGCTCCTTCCCATACA 0.522000 TUBB2B 347733 broad.mit.edu 37 6 3226033 3226033 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr6:3226033G>A uc003mvg.2 - 4 481 c.290C>T c.(289-291)GCC>GTC p.A97V uc003mvi.1_5'Flank|TUBB2B_uc010jnj.2_Missense_Mutation_p.A60V|TUBB2B_uc010jnk.2_Missense_Mutation_p.A25V|TUBB2B_uc003mvh.2_Missense_Mutation_p.A70V|uc011dhu.1_RNA NM_178012 NP_821080 Q9BVA1 TBB2B_HUMAN tubulin, beta 2B 97 'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity large_intestine(1) 1 Ovarian(93;0.0386) all_hematologic(90;0.108) GTTATTCCCGGCTCCACTCTG 0.522000 DDR1 780 broad.mit.edu 37 6 30856549 30856549 + Missense_Mutation SNP G G T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr6:30856549G>T uc003nrr.2 + 3 302 c.43G>T c.(43-45)GTG>TTG p.V15L DDR1_uc010jse.2_Missense_Mutation_p.V15L|DDR1_uc003nrq.2_Missense_Mutation_p.V15L|DDR1_uc003nrs.2_Missense_Mutation_p.V15L|DDR1_uc003nrt.2_Missense_Mutation_p.V15L|DDR1_uc011dms.1_Missense_Mutation_p.V33L|DDR1_uc011dmt.1_Missense_Mutation_p.V41L|DDR1_uc003nru.2_Missense_Mutation_p.V15L|DDR1_uc011dmu.1_Missense_Mutation_p.V15L|DDR1_uc003nrv.2_Missense_Mutation_p.V15L|DDR1_uc003nrw.1_5'Flank NM_013993 NP_054699 Q08345 DDR1_HUMAN discoidin domain receptor family, member 1 15 cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1) 9 Imatinib(DB00619) GCTGCTCTTGGTGGCAAGTGG 0.567000 ITPR3 3710 broad.mit.edu 37 6 33638163 33638163 + Missense_Mutation SNP A A C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr6:33638163A>C uc011drk.1 + 19 2470 c.2251A>C c.(2251-2253)ATC>CTC p.I751L NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 751 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 CATCGACGAGATCTCCCAGCA 0.607000 ZNF318 24149 broad.mit.edu 37 6 43333179 43333179 + Splice_Site SNP C C G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr6:43333179C>G uc003oux.2 - 2 478 c.400_splice c.e2-1 p.R134_splice ZNF318_uc003ouw.2_Splice_Site NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GAGAGCGTCTCTACAAAAGTA 0.408000 PSMB1 5689 broad.mit.edu 37 6 170862307 170862307 + Nonsense_Mutation SNP A A T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr6:170862307A>T uc011ehe.1 - 1 111 c.24T>A c.(22-24)TAT>TAA p.Y8* PSMB1_uc003qxq.2_RNA|PSMB1_uc003qxr.2_5'Flank|TBP_uc003qxt.2_5'Flank|TBP_uc003qxu.2_5'Flank|TBP_uc011ehf.1_5'Flank NM_002793 NP_002784 P20618 PSB1_HUMAN proteasome beta 1 subunit precursor 8 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cell junction|cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643) Bortezomib(DB00188) CAGGAGCCGAATACATGGCTG 0.597000 GIMAP5 55340 broad.mit.edu 37 7 150439921 150439921 + Silent SNP A A C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr7:150439921A>C uc003whr.1 + 3 1046 c.694A>C c.(694-696)AGA>CGA p.R232R GIMAP5_uc010lpu.2_Silent_p.R90R NM_018384 NP_060854 Q96F15 GIMA5_HUMAN GTPase, IMAP family member 5 232 Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane GTP binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCTGCTCCAAAGAACTGGAGC 0.592000 OPRK1 4986 broad.mit.edu 37 8 54142312 54142312 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr8:54142312C>T uc003xrh.1 - 3 1063 c.688G>A c.(688-690)GTC>ATC p.V230I OPRK1_uc003xri.1_Missense_Mutation_p.V230I|OPRK1_uc010lyc.1_Missense_Mutation_p.V141I NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 230 Helical; Name=5; (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) AAGATGAAGACGCAGATCTTC 0.527000 TRHR 7201 broad.mit.edu 37 8 110100010 110100010 + Missense_Mutation SNP C C T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr8:110100010C>T uc003ymz.3 + 1 285 c.269C>T c.(268-270)TCC>TTC p.S90F NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 90 Extracellular (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) ATCTACGGTTCCTGGGTCTAT 0.498000 RG9MTD3 158234 broad.mit.edu 37 9 37762114 37762114 + Silent SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr9:37762114G>A uc004aai.2 + 2 263 c.186G>A c.(184-186)TCG>TCA p.S62S RG9MTD3_uc011lqo.1_Silent_p.S62S|RG9MTD3_uc011lqp.1_Silent_p.S62S|RG9MTD3_uc011lqq.1_Missense_Mutation_p.R33Q|RG9MTD3_uc004aaj.2_RNA|RG9MTD3_uc004aak.2_Missense_Mutation_p.G4S NM_144964 NP_659401 Q6PF06 RG9D3_HUMAN RNA (guanine-9-) methyltransferase domain 62 methyltransferase activity 0 GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226) CATGGTGCTCGGTGAGTGCGT 0.527000 GABBR2 9568 broad.mit.edu 37 9 101470875 101470875 + Missense_Mutation SNP G G A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr9:101470875G>A uc004ays.2 - 1 301 c.145C>T c.(145-147)CCG>TCG p.P49S NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 49 Extracellular (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) CTgggcggcggccggggggcg 0.368000 GRIN3A 116443 broad.mit.edu 37 9 104433226 104433226 + Missense_Mutation SNP C C A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr9:104433226C>A uc004bbp.1 - 3 2069 c.1468G>T c.(1468-1470)GTC>TTC p.V490F GRIN3A_uc004bbq.1_Missense_Mutation_p.V490F NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 490 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TAGTCCATGACAATCTTTCCC 0.498000 DFNB31 25861 broad.mit.edu 37 9 117186780 117186780 + Missense_Mutation SNP C C A TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr9:117186780C>A uc004biz.3 - 6 1899 c.1250G>T c.(1249-1251)AGC>ATC p.S417I DFNB31_uc004bix.2_Missense_Mutation_p.S66I|DFNB31_uc004biy.3_Missense_Mutation_p.S34I|DFNB31_uc004bja.3_Missense_Mutation_p.S417I NM_015404 NP_056219 Q9P202 WHRN_HUMAN CASK-interacting protein CIP98 isoform 1 417 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium ovary(4)|central_nervous_system(1)|pancreas(1) 6 GTTCCCCAGGCTGCTCAGGGT 0.582000 GUCY2F 2986 broad.mit.edu 37 X 108718759 108718759 + Missense_Mutation SNP G G C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chrX:108718759G>C uc004eod.3 - 2 683 c.407C>G c.(406-408)TCG>TGG p.S136W GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 136 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 TCCCAGGAGCGAGGCTGCCTC 0.498000 OREG0019905 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HNRPDL 9987 broad.mit.edu 37 4 83348624 83348625 + Frame_Shift_Ins INS - - T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr4:83348624_83348625insT uc003hmr.2 - 4 1402_1403 c.867_868insA c.(865-870)AAATTGfs p.K289fs HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Frame_Shift_Ins_p.K289fs NM_031372 NP_112740 O14979 HNRDL_HUMAN heterogeneous nuclear ribonucleoprotein D-like 289_290 RRM 2. regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|heterogeneous nuclear ribonucleoprotein complex double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding skin(1) 1 Hepatocellular(203;0.114) CTTTCTAACAATTTTTTTACTG 0.287 APC 324 broad.mit.edu 37 5 112174471 112174471 + Frame_Shift_Del DEL A A - TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr5:112174471delA uc010jby.2 + 16 3560 c.3180delA c.(3178-3180)ATAfs p.I1060fs APC_uc011cvt.1_Frame_Shift_Del_p.I1042fs|APC_uc003kpz.3_Frame_Shift_Del_p.I1060fs|APC_uc003kpy.3_Frame_Shift_Del_p.I1060fs|APC_uc010jbz.2_Frame_Shift_Del_p.I777fs|APC_uc010jca.2_Frame_Shift_Del_p.I360fs NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1060 Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination. 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 adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|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.Q1062fs*1(2)|p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 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) AAGATGAAATAAAACAAAGTG 0.363 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) SPEN 23013 broad.mit.edu 37 1 16264327 16264328 + Frame_Shift_Ins INS - - G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr1:16264326_16264327A>AG uc001axk.1 + 12 10733_10734 c.10529_10530A>AG c.(10528-10530)cagfs p.Q3510fs SPEN_uc010obp.1_Frame_Shift_Ins_p.Q3469fs NM_015001 NP_055816 Q96T58 MINT_HUMAN Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA. 3510 SPOC. Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent nucleus RNA binding|nucleotide binding|protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ATCGTGTGGCAGGGCCTGCTGG 0.594 ITGAV 3685 broad.mit.edu 37 2 187521085 187521086 + Frame_Shift_Ins INS - - G TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr2:187521084_187521085A>AG uc002upq.3 + 16 1951_1952 c.1675_1676A>AG c.(1675-1677)aggfs p.R559fs ITGAV_uc010frs.3_Frame_Shift_Ins_p.R523fs|ITGAV_uc010zfv.2_Frame_Shift_Ins_p.R513fs NM_002210 NP_002201 P06756 ITAV_HUMAN Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA. 559 ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GACTATTTCAAGGGGGGGACTG 0.431 RBM6 10180 broad.mit.edu 37 3 50012778 50012779 + Frame_Shift_Del DEL CT CT - TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr3:50012777_50012778CCT>C uc003cyc.3 + 4 1683_1684 c.1435_1436CCT>C c.(1435-1437)cctfs p.P479fs RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_5'UTR|RBM6_uc003cyd.3_5'UTR|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript NM_005777 NP_001161054 P78332 RBM6_HUMAN Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA. 479 RRM. RNA processing nucleus DNA binding|RNA binding|nucleotide binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) TTTTCGGACTCCTGATGGCATG 0.366 HNRPDL 9987 broad.mit.edu 37 4 83348625 83348626 + Frame_Shift_Ins INS - - T TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr4:83348624_83348625A>AT uc003hmr.3 - 3 1402_1403 c.867_868T>AT c.(865-870)aaattgfs p.K289fs HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Frame_Shift_Ins_p.K289fs NM_031372 NP_112740 O14979 HNRDL_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA. 289 RRM 2. RNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|heterogeneous nuclear ribonucleoprotein complex double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Hepatocellular(203;0.114) CTTTCTAACAATTTTTTTACTG 0.287 MMP10 4319 broad.mit.edu 37 11 102650395 102650395 + Frame_Shift_Del DEL T T - TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr11:102650394_102650394AT>A uc001phg.2 - 1 225 c.188_188AT>T c.(187-189)atcfs p.I63fs NM_002425 NP_002416 P09238 MMP10_HUMAN Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA. 63 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) CATTCCTTGGATTTTTTTAAC 0.423 GAS6 2621 broad.mit.edu 37 13 114542718 114542719 + Frame_Shift_Ins INS - - C TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr13:114542717_114542718G>GC uc001vud.3 - 4 602_603 c.449_450C>GC c.(448-450)ggcfs p.G150fs FLJ41484_uc010tki.2_5'Flank NM_000820 NP_001137417 Q14393 GAS6_HUMAN Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 1, mRNA. 150 EGF-like 1; calcium-binding (Potential). cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) CGCAGAGCCGGCCCCCCCAGCC 0.649 TP53 7157 broad.mit.edu 37 17 7577560 7577560 + Frame_Shift_Del DEL A A - rs28934573 TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr17:7577559_7577559GA>G uc002gim.2 - 6 916 c.722_722TC>C c.(721-723)tccfs p.S241fs TP53_uc002gig.1_Frame_Shift_Del_p.S241fs|TP53_uc002gih.3_Frame_Shift_Del_p.S241fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.S109fs|TP53_uc010cnf.1_Frame_Shift_Del_p.S109fs|TP53_uc002gii.1_Frame_Shift_Del_p.S109fs|TP53_uc010cni.1_Frame_Shift_Del_p.S241fs|TP53_uc010cnh.1_Frame_Shift_Del_p.S241fs|TP53_uc002gij.2_Frame_Shift_Del_p.S241fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Del_p.S148fs|TP53_uc002gio.2_Frame_Shift_Del_p.S109fs|DL476309_uc021tpg.1_Splice_Site|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 241 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (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.S241F(163)|p.S241C(50)|p.S241Y(16)|p.S240G(14)|p.S241del(10)|p.S241A(9)|p.S240R(9)|p.S241fs*6(9)|p.0?(8)|p.N239_C242delNSSC(6)|p.S240I(6)|p.S241T(6)|p.C242fs*5(6)|p.?(5)|p.S148F(4)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(3)|p.N239_S240insX(2)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.N239_S240delNS(2)|p.S241_G245delSCMGG(2)|p.N239_C242del(2)|p.N239_S240insN(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.S241fs*23(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) GCCCATGCAGGAACTGTTACA 0.572 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes 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) TLCD1 116238 broad.mit.edu 37 17 27051543 27051547 + Frame_Shift_Del DEL CTTGT CTTGT - TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr17:27051542_27051546ACTTGT>A uc002hco.3 - 3 841_845 c.726_730ACAAGT>T c.(724-732)gacaagttcfs p.D242fs TLCD1_uc010waw.2_Frame_Shift_Del_p.D195fs NM_138463 NP_612472 Q96CP7 TLCD1_HUMAN Homo sapiens TLC domain containing 1 (TLCD1), transcript variant 1, mRNA. 242 integral to membrane breast(2)|endometrium(1)|kidney(2)|lung(2) 7 Lung NSC(42;0.00431) TCAGTCAAGAACTTGTCTTTGTGTT 0.522 ZNF211 10520 broad.mit.edu 37 19 58153269 58153270 + Frame_Shift_Del DEL AG AG - TCGA-HU-8245-01A-11D-2340-08 TCGA-HU-8245-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cad26a-cbc6-4977-83b9-dc61e49f2861 143533c9-e5de-40a3-967c-a410d9e18e0f g.chr19:58153268_58153269CAG>C uc002qpr.2 + 5 1909_1910 c.1606_1607CAG>C c.(1606-1608)cagfs p.Q536fs ZNF211_uc010yhb.1_Frame_Shift_Del_p.Q476fs|ZNF211_uc002qpp.2_Frame_Shift_Del_p.Q485fs|ZNF211_uc002qpq.2_Frame_Shift_Del_p.Q472fs|ZNF211_uc002qpt.2_Frame_Shift_Del_p.Q484fs|ZNF211_uc010yhc.1_Frame_Shift_Del_p.Q484fs|ZNF211_uc010yhe.1_Frame_Shift_Del_p.Q463fs|ZNF211_uc010yhd.1_Frame_Shift_Del_p.Q411fs NM_006385 NP_006376 Q13398 ZN211_HUMAN Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA. 472 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TAAGAACCACCAGAGAGTTCAC 0.455