Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut PPP1R3D 5509 broad.mit.edu 37 20 58514322 58514322 + Missense_Mutation SNP C C G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr20:58514322C>G ENST00000370996.3 - 1 1030 c.665G>C c.(664-666)cGg>cCg p.R222P FAM217B_ENST00000358293.3_Intron NM_006242.3 NP_006233.1 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 222 CBM21. glycogen metabolic process protein binding|protein serine/threonine phosphatase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1) 13 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) CCCGCGCCACCGCGCCACCGC 0.682000 15 22 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62237148 62237148 + Missense_Mutation SNP C C G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr1:62237148C>G ENST00000371158.2 + 6 684 c.570C>G c.(568-570)caC>caG p.H190Q INADL_ENST00000316485.6_Missense_Mutation_p.H190Q NM_176877.2 NP_795352 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 190 PDZ 1. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CCATTAATCACACGCCATTGG 0.348000 21 47 0 0 1 0 0 TRIM56 81844 broad.mit.edu 37 7 100732419 100732419 + Missense_Mutation SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr7:100732419G>C ENST00000306085.6 + 3 2123 c.1826G>C c.(1825-1827)gGc>gCc p.G609A NM_030961.1 NP_112223.1 Q9BRZ2 TRI56_HUMAN tripartite motif containing 56 609 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) AGCGTGGCGGGCCACGTGGAG 0.697000 26 82 0 0 1 0 0 AC096579.13 0 broad.mit.edu 37 2 89160846 89160846 + RNA SNP G G A rs114271391 by1000genomes TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr2:89160846G>A ENST00000452230.1 - 0 39 AC096579.7_ENST00000430694.1_RNA CCCCAATGAAGTTATTTTGAT 0.418000 2 1 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 48936995 48936995 + Nonsense_Mutation SNP C C T TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr13:48936995C>T ENST00000267163.4 + 8 901 c.763C>T c.(763-765)Cga>Tga p.R255* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 255 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6)|p.R255*(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AACACCCAGGCGAGGTCAGAA 0.348000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 22 8 0 0 1 0 0 ALKBH5 54890 broad.mit.edu 37 17 18088087 18088087 + Missense_Mutation SNP T T A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr17:18088087T>A ENST00000399138.4 + 1 535 c.530T>A c.(529-531)gTg>gAg p.V177E ALKBH5_ENST00000541285.1_Intron NM_017758.3 NP_060228.3 Q6P6C2 ALKB5_HUMAN alkB, alkylation repair homolog 5 (E. coli) 177 integral to membrane metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1) 10 all_neural(463;0.228) CAAAAGCTGGTGGAGCACCGC 0.672000 10 27 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73466770 73466770 + Missense_Mutation SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr10:73466770G>A ENST00000224721.6 + 25 3090 c.3085G>A c.(3085-3087)Gtg>Atg p.V1029M CDH23_ENST00000299366.7_Missense_Mutation_p.V1069M NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1024 Cadherin 10. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GGACAACGACGTGGGCCTCAA 0.657000 5 9 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149529936 149529936 + RNA SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr7:149529936G>A ENST00000378016.2 + 0 15353 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGAACCTGCGCTGTCTGGGT 0.677000 25 22 0 0 1 0 0 IGLV5-45 28781 broad.mit.edu 37 22 22730716 22730716 + RNA SNP T T G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr22:22730716T>G ENST00000390296.2 + 0 239 TCTCCTGAGGTACAAATCAGA 0.532000 24 79 0 0 1 0 0 CCDC125 202243 broad.mit.edu 37 5 68588043 68588043 + Nonsense_Mutation SNP C C T TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr5:68588043C>T ENST00000396496.2 - 10 1178 c.1071G>A c.(1069-1071)tgG>tgA p.W357* CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000396499.1_Nonsense_Mutation_p.W357*|CCDC125_ENST00000383374.2_Intron|CCDC125_ENST00000511257.1_Nonsense_Mutation_p.W232* Q86Z20 CC125_HUMAN coiled-coil domain containing 125 357 cytoplasm breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1) 19 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) TCCAATTCATCCATTTTGTTG 0.313000 25 51 0 0 1 0 0 STAT2 6773 broad.mit.edu 37 12 56744888 56744888 + Missense_Mutation SNP C C T TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr12:56744888C>T ENST00000314128.4 - 10 1051 c.1028G>A c.(1027-1029)cGa>cAa p.R343Q STAT2_ENST00000418572.2_Missense_Mutation_p.R339Q|STAT2_ENST00000557235.1_Missense_Mutation_p.R339Q P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 343 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 CAACCTTGTTCGGACGGTGAA 0.517000 36 25 0 0 1 0 0 NAT16 375607 broad.mit.edu 37 7 100815663 100815663 + Missense_Mutation SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr7:100815663G>C ENST00000300303.2 - 4 1045 c.807C>G c.(805-807)gaC>gaG p.D269E NAT16_ENST00000455377.1_Missense_Mutation_p.D269E NM_198571.2 NP_940973.2 Q8N8M0 CG052_HUMAN N-acetyltransferase 16 (GCN5-related, putative) 269 N-acetyltransferase activity GCGCGCGGCTGTCCACGCGCC 0.701000 4 11 0 0 1 0 0 BMP7 655 broad.mit.edu 37 20 55840819 55840819 + Silent SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr20:55840819G>A ENST00000395863.3 - 1 865 c.360C>T c.(358-360)agC>agT p.S120S BMP7_ENST00000395864.3_Silent_p.S120S|BMP7_ENST00000450594.2_Silent_p.S120S NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 120 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) TATCTTGCAGGCTGGCCAGAG 0.662000 6 5 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238277575 238277575 + Missense_Mutation SNP C C T TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr2:238277575C>T ENST00000295550.4 - 10 4983 c.4531G>A c.(4531-4533)Ggg>Agg p.G1511R COL6A3_ENST00000472056.1_Missense_Mutation_p.G904R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1310R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1305R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1311R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1305R NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1511 Nonhelical region.|VWFA 8. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGTGGGGACCCCCCTCTGAGC 0.562000 20 44 0 0 1 0 0 INPP5E 56623 broad.mit.edu 37 9 139327638 139327638 + Missense_Mutation SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr9:139327638G>C ENST00000371712.3 - 4 1530 c.1128C>G c.(1126-1128)ttC>ttG p.F376L NM_019892.4 NP_063945.2 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase, 72 kDa 376 cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity NS(1)|endometrium(1)|lung(4)|skin(3) 9 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) CCCTGCGGATGAAGAGCGACA 0.682000 9 8 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33469023 33469023 + Missense_Mutation SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr9:33469023G>A ENST00000379471.2 - 7 1046 c.959C>T c.(958-960)tCa>tTa p.S320L NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Missense_Mutation_p.S260L Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 320 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) GCCCTGGGCTGAACTCAGAAT 0.597000 59 118 0 0 1 0 0 ZNF566 84924 broad.mit.edu 37 19 36940238 36940238 + Missense_Mutation SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr19:36940238G>C ENST00000454319.1 - 5 1035 c.901C>G c.(901-903)Caa>Gaa p.Q301E ZNF566_ENST00000424129.2_Missense_Mutation_p.Q300E|ZNF566_ENST00000392170.2_Missense_Mutation_p.Q301E|ZNF566_ENST00000434377.2_Missense_Mutation_p.Q300E|ZNF566_ENST00000493391.1_Missense_Mutation_p.Q196E NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) CTCTGATGTTGAGTAAAGTTT 0.403000 35 77 0 0 1 0 0 LRRN4 164312 broad.mit.edu 37 20 6021797 6021797 + Silent SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr20:6021797G>A ENST00000378858.4 - 5 2318 c.2094C>T c.(2092-2094)acC>acT p.T698T NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 698 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 ACAGCACCACGGTGCTGGCGA 0.687000 6 7 0 0 1 0 0 IGKJ4 28947 broad.mit.edu 37 2 89160424 89160424 + RNA SNP C C G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr2:89160424C>G ENST00000452230.1 - 0 39 IGKJ4_ENST00000390239.2_RNA|AC096579.7_ENST00000430694.1_RNA GGTCCCTCCGCCGAAAGTGAG 0.418000 15 13 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89405142 89405142 + RNA SNP C C T rs3018757 by1000genomes TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr11:89405142C>T ENST00000532352.1 + 0 1082 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GTTCATGAAACTGTGAGGAGC 0.433000 4 110 0 0 1 0 0 IGHV3-21 28444 broad.mit.edu 37 14 106692121 106692121 + RNA SNP C C T TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr14:106692121C>T ENST00000390607.2 - 0 82 AGCCCCAGTTCCATGGTGAAT 0.502000 12 33 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123166615 123166615 + Missense_Mutation SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr3:123166615G>C ENST00000462833.1 - 1 1990 c.778C>G c.(778-780)Cac>Gac p.H260D NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 260 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CGCGCCGCGTGGAAGGCCAAC 0.677000 16 18 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940303 144940303 + Missense_Mutation SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr8:144940303G>C ENST00000525985.1 - 2 7190 c.7119C>G c.(7117-7119)aaC>aaG p.N2373K P58107 EPIPL_HUMAN epiplakin 1 2373 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCAGGACGCGGTTCATCTCCT 0.682000 23 454 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19745456 19745456 + Missense_Mutation SNP C C G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr19:19745456C>G ENST00000203556.4 - 18 2081 c.1944G>C c.(1942-1944)aaG>aaC p.K648N GMIP_ENST00000587238.1_Missense_Mutation_p.K622N|GMIP_ENST00000445806.2_Missense_Mutation_p.K619N|GMIP_ENST00000586269.1_Intron NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 648 Rho-GAP. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CATGCAAGGTCTTAGCCAGAG 0.632000 66 104 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113679918 113679918 + Silent SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr11:113679918G>C ENST00000003302.4 - 17 2099 c.2031C>G c.(2029-2031)ctC>ctG p.L677L USP28_ENST00000260188.5_Silent_p.L677L|USP28_ENST00000544967.1_Silent_p.L385L|USP28_ENST00000545540.1_Silent_p.L552L NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 677 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TGTAATGCTTGAGTTCCACAG 0.468000 145 156 0 0 1 0 0 RALGDS 5900 broad.mit.edu 37 9 135985048 135985048 + Silent SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr9:135985048G>A ENST00000393160.3 - 4 737 c.384C>T c.(382-384)tcC>tcT p.S128S RALGDS_ENST00000542690.1_Silent_p.S254S|RALGDS_ENST00000372050.3_Silent_p.S183S|RALGDS_ENST00000393157.3_Silent_p.S182S|RALGDS_ENST00000372062.3_Silent_p.S154S|RALGDS_ENST00000372047.3_Silent_p.S171S NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 183 N-terminal Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CATCCTCGTCGGAATAGGGGA 0.552000 T CIITA """PMBL, Hodgkin Lymphona, """ 6 56 0 0 1 0 0 IGKV5-2 28907 broad.mit.edu 37 2 89197019 89197019 + RNA SNP A A G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr2:89197019A>G ENST00000390244.2 + 0 127 CAGGGCAGAAACGACACTCAC 0.393000 11 5 0 0 1 0 0 IGLV7-43 28776 broad.mit.edu 37 22 22749796 22749796 + RNA SNP A A G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr22:22749796A>G ENST00000390298.2 + 0 354 GAGGCTGAGTATTACTGCCTG 0.557000 28 67 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17834270 17834270 + Silent SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr6:17834270G>A ENST00000378814.5 - 12 1187 c.1188C>T c.(1186-1188)ctC>ctT p.L396L KIF13A_ENST00000378826.2_Silent_p.L396L|KIF13A_ENST00000259711.6_Silent_p.L396L|KIF13A_ENST00000378816.5_Silent_p.L396L|KIF13A_ENST00000378843.2_Silent_p.L396L NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 396 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding p.L396L(1) breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CAGACTCTTCGAGCTTCTCCT 0.383000 7 9 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133249288 133249288 + Missense_Mutation SNP C C G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr12:133249288C>G ENST00000320574.5 - 15 1654 c.1611G>C c.(1609-1611)gaG>gaC p.E537D POLE_ENST00000535270.1_Missense_Mutation_p.E510D NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 537 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CGACGTAGGTCTCAGAGTCCA 0.577000 DNA polymerases (catalytic subunits) 26 57 0 0 1 0 0 IRF3 3661 broad.mit.edu 37 19 50162957 50162957 + Missense_Mutation SNP T T G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr19:50162957T>G ENST00000597198.1 - 8 1613 c.1232A>C c.(1231-1233)tAc>tCc p.Y411S IRF3_ENST00000377135.4_Missense_Mutation_p.Y284S|IRF3_ENST00000377139.3_Missense_Mutation_p.Y411S|IRF3_ENST00000600911.1_Silent_p.L372L|IRF3_ENST00000596822.1_Silent_p.L99L|IRF3_ENST00000599144.1_Missense_Mutation_p.Y265S|IRF3_ENST00000601291.1_Silent_p.L416L|IRF3_ENST00000309877.7_Missense_Mutation_p.Y411S|IRF3_ENST00000598808.1_Missense_Mutation_p.Y265S|IRF3_ENST00000593922.1_Missense_Mutation_p.Y265S|IRF3_ENST00000600022.1_Missense_Mutation_p.Y138S|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000599223.1_Missense_Mutation_p.Y284S|IRF3_ENST00000596765.1_Missense_Mutation_p.Y138S Q14653 IRF3_HUMAN interferon regulatory factor 3 411 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) GTCCTGCAGGTAGGCCTTGTA 0.632000 12 13 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104642802 104642802 + Missense_Mutation SNP C C G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr14:104642802C>G ENST00000315264.7 + 11 3638 c.3260C>G c.(3259-3261)gCt>gGt p.A1087G KIF26A_ENST00000423312.2_Missense_Mutation_p.A1226G Q9ULI4 KI26A_HUMAN kinesin family member 26A 1226 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GTGGGCTGTGCTCGCCTGGGC 0.697000 10 14 0 0 1 0 0 LRP10 26020 broad.mit.edu 37 14 23344361 23344361 + Silent SNP C C T TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr14:23344361C>T ENST00000359591.4 + 4 1004 c.313C>T c.(313-315)Ctg>Ttg p.L105L LRP10_ENST00000546834.1_Silent_p.L105L NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 105 CUB 1. endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TCCCAGCCCTCTGCAGCTGCC 0.622000 14 21 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84651827 84651827 + Missense_Mutation SNP A A C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr7:84651827A>C ENST00000284136.6 - 11 1337 c.1294T>G c.(1294-1296)Tac>Gac p.Y432D SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 432 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 GCAACTGGGTATACGGACTTA 0.448000 51 129 0 0 1 0 0 REEP4 80346 broad.mit.edu 37 8 21997593 21997593 + Missense_Mutation SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr8:21997593G>C ENST00000306306.3 - 4 654 c.186C>G c.(184-186)ttC>ttG p.F62L REEP4_ENST00000523293.1_Missense_Mutation_p.F62L|REEP4_ENST00000334530.5_Missense_Mutation_p.F62L NM_025232.2 NP_079508.2 Q9H6H4 REEP4_HUMAN receptor accessory protein 4 62 integral to membrane kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 7 Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993) AGTAGAAAGGGAACCTGTCAC 0.612000 7 13 0 0 1 0 0 ALKBH5 54890 broad.mit.edu 37 17 18088115 18088115 + Silent SNP C C T TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr17:18088115C>T ENST00000399138.4 + 1 563 c.558C>T c.(556-558)ttC>ttT p.F186F ALKBH5_ENST00000541285.1_Intron NM_017758.3 NP_060228.3 Q6P6C2 ALKB5_HUMAN alkB, alkylation repair homolog 5 (E. coli) 186 integral to membrane metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1) 10 all_neural(463;0.228) CCGAGGGCTTCGTCAACAGCG 0.652000 7 21 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82595143 82595143 + Missense_Mutation SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr7:82595143G>C ENST00000333891.9 - 4 4298 c.3961C>G c.(3961-3963)Cca>Gca p.P1321A PCLO_ENST00000423517.2_Missense_Mutation_p.P1321A NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGTGGCTGTGGCTGTTCTTTT 0.403000 40 53 0 0 1 0 0 KIRREL3 84623 broad.mit.edu 37 11 126396467 126396467 + Silent SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr11:126396467G>A ENST00000525144.2 - 3 498 c.249C>T c.(247-249)gaC>gaT p.D83D KIRREL3_ENST00000529097.2_Silent_p.D83D|KIRREL3_ENST00000525704.2_Silent_p.D83D NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) 83 Ig-like C2-type 1. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) GAGCCAAGCCGTCCTTGATCC 0.612000 7 8 0 0 1 0 0 IGLV7-46 28775 broad.mit.edu 37 22 22724423 22724423 + RNA SNP T T G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr22:22724423T>G ENST00000390295.2 + 0 353 TGAGGCTGAGTATTACTGCTT 0.567000 8 26 0 0 1 0 0 TNFRSF14 8764 broad.mit.edu 37 1 2491290 2491290 + Missense_Mutation SNP C C G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr1:2491290C>G ENST00000355716.4 + 4 632 c.333C>G c.(331-333)tgC>tgG p.C111W TNFRSF14_ENST00000409119.1_Missense_Mutation_p.C111W NM_003820.2 NP_003811.2 Q92956 TNR14_HUMAN tumor necrosis factor receptor superfamily, member 14 111 immune response|interspecies interaction between organisms|T cell costimulation tumor necrosis factor receptor activity kidney(1) 1 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199) GCCGGAACTGCTCCAGGACAG 0.687000 """Mis, N, F""" follicular lymphoma 3 3 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127730942 127730942 + Silent SNP C C T rs138063920 by1000genomes TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr5:127730942C>T ENST00000508053.1 - 15 2078 c.1104G>A c.(1102-1104)tcG>tcA p.S368S FBN2_ENST00000508989.1_Silent_p.S335S|FBN2_ENST00000262464.4_Silent_p.S368S P35556 FBN2_HUMAN fibrillin 2 368 TB 2. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCACCAGGCCCGAGAAACACA 0.502000 14 22 0 0 1 0 0 SURF6 6838 broad.mit.edu 37 9 136198951 136198951 + Silent SNP C C G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr9:136198951C>G ENST00000372022.4 - 5 1105 c.840G>C c.(838-840)gtG>gtC p.V280V SURF6_ENST00000468290.1_5'UTR NM_006753.4 NP_006744.2 O75683 SURF6_HUMAN surfeit 6 280 granular component DNA binding|RNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 12 OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05) CACGGATCTTCACGCCCTCCG 0.687000 26 31 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120008748 120008748 + Splice_Site SNP A A T TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chrX:120008748A>T ENST00000371311.3 - 1 1030 c.e1+1 NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 TAGCCCCCTTACCCTCGGGGG 0.687000 40 8 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20410468 20410468 + Missense_Mutation SNP C C T rs150116953 byFrequency TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr16:20410468C>T ENST00000302451.4 - 2 403 c.155G>A c.(154-156)gGc>gAc p.G52D NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 52 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 CTGGGTCAGGCCAGCGGGCGT 0.582000 29 47 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28992878 28992878 + Missense_Mutation SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr18:28992878G>A ENST00000359747.4 + 15 2529 c.2500G>A c.(2500-2502)Gta>Ata p.V834I DSG4_ENST00000308128.4_Missense_Mutation_p.V815I|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 815 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CGGGTCTCCCGTAGGCTCTAT 0.433000 4 97 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65074702 65074702 + Splice_Site SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr17:65074702G>A ENST00000358691.5 - 33 5661 c.5495C>T c.(5494-5496)gCg>gTg p.A1832V HELZ_ENST00000580168.1_Splice_Site_p.A1833V NM_014877.3 NP_055692 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CTTGGGTGGCGCTAAAAGCAG 0.507000 4 102 0 0 1 0 0 C10orf128 170371 broad.mit.edu 37 10 50373838 50373838 + Missense_Mutation SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr10:50373838G>A ENST00000374148.1 - 4 296 c.242C>T c.(241-243)aCc>aTc p.T81I C10orf128_ENST00000374151.3_Missense_Mutation_p.T81I|C10orf128_ENST00000474718.1_Missense_Mutation_p.T81I|C10orf128_ENST00000374153.2_Missense_Mutation_p.T81I Q5T292 CJ128_HUMAN chromosome 10 open reading frame 128 81 integral to membrane breast(1)|large_intestine(1)|lung(1) 3 TAGCGGGATGGTGTCTAAACA 0.557000 19 35 0 0 1 0 0 TM4SF5 9032 broad.mit.edu 37 17 4686287 4686287 + Silent SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr17:4686287G>C ENST00000270560.3 + 4 565 c.534G>C c.(532-534)gtG>gtC p.V178V NM_003963.2 NP_003954.2 O14894 T4S5_HUMAN transmembrane 4 L six family member 5 178 integral to plasma membrane large_intestine(2)|lung(3)|ovary(1) 6 TCCAGCTGGTGAACGCGACCA 0.597000 25 46 0 0 1 0 0 IGLV7-46 28775 broad.mit.edu 37 22 22724338 22724338 + RNA SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr22:22724338G>C ENST00000390295.2 + 0 268 AACACTCCTGGACACCTGCCC 0.562000 7 14 0 0 1 0 0 FERMT3 83706 broad.mit.edu 37 11 63979189 63979189 + Missense_Mutation SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr11:63979189G>C ENST00000279227.5 + 6 851 c.756G>C c.(754-756)aaG>aaC p.K252N FERMT3_ENST00000345728.5_Missense_Mutation_p.K252N NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 252 FERM. integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 TGCGCTTCAAGTACTACAGCT 0.632000 19 28 0 0 1 0 0 SLFN11 91607 broad.mit.edu 37 17 33689794 33689794 + Missense_Mutation SNP C C G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr17:33689794C>G ENST00000394566.1 - 4 1305 c.1033G>C c.(1033-1035)Gag>Cag p.E345Q SLFN11_ENST00000308377.4_Missense_Mutation_p.E345Q NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 345 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACCCATTTCTCGGTTGTCAGG 0.488000 31 65 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140807667 140807667 + Missense_Mutation SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr9:140807667G>A ENST00000371372.1 + 4 711 c.566G>A c.(565-567)cGa>cAa p.R189Q CACNA1B_ENST00000371355.4_Missense_Mutation_p.R189Q|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R189Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R189Q|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R189Q NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 189 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TTCGACCTGCGAACACTGAGG 0.557000 17 37 0 0 1 0 0 ALKBH5 54890 broad.mit.edu 37 17 18088248 18088248 + Missense_Mutation SNP A A G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr17:18088248A>G ENST00000399138.4 + 1 696 c.691A>G c.(691-693)Aag>Gag p.K231E ALKBH5_ENST00000541285.1_Intron NM_017758.3 NP_060228.3 Q6P6C2 ALKB5_HUMAN alkB, alkylation repair homolog 5 (E. coli) 231 integral to membrane metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1) 10 all_neural(463;0.228) CTTCGGCTGCAAGTTCCAGTT 0.622000 27 36 0 0 1 0 0 IGKV5-2 28907 broad.mit.edu 37 2 89197141 89197141 + RNA SNP A A G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr2:89197141A>G ENST00000390244.2 + 0 249 AACCAGGAGAAGCTGCTATTT 0.448000 27 22 0 0 1 0 0 AC096579.13 0 broad.mit.edu 37 2 89160361 89160361 + RNA SNP A A G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr2:89160361A>G ENST00000452230.1 - 0 39 AC096579.7_ENST00000430694.1_RNA CCAAATTTAAAACCTTATAAG 0.408000 7 8 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625905 29625905 + Missense_Mutation SNP T T C rs137871677 by1000genomes TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr20:29625905T>C ENST00000278882.3 + 5 529 c.149T>C c.(148-150)cTt>cCt p.L50P FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P p.L50P(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGAAAATATCTTGGTATAAAT 0.333000 4 94 0 0 1 0 0 AC096579.13 0 broad.mit.edu 37 2 89160809 89160809 + RNA SNP T T G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr2:89160809T>G ENST00000452230.1 - 0 39 AC096579.7_ENST00000430694.1_RNA TACAAAAACCTCCCTGAAAGC 0.403000 3 3 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11219835 11219835 + Splice_Site SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr16:11219835G>A ENST00000409790.1 + 22 2703 c.e22-1 CLEC16A_ENST00000409552.3_Splice_Site NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TTTGACCGTAGCCCTCCTGGA 0.597000 78 96 0 0 1 0 0 IGKV4-1 28908 broad.mit.edu 37 2 89185474 89185474 + RNA SNP G G C rs142402063 by1000genomes TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr2:89185474G>C ENST00000390243.2 + 0 343 CCAACAATAAGAACTACTTAG 0.537000 12 7 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 147743505 147743505 + Missense_Mutation SNP C C G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chrX:147743505C>G ENST00000370460.2 + 3 736 c.257C>G c.(256-258)aCt>aGt p.T86S AFF2_ENST00000342251.3_Missense_Mutation_p.T82S|AFF2_ENST00000370457.5_Missense_Mutation_p.T82S|AFF2_ENST00000370458.1_Missense_Mutation_p.T82S NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 86 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AATTTGCTAACTAACCATTCT 0.388000 83 27 0 0 1 0 0 CYP2D6 1565 broad.mit.edu 37 22 42524897 42524897 + Silent SNP C C G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr22:42524897C>G ENST00000360608.5 - 4 669 c.555G>C c.(553-555)gtG>gtC p.V185V CYP2D6_ENST00000359033.4_Silent_p.V134V|CYP2D6_ENST00000389970.3_Silent_p.V185V|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA NM_000106.5 NP_000097 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 185 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGGAGGCGATCACGTTGCTCA 0.667000 3 9 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93637076 93637076 + Nonsense_Mutation SNP G G T TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr9:93637076G>T ENST00000375754.4 + 9 1274 c.1126G>T c.(1126-1128)Gaa>Taa p.E376* SYK_ENST00000375746.1_Nonsense_Mutation_p.E376*|SYK_ENST00000375751.4_Nonsense_Mutation_p.E353*|SYK_ENST00000375747.1_Nonsense_Mutation_p.E353* NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 376 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 GGAAGACAAAGAACTGGGCTC 0.522000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 51 95 1.05386e-31 1.07799e-31 1 1 0 LMNB2 84823 broad.mit.edu 37 19 2438182 2438182 + Missense_Mutation SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr19:2438182G>C ENST00000325327.3 - 4 725 c.663C>G c.(661-663)ttC>ttG p.F221L LMNB2_ENST00000582871.1_Missense_Mutation_p.F201L Q03252 LMNB2_HUMAN lamin B2 201 Linker 2.|Rod. nuclear inner membrane structural molecule activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 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) CACTCTTCCGGAAGTCCAGCT 0.617000 21 31 0 0 1 0 0 IGLV7-46 28775 broad.mit.edu 37 22 22724431 22724431 + RNA SNP C C G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr22:22724431C>G ENST00000390295.2 + 0 361 AGTATTACTGCTTGCTCTCCT 0.567000 9 25 0 0 1 0 0 IGLV4-3 28786 broad.mit.edu 37 22 23213919 23213919 + RNA SNP C C T TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr22:23213919C>T ENST00000390318.2 + 0 108 GCTGACTCAGCCCCCGTCTGC 0.532000 34 19 0 0 1 0 0 ALKBH5 54890 broad.mit.edu 37 17 18088080 18088080 + Missense_Mutation SNP A A G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr17:18088080A>G ENST00000399138.4 + 1 528 c.523A>G c.(523-525)Aag>Gag p.K175E ALKBH5_ENST00000541285.1_Intron NM_017758.3 NP_060228.3 Q6P6C2 ALKB5_HUMAN alkB, alkylation repair homolog 5 (E. coli) 175 integral to membrane metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1) 10 all_neural(463;0.228) GGTGATCCAAAAGCTGGTGGA 0.687000 11 29 0 0 1 0 0 SEC23A 10484 broad.mit.edu 37 14 39534130 39534130 + Missense_Mutation SNP C C T TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr14:39534130C>T ENST00000537403.1 - 7 1891 c.689G>A c.(688-690)tGt>tAt p.C230Y SEC23A_ENST00000545328.2_Missense_Mutation_p.C403Y|SEC23A_ENST00000536508.1_Missense_Mutation_p.C306Y|SEC23A_ENST00000553925.1_5'UTR|SEC23A_ENST00000307712.6_Missense_Mutation_p.C432Y Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 432 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) TTCAGACACACAGGGTCCTTT 0.423000 23 53 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40972561 40972561 + Missense_Mutation SNP C C G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr5:40972561C>G ENST00000313164.9 + 15 2298 c.1939C>G c.(1939-1941)Cct>Gct p.P647A NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 647 Sushi 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) CCCCCAAAAACCTTTCTACAC 0.453000 28 50 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13602997 13602997 + Missense_Mutation SNP A A T TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr4:13602997A>T ENST00000040738.5 - 10 5662 c.5527T>A c.(5527-5529)Tta>Ata p.L1843I NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1843 DNA binding GCAGCAACTAATGGTACATTA 0.473000 25 30 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70333403 70333403 + Missense_Mutation SNP C C G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr11:70333403C>G ENST00000338508.4 - 32 2997 c.2998G>C c.(2998-3000)Gcc>Ccc p.A1000P SHANK2_ENST00000449833.2_Missense_Mutation_p.A404P|SHANK2_ENST00000409161.1_Missense_Mutation_p.A403P|SHANK2_ENST00000423696.2_Missense_Mutation_p.A620P Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 620 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) ACGTAGACGGCTTTGCTGGCG 0.617000 54 79 0 0 1 0 0 IGLV3-1 28809 broad.mit.edu 37 22 23223523 23223523 + RNA SNP C C T TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr22:23223523C>T ENST00000390319.2 + 0 345 GGGACCCAGGCTATGGATGAG 0.572000 16 9 0 0 1 0 0 ZC2HC1C 79696 broad.mit.edu 37 14 75538463 75538463 + Missense_Mutation SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr14:75538463G>A ENST00000524913.1 + 2 1676 c.1187G>A c.(1186-1188)cGc>cAc p.R396H ZC2HC1C_ENST00000439583.2_Intron|ZC2HC1C_ENST00000238686.8_Intron|ZC2HC1C_ENST00000526748.1_Intron NM_024643.2 NP_078919.2 Q53FD0 F164C_HUMAN zinc finger, C2HC-type containing 1C 0 CACTGTGGGCGCAAATTCCTC 0.587000 3 29 0 0 1 0 0 EPRS 2058 broad.mit.edu 37 1 220179552 220179552 + Missense_Mutation SNP C C T TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr1:220179552C>T ENST00000366923.3 - 15 2115 c.1846G>A c.(1846-1848)Gct>Act p.A616T NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 616 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) ATAGGAAGAGCATGTGTAGTC 0.398000 46 109 0 0 1 0 0 FBF1 85302 broad.mit.edu 37 17 73929085 73929085 + Missense_Mutation SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr17:73929085G>A ENST00000586717.1 - 4 389 c.116C>T c.(115-117)gCg>gTg p.A39V FBF1_ENST00000319129.5_Missense_Mutation_p.A39V|FBF1_ENST00000389570.4_Missense_Mutation_p.A39V A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 39 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 CTTTGTTCTCGCCTTTGAAGA 0.468000 4 28 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60780359 60780359 + Missense_Mutation SNP T T G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr2:60780359T>G ENST00000335712.6 - 1 274 c.47A>C c.(46-48)gAa>gCa p.E16A BCL11A_ENST00000359629.5_Missense_Mutation_p.E16A|BCL11A_ENST00000356842.4_Missense_Mutation_p.E16A|BCL11A_ENST00000538214.1_Missense_Mutation_p.E16A|BCL11A_ENST00000358510.4_Missense_Mutation_p.E16A|BCL11A_ENST00000537768.1_5'UTR NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 16 Required for nuclear body formation and for SUMO1 recruitment (By similarity). negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) ACGCGAGAATTCCCGTTTGCT 0.592000 T IGH@ B-CLL 11 22 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104433030 104433030 + Missense_Mutation SNP T T C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr9:104433030T>C ENST00000361820.3 - 3 2264 c.1664A>G c.(1663-1665)gAc>gGc p.D555G NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 555 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 breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 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) AAAAAGGCTGTCCAATGTGGA 0.453000 23 47 0 0 1 0 0 RBM17 84991 broad.mit.edu 37 10 6148184 6148184 + Missense_Mutation SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr10:6148184G>A ENST00000446108.1 + 5 1132 c.488G>A c.(487-489)cGa>cAa p.R163Q RBM17_ENST00000379888.4_Missense_Mutation_p.R163Q NM_001145547.1 NP_001139019.1 Q96I25 SPF45_HUMAN RNA binding motif protein 17 163 mRNA processing|RNA splicing spliceosomal complex nucleotide binding|protein binding|RNA binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 19 GATTATGAGCGAGAGAGGAGG 0.368000 18 35 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33427661 33427661 + Missense_Mutation SNP C C T TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr7:33427661C>T ENST00000242067.6 + 19 2541 c.2020C>T c.(2020-2022)Cgg>Tgg p.R674W BBS9_ENST00000396127.2_Missense_Mutation_p.R639W|BBS9_ENST00000355070.2_Missense_Mutation_p.R669W|BBS9_ENST00000350941.3_Missense_Mutation_p.R634W|BBS9_ENST00000354265.4_Missense_Mutation_p.R639W NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 674 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGTACAATTTCGGGCCATTCA 0.403000 Bardet-Biedl syndrome 55 84 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137458 40137458 + Missense_Mutation SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr11:40137458G>C ENST00000278198.2 - 2 2348 c.385C>G c.(385-387)Ctg>Gtg p.L129V LRRC4C_ENST00000530763.1_Missense_Mutation_p.L129V|LRRC4C_ENST00000527150.1_Missense_Mutation_p.L129V|LRRC4C_ENST00000528697.1_Missense_Mutation_p.L129V Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 129 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) AAGAGTTCCAGAGTGTTGAGG 0.438000 15 35 0 0 1 0 0 IGLV3-1 28809 broad.mit.edu 37 22 23223511 23223511 + RNA SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr22:23223511G>C ENST00000390319.2 + 0 333 CTGACCATCAGCGGGACCCAG 0.567000 15 11 0 0 1 0 0 PIK3CD 5293 broad.mit.edu 37 1 9775912 9775912 + Missense_Mutation SNP C C G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr1:9775912C>G ENST00000536656.1 + 5 584 c.376C>G c.(376-378)Cac>Gac p.H126D PIK3CD_ENST00000361110.2_Missense_Mutation_p.H126D|PIK3CD_ENST00000377346.4_Missense_Mutation_p.H126D O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 126 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) CGCAGGCCTCCACGAGTTTGA 0.687000 9 11 0 0 1 0 0 IGLC3 3539 broad.mit.edu 37 22 23248700 23248700 + RNA SNP A A G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr22:23248700A>G ENST00000390325.2 + 0 189 ACAAAGCAACAACAAGTACGC 0.602000 11 22 0 0 1 0 0 SLC2A8 29988 broad.mit.edu 37 9 130166057 130166057 + Missense_Mutation SNP C C G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr9:130166057C>G ENST00000373371.3 + 6 931 c.842C>G c.(841-843)aCc>aGc p.T281S SLC2A8_ENST00000373352.1_Missense_Mutation_p.T18S|SLC2A8_ENST00000373360.3_Missense_Mutation_p.T281S NM_001271712.1|NM_014580.3 NP_001258641.1|NP_055395.2 Q9NY64 GTR8_HUMAN solute carrier family 2 (facilitated glucose transporter), member 8 281 cytoplasmic vesicle membrane|integral to plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 11 TATGCAGAGACCATCTTTGAA 0.612000 6 15 0 0 1 0 0 DAGLB 221955 broad.mit.edu 37 7 6465739 6465739 + Missense_Mutation SNP T T G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr7:6465739T>G ENST00000297056.6 - 7 1105 c.936A>C c.(934-936)agA>agC p.R312S DAGLB_ENST00000436575.1_Missense_Mutation_p.R271S|DAGLB_ENST00000421761.2_Missense_Mutation_p.R56S|DAGLB_ENST00000428902.2_Missense_Mutation_p.R185S|DAGLB_ENST00000425398.2_Missense_Mutation_p.R183S NM_139179.3 NP_631918.3 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 312 lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) TGGTTCTGCTTCTGCAGCTAA 0.542000 38 93 0 0 1 0 0 APOBEC3F 200316 broad.mit.edu 37 22 39441047 39441047 + Silent SNP A A C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr22:39441047A>C ENST00000308521.5 + 3 630 c.273A>C c.(271-273)gtA>gtC p.V91V APOBEC3F_ENST00000491387.1_3'UTR|APOBEC3G_ENST00000452957.2_Intron NM_145298.5 NP_660341.2 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F 92 base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) CCTGGTTTGTATCCTGGACCC 0.577000 49 33 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 82997071 82997071 + Missense_Mutation SNP C C G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr7:82997071C>G ENST00000307792.3 - 17 2626 c.2159G>C c.(2158-2160)aGc>aCc p.S720T SEMA3E_ENST00000427262.1_Missense_Mutation_p.S660T NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 720 axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) CTGGAAGTTGCTATAACCGAT 0.473000 40 134 0 0 1 0 0 IGHV3-21 28444 broad.mit.edu 37 14 106692118 106692118 + RNA SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr14:106692118G>C ENST00000390607.2 - 0 85 CGGAGCCCCAGTTCCATGGTG 0.502000 12 35 0 0 1 0 0 IGLV7-43 28776 broad.mit.edu 37 22 22749617 22749617 + RNA SNP A A G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr22:22749617A>G ENST00000390298.2 + 0 175 GCACTGGAGCAGTCACCAGTG 0.532000 9 28 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101648614 101648614 + Missense_Mutation SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr10:101648614G>A ENST00000342239.3 - 12 3416 c.3325C>T c.(3325-3327)Cgc>Tgc p.R1109C DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000324109.4_Missense_Mutation_p.R1085C|DNMBP_ENST00000543621.1_Missense_Mutation_p.R331C|DNMBP_ENST00000540316.1_Missense_Mutation_p.R21C Q6XZF7 DNMBP_HUMAN dynamin binding protein 1085 BAR. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) CTGATGTAGCGATGCACCCTC 0.507000 21 30 0 0 1 0 0 CNST 163882 broad.mit.edu 37 1 246823529 246823529 + Missense_Mutation SNP T T C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr1:246823529T>C ENST00000366513.4 + 10 2134 c.1865T>C c.(1864-1866)aTa>aCa p.I622T NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 622 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 TTGGTCTCCATATTAAAGAAG 0.383000 98 79 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117710315 117710315 + Missense_Mutation SNP C C T TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr12:117710315C>T ENST00000317775.6 - 10 2399 c.1714G>A c.(1714-1716)Gtg>Atg p.V572M NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.V572M NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 572 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.V572M(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ATGTTGGACACGGCGGGGAGG 0.617000 16 51 0 0 1 0 0 IGKV5-2 28907 broad.mit.edu 37 2 89197076 89197076 + RNA SNP A A C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr2:89197076A>C ENST00000390244.2 + 0 184 CAAAGTCAACATCTCCTGCAA 0.428000 19 11 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69259601 69259601 + Nonsense_Mutation SNP T T A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr14:69259601T>A ENST00000439696.2 - 1 356 c.55A>T c.(55-57)Aag>Tag p.K19* ZFP36L1_ENST00000336440.3_Nonsense_Mutation_p.K19* NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 19 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CCCTTTACCTTGCATAAAACT 0.517000 73 79 0 0 1 0 0 SLC6A15 55117 broad.mit.edu 37 12 85255517 85255517 + Missense_Mutation SNP C C T TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr12:85255517C>T ENST00000266682.5 - 12 2628 c.2087G>A c.(2086-2088)cGa>cAa p.R696Q SLC6A15_ENST00000552192.1_Missense_Mutation_p.R589Q|SLC6A15_ENST00000309283.7_3'UTR NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 696 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 ACTCTGTTTTCGATAAATATT 0.433000 96 67 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49177118 49177118 + Missense_Mutation SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr12:49177118G>C ENST00000307885.4 - 1 794 c.100C>G c.(100-102)Cgg>Ggg p.R34G ADCY6_ENST00000550422.1_Missense_Mutation_p.R34G|ADCY6_ENST00000357869.3_Missense_Mutation_p.R34G NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 34 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 CCACCTGCCCGAGTGCCACGG 0.657000 20 19 0 0 1 0 0 DMRTB1 63948 broad.mit.edu 37 1 53927225 53927225 + Silent SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr1:53927225G>A ENST00000371445.3 + 2 712 c.657G>A c.(655-657)ccG>ccA p.P219P DMRTB1_ENST00000463126.1_3'UTR NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 219 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 CCTACTGCCCGTTCCCGCTGG 0.657000 24 45 0 0 1 0 0 KRTAP5-8 57830 broad.mit.edu 37 11 71249545 71249545 + Silent SNP C C T TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr11:71249545C>T ENST00000398534.3 + 1 475 c.444C>T c.(442-444)tgC>tgT p.C148C NM_021046.2 NP_066384.2 O75690 KRA58_HUMAN keratin associated protein 5-8 148 9 X 4 AA repeats of C-C-X-P. extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1) 6 AGTCCAGCTGCTGTAAGCCCT 0.607000 5 234 0 0 1 0 0 ZNF70 7621 broad.mit.edu 37 22 24086730 24086730 + Missense_Mutation SNP C C G TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr22:24086730C>G ENST00000341976.3 - 2 1058 c.598G>C c.(598-600)Gag>Cag p.E200Q NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 200 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 TTCCCACACTCCCGGCACTCG 0.607000 17 15 0 0 1 0 0 C12orf55 144535 broad.mit.edu 37 12 97051849 97051849 + Missense_Mutation SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr12:97051849G>C ENST00000524981.4 + 37 5313 c.5290G>C c.(5290-5292)Gta>Cta p.V1764L chromosome 12 open reading frame 55 GGAAACACTAGTATCTCTTGC 0.323000 48 31 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97868649 97868649 + Silent SNP G G A rs142399115 byFrequency TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr3:97868649G>A ENST00000437310.1 + 1 480 c.420G>A c.(418-420)ctG>ctA p.L140L NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 CCAATGGACTGTGCATCCGGC 0.393000 9 199 0 0 1 0 0 LRRC56 115399 broad.mit.edu 37 11 554045 554045 + Silent SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr11:554045G>A ENST00000270115.7 + 14 1898 c.1398G>A c.(1396-1398)ccG>ccA p.P466P NM_198075.3 NP_932341.1 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 466 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCAGCTCCCCGCGGTGGTCGA 0.672000 30 42 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293471 145293471 + Missense_Mutation SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr1:145293471G>C ENST00000342960.5 + 1 101 c.66G>C c.(64-66)gaG>gaC p.E22D RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Missense_Mutation_p.E22D NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 22 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AAATCAACGAGACATTGCGCC 0.517000 90 1049 0 0 1 0 0 BMP7 655 broad.mit.edu 37 20 55840815 55840815 + Nonsense_Mutation SNP G G A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr20:55840815G>A ENST00000395863.3 - 1 869 c.364C>T c.(364-366)Caa>Taa p.Q122* BMP7_ENST00000395864.3_Nonsense_Mutation_p.Q122*|BMP7_ENST00000450594.2_Nonsense_Mutation_p.Q122* NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 122 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) TGGCTATCTTGCAGGCTGGCC 0.662000 7 6 0 0 1 0 0 SLC9B2 133308 broad.mit.edu 37 4 103988643 103988643 + Missense_Mutation SNP G G A rs142037979 TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr4:103988643G>A ENST00000394785.3 - 2 696 c.65C>T c.(64-66)aCg>aTg p.T22M SLC9B2_ENST00000362026.3_Missense_Mutation_p.T22M|SLC9B2_ENST00000503103.1_Missense_Mutation_p.T22M|SLC9B2_ENST00000339611.4_Missense_Mutation_p.T22M|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000503230.1_Missense_Mutation_p.T22M NM_178833.4 NP_849155.2 Q86UD5 NHDC2_HUMAN solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 22 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity CATGGAGGGCGTGTAATTCAT 0.368000 27 56 0 0 1 0 0 C4BPB 725 broad.mit.edu 37 1 207271519 207271519 + Missense_Mutation SNP G G C TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr1:207271519G>C ENST00000243611.5 + 5 822 c.528G>C c.(526-528)gaG>gaC p.E176D C4BPB_ENST00000367076.3_Missense_Mutation_p.E175D|C4BPB_ENST00000470767.1_3'UTR|C4BPB_ENST00000367078.3_Missense_Mutation_p.E176D|C4BPB_ENST00000391923.1_Missense_Mutation_p.E176D NM_000716.3 NP_000707.1 P20851 C4BPB_HUMAN complement component 4 binding protein, beta 176 Sushi 3. blood coagulation|complement activation, classical pathway|innate immune response extracellular region breast(2)|lung(1)|ovary(1) 4 GCGTGCAGGAGCAGCAATGCG 0.473000 44 44 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 4 83 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52320896 52320896 + Silent SNP C C A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr8:52320896C>A ENST00000356297.4 - 17 3388 c.3288G>T c.(3286-3288)ggG>ggT p.G1096G PXDNL_ENST00000543296.1_Silent_p.G1096G NM_144651.4 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1096 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCGGGTCTATCCCACCTTCCT 0.552000 26 29 1.85244e-09 1.88051e-09 1 1 0 SYCP1 6847 broad.mit.edu 37 1 115537600 115537601 + Frame_Shift_Ins INS - - A TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr1:115537600_115537601insA ENST00000369522.3 + 32 3131_3132 c.2891_2892insA c.(2890-2895)agaaaafs p.RK964fs SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.RK964fs|SYCP1_ENST00000477590.1_3'UTR NM_001282541.1|NM_003176.2 NP_001269470.1|NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 964 Arg/Lys-rich (basic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAATGGATAGAAAAAAAAAAC 0.356 9 68 --- --- --- --- PYCRL 65263 broad.mit.edu 37 8 144688646 144688651 + In_Frame_Del DEL GCCACT GCCACT - TCGA-DK-AA6T-01A-11D-A391-08 TCGA-DK-AA6T-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx db9a3743-9af2-4153-9c8c-e0f8d9f22326 dfc5766d-eeb3-49c0-9a53-0488c3d26921 g.chr8:144688646_144688651delGCCACT ENST00000220966.6 - 4 600_605 c.571_576delAGTGGC c.(571-576)agtggcdel p.SG191del PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_In_Frame_Del_p.SG42del NM_023078.3 NP_075566.2 Q53H96 P5CR3_HUMAN pyrroline-5-carboxylate reductase-like 179 proline biosynthetic process pyrroline-5-carboxylate reductase activity central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CGAAGGCCACGCCACTGCCACTGAGG 0.650 9 46 --- --- --- ---