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 HUWE1 10075 broad.mit.edu 37 X 53586378 53586378 + Missense_Mutation SNP G G C TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chrX:53586378G>C ENST00000342160.3 - 56 8309 c.7852C>G c.(7852-7854)Cgt>Ggt p.R2618G HUWE1_ENST00000262854.6_Missense_Mutation_p.R2618G Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2618 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TCATCAGAACGGGCGATGATG 0.557000 22 8 0 0 1 0 0 GJA3 2700 broad.mit.edu 37 13 20717018 20717018 + Missense_Mutation SNP C C T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr13:20717018C>T ENST00000241125.3 - 2 586 c.410G>A c.(409-411)gGc>gAc p.G137D NM_021954.3 NP_068773.2 Q9Y6H8 CXA3_HUMAN gap junction protein, alpha 3, 46kDa 137 cell-cell signaling|visual perception connexon complex|integral to membrane NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784) GCGCACCCTGCCGCGGTCGTC 0.627000 5 5 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62324513 62324513 + Missense_Mutation SNP C C T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr20:62324513C>T ENST00000318100.4 + 30 3696 c.2869C>T c.(2869-2871)Cgg>Tgg p.R957W RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 957 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CCAGTTTGTGCGGCCCCACCA 0.597000 4 106 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43926922 43926922 + Missense_Mutation SNP C C G TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr2:43926922C>G ENST00000282406.4 + 8 935 c.825C>G c.(823-825)atC>atG p.I275M NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 275 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ATGGTGGCATCTCCCAGAATT 0.502000 6 31 0 0 1 0 0 PDK1 5163 broad.mit.edu 37 2 173451073 173451073 + Missense_Mutation SNP C C G TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr2:173451073C>G ENST00000410055.1 + 9 1113 c.1013C>G c.(1012-1014)aCt>aGt p.T338S PDK1_ENST00000392571.2_Missense_Mutation_p.T358S|PDK1_ENST00000282077.2_Missense_Mutation_p.T338S|PDK1_ENST00000543905.1_Missense_Mutation_p.T262S|PDK1_ENST00000544863.1_Missense_Mutation_p.T183S NM_002610.3 NP_002601.1 Q15118 PDK1_HUMAN pyruvate dehydrogenase kinase, isozyme 1 338 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(117;0.12) ATGTATTCAACTGCACCAAGA 0.453000 Autosomal Dominant Polycystic Kidney Disease 8 27 0 0 1 0 0 DCAF10 79269 broad.mit.edu 37 9 37842147 37842147 + Missense_Mutation SNP C C A TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr9:37842147C>A ENST00000242323.7 + 3 789 c.715C>A c.(715-717)Ctg>Atg p.L239M RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000377724.3_Missense_Mutation_p.L239M Q5QP82 DCA10_HUMAN DDB1 and CUL4 associated factor 10 239 CUL4 RING ubiquitin ligase complex central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 12 ACTATGGGATCTGAGAAAATT 0.378000 21 26 2.89027e-11 3.12621e-11 1 1 0 GABRB2 0 broad.mit.edu 37 5 160972256 160972256 + Missense_Mutation SNP C C T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr5:160972256C>T ENST00000274547.2 - 4 431 c.214G>A c.(214-216)Gat>Aat p.D72N GABRB2_ENST00000393959.1_Missense_Mutation_p.D72N|GABRB2_ENST00000353437.6_Missense_Mutation_p.D72N|GABRB2_ENST00000517547.1_5'UTR|GABRB2_ENST00000520240.1_Missense_Mutation_p.D72N|GABRB2_ENST00000517901.1_Missense_Mutation_p.D9N NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 72 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GAAACCATATCGATGCTGGCA 0.458000 4 19 0 0 1 0 0 MRPL14 64928 broad.mit.edu 37 6 44084306 44084306 + Missense_Mutation SNP T T C TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr6:44084306T>C ENST00000372014.3 - 2 174 c.43A>G c.(43-45)Agc>Ggc p.S15G NM_032111.2 NP_115487.2 Q6P1L8 RM14_HUMAN mitochondrial ribosomal protein L14 15 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181) AGCACTCTGCTTACACAGGTG 0.463000 21 78 0 0 1 0 0 LPCAT4 254531 broad.mit.edu 37 15 34653605 34653605 + Missense_Mutation SNP T T A TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr15:34653605T>A ENST00000314891.6 - 11 1316 c.1139A>T c.(1138-1140)cAg>cTg p.Q380L NM_153613.2 NP_705841.2 Q643R3 LPCT4_HUMAN lysophosphatidylcholine acyltransferase 4 380 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1) 10 CTTTACCTGCTGGAAGTAGCC 0.562000 18 53 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363008 22363008 + Missense_Mutation SNP C C G TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr19:22363008C>G ENST00000397121.2 - 3 1828 c.1511G>C c.(1510-1512)cGc>cCc p.R504P NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 504 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ACATTTGTAGCGTTTCTCTCC 0.388000 6 81 0 0 1 0 0 SYMPK 8189 broad.mit.edu 37 19 46347341 46347341 + Missense_Mutation SNP C C A TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr19:46347341C>A ENST00000245934.7 - 8 1038 c.794G>T c.(793-795)cGc>cTc p.R265L NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 265 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) GGGTCTCTGGCGGGCGATATT 0.582000 4 64 1 1 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 3 51 0 0 1 0 0 OR52I2 143502 broad.mit.edu 37 11 4608686 4608686 + Missense_Mutation SNP C C T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr11:4608686C>T ENST00000312614.4 + 1 666 c.644C>T c.(643-645)gCc>gTc p.A215V NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A215V(1) endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ATAGCTTTGGCCAGGTTAGCA 0.512000 4 114 0 0 1 0 0 MRPL19 9801 broad.mit.edu 37 2 75881964 75881964 + Missense_Mutation SNP C C T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr2:75881964C>T ENST00000393909.2 + 5 603 c.578C>T c.(577-579)gCc>gTc p.A193V MRPL19_ENST00000358788.6_Intron|MRPL19_ENST00000409374.1_Missense_Mutation_p.A193V NM_014763.3 NP_055578.2 P49406 RM19_HUMAN mitochondrial ribosomal protein L19 193 translation mitochondrion|nuclear membrane|ribosome structural constituent of ribosome kidney(1)|large_intestine(1)|lung(6) 8 TTACGAGATGCCCTTCCTGAA 0.398000 3 46 0 0 1 0 0 NGF 4803 broad.mit.edu 37 1 115829055 115829055 + Missense_Mutation SNP C C T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr1:115829055C>T ENST00000369512.2 - 3 530 c.362G>A c.(361-363)cGg>cAg p.R121Q RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 121 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) GGATGATGACCGCTTGCTCCT 0.587000 4 25 0 0 1 0 0 NPY4R 0 broad.mit.edu 37 10 47086901 47086901 + Missense_Mutation SNP G G A rs148605550 byFrequency TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr10:47086901G>A ENST00000374312.1 + 3 537 c.118G>A c.(118-120)Gtg>Atg p.V40M NPY4R_ENST00000395716.1_Missense_Mutation_p.V40M NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 TTCCGTGGACGTGATGGTCTT 0.532000 17 76 0 0 1 0 0 PRDM8 56978 broad.mit.edu 37 4 81123237 81123237 + Silent SNP C C T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr4:81123237C>T ENST00000339711.4 + 10 1852 c.621C>T c.(619-621)ggC>ggT p.G207G PRDM8_ENST00000415738.2_Silent_p.G207G|PRDM8_ENST00000504452.1_Silent_p.G207G NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 207 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 gcggcggcggcggtggcaaag 0.657000 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 85 0 0 1 0 0 NUDCD2 134492 broad.mit.edu 37 5 162886970 162886970 + Silent SNP G G A TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr5:162886970G>A ENST00000302764.4 - 1 176 c.87C>T c.(85-87)ttC>ttT p.F29F NUDCD2_ENST00000517501.1_Silent_p.F29F NM_145266.4 NP_660309.1 Q8WVJ2 NUDC2_HUMAN NudC domain containing 2 29 CS. intracellular large_intestine(1)|prostate(1) 2 Renal(175;0.000281) Medulloblastoma(196;0.0207)|all_neural(177;0.0966) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247) GAACTTCAATGAACACCTCCT 0.667000 45 102 0 0 1 0 0 CRHR2 1395 broad.mit.edu 37 7 30721796 30721796 + Missense_Mutation SNP T T C TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr7:30721796T>C ENST00000471646.1 - 1 518 c.101A>G c.(100-102)gAg>gGg p.E34G CRHR2_ENST00000341843.4_Intron|CRHR2_ENST00000506074.2_Missense_Mutation_p.E34G|CRHR2_ENST00000348438.4_Intron NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 34 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CCGCCTACCCTCGGGGTCCAG 0.741000 4 7 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 3 43 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40321507 40321507 + Silent SNP G G A TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr17:40321507G>A ENST00000264661.3 - 9 1910 c.1578C>T c.(1576-1578)atC>atT p.I526I KCNH4_ENST00000607371.1_Silent_p.I526I NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 526 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CGTTGGCGTCGATGCCGCTGT 0.637000 9 25 0 0 1 0 0 DGKA 1606 broad.mit.edu 37 12 56334139 56334139 + Silent SNP G G A TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr12:56334139G>A ENST00000331886.5 + 11 1294 c.840G>A c.(838-840)ggG>ggA p.G280G DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Silent_p.G280G|DGKA_ENST00000394147.1_Silent_p.G280G NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 280 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) GTGAGTCCGGGCGCTGCGACC 0.587000 OREG0021913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 57 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167031818 167031818 + Missense_Mutation SNP T T C TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr3:167031818T>C ENST00000392766.2 - 16 1701 c.1361A>G c.(1360-1362)gAc>gGc p.D454G ZBBX_ENST00000392764.1_Missense_Mutation_p.D425G|ZBBX_ENST00000455345.2_Missense_Mutation_p.D454G|ZBBX_ENST00000307529.5_Missense_Mutation_p.D454G|ZBBX_ENST00000392767.2_Missense_Mutation_p.D454G NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 454 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 ATTTAAGAAGTCTCTCTTTCC 0.328000 4 175 0 0 1 0 0 WDSUB1 151525 broad.mit.edu 37 2 160105008 160105008 + Missense_Mutation SNP C C A TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr2:160105008C>A ENST00000409990.3 - 10 1404 c.1148G>T c.(1147-1149)cGt>cTt p.R383L WDSUB1_ENST00000409124.1_Intron|WDSUB1_ENST00000392796.3_Missense_Mutation_p.R383L|WDSUB1_ENST00000359774.4_Missense_Mutation_p.R383L|WDSUB1_ENST00000358147.4_Missense_Mutation_p.R291L NM_001128213.1 NP_001121685.1 Q8N9V3 WSDU1_HUMAN WD repeat, sterile alpha motif and U-box domain containing 1 383 SAM. ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3) 16 CACTTTACTACGCAGTCCTAG 0.363000 3 49 1 1 1 1 0 ABCC12 94160 broad.mit.edu 37 16 48158140 48158140 + Missense_Mutation SNP G G T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr16:48158140G>T ENST00000311303.3 - 10 1916 c.1571C>A c.(1570-1572)gCa>gAa p.A524E ABCC12_ENST00000416054.1_Missense_Mutation_p.A524E|ABCC12_ENST00000448542.1_Missense_Mutation_p.A524E NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 524 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TAGGAGAGCTGCAAGGAGGGA 0.517000 4 124 2.56e-06 2.66039e-06 1 1 0 HMCN1 83872 broad.mit.edu 37 1 186105941 186105941 + Missense_Mutation SNP G G A TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr1:186105941G>A ENST00000271588.4 + 87 13683 c.13454G>A c.(13453-13455)cGg>cAg p.R4485Q HMCN1_ENST00000367492.2_Missense_Mutation_p.R4485Q NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4485 Ig-like C2-type 44. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGGGATGACCGGGTTAACGTG 0.433000 13 36 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43233377 43233377 + Missense_Mutation SNP T T A TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr19:43233377T>A ENST00000327495.5 - 5 1325 c.1141A>T c.(1141-1143)Atc>Ttc p.I381F PSG3_ENST00000595140.1_Missense_Mutation_p.I381F NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 381 Ig-like C2-type 3. Missing (in Ref. 9). defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) ATCTGGGGGATAAAGAGCTTT 0.458000 17 188 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86838595 86838595 + Missense_Mutation SNP C C T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr15:86838595C>T ENST00000441037.2 + 16 2287 c.2192C>T c.(2191-2193)aCg>aTg p.T731M AGBL1_ENST00000421325.2_Missense_Mutation_p.T731M|AGBL1_ENST00000389298.3_Missense_Mutation_p.T462M NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 731 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GTGACCATCACGGCCATGCCT 0.498000 32 46 0 0 1 0 0 GJA5 2702 broad.mit.edu 37 1 147230323 147230323 + Nonsense_Mutation SNP G G A TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr1:147230323G>A ENST00000271348.2 - 2 1185 c.1024C>T c.(1024-1026)Cga>Tga p.R342* RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Nonsense_Mutation_p.R342* NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 342 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) CTAAGACGTCGCTTGTCACTA 0.547000 19 46 0 0 1 0 0 ZNF33A 7581 broad.mit.edu 37 10 38343641 38343641 + Missense_Mutation SNP A A G TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr10:38343641A>G ENST00000374618.3 + 5 767 c.589A>G c.(589-591)Agg>Ggg p.R197G ZNF33A_ENST00000458705.2_Missense_Mutation_p.R196G|ZNF33A_ENST00000307441.9_Missense_Mutation_p.R196G|ZNF33A_ENST00000432900.2_Missense_Mutation_p.R203G|ZNF33A_ENST00000469037.2_Intron NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 196 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 TTTGAAAAATAGGAACACACT 0.343000 21 28 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64601793 64601793 + Missense_Mutation SNP C C T rs113699218 byFrequency TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr3:64601793C>T ENST00000498707.1 - 20 3209 c.2867G>A c.(2866-2868)cGc>cAc p.R956H ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R928H NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 956 TSP type-1 3. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GTCCAATGTGCGGTAACCCAA 0.458000 6 164 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134075498 134075498 + Missense_Mutation SNP G G A TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr4:134075498G>A ENST00000264360.4 + 2 3494 c.2668G>A c.(2668-2670)Gac>Aac p.D890N NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 890 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CTATCTAGTTGACAGACCTCG 0.373000 13 34 0 0 1 0 0 PEBP4 157310 broad.mit.edu 37 8 22675245 22675245 + Missense_Mutation SNP C C T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr8:22675245C>T ENST00000256404.6 - 4 353 c.262G>A c.(262-264)Gca>Aca p.A88T PEBP4_ENST00000521284.1_5'UTR NM_144962.2 NP_659399.2 Q96S96 PEBP4_HUMAN phosphatidylethanolamine-binding protein 4 88 lysosome breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2) 10 Prostate(55;0.0453)|Breast(100;0.103) Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124) ATATAGGTTGCGCCCTGTAAC 0.493000 3 58 0 0 1 0 0 TRMT10C 54931 broad.mit.edu 37 3 101284665 101284665 + Missense_Mutation SNP G G T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr3:101284665G>T ENST00000309922.6 + 2 1194 c.1040G>T c.(1039-1041)gGt>gTt p.G347V NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) TGGGAAATTGGTAACAAAAAT 0.393000 14 15 3.27435e-08 3.47081e-08 1 1 0 MICAL3 57553 broad.mit.edu 37 22 18368694 18368694 + Missense_Mutation SNP C C T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr22:18368694C>T ENST00000441493.2 - 16 2543 c.2191G>A c.(2191-2193)Gcc>Acc p.A731T MICAL3_ENST00000429452.1_Missense_Mutation_p.A731T|MICAL3_ENST00000383094.3_Missense_Mutation_p.A731T|MICAL3_ENST00000400561.2_Missense_Mutation_p.A731T|MICAL3_ENST00000414725.2_Missense_Mutation_p.A731T|MICAL3_ENST00000207726.7_Missense_Mutation_p.A731T|MICAL3_ENST00000585038.1_Missense_Mutation_p.A731T|MICAL3_ENST00000444520.1_Missense_Mutation_p.A731T NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 731 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) TCAAATTTGGCCAGCAGCTGG 0.557000 4 106 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 31355278 31355278 + Missense_Mutation SNP G G A TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr17:31355278G>A ENST00000225823.2 - 4 1992 c.1120C>T c.(1120-1122)Cgc>Tgc p.R374C ASIC2_ENST00000359872.6_Missense_Mutation_p.R323C|ASIC2_ENST00000448983.1_5'UTR NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 323 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) TGAACCATGCGGCAGTTGCAG 0.557000 7 25 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52548185 52548185 + Missense_Mutation SNP C C T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr3:52548185C>T ENST00000321725.6 + 33 3578 c.3502C>T c.(3502-3504)Ccc>Tcc p.P1168S NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1168 FAS1 4. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CATCTTTGTGCCCACCAACCG 0.622000 4 45 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29296438 29296438 + Silent SNP G G A TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr2:29296438G>A ENST00000331664.5 - 1 689 c.690C>T c.(688-690)agC>agT p.S230S NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 230 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CCAACAGCTGGCTGATCTCCT 0.557000 24 57 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947268 237947268 + Missense_Mutation SNP C C T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr1:237947268C>T ENST00000366574.2 + 90 12573 c.12256C>T c.(12256-12258)Cgc>Tgc p.R4086C RYR2_ENST00000542537.1_Missense_Mutation_p.R4070C|RYR2_ENST00000360064.6_Missense_Mutation_p.R4092C NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4086 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTTCGTCAAACGCTTCCACGA 0.507000 12 17 0 0 1 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142567247 142567247 + Missense_Mutation SNP C C T rs144482227 TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr3:142567247C>T ENST00000295992.3 - 3 566 c.260G>A c.(259-261)cGc>cAc p.R87H PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R87H NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 87 CUB 1. extracellular region collagen binding|heparin binding|peptidase activator activity p.R87H(2) NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 AAAGTCATAGCGGCACAGGTT 0.517000 4 109 0 0 1 0 0 SLC22A8 9376 broad.mit.edu 37 11 62761339 62761339 + Missense_Mutation SNP C C T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr11:62761339C>T ENST00000336232.2 - 9 1363 c.1228G>A c.(1228-1230)Gtg>Atg p.V410M SLC22A8_ENST00000535878.1_Missense_Mutation_p.V287M|SLC22A8_ENST00000311438.8_Missense_Mutation_p.V410M|SLC22A8_ENST00000545207.1_Missense_Mutation_p.V319M|SLC22A8_ENST00000430500.2_Missense_Mutation_p.V410M NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 410 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 ACTGTCCTCACGGTCTGCAAG 0.498000 3 53 0 0 1 0 0 EVI2B 2124 broad.mit.edu 37 17 29632323 29632323 + Missense_Mutation SNP A A G TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr17:29632323A>G ENST00000330927.4 - 2 459 c.305T>C c.(304-306)cTt>cCt p.L102P CTD-2370N5.3_ENST00000578584.1_3'UTR|EVI2B_ENST00000544462.1_Missense_Mutation_p.L117P|EVI2B_ENST00000577894.1_Missense_Mutation_p.L102P|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron NM_006495.3 NP_006486.3 P34910 EVI2B_HUMAN ecotropic viral integration site 2B 102 cytoplasm|integral to plasma membrane p.0?(8)|p.?(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) GTTGTAGGCAAGTGGTTGTCC 0.493000 48 92 0 0 1 0 0 RFX7 64864 broad.mit.edu 37 15 56386857 56386857 + Silent SNP C C T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr15:56386857C>T ENST00000423270.1 - 9 3068 c.3069G>A c.(3067-3069)ccG>ccA p.P1023P RFX7_ENST00000317318.6_Silent_p.P1023P|RFX7_ENST00000559447.2_Silent_p.P926P|RFX7_ENST00000422057.1_Silent_p.P926P NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 926 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 TGAATGCAAACGGATTCCTGC 0.498000 13 29 0 0 1 0 0 SBSPON 157869 broad.mit.edu 37 8 73979646 73979646 + Missense_Mutation SNP C C T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr8:73979646C>T ENST00000297354.6 - 5 929 c.725G>A c.(724-726)gGa>gAa p.G242E SBSPON_ENST00000519697.1_5'UTR NM_153225.3 NP_694957.3 Q8IVN8 RPESP_HUMAN somatomedin B and thrombospondin, type 1 domain containing 242 immune response extracellular region polysaccharide binding|scavenger receptor activity TTTCCAAGTTCCTTGACACCG 0.368000 50 38 0 0 1 0 0 HIST1H2BE 8344 broad.mit.edu 37 6 26184299 26184299 + Silent SNP C C T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr6:26184299C>T ENST00000356530.3 + 1 342 c.276C>T c.(274-276)tcC>tcT p.S92S NM_003523.2 NP_003514.2 P62807 H2B1C_HUMAN histone cluster 1, H2be 92 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(1) 4 CCATCACCTCCAGGGAGATCC 0.617000 4 88 0 0 1 0 0 SYT17 51760 broad.mit.edu 37 16 19194989 19194989 + Silent SNP C C T TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr16:19194989C>T ENST00000562034.1 + 3 4086 c.288C>T c.(286-288)ttC>ttT p.F96F SYT17_ENST00000355377.2_Silent_p.F157F|SYT17_ENST00000562711.2_Silent_p.F153F|SYT17_ENST00000568115.1_Silent_p.F96F Q9BSW7 SYT17_HUMAN synaptotagmin XVII 157 membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 TCAGGAAGTTCGAACCCCACC 0.547000 3 46 0 0 1 0 0 RNPC3 55599 broad.mit.edu 37 1 104094378 104094378 + Frame_Shift_Del DEL T T - TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr1:104094378delT ENST00000533099.1 + 15 1766 c.1530delT c.(1528-1530)ccfs p.P510fs RNPC3_ENST00000524631.1_Frame_Shift_Del_p.P509fs|RNPC3_ENST00000423855.2_Frame_Shift_Del_p.P510fs Q96LT9 RBM40_HUMAN RNA-binding region (RNP1, RRM) containing 3 510 mRNA processing U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163) AACAAGATCCTAAGGAAGGAA 0.254 2 4 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 144992095 144992096 + Frame_Shift_Ins INS - - TA TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr8:144992095_144992096insTA ENST00000322810.4 - 32 12473_12474 c.12304_12305insTA c.(12304-12306)gctfs p.A4102fs PLEC_ENST00000527096.1_Frame_Shift_Ins_p.A3988fs|PLEC_ENST00000345136.3_Frame_Shift_Ins_p.A3965fs|PLEC_ENST00000354958.2_Frame_Shift_Ins_p.A3943fs|PLEC_ENST00000357649.2_Frame_Shift_Ins_p.A3969fs|PLEC_ENST00000436759.2_Frame_Shift_Ins_p.A3992fs|PLEC_ENST00000356346.3_Frame_Shift_Ins_p.A3951fs|PLEC_ENST00000398774.2_Frame_Shift_Ins_p.A3933fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.A3965fs NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4102 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CTCCAGGAGCTCAAAGGCTGTG 0.639 8 30 --- --- --- --- NCAPD3 23310 broad.mit.edu 37 11 134054795 134054797 + Splice_Site DEL CAC CAC - TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr11:134054795_134054797delCAC ENST00000534548.2 - 18 2400 c.e18+1 RP11-700F16.3_ENST00000531710.1_RNA NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) AGCAGACACTCACCAGTCACTTT 0.438 119 246 --- --- --- --- NFATC4 4776 broad.mit.edu 37 14 24837630 24837630 + Frame_Shift_Del DEL G G - TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr14:24837630delG ENST00000413692.2 + 2 417 c.273delG c.(271-273)gcfs p.A91fs NFATC4_ENST00000250373.4_Frame_Shift_Del_p.A28fs|NFATC4_ENST00000424781.2_Frame_Shift_Del_p.A41fs|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000556279.1_Frame_Shift_Del_p.A60fs|NFATC4_ENST00000555590.1_Frame_Shift_Del_p.A41fs|NFATC4_ENST00000554966.1_Frame_Shift_Del_p.A41fs|NFATC4_ENST00000553469.1_Frame_Shift_Del_p.A60fs|NFATC4_ENST00000554050.1_Frame_Shift_Del_p.A28fs|NFATC4_ENST00000539237.2_Frame_Shift_Del_p.A60fs|NFATC4_ENST00000553708.1_Frame_Shift_Del_p.A28fs|NFATC4_ENST00000554591.1_Frame_Shift_Del_p.A91fs NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 28 Pro-rich. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) CGCTGGGCGCGGGGGGATTGG 0.657 2 4 --- --- --- --- GATA6 2627 broad.mit.edu 37 18 19752073 19752075 + In_Frame_Del DEL ACC ACC - TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chr18:19752073_19752075delACC ENST00000269216.3 + 2 1245_1247 c.968_970delACC c.(967-972)tac>t p.YH323del GATA6_ENST00000581694.1_In_Frame_Del_p.YH323del NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 323 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) AACGGGACGTaccaccaccacca 0.749 3 5 --- --- --- --- TBL1X 6907 broad.mit.edu 37 X 9656280 9656280 + Frame_Shift_Del DEL C C - TCGA-XK-AAJT-01A-11D-A41K-08 TCGA-XK-AAJT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21e0de1c-8cdc-4b26-ba3f-e13f863af312 8d1a3e2a-d051-4c36-89a2-dcf617cc1ea3 g.chrX:9656280delC ENST00000217964.7 + 7 1221 c.581delC c.(580-582)agfs p.T194fs TBL1X_ENST00000536365.1_Frame_Shift_Del_p.T143fs|TBL1X_ENST00000407597.2_Frame_Shift_Del_p.T194fs|TBL1X_ENST00000380961.1_Frame_Shift_Del_p.T143fs|TBL1X_ENST00000424279.1_Frame_Shift_Del_p.T143fs NM_005647.3 NP_005638.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked 194 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) AGAGAGGCCACGGTGAATGGG 0.612 2 4 --- --- --- ---