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 COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_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 ACHILLES_Lineage_Results_Top_Genes CGC_CancerGermlineMut CGC_CancerMolecularGenetics CGC_CancerSomaticMut CGC_CancerSyndrome CGC_Chr CGC_ChrBand CGC_GeneID CGC_Name CGC_OtherGermlineMut CGC_TissueType COSMIC_n_overlapping_mutations COSMIC_overlapping_mutation_descriptions ClinVar_ASSEMBLY ClinVar_HGMD_ID ClinVar_SYM ClinVar_TYPE ClinVar_rs Ensembl_so_accession Ensembl_so_term Familial_Cancer_Genes_Reference Familial_Cancer_Genes_Synonym annotation_transcript bcgsc broad build ccds_id dbNSFP_1000Gp1_AC dbNSFP_1000Gp1_AF dbNSFP_1000Gp1_AFR_AC dbNSFP_1000Gp1_AFR_AF dbNSFP_1000Gp1_AMR_AC dbNSFP_1000Gp1_AMR_AF dbNSFP_1000Gp1_ASN_AC dbNSFP_1000Gp1_ASN_AF dbNSFP_1000Gp1_EUR_AC dbNSFP_1000Gp1_EUR_AF dbNSFP_Ancestral_allele dbNSFP_CADD_phred dbNSFP_CADD_raw dbNSFP_CADD_raw_rankscore dbNSFP_ESP6500_AA_AF dbNSFP_ESP6500_EA_AF dbNSFP_Ensembl_geneid dbNSFP_Ensembl_transcriptid dbNSFP_FATHMM_pred dbNSFP_FATHMM_rankscore dbNSFP_FATHMM_score dbNSFP_GERP_NR dbNSFP_GERP_RS dbNSFP_GERP_RS_rankscore dbNSFP_Interpro_domain dbNSFP_LRT_Omega dbNSFP_LRT_converted_rankscore dbNSFP_LRT_pred dbNSFP_LRT_score dbNSFP_LR_pred dbNSFP_LR_rankscore dbNSFP_LR_score dbNSFP_MutationAssessor_pred dbNSFP_MutationAssessor_rankscore dbNSFP_MutationAssessor_score dbNSFP_MutationTaster_converted_rankscore dbNSFP_MutationTaster_pred dbNSFP_MutationTaster_score dbNSFP_Polyphen2_HDIV_pred dbNSFP_Polyphen2_HDIV_rankscore dbNSFP_Polyphen2_HDIV_score dbNSFP_Polyphen2_HVAR_pred dbNSFP_Polyphen2_HVAR_rankscore dbNSFP_Polyphen2_HVAR_score dbNSFP_RadialSVM_pred dbNSFP_RadialSVM_rankscore dbNSFP_RadialSVM_score dbNSFP_Reliability_index dbNSFP_SIFT_converted_rankscore dbNSFP_SIFT_pred dbNSFP_SIFT_score dbNSFP_SLR_test_statistic dbNSFP_SiPhy_29way_logOdds dbNSFP_SiPhy_29way_logOdds_rankscore dbNSFP_SiPhy_29way_pi dbNSFP_UniSNP_ids dbNSFP_Uniprot_aapos dbNSFP_Uniprot_acc dbNSFP_Uniprot_id dbNSFP_aaalt dbNSFP_aapos dbNSFP_aapos_FATHMM dbNSFP_aapos_SIFT dbNSFP_aaref dbNSFP_cds_strand dbNSFP_codonpos dbNSFP_folddegenerate dbNSFP_genename dbNSFP_hg18_pos1coor dbNSFP_phastCons100way_vertebrate dbNSFP_phastCons100way_vertebrate_rankscore dbNSFP_phastCons46way_placental dbNSFP_phastCons46way_placental_rankscore dbNSFP_phastCons46way_primate dbNSFP_phastCons46way_primate_rankscore dbNSFP_phyloP100way_vertebrate dbNSFP_phyloP100way_vertebrate_rankscore dbNSFP_phyloP46way_placental dbNSFP_phyloP46way_placental_rankscore dbNSFP_phyloP46way_primate dbNSFP_phyloP46way_primate_rankscore dbNSFP_refcodon entrez_gene_id external_id_capture gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_type havana_transcript hgsc igv_bad ucsc t_alt_count t_ref_count n_alt_count n_ref_count validation_judgement_rna validation_power_rna validation_tumor_alt_count_rna validation_tumor_ref_count_rna validation_normal_alt_count_rna validation_normal_ref_count_rna min_val_count_rna validation_judgement_targeted validation_power_targeted validation_tumor_alt_count_targeted validation_tumor_ref_count_targeted validation_normal_alt_count_targeted validation_normal_ref_count_targeted min_val_count_targeted validation_judgement_localAssembly validation_power_localAssembly t_alt_count_localAssembly t_ref_count_localAssembly n_alt_count_localAssembly n_ref_count_localAssembly min_val_count_localAssembly validation_judgement_KRAS validation_power_KRAS t_alt_count_KRAS t_ref_count_KRAS n_alt_count_KRAS n_ref_count_KRAS min_val_count_KRAS pon_loglike pon_pass_loglike localAssembly_detected ExAC_AN ExAC_AC ExAC_LQ passExAC SCNA_NA SCNA_NB SCNA_q_hat SCNA_tau IS_SCNA purity ploidy dna_fraction_in_tumor CCF_hat CCF_CI95_low CCF_CI95_high CCF_mode CCF_mean CCF_median clonal CCF_CI_low CCF_CI_high OC90 729330 broad.mit.edu 37 8 133048648 133048648 + Frame_Shift_Del DEL C C - TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr8:133048648delC ENST00000443356.2 - 10 783 c.697delG c.(697-699)gctfs p.A233fs OC90_ENST00000254627.3_Intron|OC90_ENST00000262283.5_Frame_Shift_Del_p.A429fs|OC90_ENST00000603859.1_Intron Q02509 OC90_HUMAN otoconin 90 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) AGTCTGTCAGCCTCAGTCTCT 0.443000 0 SO:0001589 frameshift_variant ENST00000443356.2 1 1 hg19 TCGA-F2-A7TX-01A-33D-A38G-08 OC90-201 KNOWN basic protein_coding protein_coding 0 0 0 91 516 0 188 0 0 0 0 0 0 0 0 0 0 0 0 1 1.000000 100 509 0 186 2 0 0 0 0 0 0 -3.076112 1 1 0 0 1 3 3 6 2.460283 1 0.190000 3.450000 0.413043 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 ABLIM1 3983 broad.mit.edu 37 10 116307515 116307515 + Missense_Mutation SNP C C G TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 C G C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr10:116307515C>G ENST00000277895.5 - 5 791 c.694G>C c.(694-696)Gat>Cat p.D232H ABLIM1_ENST00000533213.2_Missense_Mutation_p.D172H|ABLIM1_ENST00000369252.4_Missense_Mutation_p.D172H NM_002313.5 NP_002304.3 O14639 ABLM1_HUMAN actin binding LIM protein 1 30 Colorectal(252;0.0373)|Breast(234;0.231) TTCTTGATATCTCTTCCGCAG 0.537000 0 SO:0001583 missense ENST00000277895.5 1 1 hg19 CCDS7590.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 31|31 5.080432|5.080432 0.94050|0.94050 .|. .|. ENSG00000099204|ENSG00000099204 ENST00000336585;ENST00000369252;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895|ENST00000392955 D;D;D|. 0.87412|. -2.25;-2.25;-2.25|. 5.66|5.66 5.66|5.66 0.87406|0.87406 Zinc finger, LIM-type (5);|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.50480|0.50480 0.1618|0.1618 N|N 0.11756|0.11756 0.17|0.17 0.80722|0.80722 D|D 1|1 D;D;D;D;D;D|. 0.89917|. 1.0;1.0;1.0;0.998;0.98;0.997|. D;D;D;D;D;D|. 0.91635|. 0.989;0.999;0.993;0.99;0.931;0.95|. T|T 0.44205|0.44205 -0.9343|-0.9343 10|5 0.87932|. D|. 0|. .|. 19.7538|19.7538 0.96281|0.96281 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 156;172;172;232;172;156|. B7Z4H1;F8W8M4;A6NKJ2;O14639;B3KVH2;C9K0X4|. .;.;.;ABLM1_HUMAN;.;.|. H|D 232;172;172;172;232;156;156;156;232|140 ENSP00000358256:D172H;ENSP00000433629:D172H;ENSP00000277895:D232H|. ENSP00000277895:D232H|. D|E -|- 1|3 0|2 ABLIM1|ABLIM1 116297505|116297505 1.000000|1.000000 0.71417|0.71417 0.997000|0.997000 0.53966|0.53966 0.930000|0.930000 0.56654|0.56654 7.640000|7.640000 0.83355|0.83355 2.690000|2.690000 0.91761|0.91761 0.655000|0.655000 0.94253|0.94253 GAT|GAG TCGA-F2-A7TX-01A-33D-A38G-08 ABLIM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050469.3 1 0 1 58 133 0 80 1 9.997122e-01 14 18 0 80 2 0 0 0 0 0 2 1 1.000000 57 131 0 80 2 0 0 0 0 80 2 -20.000000 1 1 0 0 1 0 4 4 2.119681 1 0.190000 3.450000 0.319328 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 CAMK1D 57118 broad.mit.edu 37 10 12870810 12870810 + Missense_Mutation SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr10:12870810C>T ENST00000378847.3 + 11 1419 c.1082C>T c.(1081-1083)tCg>tTg p.S361L NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 16 TCTTCTTCGTCGGGGGTCTCA 0.592000 0 SO:0001583 missense ENST00000378847.3 1 1 hg19 CCDS7091.1 . . . . . . . . . . C 16.94 3.260463 0.59431 . . ENSG00000183049 ENST00000378847 T 0.68479 -0.33 5.39 5.39 0.77823 . 0.318671 0.30695 N 0.009065 T 0.52240 0.1722 N 0.22421 0.69 0.80722 D 1 B 0.30634 0.288 B 0.19148 0.024 T 0.54476 -0.8288 10 0.51188 T 0.08 -3.006 16.3016 0.82820 0.0:1.0:0.0:0.0 . 361 Q8IU85 KCC1D_HUMAN L 361 ENSP00000368124:S361L ENSP00000368124:S361L S + 2 0 CAMK1D 12910816 0.995000 0.38212 0.026000 0.17262 0.974000 0.67602 5.608000 0.67654 2.518000 0.84900 0.655000 0.94253 TCG TCGA-F2-A7TX-01A-33D-A38G-08 CAMK1D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046820.1 1 0 0 36 418 0 168 1 7.346466e-01 3 29 0 168 2 0 0 0 0 0 2 1 1.000000 34 413 0 168 2 0 0 0 0 168 2 -9.684724 1 1 0 0 1 0 4 4 2.104230 1 0.190000 3.450000 0.319328 0.990000 0.710000 1.000000 1.000000 0.942124 0.990000 1 0.840000 1.000000 ADM 133 broad.mit.edu 37 11 10327978 10327978 + Silent SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr11:10327978G>A ENST00000528655.1 + 3 965 c.348G>A c.(346-348)acG>acA p.T116T ADM_ENST00000526492.1_Missense_Mutation_p.G127S|ADM_ENST00000534464.1_Silent_p.T69T|ADM_ENST00000278175.5_Silent_p.T116T|ADM_ENST00000530439.1_Silent_p.T48T|RP11-351I24.1_ENST00000526906.1_RNA|ADM_ENST00000525063.1_Silent_p.T116T P35318 ADML_HUMAN adrenomedullin 6 GGACGTGCACGGTGCAGAAGC 0.642000 0 SO:0001819 synonymous_variant ENST00000528655.1 0 1 hg19 CCDS7801.1 . . . . . . . . . . G 13.83 2.354363 0.41700 . . ENSG00000148926 ENST00000526492 T 0.38887 1.11 5.58 -8.42 0.00957 . . . . . T 0.33059 0.0850 . . . 0.09310 N 0.999995 . . . . . . T 0.51044 -0.8755 6 0.87932 D 0 -19.2336 5.6872 0.17809 0.2155:0.3914:0.3179:0.0752 . . . . S 127 ENSP00000434354:G127S ENSP00000434354:G127S G + 1 0 ADM 10284554 0.101000 0.21875 0.568000 0.28447 0.908000 0.53690 -1.312000 0.02720 -1.324000 0.02272 -1.567000 0.00876 GGT TCGA-F2-A7TX-01A-33D-A38G-08 ADM-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387008.1 0 0 0 4 180 0 64 0 3.595542e-01 0 48 0 64 2 0 0 0 0 0 2 1 0.888693 4 178 0 63 2 0 0 0 0 64 2 -3.677356 1 1 0 0 1 2 2 4 2.090885 0 0.190000 3.450000 0.319328 0.300000 0.100000 0.640000 0.280000 0.332803 0.300000 0 0.180000 0.470000 NPAT 4863 broad.mit.edu 37 11 108040579 108040579 + Splice_Site SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr11:108040579C>T ENST00000278612.8 - 15 3007 c.2902G>A c.(2902-2904)Gtt>Att p.V968I NPAT_ENST00000610253.1_5'Flank NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) ATATGAAGAACCTGGAAGAGA 0.423000 0 SO:0001630 splice_region_variant ENST00000278612.8 1 0 hg19 CCDS41710.1 . . . . . . . . . . C 14.55 2.568083 0.45798 . . ENSG00000149308 ENST00000278612 T 0.04758 3.56 5.39 4.48 0.54585 . 0.154045 0.43747 D 0.000523 T 0.07007 0.0178 M 0.66939 2.045 0.44890 D 0.997906 B 0.19583 0.037 B 0.19148 0.024 T 0.13791 -1.0496 10 0.33141 T 0.24 -6.2259 8.9418 0.35733 0.0:0.7759:0.0:0.2241 . 968 Q14207 NPAT_HUMAN I 968 ENSP00000278612:V968I ENSP00000278612:V968I V - 1 0 NPAT 107545789 1.000000 0.71417 1.000000 0.80357 0.860000 0.49131 1.857000 0.39399 1.408000 0.46895 -0.237000 0.12165 GTT TCGA-F2-A7TX-01A-33D-A38G-08 NPAT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389506.2 1 0 0 41 429 0 175 1 6.118798e-01 3 20 0 175 2 0 0 0 0 0 2 1 1.000000 42 422 0 174 2 0 0 0 0 175 2 -20.000000 1 1 0 0 1 2 2 4 2.093922 0 0.190000 3.450000 0.319328 0.990000 0.800000 1.000000 1.000000 0.976908 0.990000 1 0.940000 1.000000 TECTA 7007 broad.mit.edu 37 11 121023690 121023690 + Silent SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr11:121023690C>T ENST00000392793.1 + 13 4477 c.4206C>T c.(4204-4206)tgC>tgT p.C1402C TECTA_ENST00000264037.2_Silent_p.C1402C O75443 TECTA_HUMAN tectorin alpha TECTA/TBCEL(2) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) GCCACTACTGCGTGGAGGGCT 0.622000 0 SO:0001819 synonymous_variant ENST00000392793.1 1 1 hg19 CCDS8434.1 TCGA-F2-A7TX-01A-33D-A38G-08 TECTA-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313850.1 1 0 0 9 160 0 68 0 0 0 0 68 2 0 0 0 0 0 2 1 0.993812 9 155 0 67 2 0 0 0 0 68 2 -12.313410 1 1 121410 2 31 1 2 2 4 2.093922 0 0.190000 3.450000 0.319328 0.690000 0.340000 1.000000 1.000000 0.707624 0.690000 0 0.490000 0.930000 TRIM68 55128 broad.mit.edu 37 11 4623634 4623634 + Silent SNP C C A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr11:4623634C>A ENST00000300747.5 - 4 820 c.531G>T c.(529-531)gtG>gtT p.V177V NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) TTCGGGTTTCCACCTGTATCT 0.463000 0 SO:0001819 synonymous_variant ENST00000300747.5 1 1 hg19 CCDS31356.1 TCGA-F2-A7TX-01A-33D-A38G-08 TRIM68-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385948.1 1 0 0 8 239 0 93 0 2.623025e-02 0 7 0 93 2 0 0 0 0 0 2 1 0.989171 7 237 0 93 2 0 0 0 0 93 2 -3.193088 1 1 0 0 1 2 2 4 2.090885 0 0.190000 3.450000 0.319328 0.420000 0.190000 0.750000 0.400000 0.448765 0.420000 0 0.290000 0.590000 MTNR1B 4544 broad.mit.edu 37 11 92715454 92715454 + Silent SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr11:92715454G>A ENST00000257068.2 + 2 1071 c.1065G>A c.(1063-1065)gtG>gtA p.V355V NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980) TCATTGGTGTGCAGCACCAGG 0.582000 0 SO:0001819 synonymous_variant ENST00000257068.2 1 1 hg19 CCDS8290.1 TCGA-F2-A7TX-01A-33D-A38G-08 MTNR1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394323.1 1 0 1 50 264 0 129 0 0 0 0 129 2 0 0 0 0 0 2 1 1.000000 49 260 0 128 2 0 0 0 0 129 2 -20.000000 1 1 0 0 1 2 2 4 2.093922 0 0.190000 3.450000 0.319328 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 MTNR1B 4544 broad.mit.edu 37 11 92715455 92715455 + Nonsense_Mutation SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr11:92715455C>T ENST00000257068.2 + 2 1072 c.1066C>T c.(1066-1068)Cag>Tag p.Q356* NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980) CATTGGTGTGCAGCACCAGGC 0.587000 0 SO:0001587 stop_gained ENST00000257068.2 0 1 hg19 CCDS8290.1 . . . . . . . . . . C 16.20 3.057149 0.55325 . . ENSG00000134640 ENST00000257068 . . . 4.33 1.14 0.20703 . 0.742407 0.11795 N 0.528738 . . . . . . 0.22903 N 0.998589 . . . . . . . . . . 0.46703 T 0.11 0.0638 5.3884 0.16229 0.3637:0.5314:0.0:0.1049 . . . . X 356 . ENSP00000257068:Q356X Q + 1 0 MTNR1B 92355103 0.000000 0.05858 0.000000 0.03702 0.501000 0.33797 0.212000 0.17497 0.328000 0.23435 0.313000 0.20887 CAG TCGA-F2-A7TX-01A-33D-A38G-08 MTNR1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394323.1 1 0 1 51 259 0 127 0 0 0 0 127 2 0 0 0 0 0 2 1 1.000000 50 255 0 126 2 0 0 0 0 127 2 -3.249722 1 1 121412 1 31 1 2 2 4 2.093922 0 0.190000 3.450000 0.319328 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 IQCD 115811 broad.mit.edu 37 12 113645289 113645289 + Missense_Mutation SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr12:113645289G>A ENST00000416617.2 - 2 873 c.683C>T c.(682-684)aCt>aTt p.T228I IQCD_ENST00000546692.1_Missense_Mutation_p.T228I|IQCD_ENST00000299732.2_Missense_Mutation_p.T228I Q96DY2 IQCD_HUMAN IQ motif containing D 12 CTTTTCAAGAGTATCAATGAT 0.378000 0 SO:0001583 missense ENST00000416617.2 1 1 hg19 . . . . . . . . . . G 9.256 1.041929 0.19748 . . ENSG00000166578 ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574 T;T;T 0.23147 2.85;2.85;1.92 5.25 -1.09 0.09904 . 1.285360 0.05512 N 0.560377 T 0.22704 0.0548 L 0.56769 1.78 0.09310 N 1 B;B 0.21147 0.052;0.002 B;B 0.15052 0.012;0.007 T 0.33059 -0.9883 10 0.46703 T 0.11 2.6825 2.9086 0.05730 0.1569:0.0995:0.418:0.3256 . 228;228 F8VZV9;Q96DY2-2 .;. I 228 ENSP00000299732:T228I;ENSP00000400669:T228I;ENSP00000446623:T228I ENSP00000299732:T228I T - 2 0 IQCD 112129672 0.000000 0.05858 0.000000 0.03702 0.014000 0.08584 0.233000 0.17911 -0.073000 0.12842 0.563000 0.77884 ACT TCGA-F2-A7TX-01A-33D-A38G-08 IQCD-004 KNOWN not_organism_supported|basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000405327.1 1 0 1 100 594 0 250 1 1.560253e-01 2 3 0 250 2 0 0 0 0 0 2 1 1.000000 98 583 0 250 2 0 0 0 0 250 2 -20.000000 1 1 0 0 1 2 3 5 2.051061 0 0.190000 3.450000 0.308284 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 TMEM132D 121256 broad.mit.edu 37 12 130184899 130184899 + Missense_Mutation SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr12:130184899G>A ENST00000422113.2 - 2 750 c.424C>T c.(424-426)Cgg>Tgg p.R142W RP11-174M13.2_ENST00000544036.1_lincRNA NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) ACTTTGGGCCGGCTCAGGTAG 0.527000 0 SO:0001583 missense ENST00000422113.2 1 1 hg19 CCDS9266.1 . . . . . . . . . . G 9.165 1.019720 0.19355 0.0 1.16E-4 ENSG00000151952 ENST00000422113 T 0.12984 2.63 5.33 3.3 0.37823 . 0.515638 0.16729 N 0.201915 T 0.16599 0.0399 M 0.71036 2.16 0.23449 N 0.997652 B 0.22211 0.066 B 0.12156 0.007 T 0.10894 -1.0610 9 . . . -20.3601 11.7484 0.51835 0.0:0.0:0.3963:0.6037 . 142 Q14C87 T132D_HUMAN W 142 ENSP00000408581:R142W . R - 1 2 TMEM132D 128750852 0.995000 0.38212 0.978000 0.43139 0.278000 0.26855 1.468000 0.35332 1.208000 0.43306 -0.324000 0.08512 CGG TCGA-F2-A7TX-01A-33D-A38G-08 TMEM132D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000399592.1 1 0 1 30 171 0 65 0 2.395441e-02 0 2 0 65 2 0 0 0 0 0 2 1 1.000000 30 166 0 65 2 0 0 0 0 65 2 -20.000000 1 1 121410 1 28 1 2 3 5 2.051061 0 0.190000 3.450000 0.308284 0.990000 0.990000 1.000000 1.000000 0.999976 0.990000 1 0.990000 1.000000 RIMBP2 23504 broad.mit.edu 37 12 130921729 130921729 + Silent SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr12:130921729G>A ENST00000261655.4 - 10 1876 c.1713C>T c.(1711-1713)ggC>ggT p.G571G RIMBP2_ENST00000536002.1_Silent_p.G479G|RIMBP2_ENST00000535703.1_Silent_p.G479G NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) CCACGGACTCGCCCTGGGCGG 0.662000 0 SO:0001819 synonymous_variant ENST00000261655.4 1 1 hg19 CCDS31925.1 TCGA-F2-A7TX-01A-33D-A38G-08 RIMBP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000399520.1 1 0 1 15 33 0 17 0 1.066667e-01 0 2 0 17 2 0 0 0 0 0 2 1 0.999956 15 33 0 17 2 0 0 0 0 17 2 -20.000000 1 1 0 0 1 2 3 5 2.051061 0 0.190000 3.450000 0.308284 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 C T C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr12:25398284C>T ENST00000256078.4 - 2 98 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 1 1 hg19 CCDS8703.1 . . . . . . . . . . C 23.4 4.409094 0.83340 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78595 -1.19;-1.19;-1.19;-1.19 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85919 0.5809 M 0.91818 3.245 0.80722 D 1 B;P 0.35714 0.385;0.517 B;B 0.41619 0.257;0.361 D 0.87870 0.2670 10 0.87932 D 0 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN D 12 ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D ENSP00000256078:G12D G - 2 0 KRAS 25289551 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-F2-A7TX-01A-33D-A38G-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 51 273 0 122 1 9.833576e-01 10 27 0 122 2 1 1 72 332 0 248 2 1 1.000000 51 269 0 120 2 1 1 1877 6137 0 122 2 -20.000000 1 1 121404 2 44 1 2 2 4 2.048859 0 0.190000 3.450000 0.308284 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 ANO6 196527 broad.mit.edu 37 12 45815050 45815050 + Missense_Mutation SNP C C A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr12:45815050C>A ENST00000320560.8 + 18 2616 c.2414C>A c.(2413-2415)aCa>aAa p.T805K ANO6_ENST00000425752.2_Missense_Mutation_p.T805K|ANO6_ENST00000435642.1_Missense_Mutation_p.T805K|ANO6_ENST00000441606.2_Missense_Mutation_p.T787K|ANO6_ENST00000423947.3_Missense_Mutation_p.T826K NM_001025356.2 NP_001020527.2 Q4KMQ2 ANO6_HUMAN anoctamin 6 46 AACCATACCACATGCAGGCAA 0.373000 0 SO:0001583 missense ENST00000320560.8 0 1 hg19 CCDS31782.1 . . . . . . . . . . C 16.01 3.001985 0.54254 . . ENSG00000177119 ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606 T;T;T;T;T 0.71461 -0.57;-0.44;-0.57;-0.44;-0.44 5.05 3.2 0.36748 . 0.224065 0.44902 D 0.000417 T 0.71567 0.3355 M 0.74881 2.28 0.40730 D 0.982733 P;P;P;B 0.42248 0.573;0.774;0.551;0.317 P;P;B;B 0.45794 0.493;0.493;0.325;0.118 T 0.70274 -0.4917 9 . . . . 8.7333 0.34512 0.0:0.7605:0.0:0.2395 . 787;826;805;805 E9PB30;B9EGG0;E9PCT2;Q4KMQ2 .;.;.;ANO6_HUMAN K 805;826;805;805;787 ENSP00000391417:T805K;ENSP00000409126:T826K;ENSP00000413840:T805K;ENSP00000320087:T805K;ENSP00000413137:T787K . T + 2 0 ANO6 44101317 0.950000 0.32346 0.006000 0.13384 0.422000 0.31414 2.368000 0.44222 0.767000 0.33267 0.650000 0.86243 ACA TCGA-F2-A7TX-01A-33D-A38G-08 ANO6-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000404822.1 0 0 0 4 153 0 68 0 6.402992e-01 0 77 0 68 2 0 0 0 0 0 2 1 0.885229 4 149 0 68 2 0 0 0 0 68 2 -6.458672 1 1 0 0 1 2 2 4 2.048859 0 0.190000 3.450000 0.308284 0.370000 0.120000 1.000000 0.300000 0.431856 0.370000 0 0.220000 0.630000 PSMA6 5687 broad.mit.edu 37 14 35761738 35761738 + Missense_Mutation SNP A A G TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 A G A A Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr14:35761738A>G ENST00000261479.4 + 1 176 c.56A>G c.(55-57)gAg>gGg p.E19G PSMA6_ENST00000556506.1_Missense_Mutation_p.E19G|AL121594.1_ENST00000578587.1_RNA|PSMA6_ENST00000555764.1_5'UTR|KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000540871.1_Intron|PSMA6_ENST00000553809.1_Missense_Mutation_p.E19G NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) TTTTCACCCGAGGGTCGGCTC 0.582000 0 SO:0001583 missense ENST00000261479.4 0 1 hg19 CCDS9655.1 . . . . . . . . . . A 34 5.412570 0.96072 . . ENSG00000100902 ENST00000261479;ENST00000553809;ENST00000556506 T;T;T 0.51325 0.71;0.71;0.71 5.87 5.87 0.94306 Proteasome, alpha-subunit, conserved site (3); 0.000000 0.85682 D 0.000000 T 0.75421 0.3847 H 0.95574 3.69 0.80722 D 1 D 0.57257 0.979 P 0.60541 0.876 T 0.83320 -0.0018 10 0.87932 D 0 -31.8945 14.4865 0.67622 1.0:0.0:0.0:0.0 . 19 P60900 PSA6_HUMAN G 19 ENSP00000261479:E19G;ENSP00000452603:E19G;ENSP00000450528:E19G ENSP00000261479:E19G E + 2 0 PSMA6 34831489 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 7.288000 0.78691 2.242000 0.73789 0.482000 0.46254 GAG TCGA-F2-A7TX-01A-33D-A38G-08 PSMA6-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000276684.1 0 0 0 6 462 0 168 0 9.986657e-01 1 1079 0 168 2 0 0 0 0 0 2 1 0.962534 6 451 0 167 2 0 0 0 0 168 2 -5.678617 1 1 0 0 1 2 2 4 2.072114 0 0.190000 3.450000 0.314953 0.170000 0.060000 1.000000 0.160000 0.207997 0.170000 0 0.110000 0.260000 SSTR1 6751 broad.mit.edu 37 14 38678945 38678945 + Silent SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr14:38678945C>T ENST00000267377.2 + 3 968 c.351C>T c.(349-351)tcC>tcT p.S117S NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) Octreotide(DB00104)|Pasireotide(DB06663) TAGTCACCTCCACGTTGTTGC 0.577000 0 SO:0001819 synonymous_variant ENST00000267377.2 1 1 hg19 CCDS9666.1 TCGA-F2-A7TX-01A-33D-A38G-08 SSTR1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000409930.2 1 0 0 50 664 0 253 0 2.788252e-02 0 4 0 253 2 0 0 0 0 0 2 1 1.000000 49 649 0 252 2 0 0 0 0 253 2 -9.822766 1 1 0 0 1 2 2 4 2.072114 0 0.190000 3.450000 0.314953 0.870000 0.650000 1.000000 1.000000 0.875729 0.870000 1 0.760000 1.000000 LTBP2 4053 broad.mit.edu 37 14 74968210 74968210 + Missense_Mutation SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr14:74968210G>A ENST00000261978.4 - 35 5640 c.5254C>T c.(5254-5256)Cgg>Tgg p.R1752W LTBP2_ENST00000556690.1_Missense_Mutation_p.R1708W NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 58 TAGCCCTCCCGCACGCGCACA 0.622000 OREG0022805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000261978.4 1 1 hg19 CCDS9831.1 . . . . . . . . . . G 19.23 3.786592 0.70337 . . ENSG00000119681 ENST00000261978;ENST00000556690 D;D 0.92699 -3.09;-3.09 5.25 2.23 0.28157 EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1); 0.470600 0.16123 N 0.228535 D 0.92143 0.7509 L 0.29908 0.895 0.09310 N 1 D 0.89917 1.0 D 0.68192 0.956 D 0.84993 0.0895 10 0.66056 D 0.02 . 11.6308 0.51173 0.0:0.1212:0.6393:0.2395 . 1752 Q14767 LTBP2_HUMAN W 1752;1708 ENSP00000261978:R1752W;ENSP00000451477:R1708W ENSP00000261978:R1752W R - 1 2 LTBP2 74037963 0.860000 0.29831 0.786000 0.31890 0.986000 0.74619 1.961000 0.40432 0.740000 0.32651 -0.188000 0.12872 CGG TCGA-F2-A7TX-01A-33D-A38G-08 LTBP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000413595.1 1 0 1 68 382 0 187 1 1 33 212 0 187 2 0 0 0 0 0 2 1 1.000000 69 371 0 183 2 0 0 0 0 187 2 -3.320658 1 1 121412 3 40 1 2 2 4 2.072114 0 0.190000 3.450000 0.314953 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 DLL4 54567 broad.mit.edu 37 15 41226899 41226899 + Missense_Mutation SNP A A T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr15:41226899A>T ENST00000249749.5 + 7 1280 c.1004A>T c.(1003-1005)aAt>aTt p.N335I NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) CCCTGTCGCAATGGAGGCAGC 0.592000 0 SO:0001583 missense ENST00000249749.5 1 1 hg19 CCDS45232.1 . . . . . . . . . . A 27.4 4.830554 0.91036 . . ENSG00000128917 ENST00000249749 D 0.95069 -3.6 5.97 5.97 0.96955 EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1); 0.000000 0.85682 D 0.000000 D 0.98444 0.9482 H 0.98178 4.165 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.99751 1.1018 10 0.87932 D 0 . 16.4504 0.83984 1.0:0.0:0.0:0.0 . 335 Q9NR61 DLL4_HUMAN I 335 ENSP00000249749:N335I ENSP00000249749:N335I N + 2 0 DLL4 39014191 1.000000 0.71417 0.998000 0.56505 0.968000 0.65278 8.962000 0.93254 2.288000 0.76882 0.533000 0.62120 AAT TCGA-F2-A7TX-01A-33D-A38G-08 DLL4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000418859.1 1 0 0 10 168 0 55 0 2.344568e-01 0 15 0 55 2 0 0 0 0 0 2 1 0.996966 10 166 0 54 2 0 0 0 0 55 2 -13.715050 1 1 0 0 1 2 3 5 2.260305 1 0.190000 3.450000 0.369650 0.780000 0.400000 1.000000 1.000000 0.783398 0.780000 0 0.570000 1.000000 UNC13C 440279 broad.mit.edu 37 15 54306714 54306714 + Missense_Mutation SNP G G C TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr15:54306714G>C ENST00000260323.11 + 1 1614 c.1614G>C c.(1612-1614)caG>caC p.Q538H UNC13C_ENST00000537900.1_Missense_Mutation_p.Q538H|UNC13C_ENST00000545554.1_Missense_Mutation_p.Q538H NM_001080534.1 NP_001074003.1 Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 121 GGCACTCACAGAGTGATTTTT 0.368000 0 SO:0001583 missense ENST00000260323.11 1 1 hg19 CCDS45264.1 . . . . . . . . . . G 13.54 2.267447 0.40095 . . ENSG00000137766 ENST00000260323;ENST00000545554;ENST00000537900 D;D;D 0.83506 -1.73;-1.73;-1.73 5.01 4.02 0.46733 . . . . . D 0.83510 0.5270 L 0.27053 0.805 0.39140 D 0.962024 D 0.67145 0.996 D 0.75484 0.986 D 0.84308 0.0509 9 0.87932 D 0 . 9.0517 0.36380 0.1739:0.0:0.8261:0.0 . 538 Q8NB66 UN13C_HUMAN H 538 ENSP00000260323:Q538H;ENSP00000438156:Q538H;ENSP00000442569:Q538H ENSP00000260323:Q538H Q + 3 2 UNC13C 52094006 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 2.057000 0.41365 2.608000 0.88229 0.655000 0.94253 CAG TCGA-F2-A7TX-01A-33D-A38G-08 UNC13C-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000419028.3 1 0 0 26 212 0 100 0 0 0 0 100 2 0 0 0 0 0 2 1 1.000000 25 208 0 99 2 0 0 0 0 100 2 -2.774778 1 1 0 0 1 2 3 5 2.260305 1 0.190000 3.450000 0.369650 0.990000 0.990000 1.000000 1.000000 0.998418 0.990000 1 0.990000 1.000000 RFX7 64864 broad.mit.edu 37 15 56535410 56535410 + Missense_Mutation SNP T T C TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr15:56535410T>C ENST00000423270.1 - 1 73 c.74A>G c.(73-75)aAc>aGc p.N25S RFX7_ENST00000559447.2_5'UTR|RFX7_ENST00000422057.1_5'UTR|RFX7_ENST00000317318.6_Missense_Mutation_p.N25S NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 19 CACCCCCGAGTTGGGGGCGCT 0.652000 0 SO:0001583 missense ENST00000423270.1 0 1 hg19 . . . . . . . . . . T 10.81 1.456433 0.26161 . . ENSG00000181827 ENST00000317318;ENST00000423270 T;T 0.50001 0.76;0.76 3.0 0.546 0.17196 . . . . . T 0.30727 0.0774 . . . 0.25825 N 0.984237 . . . . . . T 0.23511 -1.0186 6 0.31617 T 0.26 . 1.6971 0.02864 0.2693:0.2644:0.0:0.4663 . . . . S 25 ENSP00000313299:N25S;ENSP00000397644:N25S ENSP00000313299:N25S N - 2 0 RFX7 54322702 0.761000 0.28439 0.997000 0.53966 0.994000 0.84299 0.111000 0.15458 0.339000 0.23719 0.377000 0.23210 AAC TCGA-F2-A7TX-01A-33D-A38G-08 RFX7-203 KNOWN basic|appris_principal protein_coding protein_coding 1 0 0 8 61 0 21 1 3.183734e-01 2 7 0 21 2 0 0 0 0 0 2 1 0.988259 7 58 0 21 2 0 0 0 0 21 2 -14.981830 1 1 0 0 1 2 3 5 2.260305 1 0.190000 3.450000 0.369650 0.990000 0.790000 1.000000 1.000000 0.987205 0.990000 1 0.990000 1.000000 XYLT1 64131 broad.mit.edu 37 16 17228362 17228362 + Silent SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr16:17228362C>T ENST00000261381.6 - 9 2079 c.1995G>A c.(1993-1995)acG>acA p.T665T CTD-2576D5.4_ENST00000567344.1_RNA NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I p.T665T(1) 67 TGTGCAGGGACGTCTCGGCCC 0.607000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000261381.6 1 1 hg19 CCDS10569.1 TCGA-F2-A7TX-01A-33D-A38G-08 XYLT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252241.2 1 0 1 66 229 0 121 1 9.170887e-01 3 14 0 121 2 0 0 0 0 0 2 1 1.000000 67 222 0 118 2 0 0 0 0 121 2 -20.000000 1 1 121412 3 34 1 1 3 4 2.103136 1 0.190000 3.450000 0.319328 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 CMIP 80790 broad.mit.edu 37 16 81479102 81479102 + Missense_Mutation SNP C C G TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 C G C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr16:81479102C>G ENST00000537098.3 + 1 328 c.256C>G c.(256-258)Ccg>Gcg p.P86A NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 13 GCGCTGGGAGCCGCACCACCT 0.667000 0 SO:0001583 missense ENST00000537098.3 0 1 hg19 CCDS54044.1 . . . . . . . . . . C 15.14 2.744161 0.49151 . . ENSG00000153815 ENST00000537098 T 0.29142 1.58 2.97 2.97 0.34412 Pleckstrin homology-type (1);Pleckstrin homology domain (1); 0.000000 0.36303 U 0.002668 T 0.16938 0.0407 N 0.08118 0 0.80722 D 1 B 0.14438 0.01 B 0.06405 0.002 T 0.05225 -1.0898 10 0.42905 T 0.14 . 14.1926 0.65649 0.0:1.0:0.0:0.0 . 86 Q8IY22 CMIP_HUMAN A 86 ENSP00000446100:P86A ENSP00000446100:P86A P + 1 0 CMIP 80036603 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 6.464000 0.73534 1.329000 0.45376 0.313000 0.20887 CCG TCGA-F2-A7TX-01A-33D-A38G-08 CMIP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000432399.2 1 0 0 8 19 0 10 1 9.999886e-01 62 21 0 10 2 0 0 0 0 0 2 1 0.991947 8 18 0 10 2 0 0 0 0 10 2 -18.926090 1 1 0 0 1 0 3 3 1.937805 1 0.190000 3.450000 0.260274 0.990000 0.990000 1.000000 1.000000 0.999789 0.990000 1 0.990000 1.000000 GRN 2896 broad.mit.edu 37 17 42428464 42428464 + Silent SNP C C A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 C A C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr17:42428464C>A ENST00000053867.3 + 8 830 c.768C>A c.(766-768)atC>atA p.I256I GRN_ENST00000589265.1_Intron|GRN_ENST00000589923.1_3'UTR NM_002087.2 NP_002078.1 P28799 GRN_HUMAN granulin 23 Prostate(33;0.0181) GTGACCTGATCCAGAGTAAGT 0.607000 OREG0024459 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001819 synonymous_variant ENST00000053867.3 0 1 hg19 CCDS11483.1 TCGA-F2-A7TX-01A-33D-A38G-08 GRN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457766.1 0 0 0 6 319 0 100 0 9.994823e-01 0 911 0 100 2 0 0 0 0 0 2 1 0.961458 6 308 0 99 2 0 0 0 0 100 2 -6.380860 1 1 0 0 1 1 2 3 1.957126 0 0.190000 3.450000 0.260274 0.220000 0.090000 0.430000 0.210000 0.244585 0.220000 0 0.140000 0.330000 MAPT 4137 broad.mit.edu 37 17 44060673 44060673 + Missense_Mutation SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr17:44060673G>A ENST00000571987.1 + 5 503 c.503G>A c.(502-504)cGc>cAc p.R168H MAPT_ENST00000431008.3_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.R168H|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.R168H|MAPT_ENST00000415613.2_Missense_Mutation_p.R168H P10636 TAU_HUMAN microtubule-associated protein tau 38 Melanoma(429;0.216) Docetaxel(DB01248)|Paclitaxel(DB01229) GAGGCCACACGCCAACCTTCG 0.697000 0 SO:0001583 missense ENST00000571987.1 1 1 hg19 CCDS11501.1 . . . . . . . . . . G 9.502 1.103437 0.20632 . . ENSG00000186868 ENST00000344290;ENST00000262410;ENST00000415613 T;T;T 0.10099 2.91;2.91;2.91 4.03 -7.22 0.01485 . 2.448770 0.01389 N 0.013192 T 0.02380 0.0073 N 0.00538 -1.39 0.09310 N 1 B;B 0.09022 0.002;0.0 B;B 0.04013 0.001;0.0 T 0.39354 -0.9618 10 0.31617 T 0.26 4.9526 2.1491 0.03795 0.3493:0.1391:0.3754:0.1362 . 168;168 P10636-9;P10636 .;TAU_HUMAN H 168 ENSP00000340820:R168H;ENSP00000262410:R168H;ENSP00000410838:R168H ENSP00000262410:R168H R + 2 0 MAPT 41416510 0.000000 0.05858 0.000000 0.03702 0.316000 0.28119 -1.116000 0.03286 -1.431000 0.01982 -0.459000 0.05422 CGC TCGA-F2-A7TX-01A-33D-A38G-08 MAPT-008 NOVEL basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000440133.1 1 0 1 13 49 0 15 0 0 0 0 15 2 0 0 0 0 0 2 1 0.999731 13 49 0 15 2 0 0 0 0 15 2 -19.999990 1 1 0 0 1 1 2 3 1.957126 0 0.190000 3.450000 0.260274 0.990000 0.990000 1.000000 1.000000 0.999868 0.990000 1 0.990000 1.000000 HOXB3 3213 broad.mit.edu 37 17 46627995 46627995 + Missense_Mutation SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr17:46627995C>T ENST00000470495.1 - 2 2444 c.997G>A c.(997-999)Gtc>Atc p.V333I HOXB3_ENST00000490677.1_Missense_Mutation_p.V199I|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.V333I|HOXB3_ENST00000460160.1_Missense_Mutation_p.V201I|HOXB3_ENST00000311626.4_Missense_Mutation_p.V333I|HOXB3_ENST00000485909.2_Missense_Mutation_p.V201I|HOXB3_ENST00000476342.1_Missense_Mutation_p.V333I|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.V260I|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.V260I P14651 HXB3_HUMAN homeobox B3 30 GCTTGGAGGACGTGCGGCTCA 0.721000 OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000470495.1 1 1 hg19 CCDS11528.1 . . . . . . . . . . C 10.43 1.348351 0.24426 . . ENSG00000120093 ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342 D;D;D;D;D;D;D;D;D 0.90844 -2.66;-2.63;-2.66;-2.66;-2.74;-2.74;-2.74;-2.63;-2.66 3.8 2.83 0.33086 . 0.243879 0.32671 N 0.005796 D 0.83815 0.5336 L 0.38175 1.15 0.80722 D 1 B 0.12013 0.005 B 0.04013 0.001 T 0.77653 -0.2507 10 0.37606 T 0.19 . 9.3477 0.38118 0.0:0.8227:0.0:0.1773 . 333 P14651 HXB3_HUMAN I 333;260;333;333;199;201;201;260;333 ENSP00000417207:V333I;ENSP00000419676:V260I;ENSP00000308252:V333I;ENSP00000420595:V333I;ENSP00000449977:V199I;ENSP00000418035:V201I;ENSP00000438747:V201I;ENSP00000418729:V260I;ENSP00000418892:V333I ENSP00000308252:V333I V - 1 0 HOXB3 43982994 0.002000 0.14202 1.000000 0.80357 0.921000 0.55340 -0.007000 0.12810 0.950000 0.37743 -0.448000 0.05591 GTC TCGA-F2-A7TX-01A-33D-A38G-08 HOXB3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358261.1 1 0 0 21 229 0 60 1 9.317986e-01 8 44 0 60 2 0 0 0 0 0 2 1 0.999997 21 220 0 59 2 0 0 0 0 60 2 -20.000000 1 1 0 0 1 1 2 3 1.957126 0 0.190000 3.450000 0.260274 0.970000 0.620000 1.000000 1.000000 0.916743 0.970000 1 0.780000 1.000000 TP53 7157 broad.mit.edu 37 17 7578260 7578260 + Missense_Mutation SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr17:7578260C>T ENST00000269305.4 - 6 778 c.589G>A c.(589-591)Gtg>Atg p.V197M TP53_ENST00000445888.2_Missense_Mutation_p.V197M|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.V197M|TP53_ENST00000420246.2_Missense_Mutation_p.V197M|TP53_ENST00000359597.4_Missense_Mutation_p.V197M|TP53_ENST00000413465.2_Missense_Mutation_p.V197M NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 p.V197M(10)|p.0?(8)|p.V197L(6)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.V104L(1)|p.V65L(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.P59_E66>Q(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) TTTCCTTCCACTCGGATAAGA 0.552000 111 Mis, N, F breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) Pancreas(47;798 1329 9957 10801) yes Rec yes Li-Fraumeni syndrome 17 17p13 7157 tumor protein p53 L, E, M, O 42 Substitution - Missense(18)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Complex - deletion inframe(5)|Complex - frameshift(1) GRCh37 CM070297 TP53 M SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 1 1 hg19 CCDS11118.1 . . . . . . . . . . C 14.78 2.638630 0.47153 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315 D;D;D;D;D;D;D;D 0.99837 -7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06 5.41 4.44 0.53790 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.059878 0.64402 D 0.000004 D 0.99743 0.9898 M 0.77820 2.39 0.52099 D 0.999948 D;D;D;D;D;D;D 0.89917 1.0;0.992;0.999;1.0;0.988;1.0;1.0 D;D;D;D;D;D;D 0.97110 0.999;0.972;0.996;1.0;0.97;0.999;1.0 D 0.97268 0.9909 10 0.66056 D 0.02 -16.054 12.3714 0.55256 0.0:0.9175:0.0:0.0824 . 158;197;197;104;197;197;197 B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7 .;.;.;.;P53_HUMAN;.;. M 197;197;197;197;197;197;186;104;65;104;65 ENSP00000410739:V197M;ENSP00000352610:V197M;ENSP00000269305:V197M;ENSP00000398846:V197M;ENSP00000391127:V197M;ENSP00000391478:V197M;ENSP00000425104:V65M;ENSP00000423862:V104M ENSP00000269305:V197M V - 1 0 TP53 7518985 0.994000 0.37717 0.999000 0.59377 0.021000 0.10359 3.252000 0.51461 1.420000 0.47138 0.655000 0.94253 GTG TCGA-F2-A7TX-01A-33D-A38G-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 32 144 0 75 1 9.999606e-01 40 35 0 75 2 1 1 189 866 0 885 2 1 1.000000 32 139 0 74 2 0 0 0 0 75 2 -20.000000 1 1 0 0 1 0 2 2 1.793387 1 0.190000 3.450000 0.190000 0.990000 0.990000 1.000000 1.000000 0.999985 0.990000 1 0.990000 1.000000 NWD1 284434 broad.mit.edu 37 19 16860012 16860012 + Missense_Mutation SNP G G A rs142661674 TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr19:16860012G>A ENST00000552788.1 + 4 559 c.559G>A c.(559-561)Gtc>Atc p.V187I NWD1_ENST00000379808.3_Missense_Mutation_p.V187I|NWD1_ENST00000524140.2_Missense_Mutation_p.V187I|NWD1_ENST00000339803.6_Missense_Mutation_p.V52I|NWD1_ENST00000523826.1_5'UTR|NWD1_ENST00000549814.1_Missense_Mutation_p.V187I Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 67 GGGAGCCACCGTCTTCCTTAG 0.582000 0 SO:0001583 missense ENST00000552788.1 0 1 hg19 . . . . . . . . . . N 0.072 -1.200132 0.01581 2.27E-4 0.0 ENSG00000188039 ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000552788;ENST00000339803 T;T;T;T;T 0.56941 1.77;1.77;1.77;1.77;0.43 4.45 -1.62 0.08372 . 0.464471 0.20800 N 0.085444 T 0.32406 0.0828 L 0.42686 1.345 0.22066 N 0.999385 B;B 0.18013 0.025;0.006 B;B 0.12837 0.008;0.003 T 0.34378 -0.9831 10 0.05351 T 0.99 -15.3841 7.6641 0.28421 0.4955:0.0:0.5045:0.0 . 187;52 Q149M9-3;C9J2Y8 .;. I 52;187;187;187;187;52 ENSP00000428579:V187I;ENSP00000447548:V187I;ENSP00000369136:V187I;ENSP00000447224:V187I;ENSP00000340159:V52I ENSP00000340159:V52I V + 1 0 NWD1 16721012 0.001000 0.12720 0.004000 0.12327 0.013000 0.08279 -0.267000 0.08619 0.027000 0.15297 -0.497000 0.04613 GTC TCGA-F2-A7TX-01A-33D-A38G-08 NWD1-005 NOVEL basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000403569.1 0 0 0 5 233 0 85 0 0 0 0 85 2 0 0 0 0 0 2 1 0.933925 5 227 0 85 2 0 0 0 0 85 2 -6.089308 1 1 121412 4 41 1 0 2 2 1.796486 1 0.190000 3.450000 0.190000 0.230000 0.080000 0.480000 0.220000 0.258449 0.230000 0 0.150000 0.360000 MYO9B 4650 broad.mit.edu 37 19 17313080 17313080 + Missense_Mutation SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr19:17313080G>A ENST00000594824.1 + 28 4951 c.4804G>A c.(4804-4806)Ggc>Agc p.G1602S MYO9B_ENST00000397274.2_Missense_Mutation_p.G1602S|MYO9B_ENST00000595618.1_Missense_Mutation_p.G1602S Q13459 MYO9B_HUMAN myosin IXB 39 GTTCACCCGTGGCTACACCAA 0.597000 0 SO:0001583 missense ENST00000594824.1 0 1 hg19 . . . . . . . . . . G 10.06 1.246218 0.22796 . . ENSG00000099331 ENST00000397274 D 0.84070 -1.8 4.51 2.29 0.28610 . 0.243175 0.28859 N 0.013909 T 0.69342 0.3100 L 0.35854 1.095 0.39346 D 0.965669 B;B;B;B 0.29341 0.131;0.242;0.131;0.156 B;B;B;B 0.28784 0.031;0.094;0.031;0.043 T 0.56986 -0.7888 10 0.08837 T 0.75 . 7.8424 0.29406 0.0931:0.1643:0.7426:0.0 . 1602;1602;1602;1608 Q13459;Q13459-2;B0I1T6;Q4LE74 MYO9B_HUMAN;.;.;. S 1602 ENSP00000380444:G1602S ENSP00000380444:G1602S G + 1 0 MYO9B 17174080 0.896000 0.30565 0.042000 0.18584 0.868000 0.49771 1.890000 0.39728 0.290000 0.22444 0.313000 0.20887 GGC TCGA-F2-A7TX-01A-33D-A38G-08 MYO9B-002 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000463236.1 0 0 1 10 45 0 18 1 9.999092e-01 29 64 0 18 2 0 0 0 0 0 2 1 0.997023 10 42 0 18 2 0 0 0 0 18 2 -19.572200 1 1 0 0 1 0 2 2 1.796486 1 0.190000 3.450000 0.190000 0.990000 0.930000 1.000000 1.000000 0.995399 0.990000 1 0.990000 1.000000 RYR1 6261 broad.mit.edu 37 19 38976774 38976774 + Missense_Mutation SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr19:38976774C>T ENST00000359596.3 + 34 5479 c.5479C>T c.(5479-5481)Cgc>Tgc p.R1827C RYR1_ENST00000360985.3_Missense_Mutation_p.R1827C|RYR1_ENST00000355481.4_Missense_Mutation_p.R1827C P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786) GCAGCACGCTCGCGACCCCGT 0.692000 0 SO:0001583 missense ENST00000359596.3 1 1 hg19 CCDS33011.1 . . . . . . . . . . C 12.30 1.897596 0.33535 . . ENSG00000196218 ENST00000359596;ENST00000355481;ENST00000360985 T;T;T 0.75821 -0.97;-0.97;-0.97 3.7 1.45 0.22620 . 0.000000 0.56097 U 0.000022 D 0.83257 0.5215 M 0.84082 2.675 0.45390 D 0.998377 D;D 0.89917 1.0;1.0 D;D 0.85130 0.997;0.995 T 0.80471 -0.1368 10 0.87932 D 0 . 5.8485 0.18679 0.4699:0.4345:0.0:0.0956 . 1827;1827 P21817-2;P21817 .;RYR1_HUMAN C 1827 ENSP00000352608:R1827C;ENSP00000347667:R1827C;ENSP00000354254:R1827C ENSP00000347667:R1827C R + 1 0 RYR1 43668614 0.042000 0.20092 0.218000 0.23776 0.839000 0.47603 0.423000 0.21313 0.215000 0.20761 -0.237000 0.12165 CGC TCGA-F2-A7TX-01A-33D-A38G-08 RYR1-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000462137.1 1 0 1 107 392 0 172 0 0 0 0 172 2 0 0 0 0 0 2 1 1.000000 107 385 0 170 2 0 0 0 0 172 2 -20.000000 1 1 0 0 1 3 3 6 2.237334 1 0.190000 3.450000 0.364008 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 CCDC8 83987 broad.mit.edu 37 19 46915715 46915715 + Missense_Mutation SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr19:46915715C>T ENST00000307522.3 - 1 1126 c.353G>A c.(352-354)cGc>cAc p.R118H NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 23 CGGGCCCTGGCGGCTCTTGTC 0.637000 0 SO:0001583 missense ENST00000307522.3 1 1 hg19 CCDS12685.1 . . . . . . . . . . C 11.28 1.592819 0.28357 . . ENSG00000169515 ENST00000307522;ENST00000540252 T 0.13420 2.59 3.78 -7.56 0.01322 . 2.515660 0.01447 N 0.015325 T 0.06188 0.0160 N 0.11560 0.145 0.09310 N 1 B 0.09022 0.002 B 0.04013 0.001 T 0.28713 -1.0035 10 0.13108 T 0.6 . 8.1402 0.31078 0.0:0.1367:0.4249:0.4384 . 118 Q9H0W5 CCDC8_HUMAN H 118 ENSP00000303158:R118H ENSP00000303158:R118H R - 2 0 CCDC8 51607555 0.000000 0.05858 0.000000 0.03702 0.146000 0.21551 -3.843000 0.00352 -1.722000 0.01377 -0.345000 0.07892 CGC TCGA-F2-A7TX-01A-33D-A38G-08 CCDC8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000368598.1 1 0 1 74 461 0 157 0 9.445916e-01 0 32 0 157 2 0 0 0 0 0 2 1 1.000000 73 446 0 154 2 0 0 0 0 157 2 -20.000000 1 1 0 0 1 3 4 7 2.326965 1 0.190000 3.450000 0.389945 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 ZNF154 7710 broad.mit.edu 37 19 58216263 58216263 + Missense_Mutation SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr19:58216263G>A ENST00000512439.2 - 2 314 c.118C>T c.(118-120)Cgt>Tgt p.R40C ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.R40C|AC003006.7_ENST00000594684.1_Intron Q13106 ZN154_HUMAN zinc finger protein 154 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) ATCACATCACGGTACAGGCAT 0.507000 0 SO:0001583 missense ENST00000512439.2 1 1 hg19 CCDS42639.1 . . . . . . . . . . G 11.48 1.650024 0.29336 2.27E-4 2.33E-4 ENSG00000179909 ENST00000512439;ENST00000426889 T;T 0.02812 4.15;4.15 2.78 1.73 0.24493 Krueppel-associated box (4); . . . . T 0.04227 0.0117 M 0.67569 2.06 0.18873 N 0.999987 B 0.14438 0.01 B 0.11329 0.006 T 0.32079 -0.9920 9 0.52906 T 0.07 . 5.3394 0.15974 0.1627:0.0:0.8373:0.0 . 40 Q13106 ZN154_HUMAN C 40 ENSP00000421258:R40C;ENSP00000442370:R40C ENSP00000442370:R40C R - 1 0 ZNF154 62908075 0.000000 0.05858 0.360000 0.25837 0.915000 0.54546 -0.647000 0.05397 0.741000 0.32674 0.313000 0.20887 CGT TCGA-F2-A7TX-01A-33D-A38G-08 ZNF154-002 KNOWN NMD_exception|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000277102.2 1 0 0 28 551 0 199 0 2.310342e-02 0 5 0 199 2 0 0 0 0 0 2 1 1.000000 28 542 0 197 2 0 0 0 0 199 2 -2.386563 0 1 121412 3 42 1 2 3 5 2.310303 1 0.190000 3.450000 0.369650 0.650000 0.440000 0.910000 0.650000 0.672686 0.650000 0 0.540000 0.790000 ACTL9 284382 broad.mit.edu 37 19 8808381 8808381 + Missense_Mutation SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr19:8808381G>A ENST00000324436.3 - 1 791 c.671C>T c.(670-672)gCg>gTg p.A224V NM_178525.3 NP_848620.3 Q8TC94 ACTL9_HUMAN actin-like 9 36 GTGGTTGCCCGCCAGGTCCAG 0.662000 0 SO:0001583 missense ENST00000324436.3 0 1 hg19 CCDS12207.1 . . . . . . . . . . G 19.46 3.832211 0.71258 . . ENSG00000181786 ENST00000324436 T 0.14640 2.49 4.55 1.18 0.20946 . 0.301968 0.23206 N 0.050737 T 0.23965 0.0580 H 0.97491 4.015 0.38031 D 0.935152 P 0.51351 0.944 B 0.37091 0.241 T 0.37753 -0.9692 10 0.87932 D 0 . 6.2393 0.20780 0.1648:0.0:0.686:0.1493 . 224 Q8TC94 ACTL9_HUMAN V 224 ENSP00000316674:A224V ENSP00000316674:A224V A - 2 0 ACTL9 8669381 1.000000 0.71417 0.222000 0.23844 0.723000 0.41478 5.869000 0.69613 0.251000 0.21505 0.462000 0.41574 GCG TCGA-F2-A7TX-01A-33D-A38G-08 ACTL9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459953.1 0 0 0 4 223 1 98 0 0 0 1 98 2 0 0 0 0 0 2 0 0.079875 4 219 1 95 10 0 0 0 1 98 2 -5.067402 1 0 0 0 1 0 2 2 1.796486 1 0.190000 3.450000 0.190000 0.200000 0.060000 0.440000 0.180000 0.225519 0.200000 0 0.120000 0.320000 FBXO44 93611 broad.mit.edu 37 1 11716084 11716084 + Silent SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr1:11716084C>T ENST00000251547.5 + 2 274 c.192C>T c.(190-192)ccC>ccT p.P64P FBXO2_ENST00000354287.4_5'Flank|FBXO44_ENST00000251546.4_Silent_p.P64P|FBXO44_ENST00000376768.1_Silent_p.P64P|FBXO44_ENST00000376760.1_Silent_p.P64P|FBXO44_ENST00000376762.4_Silent_p.P64P|FBXO44_ENST00000376770.1_Silent_p.P64P|FBXO2_ENST00000475961.1_5'Flank NM_033182.5 NP_149438.2 Q9H4M3 FBX44_HUMAN F-box protein 44 8 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) GGGACCAGCCCGTGGCCGACT 0.627000 0 SO:0001819 synonymous_variant ENST00000251547.5 1 1 hg19 CCDS132.1 TCGA-F2-A7TX-01A-33D-A38G-08 FBXO44-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000005761.1 1 0 1 52 300 0 137 1 8.708504e-01 3 20 0 137 2 0 0 0 0 0 2 1 1.000000 49 294 0 136 2 0 0 0 0 137 2 -2.543487 1 1 121412 1 30 1 1 3 4 1.995362 0 0.190000 3.450000 0.280256 0.990000 0.990000 1.000000 1.000000 0.999999 0.990000 1 0.990000 1.000000 KIFAP3 22920 broad.mit.edu 37 1 169985603 169985603 + Splice_Site SNP C C A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr1:169985603C>A ENST00000361580.2 - 10 1410 c.1183G>T c.(1183-1185)Ggc>Tgc p.G395C KIFAP3_ENST00000367767.1_Splice_Site_p.G351C|KIFAP3_ENST00000540905.1_Splice_Site_p.G97C|KIFAP3_ENST00000538366.1_Splice_Site_p.G317C|KIFAP3_ENST00000367765.1_Splice_Site_p.G355C NM_014970.3 NP_055785.2 Q92845 KIFA3_HUMAN kinesin-associated protein 3 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AAAAGCATACCTAGGAGTGCA 0.413000 0 SO:0001630 splice_region_variant ENST00000361580.2 0 1 hg19 CCDS1288.1 . . . . . . . . . . C 21.8 4.200786 0.79015 . . ENSG00000075945 ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366 T;T;T;T;T 0.46451 0.87;0.87;0.87;0.87;0.87 5.83 5.83 0.93111 Armadillo-like helical (1);Armadillo-type fold (1); 0.146179 0.64402 D 0.000010 T 0.29061 0.0722 L 0.43152 1.355 0.80722 D 1 P 0.37061 0.58 B 0.38683 0.279 T 0.03493 -1.1031 9 . . . -14.7883 19.7221 0.96147 0.0:1.0:0.0:0.0 . 395 Q92845 KIFA3_HUMAN C 395;355;351;97;317 ENSP00000354560:G395C;ENSP00000356739:G355C;ENSP00000356741:G351C;ENSP00000442712:G97C;ENSP00000444622:G317C . G - 1 0 KIFAP3 168252227 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 5.357000 0.66058 2.758000 0.94735 0.563000 0.77884 GGC TCGA-F2-A7TX-01A-33D-A38G-08 KIFAP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087568.1 0 0 0 4 267 0 99 0 1.974041e-01 0 44 0 99 2 0 0 0 0 0 2 1 0.888434 4 264 0 99 2 0 0 0 0 99 2 -3.253723 1 1 0 0 1 1 2 3 1.935404 0 0.190000 3.450000 0.257051 0.190000 0.060000 1.000000 0.170000 0.238024 0.190000 0 0.110000 0.310000 DDX59 83479 broad.mit.edu 37 1 200613582 200613582 + Missense_Mutation SNP T T C TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr1:200613582T>C ENST00000331314.6 - 8 1873 c.1660A>G c.(1660-1662)Aaa>Gaa p.K554E DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron NM_001031725.4 NP_001026895.2 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 21 AAGAGTCTTTTTGAATTATTA 0.363000 0 SO:0001583 missense ENST00000331314.6 1 1 hg19 CCDS30964.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 19.77|19.77 3.888564|3.888564 0.72524|0.72524 .|. .|. ENSG00000118197|ENSG00000118197 ENST00000367346;ENST00000331314;ENST00000433235|ENST00000429498 D;T|. 0.90676|. -2.71;3.6|. 5.5|5.5 5.5|5.5 0.81552|0.81552 Helicase, C-terminal (1);|. 0.050113|0.050113 0.85682|0.85682 D|D 0.000000|0.000000 T|T 0.50871|0.50871 0.1641|0.1641 L|L 0.28014|0.28014 0.82|0.82 0.80722|0.80722 D|D 1|1 P|. 0.51791|. 0.948|. P|. 0.48815|. 0.591|. T|T 0.48127|0.48127 -0.9062|-0.9062 10|6 0.07813|. T|. 0.8|. -28.0703|-28.0703 11.583|11.583 0.50902|0.50902 0.0:0.0:0.1489:0.851|0.0:0.0:0.1489:0.851 .|. 554|. Q5T1V6|. DDX59_HUMAN|. E|R 140;554;197|131 ENSP00000330460:K554E;ENSP00000409954:K197E|. ENSP00000330460:K554E|. K|K -|- 1|2 0|0 DDX59|DDX59 198880205|198880205 1.000000|1.000000 0.71417|0.71417 0.921000|0.921000 0.36526|0.36526 0.998000|0.998000 0.95712|0.95712 5.995000|5.995000 0.70631|0.70631 2.073000|2.073000 0.62155|0.62155 0.523000|0.523000 0.50628|0.50628 AAA|AAA TCGA-F2-A7TX-01A-33D-A38G-08 DDX59-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086883.2 1 0 0 32 371 0 163 1 5.143882e-01 5 16 0 163 2 0 0 0 0 0 2 1 1.000000 31 370 0 160 2 0 0 0 0 163 2 -20.000000 1 1 0 0 1 1 2 3 1.935404 0 0.190000 3.450000 0.257051 0.920000 0.640000 1.000000 1.000000 0.898708 0.920000 1 0.770000 1.000000 CYB5R1 51706 broad.mit.edu 37 1 202935980 202935980 + Missense_Mutation SNP A A T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr1:202935980A>T ENST00000367249.4 - 2 136 c.62T>A c.(61-63)cTc>cAc p.L21H CYB5R1_ENST00000497655.1_5'Flank NM_016243.2 NP_057327.2 Q9UHQ9 NB5R1_HUMAN cytochrome b5 reductase 1 12 BRCA - Breast invasive adenocarcinoma(75;0.141) Flavin adenine dinucleotide(DB03147) AGCCAGGCCGAGCAGAGTGAC 0.657000 0 SO:0001583 missense ENST00000367249.4 1 1 hg19 CCDS1431.1 . . . . . . . . . . A 23.5 4.423509 0.83559 . . ENSG00000159348 ENST00000367249 D 0.87966 -2.32 5.48 5.48 0.80851 . 0.513564 0.20313 N 0.094786 T 0.77922 0.4203 N 0.08118 0 0.45318 D 0.998319 D 0.59767 0.986 P 0.46718 0.525 T 0.76929 -0.2777 10 0.22109 T 0.4 . 13.506 0.61483 1.0:0.0:0.0:0.0 . 21 Q9UHQ9 NB5R1_HUMAN H 21 ENSP00000356218:L21H ENSP00000356218:L21H L - 2 0 CYB5R1 201202603 0.110000 0.22057 0.991000 0.47740 0.991000 0.79684 3.864000 0.56024 2.081000 0.62600 0.533000 0.62120 CTC TCGA-F2-A7TX-01A-33D-A38G-08 CYB5R1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000099155.1 1 0 0 8 95 0 45 1 9.533489e-01 6 61 0 45 2 0 0 0 0 0 2 1 0.989496 8 93 0 45 2 0 0 0 0 45 2 -13.298910 1 1 0 0 1 1 2 3 1.935404 0 0.190000 3.450000 0.257051 0.930000 0.440000 1.000000 1.000000 0.860707 0.930000 1 0.650000 1.000000 KLHDC8A 55220 broad.mit.edu 37 1 205312564 205312564 + Missense_Mutation SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr1:205312564C>T ENST00000367156.3 - 5 985 c.169G>A c.(169-171)Gac>Aac p.D57N KLHDC8A_ENST00000367155.3_Missense_Mutation_p.D57N|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.D57N|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000606529.1_5'Flank NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) GTCCACTGGTCGGCCTCCGGG 0.701000 0 SO:0001583 missense ENST00000367156.3 1 1 hg19 CCDS30985.1 . . . . . . . . . . C 16.15 3.041237 0.55003 . . ENSG00000162873 ENST00000367155;ENST00000367156;ENST00000539253 T;T;T 0.73789 -0.78;-0.78;-0.78 5.55 5.55 0.83447 Kelch-type beta propeller (1); 0.048810 0.85682 D 0.000000 T 0.53367 0.1792 N 0.25144 0.715 0.45690 D 0.998606 B 0.25809 0.135 B 0.18561 0.022 T 0.51148 -0.8742 10 0.02654 T 1 -33.1818 9.7742 0.40609 0.0:0.8459:0.0:0.1541 . 57 Q8IYD2 KLD8A_HUMAN N 57 ENSP00000356123:D57N;ENSP00000356124:D57N;ENSP00000442229:D57N ENSP00000356123:D57N D - 1 0 KLHDC8A 203579187 1.000000 0.71417 1.000000 0.80357 0.963000 0.63663 2.678000 0.46900 2.590000 0.87494 0.655000 0.94253 GAC TCGA-F2-A7TX-01A-33D-A38G-08 KLHDC8A-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090397.1 0 0 0 24 269 1 127 0 2.097822e-02 0 3 1 127 2 0 0 0 0 0 2 1 0.995288 24 261 1 126 10 0 0 0 1 127 2 -8.480209 1 1 0 0 1 1 2 3 1.935404 0 0.190000 3.450000 0.257051 0.950000 0.630000 1.000000 1.000000 0.909468 0.950000 1 0.770000 1.000000 AIDA 64853 broad.mit.edu 37 1 222885606 222885606 + Missense_Mutation SNP T T G TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr1:222885606T>G ENST00000340020.6 - 1 260 c.54A>C c.(52-54)agA>agC p.R18S BROX_ENST00000539697.1_5'Flank|AIDA_ENST00000541237.1_Intron|BROX_ENST00000340934.5_5'Flank|AIDA_ENST00000355727.2_Missense_Mutation_p.R18S|BROX_ENST00000537020.1_5'Flank|AIDA_ENST00000474863.1_5'UTR NM_022831.2 NP_073742.2 Q96BJ3 AIDA_HUMAN axin interactor, dorsalization associated 10 AGTCGGCGCCTCTCCTAAAAC 0.672000 0 SO:0001583 missense ENST00000340020.6 0 1 hg19 CCDS1533.1 . . . . . . . . . . T 17.50 3.404232 0.62288 . . ENSG00000186063 ENST00000340020;ENST00000355727 . . . 5.51 -0.695 0.11291 Axin interactor, dorsalization-associated protein, N-terminal (2); 0.043570 0.85682 D 0.000000 T 0.40222 0.1108 N 0.22421 0.69 0.80722 D 1 B 0.09022 0.002 B 0.20577 0.03 T 0.26849 -1.0091 9 0.72032 D 0.01 . 10.6482 0.45632 0.0:0.4119:0.0:0.5881 . 18 Q96BJ3 AIDA_HUMAN S 18 . ENSP00000339161:R18S R - 3 2 AIDA 220952229 0.998000 0.40836 0.998000 0.56505 0.988000 0.76386 0.355000 0.20163 0.071000 0.16664 -0.432000 0.05891 AGA TCGA-F2-A7TX-01A-33D-A38G-08 AIDA-001 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000091818.1 0 0 0 4 44 0 21 0 1.176471e-02 1 1 0 21 2 0 0 0 0 0 2 1 0.877436 4 41 0 29 2 0 0 0 0 21 2 -4.885313 1 1 0 0 1 1 2 3 1.938198 0 0.190000 3.450000 0.260274 0.990000 0.360000 1.000000 1.000000 0.864705 0.990000 1 0.630000 1.000000 ARID1A 8289 broad.mit.edu 37 1 27099479 27099479 + Splice_Site SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr1:27099479G>A ENST00000324856.7 + 14 4086 c.e14+1 ARID1A_ENST00000374152.2_Splice_Site|ARID1A_ENST00000540690.1_Splice_Site|ARID1A_ENST00000457599.2_Splice_Site NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) ARID1A/MAST2_ENST00000361297(2) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) ATGAGGAAAGGTGACTGATCT 0.488000 Mis, N, F, S, D clear cell ovarian carcinoma, RCC Rec yes 1 1p35.3 8289 AT rich interactive domain 1A (SWI-like) E 0 SO:0001630 splice_region_variant ENST00000324856.7 1 1 hg19 CCDS285.1 . . . . . . . . . . G 18.42 3.619732 0.66787 . . ENSG00000117713 ENST00000324856;ENST00000457599;ENST00000374152;ENST00000430799 . . . 5.34 5.34 0.76211 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 19.2435 0.93893 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . ARID1A 26972066 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 9.263000 0.95617 2.791000 0.96007 0.655000 0.94253 . TCGA-F2-A7TX-01A-33D-A38G-08 ARID1A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000011437.2 1 0 1 26 155 0 80 0 0 1 0 0 80 2 1 1 47 220 0 176 2 1 1.000000 26 153 0 80 2 0 0 0 0 80 2 -20.000000 1 1 0 0 1 1 2 3 1.959096 0 0.190000 3.450000 0.260274 0.990000 0.990000 1.000000 1.000000 0.999647 0.990000 1 0.990000 1.000000 ARID1A 8289 broad.mit.edu 37 1 27099947 27099947 + Nonsense_Mutation SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr1:27099947C>T ENST00000324856.7 + 15 4197 c.3826C>T c.(3826-3828)Cga>Tga p.R1276* ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R893*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1276* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) p.R1276*(7)|p.G1274fs*7(2)|p.M1273fs(1) ARID1A/MAST2_ENST00000361297(2) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) GATGGGACCACGACAGCACTA 0.602000 Mis, N, F, S, D clear cell ovarian carcinoma, RCC Rec yes 1 1p35.3 8289 AT rich interactive domain 1A (SWI-like) E 10 Substitution - Nonsense(7)|Deletion - Frameshift(2)|Complex(1) SO:0001587 stop_gained ENST00000324856.7 0 1 hg19 CCDS285.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 41|41 8.564494|8.564494 0.98866|0.98866 .|. .|. ENSG00000117713|ENSG00000117713 ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799 .|. .|. .|. 4.72|4.72 3.74|3.74 0.42951|0.42951 .|. 0.000000|. 0.85682|. D|. 0.000000|. .|T .|0.68650 .|0.3024 .|. .|. .|. 0.80722|0.80722 D|D 1|1 .|. .|. .|. .|. .|. .|. .|T .|0.66893 .|-0.5808 .|4 0.02654|. T|. 1|. -1.2857|-1.2857 14.0159|14.0159 0.64523|0.64523 0.227:0.773:0.0:0.0|0.227:0.773:0.0:0.0 .|. .|. .|. .|. X|M 1276;1276;893|172 .|. ENSP00000320485:R1276X|. R|T +|+ 1|2 2|0 ARID1A|ARID1A 26972534|26972534 0.992000|0.992000 0.36948|0.36948 1.000000|1.000000 0.80357|0.80357 0.999000|0.999000 0.98932|0.98932 1.516000|1.516000 0.35856|0.35856 2.627000|2.627000 0.88993|0.88993 0.655000|0.655000 0.94253|0.94253 CGA|ACG TCGA-F2-A7TX-01A-33D-A38G-08 ARID1A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000011437.2 1 0 1 11 108 0 55 1 9.205517e-01 6 40 0 55 2 1 9.999999e-01 63 792 1 627 7 1 0.998212 11 103 0 55 2 0 0 0 0 55 2 -17.125700 1 1 0 0 1 1 2 3 1.959096 0 0.190000 3.450000 0.260274 0.990000 0.580000 1.000000 1.000000 0.932034 0.990000 1 0.800000 1.000000 MANEAL 149175 broad.mit.edu 37 1 38260133 38260133 + Silent SNP C C A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr1:38260133C>A ENST00000373045.6 + 1 660 c.279C>A c.(277-279)ccC>ccA p.P93P MANEAL_ENST00000525897.1_5'Flank|MANEAL_ENST00000329006.5_5'Flank|MANEAL_ENST00000397631.3_Silent_p.P93P NM_001113482.1 NP_001106954.1 Q5VSG8 MANEL_HUMAN mannosidase, endo-alpha-like 7 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AGGCCGAGCCCGCCCCCGTGC 0.791000 0 SO:0001819 synonymous_variant ENST00000373045.6 0 1 hg19 CCDS44110.1 TCGA-F2-A7TX-01A-33D-A38G-08 MANEAL-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000012469.2 0 0 0 3 27 0 8 0 1.770969e-01 0 6 0 8 2 0 0 0 0 0 2 1 0.801814 3 26 0 8 2 0 0 0 0 8 2 -9.557345 1 1 0 0 1 1 2 3 1.959096 0 0.190000 3.450000 0.260274 0.990000 0.370000 1.000000 1.000000 0.901922 0.990000 1 0.710000 1.000000 TIE1 7075 broad.mit.edu 37 1 43778910 43778910 + Missense_Mutation SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr1:43778910G>A ENST00000372476.3 + 13 2111 c.2032G>A c.(2032-2034)Gtt>Att p.V678I TIE1_ENST00000433781.2_Missense_Mutation_p.V323I NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ATCCAAGTACGTTGTGGAGGT 0.632000 0 SO:0001583 missense ENST00000372476.3 1 1 hg19 CCDS482.1 . . . . . . . . . . G 0.048 -1.258294 0.01445 . . ENSG00000066056 ENST00000372476;ENST00000372475;ENST00000433781 T;T 0.57107 0.42;0.42 5.08 1.24 0.21308 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.179360 0.26563 N 0.023668 T 0.18215 0.0437 N 0.00642 -1.3 0.19775 N 0.999952 B;B;B;B;B 0.02656 0.0;0.0;0.0;0.0;0.0 B;B;B;B;B 0.01281 0.0;0.0;0.0;0.0;0.0 T 0.27536 -1.0071 10 0.13853 T 0.58 . 11.398 0.49854 0.8638:0.0:0.1362:0.0 . 323;633;678;323;678 E9PG63;B4DTW8;B5A952;B4DKW0;P35590 .;.;.;.;TIE1_HUMAN I 678;81;323 ENSP00000361554:V678I;ENSP00000411728:V323I ENSP00000361553:V81I V + 1 0 TIE1 43551497 1.000000 0.71417 0.908000 0.35775 0.331000 0.28603 2.067000 0.41461 -0.002000 0.14469 -2.033000 0.00422 GTT TCGA-F2-A7TX-01A-33D-A38G-08 TIE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000019011.1 1 0 0 19 214 0 110 0 7.021878e-01 0 29 0 110 2 0 0 0 0 0 2 1 0.999991 18 210 0 108 2 0 0 0 0 110 2 -19.999980 1 1 0 0 1 1 2 3 1.959096 0 0.190000 3.450000 0.260274 0.940000 0.590000 1.000000 1.000000 0.900490 0.940000 1 0.750000 1.000000 SGIP1 84251 broad.mit.edu 37 1 67137671 67137671 + Missense_Mutation SNP C C A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr1:67137671C>A ENST00000371037.4 + 11 630 c.553C>A c.(553-555)Ctt>Att p.L185I SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371036.3_Missense_Mutation_p.L152I|SGIP1_ENST00000237247.6_Missense_Mutation_p.L189I|SGIP1_ENST00000371035.3_Missense_Mutation_p.L142I|SGIP1_ENST00000371039.1_Missense_Mutation_p.L153I|AL139147.1_ENST00000502413.2_Intron NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 71 AACTCCAGAACTTATAAGGTG 0.403000 0 SO:0001583 missense ENST00000371037.4 1 1 hg19 CCDS30744.1 . . . . . . . . . . C 12.29 1.893702 0.33442 . . ENSG00000118473 ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037 T;T;T;T;T;T 0.17370 2.28;3.98;3.98;2.28;3.98;2.28 5.53 5.53 0.82687 . 0.251717 0.41001 D 0.000975 T 0.08223 0.0205 L 0.36672 1.1 0.28969 N 0.889373 B 0.06786 0.001 B 0.06405 0.002 T 0.06972 -1.0797 10 0.37606 T 0.19 -17.8373 19.4593 0.94910 0.0:1.0:0.0:0.0 . 185 Q9BQI5 SGIP1_HUMAN I 189;153;177;142;188;188;152;185 ENSP00000237247:L189I;ENSP00000360078:L153I;ENSP00000410439:L177I;ENSP00000360074:L142I;ENSP00000360075:L152I;ENSP00000360076:L185I ENSP00000237247:L189I L + 1 0 SGIP1 66910259 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 5.925000 0.70062 2.601000 0.87937 0.563000 0.77884 CTT TCGA-F2-A7TX-01A-33D-A38G-08 SGIP1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000025395.4 1 0 0 15 173 0 91 0 3.955721e-02 0 4 0 91 2 0 0 0 0 0 2 1 0.999863 15 167 0 91 2 0 0 0 0 91 2 -19.842020 1 1 0 0 1 1 2 3 1.959096 0 0.190000 3.450000 0.260274 0.930000 0.550000 1.000000 1.000000 0.884406 0.930000 1 0.720000 1.000000 TAF4 6874 broad.mit.edu 37 20 60585136 60585136 + Missense_Mutation SNP A A G TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr20:60585136A>G ENST00000252996.4 - 4 1726 c.1727T>C c.(1726-1728)gTa>gCa p.V576A TAF4_ENST00000609045.1_5'UTR NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) CGCCCCTGGTACCGTGCGCTG 0.617000 0 SO:0001583 missense ENST00000252996.4 1 1 hg19 CCDS33500.1 . . . . . . . . . . A 8.390 0.839537 0.16891 . . ENSG00000130699 ENST00000252996;ENST00000436129 T;T 0.23348 1.92;1.91 4.8 3.65 0.41850 . 0.449437 0.23513 N 0.047377 T 0.15782 0.0380 L 0.44542 1.39 0.43471 D 0.995686 P 0.34699 0.464 B 0.28709 0.093 T 0.03739 -1.1008 10 0.02654 T 1 -10.3553 10.7964 0.46464 0.8585:0.0:0.0:0.1414 . 576 O00268 TAF4_HUMAN A 576;440 ENSP00000252996:V576A;ENSP00000399091:V440A ENSP00000252996:V576A V - 2 0 TAF4 60018531 1.000000 0.71417 0.628000 0.29241 0.112000 0.19704 6.400000 0.73252 1.805000 0.52779 0.260000 0.18958 GTA TCGA-F2-A7TX-01A-33D-A38G-08 TAF4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079968.2 1 0 0 13 141 0 56 1 6.682631e-01 6 20 0 56 2 0 0 0 0 0 2 1 0.999574 12 140 0 54 2 0 0 0 0 56 2 -18.778180 1 1 0 0 1 1 2 3 1.923650 0 0.190000 3.450000 0.260274 0.980000 0.560000 1.000000 1.000000 0.905490 0.980000 1 0.750000 1.000000 MYO7B 4648 broad.mit.edu 37 2 128354060 128354060 + Silent SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr2:128354060G>A ENST00000409816.2 + 18 2300 c.2268G>A c.(2266-2268)gaG>gaA p.E756E MYO7B_ENST00000428314.1_Silent_p.E756E|MYO7B_ENST00000389524.4_Silent_p.E756E Q6PIF6 MYO7B_HUMAN myosin VIIB 75 Colorectal(110;0.1) CTCTGCTGGAGGTACAGAGAA 0.637000 0 SO:0001819 synonymous_variant ENST00000409816.2 0 1 hg19 CCDS46405.1 TCGA-F2-A7TX-01A-33D-A38G-08 MYO7B-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000331124.3 0 0 0 4 80 0 50 0 4.009623e-03 1 1 0 50 2 0 0 0 0 0 2 1 0.877059 4 75 0 50 2 0 0 0 0 50 2 -7.555060 1 1 0 0 1 1 2 3 1.927264 0 0.190000 3.450000 0.260274 0.600000 0.200000 1.000000 1.000000 0.626412 0.600000 0 0.370000 0.910000 STK16 8576 broad.mit.edu 37 2 220113194 220113194 + Silent SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr2:220113194G>A ENST00000409638.3 + 8 1003 c.831G>A c.(829-831)ccG>ccA p.P277P STK16_ENST00000409260.1_Silent_p.P322P|STK16_ENST00000396738.2_Silent_p.P277P|STK16_ENST00000409516.3_Silent_p.P159P|GLB1L_ENST00000295759.7_5'Flank|STK16_ENST00000409743.1_Silent_p.P245P|GLB1L_ENST00000392089.2_5'Flank|TUBA4A_ENST00000498660.1_5'Flank NM_001008910.2 NP_001008910.1 O75716 STK16_HUMAN serine/threonine kinase 16 1 Renal(207;0.0474) CCGTGGACCCGCATCAGCGTC 0.567000 Pancreas(34;887 922 17165 36961 39622) 0 SO:0001819 synonymous_variant ENST00000409638.3 0 1 hg19 CCDS42822.1 TCGA-F2-A7TX-01A-33D-A38G-08 STK16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335679.1 0 0 0 5 433 0 154 0 4.805670e-01 0 124 0 154 2 0 0 0 0 0 2 1 0.934819 5 425 0 154 2 0 0 0 0 154 2 -1.934586 0 1 0 0 1 1 2 3 1.948827 0 0.190000 3.450000 0.260274 0.140000 0.040000 0.290000 0.130000 0.156156 0.140000 0 0.080000 0.220000 KCNK3 3777 broad.mit.edu 37 2 26950912 26950912 + Missense_Mutation SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr2:26950912G>A ENST00000302909.3 + 2 786 c.661G>A c.(661-663)Gtg>Atg p.V221M NM_002246.2 NP_002237.1 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Doxapram(DB00561)|Halothane(DB01159) GCCGCAGTACGTGGCCTTCAG 0.617000 GBM(80;1457 1631 27100 45946) 0 SO:0001583 missense ENST00000302909.3 1 1 hg19 CCDS1727.1 . . . . . . . . . . G 22.0 4.236658 0.79800 . . ENSG00000171303 ENST00000538762;ENST00000302909 T 0.28895 1.59 4.72 4.72 0.59763 Ion transport 2 (1); 0.206931 0.40818 N 0.001017 T 0.52092 0.1713 L 0.59967 1.855 0.58432 D 0.999999 D 0.89917 1.0 D 0.91635 0.999 T 0.55471 -0.8136 10 0.87932 D 0 . 15.5289 0.75936 0.0:0.0:1.0:0.0 . 221 O14649 KCNK3_HUMAN M 98;221 ENSP00000306275:V221M ENSP00000306275:V221M V + 1 0 KCNK3 26804416 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 9.638000 0.98445 2.303000 0.77524 0.556000 0.70494 GTG TCGA-F2-A7TX-01A-33D-A38G-08 KCNK3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000246861.2 1 0 1 17 113 0 47 0 8.640744e-01 0 26 0 47 2 0 0 0 0 0 2 1 0.999973 16 112 0 46 2 0 0 0 0 47 2 -20.000000 1 1 0 0 1 1 2 3 1.927760 0 0.190000 3.450000 0.258988 0.990000 0.930000 1.000000 1.000000 0.995873 0.990000 1 0.990000 1.000000 PLEKHH2 130271 broad.mit.edu 37 2 43958705 43958705 + Silent SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr2:43958705C>T ENST00000282406.4 + 19 3017 c.2907C>T c.(2905-2907)tcC>tcT p.S969S NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTCTACCTTCCGAAGCCCTGC 0.328000 0 SO:0001819 synonymous_variant ENST00000282406.4 1 1 hg19 CCDS1812.1 TCGA-F2-A7TX-01A-33D-A38G-08 PLEKHH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250537.1 1 0 0 27 305 0 146 0 6.015676e-02 1 4 0 146 2 0 0 0 0 0 2 1 1.000000 27 295 0 145 2 0 0 0 0 146 2 -2.402338 0 1 121412 1 35 1 1 2 3 1.927760 0 0.190000 3.450000 0.258988 0.940000 0.640000 1.000000 1.000000 0.907093 0.940000 1 0.780000 1.000000 NUDT6 11162 broad.mit.edu 37 4 123843664 123843664 + Missense_Mutation SNP G G T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr4:123843664G>T ENST00000304430.5 - 1 97 c.64C>A c.(64-66)Cct>Act p.P22T SPATA5_ENST00000274008.4_5'Flank|NUDT6_ENST00000339154.2_Intron NM_007083.4 NP_009014.2 P53370 NUDT6_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 6 6 CCCGCCGAAGGCCCGGGGCCG 0.682000 0 SO:0001583 missense ENST00000304430.5 1 1 hg19 CCDS43268.1 . . . . . . . . . . G 11.61 1.689167 0.29962 . . ENSG00000170917 ENST00000304430 T 0.21543 2.0 3.97 0.0578 0.14325 . 1.142310 0.06669 N 0.765837 T 0.09598 0.0236 N 0.08118 0 0.09310 N 0.999995 B 0.11235 0.004 B 0.09377 0.004 T 0.36212 -0.9757 10 0.23891 T 0.37 -1.8931 4.3631 0.11211 0.3094:0.1653:0.5254:0.0 . 22 P53370 NUDT6_HUMAN T 22 ENSP00000306070:P22T ENSP00000306070:P22T P - 1 0 NUDT6 124063114 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.055000 0.11807 -0.141000 0.11374 -0.467000 0.05162 CCT TCGA-F2-A7TX-01A-33D-A38G-08 NUDT6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000095331.3 0 0 1 13 89 1 30 0 9.354611e-02 0 4 1 30 2 0 0 0 0 0 2 1 0.604563 12 85 1 29 12 0 0 0 1 30 2 -19.993370 1 1 0 0 1 1 2 3 1.960368 0 0.190000 3.450000 0.260274 0.990000 0.850000 1.000000 1.000000 0.991082 0.990000 1 0.990000 1.000000 TXK 7294 broad.mit.edu 37 4 48114421 48114421 + Missense_Mutation SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr4:48114421G>A ENST00000264316.4 - 4 368 c.283C>T c.(283-285)Ccc>Tcc p.P95S TXK_ENST00000510457.1_5'UTR|RNU6-868P_ENST00000517241.1_RNA NM_003328.2 NP_003319.2 P42681 TXK_HUMAN TXK tyrosine kinase 25 GGTTCTCTGGGCAGAAAATCA 0.502000 0 SO:0001583 missense ENST00000264316.4 1 1 hg19 CCDS3480.1 . . . . . . . . . . G 19.37 3.813681 0.70912 . . ENSG00000074966 ENST00000264316;ENST00000506073 T;T 0.48201 0.82;0.82 5.12 5.12 0.69794 Src homology-3 domain (4); 0.083055 0.47852 D 0.000215 T 0.59101 0.2169 L 0.55743 1.74 0.80722 D 1 P;P 0.52692 0.955;0.952 P;P 0.60541 0.876;0.685 T 0.52917 -0.8511 10 0.31617 T 0.26 . 13.9414 0.64057 0.0:0.0:1.0:0.0 . 95;95 E7EQN8;P42681 .;TXK_HUMAN S 95 ENSP00000264316:P95S;ENSP00000422798:P95S ENSP00000264316:P95S P - 1 0 TXK 47809178 1.000000 0.71417 1.000000 0.80357 0.734000 0.41952 2.572000 0.45999 2.681000 0.91329 0.563000 0.77884 CCC TCGA-F2-A7TX-01A-33D-A38G-08 TXK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000219869.7 1 0 1 81 448 0 225 0 0 0 1 0 225 2 0 0 0 0 0 2 1 1.000000 81 443 0 224 2 0 0 0 0 225 2 -20.000000 1 1 0 0 1 1 2 3 1.960368 0 0.190000 3.450000 0.260274 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 DNAH5 1767 broad.mit.edu 37 5 13811871 13811871 + Missense_Mutation SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr5:13811871G>A ENST00000265104.4 - 44 7396 c.7292C>T c.(7291-7293)tCt>tTt p.S2431F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 378 Lung NSC(4;0.00476) GTCTGGGAAAGACTCGGTGTA 0.428000 Kartagener syndrome 0 SO:0001583 missense Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome ENST00000265104.4 1 1 hg19 CCDS3882.1 . . . . . . . . . . G 4.470 0.087128 0.08583 . . ENSG00000039139 ENST00000265104 T 0.22945 1.93 5.78 4.9 0.64082 . 0.168536 0.53938 D 0.000044 T 0.30885 0.0779 M 0.74647 2.275 0.58432 D 0.999996 B 0.06786 0.001 B 0.11329 0.006 T 0.12604 -1.0541 10 0.16896 T 0.51 . 16.0245 0.80532 0.0:0.0:0.8645:0.1355 . 2431 Q8TE73 DYH5_HUMAN F 2431 ENSP00000265104:S2431F ENSP00000265104:S2431F S - 2 0 DNAH5 13864871 1.000000 0.71417 0.799000 0.32177 0.128000 0.20619 7.880000 0.87243 1.403000 0.46800 0.650000 0.86243 TCT TCGA-F2-A7TX-01A-33D-A38G-08 DNAH5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207057.2 1 0 0 34 342 0 154 0 0 0 1 0 154 2 0 0 0 0 0 2 1 1.000000 33 340 0 153 2 0 0 0 0 154 2 -20.000000 1 1 0 0 1 2 2 4 2.072376 0 0.190000 3.450000 0.314953 0.990000 0.800000 1.000000 1.000000 0.980079 0.990000 1 0.960000 1.000000 PCDHGA2 56113 broad.mit.edu 37 5 140720414 140720414 + Missense_Mutation SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr5:140720414G>A ENST00000394576.2 + 1 1876 c.1876G>A c.(1876-1878)Gtg>Atg p.V626M PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 p.V626L(2) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGGCGAGGTGCGCACGGC 0.687000 2 Substitution - Missense(2) SO:0001583 missense ENST00000394576.2 1 1 hg19 CCDS47289.1 . . . . . . . . . . . 12.96 2.094710 0.36952 . . ENSG00000081853 ENST00000394576 T 0.55930 0.49 5.14 2.93 0.34026 Cadherin (4);Cadherin-like (1); 0.553780 0.13797 U 0.362080 T 0.64724 0.2624 M 0.65677 2.01 0.25520 N 0.987372 D;D 0.76494 0.99;0.999 D;D 0.72338 0.923;0.977 T 0.52578 -0.8557 10 0.87932 D 0 . 4.7999 0.13292 0.2293:0.1939:0.5767:0.0 . 626;626 Q9Y5H1-2;Q9Y5H1 .;PCDG2_HUMAN M 626 ENSP00000378077:V626M ENSP00000378077:V626M V + 1 0 PCDHGA2 140700598 1.000000 0.71417 0.998000 0.56505 0.098000 0.18820 2.136000 0.42121 1.315000 0.45114 0.485000 0.47835 GTG TCGA-F2-A7TX-01A-33D-A38G-08 PCDHGA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374738.1 1 0 0 83 385 0 202 0 0 0 0 202 2 0 0 0 0 0 2 1 1.000000 65 314 0 223 2 0 0 0 0 202 2 -20.000000 1 1 0 0 1 2 2 4 2.072376 0 0.190000 3.450000 0.314953 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 SLC1A3 6507 broad.mit.edu 37 5 36608640 36608640 + Missense_Mutation SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr5:36608640G>A ENST00000265113.4 + 2 591 c.115G>A c.(115-117)Gag>Aag p.E39K SLC1A3_ENST00000506725.1_3'UTR|SLC1A3_ENST00000381918.3_Missense_Mutation_p.E39K NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CATTACAAAGGAGGATGTTAA 0.453000 0 SO:0001583 missense ENST00000265113.4 1 1 hg19 CCDS3919.1 . . . . . . . . . . G 17.97 3.517899 0.64634 . . ENSG00000079215 ENST00000265113;ENST00000513903;ENST00000427100;ENST00000416645;ENST00000505202;ENST00000513646;ENST00000381918 T;T;T;T;T 0.55588 0.51;1.91;1.91;1.91;0.51 5.69 5.69 0.88448 . 0.244001 0.42548 D 0.000695 T 0.35711 0.0941 N 0.08118 0 0.39293 D 0.964762 B;B 0.12013 0.002;0.005 B;B 0.11329 0.003;0.006 T 0.19745 -1.0296 10 0.18710 T 0.47 -22.2818 19.812 0.96551 0.0:0.0:1.0:0.0 . 39;39 Q4JCQ8;P43003 .;EAA1_HUMAN K 39 ENSP00000265113:E39K;ENSP00000427203:E39K;ENSP00000424986:E39K;ENSP00000420992:E39K;ENSP00000371343:E39K ENSP00000265113:E39K E + 1 0 SLC1A3 36644397 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 5.777000 0.68931 2.685000 0.91497 0.655000 0.94253 GAG TCGA-F2-A7TX-01A-33D-A38G-08 SLC1A3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207579.2 1 0 1 123 686 0 317 1 9.640867e-01 6 26 0 317 2 0 0 0 0 0 2 1 1.000000 120 670 0 317 2 0 0 0 0 317 2 -20.000000 1 1 0 0 1 2 2 4 2.072376 0 0.190000 3.450000 0.314953 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 ZNF366 167465 broad.mit.edu 37 5 71739855 71739855 + Missense_Mutation SNP C C T rs112462947 byFrequency TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr5:71739855C>T ENST00000318442.5 - 5 2453 c.1963G>A c.(1963-1965)Gcc>Acc p.A655T RP11-389C8.2_ENST00000564956.1_RNA NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) ACCTCGGGGGCGTGCTCCGAC 0.642000 0 SO:0001583 missense ENST00000318442.5 0 1 hg19 CCDS4015.1 . . . . . . . . . . C 12.46 1.943458 0.34283 6.81E-4 0.0 ENSG00000178175 ENST00000318442 T 0.08546 3.08 5.87 4.08 0.47627 . 1.645490 0.02889 N 0.133862 T 0.04679 0.0127 N 0.03608 -0.345 0.09310 N 1 B 0.11235 0.004 B 0.04013 0.001 T 0.38329 -0.9666 10 0.15499 T 0.54 -1.5779 7.1067 0.25368 0.0:0.6577:0.1261:0.2163 . 655 Q8N895 ZN366_HUMAN T 655 ENSP00000313158:A655T ENSP00000313158:A655T A - 1 0 ZNF366 71775611 0.000000 0.05858 0.002000 0.10522 0.006000 0.05464 0.255000 0.18333 0.919000 0.36945 0.655000 0.94253 GCC TCGA-F2-A7TX-01A-33D-A38G-08 ZNF366-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000218574.3 0 0 0 11 661 0 239 0 3.408704e-04 0 2 0 239 2 0 0 0 0 0 2 1 0.997980 10 638 0 236 2 0 0 0 0 239 2 -2.814858 1 1 121412 20 49 1 2 2 4 2.072376 0 0.190000 3.450000 0.314953 0.210000 0.100000 1.000000 0.200000 0.243308 0.210000 0 0.150000 0.290000 SYNE1 23345 broad.mit.edu 37 6 152527344 152527344 + Missense_Mutation SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr6:152527344G>A ENST00000367255.5 - 126 23579 c.22978C>T c.(22978-22980)Cgg>Tgg p.R7660W SYNE1_ENST00000341594.5_Missense_Mutation_p.R7272W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7660W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7589W|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2184W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7589W NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) TCTTCCAGCCGCATGCTGGCT 0.478000 HNSCC(10;0.0054) 0 SO:0001583 missense ENST00000367255.5 0 1 hg19 CCDS5236.2 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 11.46 1.645098 0.29246 . . ENSG00000131018 ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251 T;T;T;T;T;T;T;T 0.36157 1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27 5.51 -2.62 0.06152 . 0.910031 0.09366 N 0.811992 T 0.25232 0.0613 L 0.57536 1.79 0.09310 N 1 D;D;D;D 0.67145 0.994;0.994;0.996;0.994 P;P;P;P 0.55824 0.487;0.487;0.785;0.614 T 0.10337 -1.0634 10 0.59425 D 0.04 . 4.8395 0.13483 0.3197:0.0:0.3036:0.3767 . 7660;7660;7589;7589 Q8NF91;E7EQI5;Q8NF91-4;E9PEL9 SYNE1_HUMAN;.;.;. W 7660;306;7589;7660;7589;7272;2184;582 ENSP00000356224:R7660W;ENSP00000356226:R306W;ENSP00000396024:R7589W;ENSP00000265368:R7660W;ENSP00000390975:R7589W;ENSP00000341887:R7272W;ENSP00000349276:R2184W;ENSP00000356220:R582W ENSP00000265368:R7660W R - 1 2 SYNE1 152569037 0.000000 0.05858 0.000000 0.03702 0.125000 0.20455 0.089000 0.15002 -0.469000 0.06911 -0.293000 0.09583 CGG TCGA-F2-A7TX-01A-33D-A38G-08 SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000334755.2 0 0 0 6 334 0 137 0 7.268970e-02 0 21 0 137 2 0 0 0 0 0 2 1 0.963693 6 329 0 136 2 0 0 0 0 137 2 -2.642126 1 1 121410 9 40 1 0 3 3 1.924341 1 0.190000 3.450000 0.260274 0.210000 0.080000 0.420000 0.210000 0.233948 0.210000 0 0.140000 0.320000 UBR2 23304 broad.mit.edu 37 6 42620364 42620364 + Missense_Mutation SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr6:42620364C>T ENST00000372899.1 + 25 3008 c.2750C>T c.(2749-2751)tCa>tTa p.S917L UBR2_ENST00000372901.1_Missense_Mutation_p.S917L|UBR2_ENST00000372883.3_Missense_Mutation_p.S421L NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TATGCCTGGTCAGAGTCCATG 0.373000 0 SO:0001583 missense ENST00000372899.1 1 1 hg19 CCDS4870.1 . . . . . . . . . . C 26.6 4.751128 0.89753 . . ENSG00000024048 ENST00000372899;ENST00000372901;ENST00000372883 T;T;T 0.58797 0.31;0.31;0.31 5.52 5.52 0.82312 . 0.061971 0.64402 D 0.000002 T 0.66886 0.2835 M 0.73962 2.25 0.80722 D 1 P;D 0.62365 0.95;0.991 P;P 0.56127 0.487;0.792 T 0.68284 -0.5449 10 0.49607 T 0.09 -15.9844 19.4267 0.94743 0.0:1.0:0.0:0.0 . 917;917 Q8IWV8-4;Q8IWV8 .;UBR2_HUMAN L 917;917;421 ENSP00000361990:S917L;ENSP00000361992:S917L;ENSP00000361974:S421L ENSP00000361974:S421L S + 2 0 UBR2 42728342 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.084000 0.76866 2.582000 0.87167 0.655000 0.94253 TCA TCGA-F2-A7TX-01A-33D-A38G-08 UBR2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000040558.2 1 0 1 125 324 0 201 1 9.999018e-01 20 18 0 201 2 0 0 0 0 0 2 1 1.000000 122 317 0 200 2 0 0 0 0 201 2 -7.758702 1 1 121412 1 28 1 0 3 3 1.924341 1 0.190000 3.450000 0.260274 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 CYP2W1 54905 broad.mit.edu 37 7 1026862 1026862 + Silent SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr7:1026862C>T ENST00000308919.7 + 6 952 c.939C>T c.(937-939)ggC>ggT p.G313G CYP2W1_ENST00000340150.6_Silent_p.G257G NM_017781.2 NP_060251.2 Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, polypeptide 1 7 Ovarian(82;0.0112) TTCTGATGGGCCGGCACCCGG 0.716000 0 SO:0001819 synonymous_variant ENST00000308919.7 0 1 hg19 CCDS5319.2 TCGA-F2-A7TX-01A-33D-A38G-08 CYP2W1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000157249.1 0 0 0 3 17 0 8 0 8.283302e-01 0 21 0 8 2 0 0 0 0 0 2 1 0.796258 3 16 0 8 2 0 0 0 0 8 2 -10.317190 1 1 0 0 1 2 2 4 2.085861 0 0.190000 3.450000 0.319328 0.990000 0.610000 1.000000 1.000000 0.973268 0.990000 1 0.990000 1.000000 ASZ1 136991 broad.mit.edu 37 7 117008694 117008694 + Missense_Mutation SNP A A G TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr7:117008694A>G ENST00000284629.2 - 11 1195 c.1133T>C c.(1132-1134)aTt>aCt p.I378T NM_130768.2 NP_570124.1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TAACTCAGTAATAACATTCTG 0.308000 0 SO:0001583 missense ENST00000284629.2 0 1 hg19 CCDS5772.1 . . . . . . . . . . A 16.59 3.166072 0.57476 . . ENSG00000154438 ENST00000284629 T 0.29917 1.55 5.2 5.2 0.72013 . 0.287809 0.37437 N 0.002082 T 0.39009 0.1062 L 0.56769 1.78 0.35036 D 0.759246 D;D 0.58970 0.984;0.984 P;P 0.53360 0.724;0.724 T 0.50833 -0.8781 10 0.29301 T 0.29 -0.4577 9.8129 0.40835 0.745:0.0:0.0:0.255 . 378;378 B7ZM20;Q8WWH4 .;ASZ1_HUMAN T 378 ENSP00000284629:I378T ENSP00000284629:I378T I - 2 0 ASZ1 116795930 0.998000 0.40836 1.000000 0.80357 0.989000 0.77384 2.628000 0.46477 2.102000 0.63906 0.459000 0.35465 ATT TCGA-F2-A7TX-01A-33D-A38G-08 ASZ1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000138907.7 0 0 0 5 590 0 239 0 0 0 0 239 2 0 0 0 0 0 2 1 0.934956 5 580 0 237 2 0 0 0 0 239 2 -4.541776 1 0 0 0 1 2 2 4 2.083015 0 0.190000 3.450000 0.319328 0.110000 0.030000 0.240000 0.120000 0.125380 0.110000 0 0.060000 0.180000 DNAH11 8701 broad.mit.edu 37 7 21611423 21611423 + Splice_Site SNP G G T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr7:21611423G>T ENST00000409508.3 + 8 1456 c.e8-1 DNAH11_ENST00000328843.6_Splice_Site NM_001277115.1 NP_001264044.1 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 230 TTTTTACAAAGGATATATTTG 0.338000 Kartagener syndrome 0 SO:0001630 splice_region_variant Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome ENST00000409508.3 0 1 hg19 . . . . . . . . . . G 15.94 2.980317 0.53827 . . ENSG00000105877 ENST00000328843 . . . 5.86 4.99 0.66335 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 13.9369 0.64029 0.074:0.0:0.926:0.0 . . . . . -1 . . . + . . DNAH11 21577948 1.000000 0.71417 0.983000 0.44433 0.577000 0.36160 5.384000 0.66225 1.489000 0.48450 0.650000 0.86243 . TCGA-F2-A7TX-01A-33D-A38G-08 DNAH11-001 KNOWN basic|appris_candidate protein_coding protein_coding OTTHUMT00000326582.6 0 0 0 7 133 0 56 0 0 0 0 56 2 0 0 0 0 0 2 1 0.980483 7 131 0 56 2 0 0 0 0 56 2 -2.907756 1 1 0 0 1 2 2 4 2.085861 0 0.190000 3.450000 0.319328 0.660000 0.290000 1.000000 1.000000 0.678463 0.660000 0 0.450000 0.920000 FAM135B 51059 broad.mit.edu 37 8 139209792 139209792 + Missense_Mutation SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr8:139209792G>A ENST00000395297.1 - 8 960 c.790C>T c.(790-792)Cgg>Tgg p.R264W NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGGATGTCCCGCATGATCACC 0.622000 HNSCC(54;0.14) 0 SO:0001583 missense ENST00000395297.1 0 1 hg19 CCDS6375.2 . . . . . . . . . . G 17.23 3.335664 0.60853 . . ENSG00000147724 ENST00000395297 T 0.79554 -1.28 4.74 0.945 0.19543 . 0.242007 0.40818 N 0.001010 T 0.73552 0.3601 L 0.44542 1.39 0.34180 D 0.670854 D 0.61697 0.99 P 0.44477 0.451 T 0.78529 -0.2169 10 0.72032 D 0.01 -13.6729 11.2554 0.49050 0.0:0.0:0.6066:0.3934 . 264 Q49AJ0 F135B_HUMAN W 264 ENSP00000378710:R264W ENSP00000276737:R264W R - 1 2 FAM135B 139278974 0.999000 0.42202 0.998000 0.56505 0.628000 0.37860 0.437000 0.21543 0.002000 0.14630 -0.309000 0.09137 CGG TCGA-F2-A7TX-01A-33D-A38G-08 FAM135B-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313590.3 0 0 0 4 255 0 92 0 0 0 0 92 2 0 0 0 0 0 2 1 0.888331 4 252 0 92 2 0 0 0 0 92 2 -3.010639 1 1 121146 3 33 1 3 3 6 2.460283 1 0.190000 3.450000 0.413043 0.250000 0.070000 0.540000 0.240000 0.276679 0.250000 0 0.150000 0.390000 FAM135B 51059 broad.mit.edu 37 8 139380170 139380170 + Missense_Mutation SNP A A T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr8:139380170A>T ENST00000395297.1 - 2 227 c.57T>A c.(55-57)aaT>aaA p.N19K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGAGATCCACATTATAAAATT 0.378000 HNSCC(54;0.14) 0 SO:0001583 missense ENST00000395297.1 1 1 hg19 CCDS6375.2 . . . . . . . . . . A 20.4 3.982567 0.74474 . . ENSG00000147724 ENST00000395297;ENST00000160713;ENST00000520380 T 0.49720 0.77 5.54 1.82 0.25136 . 0.000000 0.56097 U 0.000024 T 0.58424 0.2121 M 0.83774 2.66 0.43683 D 0.996128 D 0.59767 0.986 P 0.53266 0.722 T 0.62081 -0.6929 10 0.87932 D 0 -4.8353 8.7599 0.34667 0.7748:0.0:0.2252:0.0 . 19 Q49AJ0 F135B_HUMAN K 19 ENSP00000378710:N19K ENSP00000160713:N19K N - 3 2 FAM135B 139449352 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 3.914000 0.56401 0.460000 0.27045 0.459000 0.35465 AAT TCGA-F2-A7TX-01A-33D-A38G-08 FAM135B-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313590.3 1 0 1 70 358 0 138 0 0 0 0 138 2 0 0 0 0 0 2 1 1.000000 68 343 0 135 2 0 0 0 0 138 2 -20.000000 1 1 0 0 1 3 3 6 2.460283 1 0.190000 3.450000 0.413043 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 OR13C2 392376 broad.mit.edu 37 9 107367884 107367884 + Missense_Mutation SNP G G C TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr9:107367884G>C ENST00000542196.1 - 1 67 c.25C>G c.(25-27)Ctg>Gtg p.L9V NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 p.L9V(1) 22 AATTCCACCAGAATGGTGTGG 0.373000 1 Substitution - Missense(1) SO:0001583 missense ENST00000542196.1 1 1 hg19 CCDS35092.1 . . . . . . . . . . G 0.006 -2.111042 0.00353 . . ENSG00000257019 ENST00000542196 T 0.00299 8.22 3.39 -1.19 0.09585 . 0.313759 0.16689 U 0.203629 T 0.00039 0.0001 N 0.00081 -2.22 0.09310 N 1 B 0.02656 0.0 B 0.04013 0.001 T 0.47114 -0.9142 10 0.02654 T 1 . 0.7009 0.00908 0.3362:0.1654:0.331:0.1674 . 9 Q8NGS9 O13C2_HUMAN V 9 ENSP00000438815:L9V ENSP00000438815:L9V L - 1 2 OR13C2 106407705 0.000000 0.05858 0.093000 0.20910 0.892000 0.51952 -2.895000 0.00707 -0.123000 0.11745 -0.379000 0.06801 CTG TCGA-F2-A7TX-01A-33D-A38G-08 OR13C2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053489.2 1 0 0 20 304 0 166 0 0 0 0 166 2 0 0 0 0 0 2 1 0.999995 20 300 0 234 2 0 0 0 0 166 2 -3.319213 1 1 0 0 1 0 3 3 1.925915 1 0.190000 3.450000 0.260274 0.710000 0.450000 1.000000 1.000000 0.731514 0.710000 0 0.570000 0.880000 RXRA 6256 broad.mit.edu 37 9 137328351 137328351 + Missense_Mutation SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 04d11793-f998-472a-81df-bca545178c43 d52d53f1-cb19-490a-853c-a8d6f6a5b7aa g.chr9:137328351C>T ENST00000481739.1 + 10 1332 c.1280C>T c.(1279-1281)tCc>tTc p.S427F RXRA_ENST00000540193.1_Missense_Mutation_p.S330F|RXRA_ENST00000356384.4_3'UTR NM_002957.4 NP_002948.1 P19793 RXRA_HUMAN retinoid X receptor, alpha 19 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749) GCTCTGCGCTCCATCGGGCTC 0.607000 0 SO:0001583 missense ENST00000481739.1 1 1 hg19 CCDS35172.1 . . . . . . . . . . C 27.4 4.825420 0.90955 . . ENSG00000186350 ENST00000481739;ENST00000540193 D;D 0.96940 -4.18;-4.18 4.76 4.76 0.60689 Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2); 0.000000 0.85682 D 0.000000 D 0.98369 0.9458 M 0.88241 2.94 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.99744 1.1016 10 0.87932 D 0 . 17.7817 0.88526 0.0:1.0:0.0:0.0 . 427 P19793 RXRA_HUMAN F 427;330 ENSP00000419692:S427F;ENSP00000442123:S330F ENSP00000419692:S427F S + 2 0 RXRA 136468172 1.000000 0.71417 1.000000 0.80357 0.974000 0.67602 7.532000 0.81985 2.193000 0.70182 0.591000 0.81541 TCC TCGA-F2-A7TX-01A-33D-A38G-08 RXRA-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054949.1 1 0 1 92 282 0 134 1 1 47 39 0 134 2 0 0 0 0 0 2 1 1.000000 91 272 0 132 2 0 0 0 0 134 2 -20.000000 1 1 0 0 1 0 3 3 1.925915 1 0.190000 3.450000 0.260274 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000