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 CUBN 8029 broad.mit.edu 37 10 16982060 16982060 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr10:16982060C>T ENST00000377833.4 - 37 5584 c.5519G>A c.(5518-5520)gGc>gAc p.G1840D NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAAGCCCGTGCCGCTGCCAGA 0.413000 0 SO:0001583 missense ENST00000377833.4 0 1 hg19 CCDS7113.1 . . . . . . . . . . C 5.381 0.255505 0.10185 . . ENSG00000107611 ENST00000377833 T 0.17528 2.27 6.16 2.85 0.33270 CUB (5); 0.284524 0.25305 N 0.031636 T 0.12902 0.0313 L 0.28400 0.85 0.80722 D 1 B 0.27013 0.166 B 0.32289 0.143 T 0.10683 -1.0619 10 0.30854 T 0.27 . 9.5798 0.39481 0.0:0.6956:0.1232:0.1812 . 1840 O60494 CUBN_HUMAN D 1840 ENSP00000367064:G1840D ENSP00000367064:G1840D G - 2 0 CUBN 17022066 0.000000 0.05858 0.051000 0.19133 0.016000 0.09150 0.060000 0.14342 0.907000 0.36646 0.650000 0.86243 GGC TCGA-FB-AAPS-01A-12D-A397-08 CUBN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047009.1 0 0 0 6 741 0 152 0 0 0 0 152 2 0 0 0 0 0 2 1 0.964475 6 737 0 152 2 0 0 0 0 0 2 -1.877142 0 1 0 0 1 0 1 1 1.983061 0 0.100000 2 0.090450 0.160000 0.060000 0.330000 0.160000 0.182462 0.160000 0 0.110000 0.250000 CUBN 8029 broad.mit.edu 37 10 17145151 17145151 + Silent SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr10:17145151G>A ENST00000377833.4 - 13 1568 c.1503C>T c.(1501-1503)ttC>ttT p.F501F NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGATAACCCAGAAGCAGTTAA 0.358000 0 SO:0001819 synonymous_variant ENST00000377833.4 1 1 hg19 CCDS7113.1 TCGA-FB-AAPS-01A-12D-A397-08 CUBN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047009.1 1 0 0 9 232 0 46 0 0 0 0 46 2 0 0 0 0 0 2 1 0.994255 9 230 0 45 2 0 0 0 0 0 2 -10.659270 1 1 121410 1 34 1 0 1 1 1.983061 0 0.100000 2 0.090450 0.740000 0.370000 1.000000 1.000000 0.752425 0.740000 0 0.530000 1.000000 LGR4 55366 broad.mit.edu 37 11 27390249 27390249 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr11:27390249G>A ENST00000379214.4 - 18 2464 c.2021C>T c.(2020-2022)aCa>aTa p.T674I LGR4_ENST00000389858.4_Missense_Mutation_p.T650I NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 32 GCCTGCTACTGTAGCACCTAG 0.438000 0 SO:0001583 missense ENST00000379214.4 1 1 hg19 CCDS31449.1 . . . . . . . . . . G 0.007 -1.985958 0.00443 . . ENSG00000205213 ENST00000379214;ENST00000389858 T;T 0.71103 -0.54;1.32 5.72 2.87 0.33458 GPCR, rhodopsin-like superfamily (1); 0.806293 0.11920 N 0.516808 T 0.45115 0.1326 N 0.03608 -0.345 0.26019 N 0.981899 B;B 0.15930 0.001;0.015 B;B 0.21917 0.004;0.037 T 0.31806 -0.9930 10 0.15952 T 0.53 . 8.7411 0.34558 0.3575:0.0:0.6425:0.0 . 650;674 G5E9B3;Q9BXB1 .;LGR4_HUMAN I 674;650 ENSP00000368516:T674I;ENSP00000374508:T650I ENSP00000368516:T674I T - 2 0 LGR4 27346825 0.499000 0.26083 0.001000 0.08648 0.565000 0.35776 2.094000 0.41719 0.359000 0.24239 -0.142000 0.14014 ACA TCGA-FB-AAPS-01A-12D-A397-08 LGR4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257467.1 1 0 0 19 345 0 67 0 1.979922e-01 1 14 0 67 2 0 0 0 0 0 2 1 0.999991 20 342 0 67 2 0 0 0 0 0 2 -3.322246 1 1 0 0 1 1 2 3 2.013211 0 0.100000 2 0.108470 0.990000 0.670000 1.000000 1.000000 0.951537 0.990000 1 0.860000 1.000000 UHRF1BP1L 23074 broad.mit.edu 37 12 100466468 100466468 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr12:100466468C>T ENST00000279907.7 - 12 1743 c.1531G>A c.(1531-1533)Gat>Aat p.D511N UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.D511N|UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D161N NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 50 TCCTTTCCATCTGGATAGTAA 0.274000 0 SO:0001583 missense ENST00000279907.7 1 1 hg19 CCDS31882.1 . . . . . . . . . . C 34 5.308215 0.95629 . . ENSG00000111647 ENST00000279907;ENST00000545232;ENST00000356828;ENST00000548045 T;T;T 0.38077 2.71;2.67;1.16 5.65 5.65 0.86999 . 0.000000 0.85682 D 0.000000 T 0.63260 0.2496 M 0.75264 2.295 0.80722 D 1 D;D 0.76494 0.998;0.999 D;D 0.81914 0.995;0.985 T 0.65240 -0.6216 10 0.72032 D 0.01 -21.0396 19.7072 0.96079 0.0:1.0:0.0:0.0 . 511;511 A0JNW5-2;A0JNW5 .;UH1BL_HUMAN N 511;161;511;100 ENSP00000279907:D511N;ENSP00000444824:D161N;ENSP00000349285:D511N ENSP00000279907:D511N D - 1 0 UHRF1BP1L 98990599 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.729000 0.84864 2.662000 0.90505 0.591000 0.81541 GAT TCGA-FB-AAPS-01A-12D-A397-08 UHRF1BP1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407875.1 1 0 0 13 265 0 63 0 7.704248e-03 0 3 0 63 2 0 0 0 0 0 2 1 0.999567 13 265 0 63 2 0 0 0 0 0 2 -3.225711 1 1 0 0 1 0 1 1 1.997310 0 0.100000 2 0.093656 0.930000 0.520000 1.000000 1.000000 0.878306 0.930000 1 0.700000 1.000000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 C T C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 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-FB-AAPS-01A-12D-A397-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 0 13 259 0 49 0 6.188499e-02 0 8 0 49 2 1 9.996447e-01 14 266 0 582 2 1 0.999536 13 256 0 48 2 1 1 524 7493 5 8006 12 -4.741986 1 1 121404 2 44 1 0 1 1 1.997310 0 0.100000 2 0.093656 0.950000 0.530000 1.000000 1.000000 0.888046 0.950000 1 0.720000 1.000000 MYO16 23026 broad.mit.edu 37 13 109859074 109859074 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr13:109859074G>A ENST00000357550.2 + 34 5508 c.5467G>A c.(5467-5469)Gag>Aag p.E1823K MYO16_ENST00000356711.2_Missense_Mutation_p.E1823K NM_001198950.1 NP_001185879.1 myosin XVI 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GCACCACGCTGAGCCCAGGGT 0.602000 0 SO:0001583 missense ENST00000357550.2 1 1 hg19 CCDS32008.1 . . . . . . . . . . G 16.06 3.016418 0.54468 . . ENSG00000041515 ENST00000356711;ENST00000357550 D;D 0.82344 -1.6;-1.6 4.34 4.34 0.51931 . 0.000000 0.40818 U 0.001003 D 0.84023 0.5381 L 0.53249 1.67 0.80722 D 1 D 0.55172 0.97 P 0.51833 0.681 D 0.83751 0.0209 9 . . . . 14.1841 0.65592 0.0:0.0:1.0:0.0 . 1823 Q9Y6X6 MYO16_HUMAN K 1823 ENSP00000349145:E1823K;ENSP00000350160:E1823K . E + 1 0 MYO16 108657075 1.000000 0.71417 0.914000 0.36105 0.088000 0.18126 6.105000 0.71505 2.248000 0.74166 0.563000 0.77884 GAG TCGA-FB-AAPS-01A-12D-A397-08 MYO16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045746.1 1 0 1 20 181 0 49 0 0 0 1 0 49 2 0 0 0 0 0 2 1 0.999996 20 178 0 48 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.017051 0 0.100000 2 0.109352 0.990000 0.990000 1.000000 1.000000 0.999850 0.990000 1 0.990000 1.000000 MTUS2 23281 broad.mit.edu 37 13 29599068 29599068 + Missense_Mutation SNP T T A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr13:29599068T>A ENST00000431530.3 + 1 321 c.263T>A c.(262-264)tTt>tAt p.F88Y NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 20 CATAAGGAATTTCACCAACTT 0.453000 0 SO:0001583 missense ENST00000431530.3 1 1 hg19 CCDS45022.1 . . . . . . . . . . t 8.487 0.861180 0.17178 . . ENSG00000132938 ENST00000431530 T 0.12672 2.66 5.37 -0.252 0.12999 . 0.731038 0.11928 N 0.515982 T 0.08179 0.0204 L 0.36672 1.1 0.09310 N 1 P 0.34757 0.467 B 0.34138 0.176 T 0.29058 -1.0024 9 . . . . 0.7446 0.00980 0.2493:0.3104:0.1316:0.3087 . 78 Q5JR59 MTUS2_HUMAN Y 88 ENSP00000392057:F88Y . F + 2 0 MTUS2 28497068 0.000000 0.05858 0.001000 0.08648 0.040000 0.13550 0.521000 0.22893 -0.033000 0.13736 -0.418000 0.06021 TTT TCGA-FB-AAPS-01A-12D-A397-08 MTUS2-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000044336.3 1 0 0 12 168 0 33 0 0 0 0 33 2 0 0 0 0 0 2 1 0.999070 12 163 0 33 2 0 0 0 0 0 2 -16.712310 1 1 0 0 1 1 2 3 2.017051 0 0.100000 2 0.109352 0.990000 0.760000 1.000000 1.000000 0.982546 0.990000 1 0.990000 1.000000 FREM2 341640 broad.mit.edu 37 13 39425162 39425162 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr13:39425162G>A ENST00000280481.7 + 10 6875 c.6659G>A c.(6658-6660)gGc>gAc p.G2220D NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) CTGGTACTCGGCACTCCACAA 0.468000 0 SO:0001583 missense ENST00000280481.7 0 1 hg19 CCDS31960.1 . . . . . . . . . . G 18.92 3.725627 0.68959 . . ENSG00000150893 ENST00000280481 T 0.27890 1.64 5.8 5.8 0.92144 Na-Ca exchanger/integrin-beta4 (1); 0.000000 0.85682 D 0.000000 T 0.63792 0.2541 M 0.87547 2.89 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 T 0.68678 -0.5345 10 0.87932 D 0 . 19.0387 0.92989 0.0:0.0:1.0:0.0 . 2220;2220 Q5SZK8-2;Q5SZK8 .;FREM2_HUMAN D 2220 ENSP00000280481:G2220D ENSP00000280481:G2220D G + 2 0 FREM2 38323162 1.000000 0.71417 0.291000 0.24904 0.025000 0.11179 9.457000 0.97630 2.749000 0.94314 0.650000 0.86243 GGC TCGA-FB-AAPS-01A-12D-A397-08 FREM2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044599.2 0 0 0 5 415 0 88 0 0 0 0 88 2 0 0 0 0 0 2 1 0.937502 5 414 0 88 2 0 0 0 0 0 2 -2.664359 1 1 0 0 1 1 2 3 2.017051 0 0.100000 2 0.109352 0.280000 0.100000 1.000000 0.240000 0.394946 0.280000 0 0.170000 0.690000 ASPG 374569 broad.mit.edu 37 14 104570767 104570767 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr14:104570767G>A ENST00000551177.1 + 8 972 c.880G>A c.(880-882)Gtc>Atc p.V294I ASPG_ENST00000455920.2_Missense_Mutation_p.V294I|ASPG_ENST00000546892.2_Missense_Mutation_p.V294I NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase 11 CCTGGTCATCGTCAACTGTAC 0.657000 0 SO:0001583 missense ENST00000551177.1 0 1 hg19 CCDS45170.2 . . . . . . . . . . G 9.447 1.089554 0.20390 2.34E-4 0.0 ENSG00000166183 ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920 T;T;T 0.32988 1.43;1.43;1.43 4.1 -0.315 0.12746 . 0.591503 0.16314 N 0.219861 T 0.17280 0.0415 L 0.40543 1.245 0.31470 N 0.668549 P;B;B;B 0.35542 0.508;0.097;0.303;0.239 B;B;B;B 0.28385 0.089;0.026;0.021;0.058 T 0.18840 -1.0324 10 0.27082 T 0.32 -10.5745 5.8295 0.18572 0.186:0.5239:0.2901:0.0 . 294;294;294;322 G3V1Y8;Q86U10;Q86U10-3;E5RFC2 .;LPP60_HUMAN;.;. I 294;322;294;294 ENSP00000450040:V294I;ENSP00000448911:V294I;ENSP00000389003:V294I ENSP00000299234:V322I V + 1 0 ASPG 103640520 0.000000 0.05858 0.875000 0.34327 0.497000 0.33675 -0.095000 0.11077 -0.132000 0.11557 0.462000 0.41574 GTC TCGA-FB-AAPS-01A-12D-A397-08 ASPG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407005.1 0 0 0 5 251 0 54 0 0 0 1 0 54 2 0 0 0 0 0 2 1 0.937505 5 250 0 53 2 0 0 0 0 0 2 -6.047062 1 1 0 0 1 1 2 3 2.015332 0 0.100000 2 0.108911 0.460000 0.160000 1.000000 0.380000 0.536739 0.460000 0 0.280000 0.980000 PTGER2 5732 broad.mit.edu 37 14 52781689 52781689 + Silent SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr14:52781689C>T ENST00000245457.5 + 1 577 c.423C>T c.(421-423)ccC>ccT p.P141P PTGER2_ENST00000557436.1_Intron NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929) TCGGGCACCCCTACTTCTACC 0.642000 0 SO:0001819 synonymous_variant ENST00000245457.5 1 1 hg19 CCDS9708.1 TCGA-FB-AAPS-01A-12D-A397-08 PTGER2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276890.1 1 0 0 17 378 0 95 0 2.627026e-01 0 22 0 95 2 0 0 0 0 0 2 1 0.999965 17 375 0 94 2 0 0 0 0 0 2 -2.778193 1 1 0 0 1 1 2 3 2.015332 0 0.100000 2 0.108911 0.920000 0.540000 1.000000 1.000000 0.876183 0.920000 1 0.700000 1.000000 SMOC1 64093 broad.mit.edu 37 14 70418995 70418995 + Silent SNP C C T rs111874562 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr14:70418995C>T ENST00000381280.4 + 2 493 c.240C>T c.(238-240)ggC>ggT p.G80G SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Silent_p.G80G NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 21 CGACCCTGGGCGTGGTGCATC 0.597000 0 SO:0001819 synonymous_variant ENST00000381280.4 1 1 hg19 CCDS9798.1 TCGA-FB-AAPS-01A-12D-A397-08 SMOC1-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000412467.1 1 0 0 13 298 0 87 0 1.196952e-02 0 4 0 87 2 0 0 0 0 0 2 1 0.999522 12 295 0 86 2 0 0 0 0 0 2 -4.266652 1 1 121412 6 40 1 1 2 3 2.015332 0 0.100000 2 0.108911 0.900000 0.490000 1.000000 1.000000 0.858754 0.900000 1 0.670000 1.000000 KCNK10 54207 broad.mit.edu 37 14 88729828 88729828 + Silent SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr14:88729828C>T ENST00000340700.5 - 2 556 c.105G>A c.(103-105)ccG>ccA p.P35P KCNK10_ENST00000312350.5_Silent_p.P40P|KCNK10_ENST00000319231.5_Silent_p.P40P NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 47 GAGTCGGAGCCGGAGCCGGGG 0.642000 0 SO:0001819 synonymous_variant ENST00000340700.5 0 1 hg19 CCDS9880.1 TCGA-FB-AAPS-01A-12D-A397-08 KCNK10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000410167.1 0 0 0 7 567 0 117 0 0 0 0 117 2 0 0 0 0 0 2 1 0.979716 6 560 0 117 2 0 0 0 0 0 2 -5.115172 1 0 0 0 1 1 2 3 2.015332 0 0.100000 2 0.108911 0.280000 0.110000 1.000000 0.240000 0.386236 0.280000 0 0.180000 0.550000 ATG2B 55102 broad.mit.edu 37 14 96779761 96779761 + Missense_Mutation SNP G G T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr14:96779761G>T ENST00000359933.4 - 24 4547 c.3654C>A c.(3652-3654)ttC>ttA p.F1218L ATG2B_ENST00000261834.5_5'Flank NM_018036.5 NP_060506 Q96BY7 ATG2B_HUMAN autophagy related 2B 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) CAATATTCAAGAAGTATAAAA 0.303000 0 SO:0001583 missense ENST00000359933.4 1 1 hg19 CCDS9944.2 . . . . . . . . . . G 21.3 4.122650 0.77436 . . ENSG00000066739 ENST00000359933 T 0.11169 2.8 5.73 4.83 0.62350 . 0.000000 0.85682 D 0.000000 T 0.26702 0.0653 M 0.71036 2.16 0.58432 D 0.999994 D 0.69078 0.997 D 0.70716 0.97 T 0.01587 -1.1318 10 0.40728 T 0.16 . 7.5215 0.27631 0.2796:0.0:0.7204:0.0 . 1218 Q96BY7 ATG2B_HUMAN L 1218 ENSP00000353010:F1218L ENSP00000353010:F1218L F - 3 2 ATG2B 95849514 1.000000 0.71417 1.000000 0.80357 0.974000 0.67602 3.278000 0.51662 1.394000 0.46624 0.655000 0.94253 TTC TCGA-FB-AAPS-01A-12D-A397-08 ATG2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000314037.1 1 0 0 17 284 0 56 1 9.850936e-02 2 7 0 56 2 0 0 0 0 0 2 1 0.999967 17 282 0 56 2 0 0 0 0 0 2 -19.342700 1 1 0 0 1 1 2 3 2.015332 0 0.100000 2 0.108911 0.990000 0.710000 1.000000 1.000000 0.967627 0.990000 1 0.920000 1.000000 MAPKBP1 23005 broad.mit.edu 37 15 42109604 42109604 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr15:42109604G>A ENST00000456763.2 + 16 1944 c.1748G>A c.(1747-1749)cGc>cAc p.R583H MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R577H|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R460H|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R577H|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R416H NM_001128608.1 NP_001122080.1 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) GGGCAAGTCCGCATGATCAGC 0.612000 0 SO:0001583 missense ENST00000456763.2 0 1 hg19 CCDS45239.1 . . . . . . . . . . g 32 5.110217 0.94292 . . ENSG00000137802 ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566 T;T;T;T;T 0.59906 0.23;0.23;0.23;0.23;0.23 5.67 5.67 0.87782 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.000000 0.85682 D 0.000000 T 0.71443 0.3340 L 0.43152 1.355 0.51767 D 0.99993 D;D;D;P;P 0.89917 1.0;0.999;1.0;0.92;0.892 D;D;D;P;P 0.79108 0.992;0.921;0.977;0.658;0.452 T 0.71705 -0.4512 10 0.59425 D 0.04 -17.6502 19.7785 0.96405 0.0:0.0:1.0:0.0 . 416;460;577;583;577 F8WC21;O60336-3;O60336-2;O60336;O60336-6 .;.;.;MABP1_HUMAN;. H 577;460;416;583;577 ENSP00000397570:R577H;ENSP00000221214:R460H;ENSP00000260357:R416H;ENSP00000393099:R583H;ENSP00000426154:R577H ENSP00000221214:R460H R + 2 0 MAPKBP1 39896896 1.000000 0.71417 1.000000 0.80357 0.969000 0.65631 8.059000 0.89462 2.667000 0.90743 0.563000 0.77884 CGC TCGA-FB-AAPS-01A-12D-A397-08 MAPKBP1-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000359745.1 0 0 0 5 355 0 81 0 8.197939e-03 0 8 0 81 2 0 0 0 0 0 2 1 0.936580 5 352 0 81 2 0 0 0 0 0 2 -2.411422 0 1 121412 6 38 1 0 1 1 1.984148 0 0.100000 2 0.090909 0.290000 0.110000 0.590000 0.270000 0.319078 0.290000 0 0.180000 0.440000 FSD2 123722 broad.mit.edu 37 15 83438550 83438550 + Missense_Mutation SNP T T C TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr15:83438550T>C ENST00000334574.8 - 8 1535 c.1354A>G c.(1354-1356)Aac>Gac p.N452D FSD2_ENST00000541889.1_Intron A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 18 CCAGCCCTGTTGTGAGCTGTG 0.478000 0 SO:0001583 missense ENST00000334574.8 0 1 hg19 CCDS45332.1 . . . . . . . . . . T 27.6 4.843035 0.91197 . . ENSG00000186628 ENST00000334574 T 0.61859 0.07 5.82 5.82 0.92795 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.000000 0.85682 D 0.000000 T 0.76456 0.3990 M 0.79475 2.455 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.78298 -0.2258 10 0.52906 T 0.07 -44.4125 15.3589 0.74453 0.0:0.0:0.0:1.0 . 452 A1L4K1 FSD2_HUMAN D 452 ENSP00000335651:N452D ENSP00000335651:N452D N - 1 0 FSD2 81235604 1.000000 0.71417 1.000000 0.80357 0.861000 0.49209 7.299000 0.78831 2.225000 0.72522 0.459000 0.35465 AAC TCGA-FB-AAPS-01A-12D-A397-08 FSD2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000418385.1 0 0 0 30 295 1 70 0 0 0 1 70 2 0 0 0 0 0 2 1 0.988309 30 292 1 68 16 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 1.987728 0 0.100000 2 0.091368 0.990000 0.990000 1.000000 1.000000 0.999896 0.990000 1 0.990000 1.000000 ATP2C2 9914 broad.mit.edu 37 16 84476138 84476138 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr16:84476138C>T ENST00000262429.4 + 15 1423 c.1334C>T c.(1333-1335)gCg>gTg p.A445V ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.A445V NM_014861.2 NP_055676.2 O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 33 GCCAACAATGCGGTCATCAGA 0.552000 0 SO:0001583 missense ENST00000262429.4 1 1 hg19 CCDS42207.1 . . . . . . . . . . C 29.5 5.015619 0.93404 0.0 1.21E-4 ENSG00000064270 ENST00000416219;ENST00000262429;ENST00000420010 T;T 0.74002 -0.8;-0.8 4.92 4.92 0.64577 ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1); 0.416605 0.24280 N 0.039912 D 0.86851 0.6032 M 0.80616 2.505 0.80722 D 1 D;D;D;D 0.89917 0.998;0.999;0.989;1.0 D;D;P;D 0.81914 0.918;0.987;0.79;0.995 D 0.88725 0.3232 10 0.87932 D 0 . 17.4464 0.87579 0.0:1.0:0.0:0.0 . 445;294;462;445 E7ES94;F8WAA5;O75185-2;O75185 .;.;.;AT2C2_HUMAN V 445;445;294 ENSP00000397925:A445V;ENSP00000262429:A445V ENSP00000262429:A445V A + 2 0 ATP2C2 83033639 1.000000 0.71417 0.938000 0.37757 0.625000 0.37756 7.069000 0.76755 2.436000 0.82500 0.491000 0.48974 GCG TCGA-FB-AAPS-01A-12D-A397-08 ATP2C2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000433404.1 0 0 0 77 1026 1 246 0 0 0 1 246 2 0 0 0 0 0 2 1 1.000000 76 1021 1 245 16 0 0 0 0 0 2 -12.787620 1 0 0 0 1 0 1 1 1.948083 0 0.100000 2 0.075501 0.990000 0.990000 1.000000 1.000000 0.999797 0.990000 1 0.990000 1.000000 TUBG1 7283 broad.mit.edu 37 17 40767013 40767013 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr17:40767013C>T ENST00000251413.3 + 11 1372 c.1310C>T c.(1309-1311)gCg>gTg p.A437V NM_001070.4 NP_001061.2 P23258 TBG1_HUMAN tubulin, gamma 1 12 Breast(137;0.00116) Vinblastine(DB00570) GAGTACCATGCGGCCACACGG 0.577000 Colon(20;114 698 11420 22864) 0 SO:0001583 missense ENST00000251413.3 0 1 hg19 CCDS11433.1 . . . . . . . . . . C 19.90 3.912393 0.72983 2.27E-4 0.0 ENSG00000131462 ENST00000251413 D 0.84873 -1.91 5.02 5.02 0.67125 Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1); 0.000000 0.64402 D 0.000001 D 0.83008 0.5161 M 0.82517 2.595 0.80722 D 1 P 0.46621 0.881 B 0.20184 0.028 D 0.87729 0.2578 10 0.72032 D 0.01 -12.5776 18.361 0.90374 0.0:1.0:0.0:0.0 . 437 P23258 TBG1_HUMAN V 437 ENSP00000251413:A437V ENSP00000251413:A437V A + 2 0 TUBG1 38020539 1.000000 0.71417 0.959000 0.39883 0.970000 0.65996 7.794000 0.85869 2.339000 0.79563 0.563000 0.77884 GCG TCGA-FB-AAPS-01A-12D-A397-08 TUBG1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450548.1 0 0 0 5 372 0 58 0 3.374605e-01 0 77 0 58 2 0 0 0 0 0 2 1 0.937937 5 372 0 58 2 0 0 0 0 0 2 -2.371365 0 1 121412 3 36 1 1 2 3 2.157769 1 0.100000 2 0.142857 0.300000 0.110000 0.600000 0.270000 0.327160 0.300000 0 0.190000 0.450000 AOC3 8639 broad.mit.edu 37 17 41006599 41006599 + Missense_Mutation SNP G G A rs151291423 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr17:41006599G>A ENST00000308423.2 + 2 1895 c.1735G>A c.(1735-1737)Gtg>Atg p.V579M AOC3_ENST00000591562.1_Missense_Mutation_p.V36M NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 41 Breast(137;0.000143) Hydralazine(DB01275)|Phenelzine(DB00780) CGCCTTCCTCGTGGGAAGCGC 0.652000 NSCLC(3;192 220 10664 11501 16477) 0 SO:0001583 missense ENST00000308423.2 1 1 hg19 CCDS11444.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 6.783 0.513399 0.12944 4.54E-4 0.0 ENSG00000131471 ENST00000308423 T 0.04119 3.7 5.32 -2.88 0.05682 Copper amine oxidase, C-terminal (3); 0.357546 0.26549 N 0.023746 T 0.01835 0.0058 N 0.08118 0 0.09310 N 1 B 0.13594 0.008 B 0.14023 0.01 T 0.39292 -0.9621 10 0.39692 T 0.17 . 2.3969 0.04392 0.3096:0.3338:0.2405:0.1161 . 579 Q16853 AOC3_HUMAN M 579 ENSP00000312326:V579M ENSP00000312326:V579M V + 1 0 AOC3 38260125 0.001000 0.12720 0.879000 0.34478 0.007000 0.05969 0.172000 0.16704 -0.045000 0.13468 -1.127000 0.01993 GTG TCGA-FB-AAPS-01A-12D-A397-08 AOC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452444.1 1 0 0 13 238 0 46 0 9.321191e-01 0 87 0 46 2 0 0 0 0 0 2 1 0.999512 13 233 0 46 2 0 0 0 0 0 2 -15.466960 1 1 121410 5 35 1 1 2 3 2.157769 1 0.100000 2 0.142857 0.990000 0.620000 1.000000 1.000000 0.942594 0.990000 1 0.830000 1.000000 AMZ2 51321 broad.mit.edu 37 17 66251858 66251858 + Silent SNP C C T rs138911562 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr17:66251858C>T ENST00000359904.3 + 6 1900 c.768C>T c.(766-768)atC>atT p.I256I AMZ2_ENST00000359783.4_Silent_p.I198I|AMZ2_ENST00000580753.1_Silent_p.I256I|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000392720.2_Silent_p.I256I|AMZ2_ENST00000577866.1_Silent_p.I256I|AMZ2_ENST00000577985.1_Silent_p.I256I NM_016627.4 NP_057711.3 Q86W34 AMZ2_HUMAN archaelysin family metallopeptidase 2 9 all_cancers(12;1.12e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) CCCATGAGATCGGACACATAT 0.478000 0 SO:0001819 synonymous_variant ENST00000359904.3 0 1 hg19 CCDS11674.1 TCGA-FB-AAPS-01A-12D-A397-08 AMZ2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000448261.1 0 0 0 5 423 0 89 1 6.311465e-01 4 164 0 89 2 0 0 0 0 0 2 1 0.935544 5 417 0 88 2 0 0 0 0 0 2 -2.621214 1 1 121412 26 47 1 0 1 1 1.991006 0 0.100000 2 0.092284 0.240000 0.090000 0.500000 0.230000 0.270353 0.240000 0 0.150000 0.370000 TP53 7157 broad.mit.edu 37 17 7578395 7578395 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr17:7578395G>A ENST00000269305.4 - 5 724 c.535C>T c.(535-537)Cat>Tat p.H179Y TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000420246.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y 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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) CAGCGCTCATGGTGGGGGCAG 0.642000 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 197 Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1) GRCh37 CM067054 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 . . . . . . . . . . G 32 5.137178 0.94517 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315 D;D;D;D;D;D;D;D 0.99909 -7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87 5.59 5.59 0.84812 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.048592 0.85682 D 0.000000 D 0.99914 0.9959 M 0.88640 2.97 0.80722 D 1 D;D;D;D;D;D;D 0.89917 0.992;1.0;0.989;1.0;0.999;1.0;0.997 D;D;D;D;D;D;D 0.97110 0.953;0.997;0.941;1.0;0.993;0.995;0.958 D 0.96190 0.9137 10 0.87932 D 0 -15.4889 17.4784 0.87667 0.0:0.0:1.0:0.0 . 140;179;179;86;179;179;179 B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7 .;.;.;.;P53_HUMAN;.;. Y 179;179;179;179;179;179;168;86;47;86;47 ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y ENSP00000269305:H179Y H - 1 0 TP53 7519120 1.000000 0.71417 0.990000 0.47175 0.864000 0.49448 9.813000 0.99286 2.804000 0.96469 0.655000 0.94253 CAT TCGA-FB-AAPS-01A-12D-A397-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 0 24 307 0 72 1 7.205393e-01 2 32 0 72 2 1 1 51 738 1 1207 6 1 1.000000 24 306 0 72 2 0 0 0 0 0 2 -3.221897 1 1 0 0 1 0 1 1 1.896288 1 0.100000 2 0.052632 0.920000 0.710000 1.000000 0.990000 0.913308 0.920000 1 0.830000 0.980000 NAPG 8774 broad.mit.edu 37 18 10530778 10530778 + Missense_Mutation SNP G G T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr18:10530778G>T ENST00000322897.6 + 2 137 c.68G>T c.(67-69)gGt>gTt p.G23V NAPG_ENST00000542979.1_Intron NM_003826.2 NP_003817.1 Q99747 SNAG_HUMAN N-ethylmaleimide-sensitive factor attachment protein, gamma 4 CTGAAAACTGGTTTTTTAAAA 0.353000 0 SO:0001583 missense ENST00000322897.6 0 1 hg19 CCDS45827.1 . . . . . . . . . . G 14.98 2.697849 0.48307 . . ENSG00000134265 ENST00000322897 T 0.38240 1.15 5.42 5.42 0.78866 Tetratricopeptide-like helical (1); 0.139931 0.64402 D 0.000004 T 0.33411 0.0862 N 0.19112 0.55 0.80722 D 1 P 0.44429 0.835 P 0.44477 0.451 T 0.15464 -1.0436 10 0.66056 D 0.02 -4.1077 19.4084 0.94658 0.0:0.0:1.0:0.0 . 23 Q99747 SNAG_HUMAN V 23 ENSP00000324628:G23V ENSP00000324628:G23V G + 2 0 NAPG 10520778 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 9.009000 0.93606 2.820000 0.97059 0.650000 0.86243 GGT TCGA-FB-AAPS-01A-12D-A397-08 NAPG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000444873.1 0 0 1 5 49 0 12 0 3.299676e-01 1 10 0 12 2 0 0 0 0 0 2 1 0.940652 5 49 0 12 2 0 0 0 0 0 2 -10.347180 1 1 0 0 1 0 0 0 1.969049 0 0.100000 2 0.079755 0.990000 0.560000 1.000000 1.000000 0.949109 0.990000 1 0.870000 1.000000 NXNL1 115861 broad.mit.edu 37 19 17571500 17571500 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:17571500C>T ENST00000301944.2 - 1 263 c.179G>A c.(178-180)cGg>cAg p.R60Q CTD-2521M24.10_ENST00000594663.1_5'UTR NM_138454.1 NP_612463.1 Q96CM4 NXNL1_HUMAN nucleoredoxin-like 1 6 ATCTGTGAGCCGCACGAAGAA 0.612000 0 SO:0001583 missense ENST00000301944.2 1 1 hg19 CCDS12360.1 . . . . . . . . . . c 10.87 1.472826 0.26423 2.27E-4 0.0 ENSG00000171773 ENST00000301944 T 0.80123 -1.34 3.92 1.63 0.23807 Thioredoxin-like fold (3); 0.201829 0.37012 N 0.002283 T 0.55353 0.1915 N 0.16708 0.43 0.29006 N 0.887146 P 0.49635 0.926 B 0.33339 0.162 T 0.55805 -0.8083 10 0.25106 T 0.35 -24.7216 7.195 0.25847 0.0:0.7457:0.0:0.2543 . 60 Q96CM4 NXNL1_HUMAN Q 60 ENSP00000305631:R60Q ENSP00000305631:R60Q R - 2 0 NXNL1 17432500 0.000000 0.05858 0.919000 0.36401 0.529000 0.34654 0.379000 0.20585 0.860000 0.35481 0.467000 0.42956 CGG TCGA-FB-AAPS-01A-12D-A397-08 NXNL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463803.1 1 0 0 21 327 0 61 0 0 0 0 61 2 0 0 0 0 0 2 1 0.999998 21 325 0 60 2 0 0 0 0 0 2 -2.921031 1 1 121410 5 35 1 1 2 3 2.026383 0 0.100000 2 0.111550 0.990000 0.800000 1.000000 1.000000 0.984599 0.990000 1 0.990000 1.000000 WDR62 284403 broad.mit.edu 37 19 36572414 36572414 + Missense_Mutation SNP G G T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:36572414G>T ENST00000270301.7 + 10 1313 c.1313G>T c.(1312-1314)cGc>cTc p.R438L WDR62_ENST00000388999.3_Missense_Mutation_p.R438L|WDR62_ENST00000401500.2_Missense_Mutation_p.R438L O43379 WDR62_HUMAN WD repeat domain 62 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) AACACCATTCGCTTCTGGAAC 0.463000 0 SO:0001583 missense ENST00000270301.7 1 1 hg19 CCDS33001.1 . . . . . . . . . . G 33 5.246220 0.95272 . . ENSG00000075702 ENST00000401500;ENST00000388999;ENST00000270301 T;T;T 0.67698 -0.28;-0.28;-0.28 5.23 5.23 0.72850 WD40/YVTN repeat-like-containing domain (2);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.000000 0.85682 D 0.000000 D 0.84524 0.5491 M 0.89287 3.02 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 0.999;1.0 D 0.87579 0.2483 10 0.87932 D 0 -37.3853 16.3039 0.82841 0.0:0.0:1.0:0.0 . 438;438 O43379-4;O43379 .;WDR62_HUMAN L 438 ENSP00000384792:R438L;ENSP00000373651:R438L;ENSP00000270301:R438L ENSP00000270301:R438L R + 2 0 WDR62 41264254 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 9.460000 0.97641 2.462000 0.83206 0.655000 0.94253 CGC TCGA-FB-AAPS-01A-12D-A397-08 WDR62-006 NOVEL basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000457436.1 1 0 0 27 534 0 112 0 7.400104e-03 1 2 0 112 2 0 0 0 0 0 2 1 1.000000 27 531 0 111 2 0 0 0 0 0 2 -4.767748 1 0 0 0 1 1 2 3 2.026383 0 0.100000 2 0.111550 0.990000 0.670000 1.000000 1.000000 0.937851 0.990000 1 0.830000 1.000000 CATSPERG 57828 broad.mit.edu 37 19 38858385 38858385 + Missense_Mutation SNP G G A rs147603617 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:38858385G>A ENST00000409235.3 + 25 3014 c.2899G>A c.(2899-2901)Gaa>Aaa p.E967K CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.E927K NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 40 CAGTGAGGACGAAATCTACCG 0.592000 0 SO:0001583 missense ENST00000409235.3 1 1 hg19 CCDS12514.2 . . . . . . . . . . G 15.36 2.811016 0.50421 0.0 1.16E-4 ENSG00000099338 ENST00000410018;ENST00000409235;ENST00000409410 T;T 0.57273 0.41;0.41 3.93 3.93 0.45458 . 0.165988 0.28214 N 0.016180 T 0.47857 0.1468 L 0.29908 0.895 0.80722 D 1 D;P 0.60160 0.987;0.876 P;B 0.50162 0.633;0.176 T 0.52593 -0.8555 10 0.72032 D 0.01 -10.9001 11.3115 0.49366 0.0:0.0:1.0:0.0 . 967;927 Q6ZRH7;B8ZZI7 CTSRG_HUMAN;. K 927;967;967 ENSP00000387057:E927K;ENSP00000386962:E967K ENSP00000386962:E967K E + 1 0 CATSPERG 43550225 0.982000 0.34865 0.772000 0.31596 0.164000 0.22412 2.970000 0.49240 2.002000 0.58637 0.484000 0.47621 GAA TCGA-FB-AAPS-01A-12D-A397-08 CATSPERG-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000330204.1 1 0 0 75 1204 0 284 0 0 0 0 284 2 0 0 0 0 0 2 1 1.000000 75 1195 0 283 2 0 0 0 0 0 2 -10.075920 1 1 121412 5 42 1 1 2 3 2.026383 0 0.100000 2 0.111550 0.990000 0.950000 1.000000 1.000000 0.997294 0.990000 1 0.990000 1.000000 XRCC1 7515 broad.mit.edu 37 19 44055781 44055781 + Missense_Mutation SNP C C A rs2271980 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:44055781C>A ENST00000262887.5 - 10 1688 c.1141G>T c.(1141-1143)Gtg>Ttg p.V381L L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Missense_Mutation_p.V350L P18887 XRCC1_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 1 19 Prostate(69;0.0153) TCCTTACGCACGATGCGGCCT 0.622000 Other BER factors 0 SO:0001583 missense ENST00000262887.5 0 1 hg19 CCDS12624.1 . . . . . . . . . . C 28.3 4.907354 0.92107 . . ENSG00000073050 ENST00000458471;ENST00000262887;ENST00000543982 D;D 0.82619 -1.63;-1.63 5.16 4.11 0.48088 BRCT (4); 0.000000 0.85682 D 0.000000 D 0.89329 0.6684 M 0.72479 2.2 0.80722 D 1 B;D 0.69078 0.041;0.997 B;D 0.71656 0.028;0.974 D 0.89976 0.4097 10 0.56958 D 0.05 -22.7288 13.6093 0.62068 0.1567:0.8433:0.0:0.0 . 350;381 F5H8D7;P18887 .;XRCC1_HUMAN L 395;381;350 ENSP00000262887:V381L;ENSP00000443671:V350L ENSP00000262887:V381L V - 1 0 XRCC1 48747621 1.000000 0.71417 0.977000 0.42913 0.996000 0.88848 5.071000 0.64382 1.472000 0.48140 0.655000 0.94253 GTG TCGA-FB-AAPS-01A-12D-A397-08 XRCC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463194.1 1 0 0 26 533 0 126 1 7.250238e-01 3 51 0 126 2 0 0 0 0 0 2 1 1.000000 26 523 0 124 2 0 0 0 0 0 2 -4.886227 1 1 0 0 1 1 2 3 2.026383 0 0.100000 2 0.111550 0.990000 0.640000 1.000000 1.000000 0.923661 0.990000 1 0.800000 1.000000 SPTA1 6708 broad.mit.edu 37 1 158592846 158592846 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:158592846C>T ENST00000368147.4 - 43 6227 c.6047G>A c.(6046-6048)cGc>cAc p.R2016H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 p.R2016H(1) 307 all_hematologic(112;0.0378) CTGTTCCCAGCGCTTCAGCAG 0.478000 1 Substitution - Missense(1) SO:0001583 missense ENST00000368147.4 1 1 hg19 CCDS41423.1 . . . . . . . . . . C 10.22 1.288856 0.23478 7.75E-4 1.21E-4 ENSG00000163554 ENST00000368148;ENST00000368147 T;T 0.40476 1.03;1.03 4.78 -1.49 0.08718 . . . . . T 0.17619 0.0423 L 0.56340 1.77 0.38903 D 0.957367 P 0.47106 0.89 B 0.41723 0.365 T 0.10132 -1.0643 9 0.40728 T 0.16 . 5.6431 0.17575 0.1234:0.5367:0.0:0.3399 . 2016 P02549 SPTA1_HUMAN H 2016;2013 ENSP00000357130:R2016H;ENSP00000357129:R2013H ENSP00000357129:R2013H R - 2 0 SPTA1 156859470 0.999000 0.42202 0.633000 0.29310 0.020000 0.10135 0.741000 0.26202 -0.360000 0.08138 -0.136000 0.14681 CGC TCGA-FB-AAPS-01A-12D-A397-08 SPTA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051851.3 1 0 0 56 1083 1 259 0 0 0 1 259 2 0 0 0 0 0 2 1 1.000000 54 1079 1 259 16 0 0 0 0 0 2 -6.495884 1 1 120846 19 49 1 1 2 3 2.019297 0 0.100000 2 0.109792 0.990000 0.760000 1.000000 1.000000 0.958069 0.990000 1 0.880000 1.000000 BAI2 576 broad.mit.edu 37 1 32196581 32196581 + Silent SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:32196581G>A ENST00000373658.3 - 29 4541 c.4200C>T c.(4198-4200)tcC>tcT p.S1400S BAI2_ENST00000257070.4_Silent_p.S1367S|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Silent_p.S1009S|BAI2_ENST00000398542.1_Silent_p.S1300S|BAI2_ENST00000398556.3_Silent_p.S1315S|BAI2_ENST00000398547.1_Silent_p.S1333S|BAI2_ENST00000527361.1_Silent_p.S1367S|BAI2_ENST00000398538.1_Silent_p.S1388S|BAI2_ENST00000373655.2_Silent_p.S1400S NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) AGTGGTCCACGGACAGGAAGC 0.692000 0 SO:0001819 synonymous_variant ENST00000373658.3 1 1 hg19 CCDS346.2 TCGA-FB-AAPS-01A-12D-A397-08 BAI2-015 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000381838.1 1 0 0 12 238 0 46 0 3.679733e-01 0 25 0 46 2 0 0 0 0 0 2 1 0.999161 12 237 0 46 2 0 0 0 0 0 2 -3.240184 1 1 121212 2 33 1 1 2 3 2.019608 0 0.100000 2 0.109792 0.990000 0.550000 1.000000 1.000000 0.914315 0.990000 1 0.760000 1.000000 RSPO1 284654 broad.mit.edu 37 1 38079563 38079563 + Splice_Site SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:38079563C>T ENST00000401069.1 - 6 1150 c.438G>A c.(436-438)gcG>gcA p.A146A RSPO1_ENST00000356545.2_Splice_Site_p.A146A|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000373059.1_Splice_Site_p.A119A|RSPO1_ENST00000401068.1_Splice_Site_p.A146A NM_001242908.1 NP_001229837.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TTTCACATTGCGCTGGCAGGA 0.617000 GBM(122;680 2230 27822 42821) 0 SO:0001630 splice_region_variant ENST00000401069.1 1 0 hg19 CCDS41304.1 TCGA-FB-AAPS-01A-12D-A397-08 RSPO1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000012477.2 1 0 1 37 293 0 60 0 0 0 1 0 60 2 0 0 0 0 0 2 1 1.000000 37 291 0 59 2 0 0 0 0 0 2 -3.017769 1 1 120878 5 40 1 1 2 3 2.019608 0 0.100000 2 0.109792 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 RNF220 55182 broad.mit.edu 37 1 44878230 44878230 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:44878230G>A ENST00000355387.2 + 2 911 c.461G>A c.(460-462)cGc>cAc p.R154H RNF220_ENST00000361799.2_Missense_Mutation_p.R154H|RNF220_ENST00000372247.2_Missense_Mutation_p.R154H Q5VTB9 RN220_HUMAN ring finger protein 220 29 CCCCACTTGCGCTTCTCAGAT 0.537000 0 SO:0001583 missense ENST00000355387.2 1 1 hg19 CCDS510.1 . . . . . . . . . . G 23.3 4.405361 0.83230 . . ENSG00000187147 ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247 . . . 5.69 5.69 0.88448 . 0.114405 0.64402 N 0.000010 T 0.66867 0.2833 L 0.27053 0.805 0.80722 D 1 D 0.71674 0.998 D 0.69479 0.964 T 0.70011 -0.4989 9 0.87932 D 0 . 19.8074 0.96536 0.0:0.0:1.0:0.0 . 154 Q5VTB9 RN220_HUMAN H 154 . ENSP00000347548:R154H R + 2 0 RNF220 44650817 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 9.476000 0.97823 2.684000 0.91462 0.655000 0.94253 CGC TCGA-FB-AAPS-01A-12D-A397-08 RNF220-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000020683.4 1 0 0 21 467 0 97 0 0 0 1 0 97 2 0 0 0 0 0 2 1 0.999997 21 464 0 97 2 0 0 0 0 0 2 -3.292624 1 1 0 0 1 1 2 3 2.019608 0 0.100000 2 0.109792 0.920000 0.570000 1.000000 1.000000 0.881410 0.920000 1 0.720000 1.000000 DGCR2 9993 broad.mit.edu 37 22 19050735 19050735 + Missense_Mutation SNP C C A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr22:19050735C>A ENST00000263196.7 - 5 852 c.605G>T c.(604-606)cGc>cTc p.R202L DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000545799.1_Missense_Mutation_p.R199L|DGCR2_ENST00000537045.1_Missense_Mutation_p.R161L NM_001184781.1|NM_005137.2 NP_001171710.1|NP_005128.1 P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 18 Colorectal(54;0.0993) CACCTCCCAGCGACCTTCCAA 0.587000 0 SO:0001583 missense ENST00000263196.7 1 1 hg19 CCDS33598.1 . . . . . . . . . . C 16.01 3.000644 0.54254 . . ENSG00000070413 ENST00000537045;ENST00000263196;ENST00000545799;ENST00000447928 T;T;T 0.18960 2.18;2.18;2.18 5.66 -2.03 0.07365 C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2); 0.399207 0.32081 N 0.006611 T 0.16557 0.0398 L 0.35854 1.095 0.47341 D 0.999393 B;B 0.33826 0.427;0.196 B;B 0.36504 0.226;0.162 T 0.06303 -1.0834 10 0.62326 D 0.03 . 12.3598 0.55197 0.0:0.4555:0.0:0.5445 . 158;202 B7Z3T5;P98153 .;IDD_HUMAN L 161;202;199;202 ENSP00000440062:R161L;ENSP00000263196:R202L;ENSP00000445069:R199L ENSP00000263196:R202L R - 2 0 DGCR2 17430735 0.973000 0.33851 0.958000 0.39756 0.716000 0.41182 0.164000 0.16542 -0.258000 0.09446 -0.253000 0.11424 CGC TCGA-FB-AAPS-01A-12D-A397-08 DGCR2-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316504.1 1 0 0 7 116 0 35 1 7.143354e-01 2 40 0 35 2 0 0 0 0 0 2 1 0.980487 7 114 0 35 2 0 0 0 0 0 2 -10.572680 1 1 0 0 1 1 2 3 2.034923 0 0.100000 2 0.113300 0.990000 0.560000 1.000000 1.000000 0.945300 0.990000 1 0.850000 1.000000 MIOX 55586 broad.mit.edu 37 22 50926164 50926164 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr22:50926164G>A ENST00000216075.6 + 3 244 c.170G>A c.(169-171)aGg>aAg p.R57K MIOX_ENST00000395732.3_Missense_Mutation_p.R57K|MIOX_ENST00000395733.3_Missense_Mutation_p.R57K NM_017584.5 NP_060054.4 Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 13 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) GACTTCGTCAGGAGCAAGGTA 0.657000 0 SO:0001583 missense ENST00000216075.6 0 1 hg19 CCDS14092.1 . . . . . . . . . . G 1.319 -0.599983 0.03744 . . ENSG00000100253 ENST00000395733;ENST00000216075;ENST00000395732;ENST00000451761 . . . 4.38 1.07 0.20283 . 0.221539 0.46145 D 0.000306 T 0.08714 0.0216 N 0.05050 -0.12 0.23023 N 0.998415 B;B;B 0.26708 0.157;0.001;0.0 B;B;B 0.15484 0.013;0.003;0.002 T 0.31138 -0.9954 9 0.02654 T 1 -12.0146 3.2253 0.06730 0.3012:0.0:0.5132:0.1857 . 57;57;57 Q9UGB7-2;A6PVH2;Q9UGB7 .;.;MIOX_HUMAN K 57;57;57;52 . ENSP00000216075:R57K R + 2 0 MIOX 49273030 0.973000 0.33851 0.254000 0.24359 0.539000 0.34962 2.035000 0.41155 0.107000 0.17824 0.491000 0.48974 AGG TCGA-FB-AAPS-01A-12D-A397-08 MIOX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316835.1 0 0 0 4 200 0 37 0 0 0 0 37 2 0 0 0 0 0 2 1 0.886503 4 196 0 36 2 0 0 0 0 0 2 -5.710787 1 1 0 0 1 1 2 3 2.003670 0 0.100000 2 0.106256 0.460000 0.150000 1.000000 0.380000 0.526200 0.460000 0 0.270000 0.840000 MAP4K4 9448 broad.mit.edu 37 2 102486181 102486181 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:102486181C>T ENST00000347699.4 + 20 2318 c.2318C>T c.(2317-2319)aCg>aTg p.T773M MAP4K4_ENST00000498066.1_3'UTR|MAP4K4_ENST00000456652.1_Missense_Mutation_p.T572M|MAP4K4_ENST00000350198.4_Missense_Mutation_p.T692M|MAP4K4_ENST00000425019.1_Missense_Mutation_p.T742M|MAP4K4_ENST00000324219.4_Missense_Mutation_p.T854M|MAP4K4_ENST00000350878.4_Missense_Mutation_p.T749M|MAP4K4_ENST00000302217.5_Missense_Mutation_p.T576M|MAP4K4_ENST00000413150.2_Missense_Mutation_p.T688M NM_001242559.1|NM_145687.3 NP_001229488.1|NP_663720.1 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 41 GAGTCGGGGACGACGGATGAG 0.582000 0 SO:0001583 missense ENST00000347699.4 0 1 hg19 CCDS56130.1 . . . . . . . . . . C 23.3 4.394360 0.83011 . . ENSG00000071054 ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878 T;T;T;T;T;T;T;T;T 0.77489 -1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1 5.19 5.19 0.71726 . 0.000000 0.85682 D 0.000000 D 0.85204 0.5643 L 0.47716 1.5 0.48632 D 0.999681 D;D;P;D;D;D;D;D;D;D 0.89917 0.998;0.996;0.573;0.996;0.998;1.0;1.0;0.998;1.0;0.998 P;P;B;P;P;D;D;P;D;D 0.81914 0.858;0.764;0.051;0.764;0.881;0.98;0.995;0.881;0.956;0.938 D 0.86374 0.1725 10 0.66056 D 0.02 . 18.7238 0.91705 0.0:1.0:0.0:0.0 . 749;769;572;576;691;773;742;692;745;854 B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948 .;.;.;.;.;M4K4_HUMAN;.;.;.;. M 742;854;692;576;688;572;773;704;749 ENSP00000392830:T742M;ENSP00000313644:T854M;ENSP00000281111:T692M;ENSP00000303600:T576M;ENSP00000389752:T688M;ENSP00000387370:T572M;ENSP00000314363:T773M;ENSP00000409720:T704M;ENSP00000343658:T749M ENSP00000303600:T576M T + 2 0 MAP4K4 101852613 1.000000 0.71417 0.957000 0.39632 0.950000 0.60333 4.574000 0.60900 2.420000 0.82092 0.563000 0.77884 ACG TCGA-FB-AAPS-01A-12D-A397-08 MAP4K4-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000339839.1 0 0 0 3 49 0 11 0 9.508411e-01 0 100 0 11 2 0 0 0 0 0 2 1 0.812588 3 49 0 11 2 0 0 0 0 0 2 -7.425266 1 1 0 0 1 1 2 3 2.009522 0 0.100000 2 0.107586 0.990000 0.370000 1.000000 1.000000 0.901463 0.990000 1 0.710000 1.000000 TTN 7273 broad.mit.edu 37 2 179444687 179444687 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:179444687G>A ENST00000591111.1 - 268 62628 c.62404C>T c.(62404-62406)Cgt>Tgt p.R20802C RP11-171I2.2_ENST00000603521.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19875C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13378C|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R22443C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13570C|TTN_ENST00000359218.5_Missense_Mutation_p.R13503C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA Q8WZ42 TITIN_HUMAN titin 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAGCATCACGAGTTTCACCG 0.413000 0 SO:0001583 missense ENST00000591111.1 1 1 hg19 . . . . . . . . . . G 10.79 1.448776 0.26074 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.53857 0.6;0.6;0.6;0.6 5.1 5.1 0.69264 Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.41511 0.1162 N 0.04880 -0.145 0.45354 D 0.998348 D;D;D;D 0.69078 0.99;0.99;0.99;0.997 P;P;P;P 0.47299 0.543;0.543;0.543;0.543 T 0.55648 -0.8108 9 0.87932 D 0 . 18.8515 0.92232 0.0:0.0:1.0:0.0 . 13378;13503;13570;20802 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN C 19875;13378;13570;13503;13376 ENSP00000343764:R19875C;ENSP00000434586:R13378C;ENSP00000340554:R13570C;ENSP00000352154:R13503C ENSP00000340554:R13570C R - 1 0 TTN 179152933 0.997000 0.39634 0.998000 0.56505 0.988000 0.76386 3.412000 0.52679 2.525000 0.85131 0.313000 0.20887 CGT TCGA-FB-AAPS-01A-12D-A397-08 TTN-019 PUTATIVE basic protein_coding protein_coding OTTHUMT00000460310.1 1 0 0 28 337 0 100 0 6.441772e-03 0 2 0 100 2 0 0 0 0 0 2 1 1.000000 28 335 0 99 2 0 0 0 0 0 2 -2.879461 1 1 0 0 1 1 2 3 2.009522 0 0.100000 2 0.107586 0.990000 0.990000 1.000000 1.000000 0.999241 0.990000 1 0.990000 1.000000 APOB 338 broad.mit.edu 37 2 21234547 21234547 + Silent SNP G G T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:21234547G>T ENST00000233242.1 - 26 5320 c.5193C>A c.(5191-5193)gtC>gtA p.V1731V NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTCTTGACTGACCTTGAAGT 0.453000 0 SO:0001819 synonymous_variant ENST00000233242.1 1 1 hg19 CCDS1703.1 TCGA-FB-AAPS-01A-12D-A397-08 APOB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207571.1 1 0 0 42 824 0 175 0 0 0 0 175 2 0 0 0 0 0 2 1 1.000000 41 819 0 175 2 0 0 0 0 0 2 -5.403890 1 1 121412 1 35 1 1 2 3 2.009522 0 0.100000 2 0.107586 0.990000 0.720000 1.000000 1.000000 0.944420 0.990000 1 0.850000 1.000000 SPHKAP 80309 broad.mit.edu 37 2 228882781 228882781 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:228882781G>A ENST00000392056.3 - 7 2835 c.2789C>T c.(2788-2790)gCg>gTg p.A930V SPHKAP_ENST00000344657.5_Missense_Mutation_p.A930V NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing p.A930V(2) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) TAATTCTTCCGCAAAGTCTGT 0.473000 2 Substitution - Missense(2) SO:0001583 missense ENST00000392056.3 0 1 hg19 CCDS46537.1 . . . . . . . . . . G 20.7 4.036317 0.75617 . . ENSG00000153820 ENST00000392056;ENST00000344657 T;T 0.27557 1.68;1.66 6.08 6.08 0.98989 . 0.000000 0.85682 D 0.000000 T 0.60521 0.2275 M 0.79475 2.455 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 T 0.61058 -0.7139 10 0.87932 D 0 . 19.6516 0.95815 0.0:0.0:1.0:0.0 . 930;930 Q2M3C7;Q2M3C7-2 SPKAP_HUMAN;. V 930 ENSP00000375909:A930V;ENSP00000339886:A930V ENSP00000339886:A930V A - 2 0 SPHKAP 228591025 1.000000 0.71417 0.980000 0.43619 0.385000 0.30292 9.096000 0.94182 2.894000 0.99253 0.655000 0.94253 GCG TCGA-FB-AAPS-01A-12D-A397-08 SPHKAP-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000331750.1 0 0 0 6 613 1 129 0 0 0 1 129 2 0 0 0 0 0 2 0 0.016049 6 611 1 129 17 0 0 0 0 0 2 -2.073107 0 1 0 0 1 1 2 3 2.009522 0 0.100000 2 0.107586 0.220000 0.080000 1.000000 0.190000 0.327103 0.220000 0 0.140000 0.400000 LHCGR 3973 broad.mit.edu 37 2 48915275 48915275 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:48915275C>T ENST00000294954.7 - 11 1682 c.1661G>A c.(1660-1662)cGa>cAa p.R554Q LHCGR_ENST00000344775.3_Missense_Mutation_p.R492Q|LHCGR_ENST00000401907.1_Silent_p.S317S|LHCGR_ENST00000405626.1_Missense_Mutation_p.R527Q|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_3'UTR NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TTCTGGGTTTCGAACTGCAAA 0.368000 0 SO:0001583 missense ENST00000294954.7 1 1 hg19 CCDS1842.1 . . . . . . . . . . C 10.09 1.255868 0.22965 . . ENSG00000138039 ENST00000344775;ENST00000294954;ENST00000405626 T;T;T 0.42131 0.98;0.98;0.98 5.68 2.07 0.26955 GPCR, rhodopsin-like superfamily (1); 0.241683 0.44285 N 0.000473 T 0.34861 0.0912 L 0.60904 1.88 0.27994 N 0.93555 B 0.14012 0.009 B 0.10450 0.005 T 0.22977 -1.0201 9 . . . . 8.7189 0.34428 0.0:0.2173:0.0:0.7827 . 554 P22888 LSHR_HUMAN Q 492;554;527 ENSP00000344301:R492Q;ENSP00000294954:R554Q;ENSP00000386033:R527Q . R - 2 0 LHCGR 48768779 0.996000 0.38824 1.000000 0.80357 0.892000 0.51952 0.438000 0.21559 0.444000 0.26612 -1.273000 0.01405 CGA TCGA-FB-AAPS-01A-12D-A397-08 LHCGR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251364.4 1 0 0 19 338 0 87 0 0 0 0 87 2 0 0 0 0 0 2 1 0.999992 19 338 0 87 2 0 0 0 0 0 2 -5.207089 1 1 121410 5 38 1 1 2 3 2.009522 0 0.100000 2 0.107586 0.990000 0.680000 1.000000 1.000000 0.955799 0.990000 1 0.870000 1.000000 SETD2 29072 broad.mit.edu 37 3 47098594 47098594 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr3:47098594G>A ENST00000409792.3 - 15 6722 c.6680C>T c.(6679-6681)cCa>cTa p.P2227L NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 141 Acute lymphoblastic leukemia(5;0.0169) TGCCACATGTGGCACCACTGG 0.552000 N, F, S, Mis clear cell renal carcinoma Rec yes 3 3p21.31 29072 SET domain containing 2 E 0 SO:0001583 missense ENST00000409792.3 0 1 hg19 CCDS2749.2 . . . . . . . . . . G 14.68 2.607273 0.46527 . . ENSG00000181555 ENST00000451092;ENST00000409792 T 0.40476 1.03 5.1 4.16 0.48862 . 0.230823 0.30556 N 0.009361 T 0.21509 0.0518 N 0.08118 0 0.36605 D 0.874906 B;B 0.32245 0.361;0.361 B;B 0.27608 0.081;0.081 T 0.21280 -1.0250 10 0.46703 T 0.11 . 11.2548 0.49048 0.0:0.0:0.6575:0.3425 . 2227;2227 F2Z317;Q9BYW2 .;SETD2_HUMAN L 2227 ENSP00000386759:P2227L ENSP00000386759:P2227L P - 2 0 SETD2 47073598 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 3.205000 0.51090 2.814000 0.96858 0.655000 0.94253 CCA TCGA-FB-AAPS-01A-12D-A397-08 SETD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257479.2 0 0 0 4 178 0 43 0 2.751910e-01 0 38 0 43 2 0 0 0 0 0 2 1 0.888672 3 177 0 42 2 0 0 0 0 0 2 -6.023894 1 0 0 0 1 0 1 1 1.893915 1 0.100000 2 0.057098 0.430000 0.150000 0.870000 0.390000 0.466928 0.430000 0 0.260000 0.660000 SYNPO2 171024 broad.mit.edu 37 4 119978661 119978661 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr4:119978661G>A ENST00000307142.4 + 5 3554 c.3358G>A c.(3358-3360)Gat>Aat p.D1120N SYNPO2_ENST00000448416.2_Silent_p.P121P NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 64 TAAACCAACCGATGGACTAGA 0.488000 0 SO:0001583 missense ENST00000307142.4 1 1 hg19 CCDS34054.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 9.142|9.142 1.014167|1.014167 0.19277|0.19277 .|. .|. ENSG00000172403|ENSG00000172403 ENST00000307142|ENST00000504178 T|. 0.07800|. 3.16|. 5.7|5.7 0.624|0.624 0.17659|0.17659 .|. 0.847324|. 0.09877|. N|. 0.744219|. T|T 0.19446|0.19446 0.0467|0.0467 N|N 0.24115|0.24115 0.695|0.695 0.09310|0.09310 N|N 1|1 B;B|. 0.29253|. 0.154;0.239|. B;B|. 0.14023|. 0.006;0.01|. T|T 0.21381|0.21381 -1.0247|-1.0247 9|5 .|. .|. .|. -2.2565|-2.2565 1.0387|1.0387 0.01554|0.01554 0.1675:0.2459:0.2102:0.3763|0.1675:0.2459:0.2102:0.3763 .|. 1120;1120|. B9EG60;Q9UMS6-2|. .;.|. N|Q 1120|1013 ENSP00000306015:D1120N|. .|. D|R +|+ 1|2 0|0 SYNPO2|SYNPO2 120198109|120198109 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.002000|0.002000 0.02628|0.02628 0.357000|0.357000 0.20199|0.20199 0.051000|0.051000 0.15978|0.15978 0.655000|0.655000 0.94253|0.94253 GAT|CGA TCGA-FB-AAPS-01A-12D-A397-08 SYNPO2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364018.1 1 0 0 22 371 0 83 0 1.943950e-02 0 4 0 83 2 0 0 0 0 0 2 1 0.999999 21 371 0 81 2 0 0 0 0 0 2 -3.317620 1 1 0 0 1 1 2 3 2.020384 0 0.100000 2 0.110232 0.990000 0.750000 1.000000 1.000000 0.973398 0.990000 1 0.940000 1.000000 SCD5 79966 broad.mit.edu 37 4 83719510 83719510 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr4:83719510C>T ENST00000319540.4 - 1 500 c.181G>A c.(181-183)Gtg>Atg p.V61M SCD5_ENST00000273908.4_Missense_Mutation_p.V61M|SCD5_ENST00000282709.4_Missense_Mutation_p.V61M NM_001037582.2 NP_001032671.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) AGGGAGTACACGGCCCCCAAG 0.711000 0 SO:0001583 missense ENST00000319540.4 0 1 hg19 CCDS34024.1 . . . . . . . . . . C 19.21 3.782740 0.70222 . . ENSG00000145284 ENST00000319540;ENST00000273908;ENST00000282709 T 0.49432 0.78 4.77 0.537 0.17144 . 0.566432 0.17256 N 0.180944 T 0.56217 0.1970 L 0.51422 1.61 0.32879 D 0.510265 D;D;D 0.76494 0.999;0.998;0.963 D;D;P 0.65233 0.913;0.933;0.489 T 0.64859 -0.6308 10 0.72032 D 0.01 0.0619 10.0677 0.42315 0.1298:0.4496:0.4206:0.0 . 61;61;61 Q9BSN4;Q86SK9-2;Q86SK9 .;.;SCD5_HUMAN M 61 ENSP00000316329:V61M ENSP00000273908:V61M V - 1 0 SCD5 83938534 0.797000 0.28877 0.996000 0.52242 0.989000 0.77384 0.069000 0.14552 0.158000 0.19367 0.542000 0.68232 GTG TCGA-FB-AAPS-01A-12D-A397-08 SCD5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252635.1 0 0 0 4 226 0 45 0 4.524183e-02 0 15 0 45 2 0 0 0 0 0 2 1 0.889083 4 224 0 45 2 0 0 0 0 0 2 -3.180008 1 1 0 0 1 1 2 3 2.020384 0 0.100000 2 0.110232 0.430000 0.130000 1.000000 0.340000 0.517930 0.430000 0 0.250000 1.000000 FTMT 94033 broad.mit.edu 37 5 121187809 121187809 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr5:121187809G>A ENST00000321339.1 + 1 160 c.151G>A c.(151-153)Gca>Aca p.A51T NM_177478.1 NP_803431.1 Q8N4E7 FTMT_HUMAN ferritin mitochondrial 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) CCCCCTGGCCGCAGCCGCCTC 0.771000 0 SO:0001583 missense ENST00000321339.1 0 1 hg19 CCDS4128.1 . . . . . . . . . . G 10.93 1.491220 0.26774 4.92E-4 0.0 ENSG00000181867 ENST00000321339 T 0.64618 -0.11 3.46 -6.93 0.01638 . . . . . T 0.36963 0.0986 L 0.27053 0.805 0.09310 N 1 B 0.15141 0.012 B 0.06405 0.002 T 0.16276 -1.0408 9 0.20046 T 0.44 . 3.7474 0.08554 0.1643:0.0997:0.1353:0.6006 . 51 Q8N4E7 FTMT_HUMAN T 51 ENSP00000313691:A51T ENSP00000313691:A51T A + 1 0 FTMT 121215708 0.000000 0.05858 0.000000 0.03702 0.030000 0.12068 -0.539000 0.06113 -1.953000 0.01026 0.650000 0.86243 GCA TCGA-FB-AAPS-01A-12D-A397-08 FTMT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250884.1 1 0 0 9 46 0 9 0 0 0 0 9 2 0 0 0 0 0 2 1 0.995547 9 46 0 9 2 0 0 0 0 0 2 -17.609310 1 1 117630 4 30 1 1 2 3 2.012762 0 0.100000 2 0.108470 0.990000 0.990000 1.000000 1.000000 0.999430 0.990000 1 0.990000 1.000000 CHSY3 337876 broad.mit.edu 37 5 129520070 129520070 + Missense_Mutation SNP G G A rs140992502 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr5:129520070G>A ENST00000305031.4 + 3 1593 c.1235G>A c.(1234-1236)cGc>cAc p.R412H CHSY3_ENST00000507545.1_3'UTR NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATGCTCAGCCGCAAAATTTCT 0.478000 0 SO:0001583 missense ENST00000305031.4 0 1 hg19 CCDS34223.1 . . . . . . . . . . G 25.5 4.647807 0.87958 0.0 2.33E-4 ENSG00000198108 ENST00000305031 T 0.15834 2.39 4.5 4.5 0.54988 . 0.000000 0.64402 D 0.000016 T 0.27241 0.0668 M 0.65975 2.015 0.80722 D 1 P 0.48998 0.918 P 0.45998 0.5 T 0.03017 -1.1082 9 . . . -2.8659 18.5119 0.90920 0.0:0.0:1.0:0.0 . 412 Q70JA7 CHSS3_HUMAN H 412 ENSP00000302629:R412H . R + 2 0 CHSY3 129547969 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 9.601000 0.98297 2.779000 0.95612 0.650000 0.86243 CGC TCGA-FB-AAPS-01A-12D-A397-08 CHSY3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000371453.1 0 0 0 5 323 0 68 0 5.515068e-02 0 20 0 68 2 0 0 0 0 0 2 1 0.936998 5 321 0 68 2 0 0 0 0 0 2 -2.304637 0 1 121412 22 45 1 1 2 3 2.012762 0 0.100000 2 0.108470 0.360000 0.130000 1.000000 0.290000 0.451263 0.360000 0 0.220000 0.730000 FAT2 2196 broad.mit.edu 37 5 150932824 150932824 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr5:150932824G>A ENST00000261800.5 - 5 4082 c.4070C>T c.(4069-4071)aCg>aTg p.T1357M NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCCATGACCGTAAAGCTGTA 0.587000 0 SO:0001583 missense ENST00000261800.5 0 1 hg19 CCDS4317.1 . . . . . . . . . . G 20.2 3.942923 0.73672 . . ENSG00000086570 ENST00000261800 T 0.54071 0.59 5.38 4.47 0.54385 Cadherin (3);Cadherin-like (1); 0.325213 0.25762 N 0.028464 T 0.63343 0.2503 M 0.74881 2.28 0.09310 N 0.999997 D 0.63880 0.993 P 0.55055 0.767 T 0.59257 -0.7488 10 0.66056 D 0.02 . 10.3587 0.43980 0.0:0.1453:0.704:0.1507 . 1357 Q9NYQ8 FAT2_HUMAN M 1357 ENSP00000261800:T1357M ENSP00000261800:T1357M T - 2 0 FAT2 150913017 0.967000 0.33354 0.795000 0.32087 0.986000 0.74619 5.130000 0.64745 2.524000 0.85096 0.561000 0.74099 ACG TCGA-FB-AAPS-01A-12D-A397-08 FAT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252434.1 0 0 0 5 331 1 72 0 2.130984e-03 0 4 1 72 2 0 0 0 0 0 2 0 0.011315 5 328 1 70 16 0 0 0 0 0 2 -2.411124 0 1 121412 3 37 1 1 2 3 2.012762 0 0.100000 2 0.108470 0.350000 0.120000 1.000000 0.290000 0.444216 0.350000 0 0.210000 0.710000 SNCB 6620 broad.mit.edu 37 5 176053513 176053513 + Silent SNP A A G rs111621148 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr5:176053513A>G ENST00000310112.3 - 5 418 c.168T>C c.(166-168)gcT>gcC p.A56A MIR4281_ENST00000580852.1_RNA|SNCB_ENST00000506696.1_Silent_p.A56A|SNCB_ENST00000393693.2_Silent_p.A56A|SNCB_ENST00000510387.1_Silent_p.A56A NM_001001502.1 NP_001001502.1 Q16143 SYUB_HUMAN synuclein, beta 10 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGTTTTTTCAGCCACTGGAG 0.607000 0 SO:0001819 synonymous_variant ENST00000310112.3 0 1 hg19 CCDS4406.1 TCGA-FB-AAPS-01A-12D-A397-08 SNCB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253152.2 0 0 0 4 186 0 38 0 0 0 1 0 38 2 0 0 0 0 0 2 1 0.878077 4 176 0 35 2 0 0 0 0 0 2 -3.483445 1 1 0 0 1 1 2 3 2.012762 0 0.100000 2 0.108470 0.510000 0.160000 1.000000 1.000000 0.572164 0.510000 0 0.300000 1.000000 RREB1 6239 broad.mit.edu 37 6 7229268 7229268 + Missense_Mutation SNP G G T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr6:7229268G>T ENST00000349384.6 + 10 1250 c.936G>T c.(934-936)gaG>gaT p.E312D RREB1_ENST00000379938.2_Missense_Mutation_p.E312D|RREB1_ENST00000334984.6_Missense_Mutation_p.E312D|RREB1_ENST00000379933.3_Missense_Mutation_p.E312D NM_001003698.3 NP_001003698.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GCATCAGCGAGCAACACCGTT 0.522000 0 SO:0001583 missense ENST00000349384.6 1 1 hg19 CCDS34336.1 . . . . . . . . . . G 10.21 1.287328 0.23478 . . ENSG00000124782 ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150 T;T;T;T;T 0.60424 0.19;0.19;0.19;0.19;0.19 5.71 2.22 0.28083 . 0.107300 0.39407 N 0.001366 T 0.16685 0.0401 N 0.13140 0.3 0.33872 D 0.635106 B;B;B 0.22604 0.03;0.072;0.058 B;B;B 0.29353 0.101;0.043;0.022 T 0.03933 -1.0991 10 0.46703 T 0.11 -48.8501 0.7439 0.00979 0.3902:0.1627:0.2814:0.1657 . 312;312;312 Q92766-3;Q92766;Q92766-2 .;RREB1_HUMAN;. D 312 ENSP00000369265:E312D;ENSP00000369270:E312D;ENSP00000305560:E312D;ENSP00000335574:E312D;ENSP00000419511:E312D ENSP00000335574:E312D E + 3 2 RREB1 7174267 1.000000 0.71417 1.000000 0.80357 0.963000 0.63663 2.151000 0.42263 0.645000 0.30675 0.462000 0.41574 GAG TCGA-FB-AAPS-01A-12D-A397-08 RREB1-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000352985.1 1 0 0 11 196 0 34 0 4.460308e-02 0 6 0 34 2 0 0 0 0 0 2 1 0.998428 11 195 0 34 2 0 0 0 0 0 2 -13.744850 1 1 0 0 1 1 2 3 2.013121 0 0.100000 2 0.108470 0.990000 0.590000 1.000000 1.000000 0.939806 0.990000 1 0.830000 1.000000 RREB1 6239 broad.mit.edu 37 6 7229269 7229269 + Nonsense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr6:7229269C>T ENST00000349384.6 + 10 1251 c.937C>T c.(937-939)Caa>Taa p.Q313* RREB1_ENST00000379938.2_Nonsense_Mutation_p.Q313*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q313*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q313* NM_001003698.3 NP_001003698.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CATCAGCGAGCAACACCGTTT 0.522000 0 SO:0001587 stop_gained ENST00000349384.6 0 1 hg19 CCDS34336.1 . . . . . . . . . . C 38 6.868490 0.97897 . . ENSG00000124782 ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150 . . . 5.71 4.74 0.60224 . 0.453195 0.18047 N 0.153432 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.56958 D 0.05 -45.1168 3.769 0.08635 0.0:0.664:0.0:0.336 . . . . X 313 . ENSP00000335574:Q313X Q + 1 0 RREB1 7174268 1.000000 0.71417 1.000000 0.80357 0.954000 0.61252 5.726000 0.68515 2.701000 0.92244 0.462000 0.41574 CAA TCGA-FB-AAPS-01A-12D-A397-08 RREB1-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000352985.1 1 0 0 12 196 0 34 0 5.092807e-02 0 6 0 34 2 0 0 0 0 0 2 1 0.999176 12 195 0 34 2 0 0 0 0 0 2 -15.184970 1 1 0 0 1 1 2 3 2.013121 0 0.100000 2 0.108470 0.990000 0.660000 1.000000 1.000000 0.961217 0.990000 1 0.900000 1.000000 KRBA1 84626 broad.mit.edu 37 7 149421894 149421894 + Silent SNP A A G TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr7:149421894A>G ENST00000485033.2 + 8 1080 c.1080A>G c.(1078-1080)ggA>ggG p.G360G KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Silent_p.G360G|KRBA1_ENST00000319551.8_Silent_p.G360G A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CAGCCACTGGAGACACCAGAG 0.642000 0 SO:0001819 synonymous_variant ENST00000485033.2 0 1 hg19 TCGA-FB-AAPS-01A-12D-A397-08 KRBA1-004 PUTATIVE basic protein_coding protein_coding OTTHUMT00000349841.3 0 0 0 3 59 0 11 0 1.786021e-01 0 12 0 11 2 0 0 0 0 0 2 1 0.812562 3 59 0 11 2 0 0 0 0 0 2 -7.435300 1 1 120398 1 23 1 1 2 3 2.014117 0 0.100000 2 0.108911 0.990000 0.320000 1.000000 1.000000 0.869622 0.990000 1 0.630000 1.000000 HECW1 23072 broad.mit.edu 37 7 43484438 43484438 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr7:43484438C>T ENST00000395891.2 + 11 2272 c.1667C>T c.(1666-1668)cCg>cTg p.P556L HECW1_ENST00000453890.1_Missense_Mutation_p.P556L NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 125 CCCGAGACCCCGCGGACACAC 0.692000 0 SO:0001583 missense ENST00000395891.2 1 1 hg19 CCDS5469.2 . . . . . . . . . . C 28.8 4.948443 0.92593 . . ENSG00000002746 ENST00000395891;ENST00000453890;ENST00000265522 T;T 0.53857 0.82;0.6 5.32 5.32 0.75619 . 0.268140 0.43747 D 0.000526 T 0.69797 0.3151 L 0.59436 1.845 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.87578 0.998;0.998 T 0.66288 -0.5961 10 0.33141 T 0.24 . 19.0047 0.92846 0.0:1.0:0.0:0.0 . 556;556 B4DH42;Q76N89 .;HECW1_HUMAN L 556 ENSP00000379228:P556L;ENSP00000407774:P556L ENSP00000265522:P556L P + 2 0 HECW1 43450963 1.000000 0.71417 0.772000 0.31596 0.952000 0.60782 7.680000 0.84062 2.475000 0.83589 0.655000 0.94253 CCG TCGA-FB-AAPS-01A-12D-A397-08 HECW1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250893.2 1 0 0 17 275 0 54 0 0 0 1 0 54 2 0 0 0 0 0 2 1 0.999965 17 271 0 54 2 0 0 0 0 0 2 -2.430770 0 1 120980 2 33 1 1 2 3 2.014117 0 0.100000 2 0.108911 0.990000 0.730000 1.000000 1.000000 0.973234 0.990000 1 0.950000 1.000000 CSMD1 64478 broad.mit.edu 37 8 4494899 4494899 + Silent SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr8:4494899G>A ENST00000520002.1 - 2 822 c.267C>T c.(265-267)taC>taT p.Y89Y CSMD1_ENST00000542608.1_Silent_p.Y89Y|CSMD1_ENST00000602557.1_Silent_p.Y89Y|CSMD1_ENST00000537824.1_Silent_p.Y89Y|CSMD1_ENST00000400186.3_Silent_p.Y89Y|CSMD1_ENST00000602723.1_Silent_p.Y89Y|CSMD1_ENST00000539096.1_Silent_p.Y89Y Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) GCTGTCCATCGTAAACTGATA 0.378000 0 SO:0001819 synonymous_variant ENST00000520002.1 1 1 hg19 TCGA-FB-AAPS-01A-12D-A397-08 CSMD1-001 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000374500.2 1 0 0 23 437 0 105 0 0 0 0 105 2 0 0 0 0 0 2 1 0.999999 23 431 0 105 2 0 0 0 0 0 2 -3.310993 1 1 120802 5 39 1 1 2 3 2.016160 0 0.100000 2 0.109352 0.990000 0.670000 1.000000 1.000000 0.944592 0.990000 1 0.840000 1.000000 MOS 4342 broad.mit.edu 37 8 57025548 57025548 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr8:57025548G>A ENST00000311923.1 - 1 993 c.994C>T c.(994-996)Cgg>Tgg p.R332W NM_005372.1 NP_005363.1 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene homolog 22 Epithelial(17;0.00117)|all cancers(17;0.00879) AAAAGCAGCCGCGCGCTCGGC 0.572000 Esophageal Squamous(124;373 2870 4778) 0 SO:0001583 missense ENST00000311923.1 1 1 hg19 CCDS6164.1 . . . . . . . . . . G 17.84 3.488891 0.64074 . . ENSG00000172680 ENST00000311923 T 0.66995 -0.24 5.8 4.02 0.46733 Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 1.731480 0.03583 N 0.230552 T 0.77651 0.4162 L 0.53729 1.69 0.09310 N 1 P 0.51791 0.948 P 0.57057 0.812 T 0.59118 -0.7514 10 0.87932 D 0 . 11.5859 0.50918 0.0:0.8023:0.13:0.0677 . 332 P00540 MOS_HUMAN W 332 ENSP00000310722:R332W ENSP00000310722:R332W R - 1 2 MOS 57188102 0.000000 0.05858 0.002000 0.10522 0.053000 0.15095 0.330000 0.19715 0.818000 0.34468 -0.311000 0.09066 CGG TCGA-FB-AAPS-01A-12D-A397-08 MOS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378174.1 0 0 0 8 207 0 47 0 0 0 0 47 2 0 0 0 0 0 2 1 0.989568 8 206 0 47 2 0 0 0 0 0 2 -4.010672 1 1 0 0 1 1 2 3 2.020077 0 0.100000 2 0.110232 0.840000 0.380000 1.000000 1.000000 0.806727 0.840000 0 0.570000 1.000000 SGK223 0 broad.mit.edu 37 8 8176529 8176529 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr8:8176529C>T ENST00000520004.1 - 6 3620 c.3356G>A c.(3355-3357)cGc>cAc p.R1119H SGK223_ENST00000330777.4_Missense_Mutation_p.R1119H Q86YV5 SG223_HUMAN GAAGCACACGCGCCGCTCGTA 0.667000 GBM(34;731 755 10259 33573 33867) 0 SO:0001583 missense ENST00000520004.1 1 1 hg19 CCDS43706.1 . . . . . . . . . . C 23.5 4.426873 0.83667 . . ENSG00000182319 ENST00000330777;ENST00000520004 T;T 0.65178 -0.14;-0.14 5.48 4.58 0.56647 Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.053692 0.85682 D 0.000000 T 0.68531 0.3011 L 0.36672 1.1 0.44042 D 0.996772 D 0.89917 1.0 D 0.91635 0.999 T 0.69339 -0.5171 10 0.66056 D 0.02 . 10.7678 0.46303 0.0:0.8505:0.0:0.1495 . 1119 Q86YV5 SG223_HUMAN H 1119 ENSP00000330930:R1119H;ENSP00000428054:R1119H ENSP00000330930:R1119H R - 2 0 AC068353.1 8213939 0.883000 0.30277 1.000000 0.80357 0.979000 0.70002 1.757000 0.38400 2.750000 0.94351 0.467000 0.42956 CGC TCGA-FB-AAPS-01A-12D-A397-08 SGK223-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374864.1 1 0 0 35 663 0 146 1 3.507502e-01 3 21 0 146 2 0 0 0 0 0 2 1 1.000000 35 659 0 144 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.020077 0 0.100000 2 0.110232 0.990000 0.730000 1.000000 1.000000 0.956312 0.990000 1 0.870000 1.000000 RPL12 6136 broad.mit.edu 37 9 130213570 130213570 + Missense_Mutation SNP C C A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 C A C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr9:130213570C>A ENST00000361436.5 - 1 114 c.27G>T c.(25-27)gaG>gaT p.E9D LRSAM1_ENST00000373324.4_5'Flank|LRSAM1_ENST00000300417.6_5'Flank|LRSAM1_ENST00000373322.1_5'Flank|LRSAM1_ENST00000323301.4_5'Flank|SNORA65_ENST00000364432.1_RNA|RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Missense_Mutation_p.E9D NM_000976.3 NP_000967.1 P30050 RL12_HUMAN ribosomal protein L12 4 CGACTTTGATCTCGTTGGGGT 0.642000 0 SO:0001583 missense ENST00000361436.5 0 1 hg19 CCDS6872.1 . . . . . . . . . . C 18.78 3.697336 0.68386 . . ENSG00000197958 ENST00000361436;ENST00000536368 . . . 5.58 1.42 0.22433 Ribosomal protein L11, N-terminal (2); 0.000000 0.85682 U 0.000000 T 0.61515 0.2353 M 0.80508 2.5 0.45318 D 0.998318 B;B 0.17038 0.02;0.002 B;B 0.25987 0.065;0.006 T 0.58364 -0.7649 9 0.51188 T 0.08 0.0134 8.795 0.34874 0.0:0.652:0.0:0.348 . 9;9 P30050-2;P30050 .;RL12_HUMAN D 9 . ENSP00000354739:E9D E - 3 2 RPL12 129253391 0.929000 0.31497 0.998000 0.56505 0.998000 0.95712 0.418000 0.21230 0.247000 0.21414 0.561000 0.74099 GAG TCGA-FB-AAPS-01A-12D-A397-08 RPL12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054189.1 0 0 0 6 298 0 78 1 9.999974e-01 12 2196 0 78 2 0 0 0 0 0 2 1 0.965028 6 297 0 77 2 0 0 0 0 0 2 -6.607434 1 1 0 0 1 0 0 0 1.896116 1 0.100000 2 0.044586 0.370000 0.150000 0.690000 0.350000 0.397356 0.370000 0 0.250000 0.530000 CERCAM 51148 broad.mit.edu 37 9 131186737 131186737 + Missense_Mutation SNP C C T rs143495365 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 C T C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr9:131186737C>T ENST00000372838.4 + 5 1008 c.610C>T c.(610-612)Cgc>Tgc p.R204C CERCAM_ENST00000372842.1_Missense_Mutation_p.R126C NM_016174.4 NP_057258.3 Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 20 GAACCGCCAGCGCCGGGGCTG 0.647000 0 SO:0001583 missense ENST00000372838.4 1 1 hg19 CCDS6901.2 . . . . . . . . . . C 34 5.312852 0.95655 2.27E-4 0.0 ENSG00000167123 ENST00000372842;ENST00000420512;ENST00000372838;ENST00000413863 T;T;T 0.20738 2.05;2.05;2.05 4.9 4.9 0.64082 . 0.119685 0.56097 D 0.000026 T 0.44540 0.1298 M 0.84326 2.69 0.80722 D 1 D 0.71674 0.998 P 0.55455 0.776 T 0.52586 -0.8556 10 0.87932 D 0 -2.5648 16.8166 0.85735 0.0:1.0:0.0:0.0 . 204 Q5T4B2 GT253_HUMAN C 126;126;204;157 ENSP00000361933:R126C;ENSP00000416676:R126C;ENSP00000361929:R204C ENSP00000361929:R204C R + 1 0 CERCAM 130226558 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 3.680000 0.54641 2.543000 0.85770 0.467000 0.42956 CGC TCGA-FB-AAPS-01A-12D-A397-08 CERCAM-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054435.2 0 0 0 12 293 0 68 0 9.999124e-01 1 425 0 68 2 0 0 0 0 0 2 1 0.998795 12 275 0 64 2 0 0 0 0 0 2 -3.284561 1 1 121412 1 30 1 0 0 0 1.896116 1 0.100000 2 0.044586 0.650000 0.380000 0.830000 0.700000 0.645453 0.650000 0 0.510000 0.780000 TMEM215 401498 broad.mit.edu 37 9 32784266 32784266 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr9:32784266G>A ENST00000342743.5 + 2 450 c.85G>A c.(85-87)Gtc>Atc p.V29I NM_212558.2 NP_997723.2 Q68D42 TM215_HUMAN transmembrane protein 215 12 CATGTTCACCGTCTCTGGGAT 0.582000 0 SO:0001583 missense ENST00000342743.5 1 1 hg19 CCDS6530.1 . . . . . . . . . . G 13.79 2.343493 0.41498 . . ENSG00000188133 ENST00000342743 . . . 5.31 4.39 0.52855 . 0.000000 0.64402 D 0.000011 T 0.40171 0.1106 L 0.27053 0.805 0.42899 D 0.994226 P 0.49635 0.926 B 0.40038 0.317 T 0.44847 -0.9301 9 0.87932 D 0 -24.8349 13.4943 0.61416 0.0:0.1582:0.8418:0.0 . 29 Q68D42 TM215_HUMAN I 29 . ENSP00000345468:V29I V + 1 0 TMEM215 32774266 1.000000 0.71417 0.869000 0.34112 0.936000 0.57629 7.480000 0.81109 1.185000 0.42971 0.462000 0.41574 GTC TCGA-FB-AAPS-01A-12D-A397-08 TMEM215-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251701.1 1 0 0 13 261 0 60 0 2.746822e-03 0 2 0 60 2 0 0 0 0 0 2 1 0.999547 13 259 0 60 2 0 0 0 0 0 2 -4.719854 1 1 0 0 1 0 0 0 1.959414 0 0.100000 2 0.075026 0.900000 0.510000 1.000000 1.000000 0.867744 0.900000 1 0.690000 1.000000 ACSL4 2182 broad.mit.edu 37 X 108924283 108924283 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chrX:108924283C>T ENST00000469796.2 - 6 1118 c.722G>A c.(721-723)gGa>gAa p.G241E ACSL4_ENST00000348502.6_Missense_Mutation_p.G200E|ACSL4_ENST00000340800.2_Missense_Mutation_p.G241E O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 22 Icosapent(DB00159)|Rosiglitazone(DB00412) AATCTCAAATCCTTCAGGGTA 0.343000 Pancreas(188;358 2127 38547 41466 45492) 0 SO:0001583 missense ENST00000469796.2 1 1 hg19 CCDS14548.1 . . . . . . . . . . C 20.8 4.050788 0.75960 . . ENSG00000068366 ENST00000348502;ENST00000469796;ENST00000340800 T;T;T 0.38560 1.13;1.13;1.13 6.04 6.04 0.98038 AMP-dependent synthetase/ligase (1); 0.257801 0.44097 D 0.000485 T 0.57666 0.2069 M 0.78223 2.4 0.58432 D 0.999997 P 0.35575 0.51 P 0.47705 0.555 T 0.61013 -0.7148 10 0.72032 D 0.01 -15.5815 13.0039 0.58692 0.0:0.9159:0.0:0.0841 . 241 O60488 ACSL4_HUMAN E 200;241;241 ENSP00000262835:G200E;ENSP00000419171:G241E;ENSP00000339787:G241E ENSP00000339787:G241E G - 2 0 ACSL4 108810939 0.998000 0.40836 1.000000 0.80357 0.665000 0.39181 3.776000 0.55356 2.555000 0.86185 0.513000 0.50165 GGA TCGA-FB-AAPS-01A-12D-A397-08 ACSL4-003 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000358155.2 1 0 1 53 457 0 103 0 5.447140e-01 0 17 0 103 2 0 0 0 0 0 2 1 1.000000 52 455 0 103 2 0 0 0 0 0 2 -17.487650 1 1 0 0 1 0 1 1 0.100000 2 0.100000 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 CNGA2 1260 broad.mit.edu 37 X 150912423 150912423 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chrX:150912423G>A ENST00000329903.4 + 6 1481 c.1448G>A c.(1447-1449)cGc>cAc p.R483H NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 49 Acute lymphoblastic leukemia(192;6.56e-05) tacatttgccgcaaaggggac 0.527000 0 SO:0001583 missense ENST00000329903.4 0 1 hg19 CCDS14701.1 . . . . . . . . . . G 16.74 3.205767 0.58234 0.001304 0.0 ENSG00000183862 ENST00000329903 D 0.93247 -3.19 5.27 4.41 0.53225 Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3); 0.050712 0.85682 N 0.000000 D 0.95896 0.8664 M 0.74389 2.26 0.53688 D 0.999978 D 0.89917 1.0 D 0.91635 0.999 D 0.95498 0.8575 10 0.72032 D 0.01 . 10.9848 0.47516 0.0938:0.0:0.9062:0.0 . 483 Q16280 CNGA2_HUMAN H 483 ENSP00000328478:R483H ENSP00000328478:R483H R + 2 0 CNGA2 150663079 1.000000 0.71417 1.000000 0.80357 0.751000 0.42716 7.629000 0.83207 1.005000 0.39183 -0.260000 0.10688 CGC TCGA-FB-AAPS-01A-12D-A397-08 CNGA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060888.1 0 0 0 7 519 0 85 0 0 0 0 85 2 0 0 0 0 0 2 1 0.979362 7 509 0 85 2 0 0 0 0 0 2 -2.310244 0 1 121410 23 47 1 0 1 1 0.100000 2 0.100000 0.270000 0.120000 0.510000 0.260000 0.297841 0.270000 0 0.190000 0.400000 CXorf21 80231 broad.mit.edu 37 X 30577641 30577641 + Missense_Mutation SNP A A T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chrX:30577641A>T ENST00000378962.3 - 3 1154 c.832T>A c.(832-834)Ttg>Atg p.L278M NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 20 GTTGACATCAATTGCAATAGG 0.398000 0 SO:0001583 missense ENST00000378962.3 1 1 hg19 CCDS14224.1 . . . . . . . . . . A 9.213 1.031426 0.19590 . . ENSG00000120280 ENST00000378962 . . . 5.11 1.36 0.22044 . 0.417714 0.22387 N 0.060739 T 0.36963 0.0986 L 0.51422 1.61 0.25525 N 0.987333 P 0.50617 0.937 P 0.53809 0.735 T 0.14392 -1.0474 9 0.45353 T 0.12 -3.0314 3.1843 0.06596 0.4426:0.0:0.238:0.3193 . 278 Q9HAI6 CX021_HUMAN M 278 . ENSP00000368245:L278M L - 1 2 CXorf21 30487562 0.999000 0.42202 0.692000 0.30179 0.104000 0.19210 0.733000 0.26087 0.251000 0.21505 -0.509000 0.04479 TTG TCGA-FB-AAPS-01A-12D-A397-08 CXorf21-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056164.1 1 0 0 15 310 0 62 0 4.434276e-02 0 7 0 62 2 0 0 0 0 0 2 1 0.999878 15 309 0 61 2 0 0 0 0 0 2 -17.092950 1 1 0 0 1 0 1 1 0.100000 2 0.100000 0.920000 0.540000 1.000000 1.000000 0.880822 0.920000 1 0.710000 1.000000