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 chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error DOK7 285489 genome.wustl.edu 36 4 3471855 3471855 + Silent SNP C T T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 4 3471855 3471855 C T SNP DOK7 ENST00000389653 human ensembl 54_36p +1 known silent c.1620 p.P540 0.988 NULL superfamily_SSF50729,HMMSmart_PH - no_errors CRMP1 1400 genome.wustl.edu 36 4 5894023 5894023 + Missense_Mutation SNP T T G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 4 5894023 5894023 T G SNP CRMP1 NM_001014809 human genbank 54_36p -1 reviewed missense c.1066 p.I356L 1.000 superfamily_Metalo_hydrolase,HMMPfam_Amidohydro_1,superfamily_SSF51556 superfamily_Metalo_hydrolase,HMMPfam_Amidohydro_1,superfamily_SSF51556 - no_errors TP53 7157 genome.wustl.edu 36 17 7520316 7520316 + Splice_Site SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 17 7520316 7520316 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.97-1 e3-1 0.209 - - - no_errors ATP5C1 509 genome.wustl.edu 36 10 7870186 7870186 + Missense_Mutation SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 10 7870186 7870186 C T SNP ATP5C1 NM_001001973 human genbank 54_36p +1 reviewed missense c.10 p.R4C 0.993 NULL HMMPfam_ATP-synt,superfamily_ATP synthase (F1-ATPase) gamma subunit,PatternScan_ATPASE_GAMMA - no_errors ALOX15B 247 genome.wustl.edu 36 17 7890716 7890716 + Silent SNP G G A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 17 7890716 7890716 G A SNP ALOX15B NM_001141 human genbank 54_36p +1 reviewed silent c.1206 p.L402 0.982 superfamily_Lipoxigenase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_2 HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),superfamily_Lipoxigenase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_1,PatternScan_LIPOXYGENASE_2,PatternScan_IG_MHC - no_errors ANKRD12 23253 genome.wustl.edu 36 18 9246100 9246100 + Missense_Mutation SNP A A T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 18 9246100 9246100 A T SNP ANKRD12 NM_015208 human genbank 54_36p +1 validated missense c.2835 p.K945N 0.994 superfamily_Ankyrin repeat superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors ATG4D 84971 genome.wustl.edu 36 19 10523596 10523596 + Missense_Mutation SNP C C G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 19 10523596 10523596 C G SNP ATG4D NM_032885 human genbank 54_36p +1 reviewed missense c.990 p.C330W 0.999 HMMPfam_Peptidase_C54 HMMPfam_Peptidase_C54 - no_errors BRD4 23476 genome.wustl.edu 36 19 15210880 15210880 + Missense_Mutation SNP C C G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 19 15210880 15210880 C G SNP BRD4 NM_058243 human genbank 54_36p -1 reviewed missense c.3772 p.E1258Q 1.000 NULL superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors SATB1 6304 genome.wustl.edu 36 3 18365876 18365876 + Silent SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 3 18365876 18365876 C T SNP SATB1 NM_002971 human genbank 54_36p -1 validated silent c.2082 p.Q694 1.000 HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox HMMPfam_CUT,HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox - no_errors SATB1 6304 genome.wustl.edu 36 3 18365998 18365998 + Missense_Mutation SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 3 18365998 18365998 C T SNP SATB1 NM_002971 human genbank 54_36p -1 validated missense c.1960 p.E654K 1.000 HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_CUT,superfamily_Homeodomain-like - no_errors TAS1R2 80834 genome.wustl.edu 36 1 19039228 19039228 + Missense_Mutation SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 1 19039228 19039228 C T SNP TAS1R2 NM_152232 human genbank 54_36p -1 validated missense c.1972 p.A658T 0.973 HMMPfam_7tm_3 PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_SSF53822,HMMPfam_ANF_receptor,HMMPfam_NCD3G,superfamily_SSF57586,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3 - no_errors KCNH8 131096 genome.wustl.edu 36 3 19359198 19359198 + Missense_Mutation SNP G G C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 3 19359198 19359198 G C SNP KCNH8 NM_144633 human genbank 54_36p +1 reviewed missense c.558 p.L186F 1.000 NULL PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_SSF55785,HMMPfam_PAS,HMMSmart_PAC,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding - no_errors IGLV4-60 0 genome.wustl.edu 36 22 20846859 20846859 + Missense_Mutation SNP C C G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 22 20846859 20846859 C G SNP IGLV4-60 ENST00000390284 human ensembl 54_36p +1 known missense c.147 p.H49Q 0.002 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region SNORD115-21 0 genome.wustl.edu 36 15 23004393 23004393 + RNA SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 15 23004393 23004393 C T SNP SNORD115-21 NR_003313 human genbank 54_36p +1 provisional rna NULL NULL 0.106 - - - no_errors GPX6 257202 genome.wustl.edu 36 6 28580093 28580093 + Silent SNP G G A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 6 28580093 28580093 G A SNP GPX6 NM_182701 human genbank 54_36p -1 reviewed silent c.621 p.V207 0.884 superfamily_Thioredoxin-like superfamily_Thioredoxin-like,HMMPfam_GSHPx,PatternScan_GLUTATHIONE_PEROXID_2 - pseudogene TMEM132E 124842 genome.wustl.edu 36 17 29988770 29988770 + Silent SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 17 29988770 29988770 C T SNP TMEM132E NM_207313 human genbank 54_36p +1 provisional silent c.2361 p.F787 0.999 NULL NULL - no_errors HCK 3055 genome.wustl.edu 36 20 30152901 30152901 + Missense_Mutation SNP A A T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 20 30152901 30152901 A T SNP HCK NM_002110 human genbank 54_36p +1 reviewed missense c.1499 p.E500V 1.000 superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220 superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors PIGO 84720 genome.wustl.edu 36 9 35082719 35082719 + Nonsense_Mutation SNP G G A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 9 35082719 35082719 G A SNP PIGO NM_032634 human genbank 54_36p -1 reviewed nonsense c.1165 p.Q389* 0.953 NULL superfamily_Alkaline phosphatase-like,HMMPfam_Phosphodiest - no_errors HLCS 3141 genome.wustl.edu 36 21 37230993 37230993 + Missense_Mutation SNP C C G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 21 37230993 37230993 C G SNP HLCS NM_000411 human genbank 54_36p -1 validated missense c.622 p.D208H 0.793 NULL superfamily_SSF55681,HMMPfam_BPL_LipA_LipB,HMMPfam_BPL_C - no_errors ADAM18 8749 genome.wustl.edu 36 8 39625029 39625029 + Missense_Mutation SNP T T A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 8 39625029 39625029 T A SNP ADAM18 NM_014237 human genbank 54_36p +1 reviewed missense c.1056 p.S352R 0.994 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2" - no_errors TGM7 116179 genome.wustl.edu 36 15 41359269 41359269 + Silent SNP C C A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 15 41359269 41359269 C A SNP TGM7 NM_052955 human genbank 54_36p -1 validated silent c.1524 p.L508 0.030 superfamily_Transglut_C superfamily_Ig_E-set,HMMPfam_Transglut_N,superfamily_SSF54001,HMMSmart_TGc,HMMPfam_Transglut_core,PatternScan_TRANSGLUTAMINASES,superfamily_Transglut_C,HMMPfam_Transglut_C - no_errors TTLL12 23170 genome.wustl.edu 36 22 41900224 41900224 + Silent SNP G G A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 22 41900224 41900224 G A SNP TTLL12 NM_015140 human genbank 54_36p -1 provisional silent c.1164 p.P388 0.968 HMMPfam_TTL HMMPfam_TTL - no_errors LRRC59 55379 genome.wustl.edu 36 17 45815423 45815423 + Missense_Mutation SNP G G C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 17 45815423 45815423 G C SNP LRRC59 NM_018509 human genbank 54_36p -1 provisional missense c.849 p.I283M 1.000 NULL superfamily_SSF52058,HMMPfam_LRR_1 - no_errors LOC220429 220429 genome.wustl.edu 36 13 49362828 49362828 + RNA SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 13 49362828 49362828 C T SNP LOC220429 NR_003268 human genbank 54_36p +1 validated rna NULL NULL 0.905 - - - pseudogene VPRBP 9730 genome.wustl.edu 36 3 51433142 51433142 + Silent SNP G G A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 3 51433142 51433142 G A SNP VPRBP ENST00000273612 human ensembl 54_36p -1 known silent c.2334 p.I778 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMSmart_SM00667,HMMPfam_LisH,superfamily_WD40 repeat-like - no_errors ESPL1 9700 genome.wustl.edu 36 12 51962410 51962410 + Silent SNP G G A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 12 51962410 51962410 G A SNP ESPL1 NM_012291 human genbank 54_36p +1 validated silent c.2715 p.L905 1.000 NULL HMMPfam_Peptidase_C50 - no_errors ESPL1 9700 genome.wustl.edu 36 12 51968054 51968054 + Missense_Mutation SNP A A G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 12 51968054 51968054 A G SNP ESPL1 NM_012291 human genbank 54_36p +1 validated missense c.4208 p.D1403G 0.984 NULL HMMPfam_Peptidase_C50 - no_errors OR4D1 26689 genome.wustl.edu 36 17 53588321 53588321 + Missense_Mutation SNP G G A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 17 53588321 53588321 G A SNP OR4D1 NM_012374 human genbank 54_36p +1 provisional missense c.808 p.A270T 0.984 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ZNF701 55762 genome.wustl.edu 36 19 57778147 57778147 + Silent SNP T T C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 19 57778147 57778147 T C SNP ZNF701 NM_018260 human genbank 54_36p +1 provisional silent c.1023 p.L341 0.000 superfamily_Multiheme cytochromes,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,superfamily_Multiheme cytochromes,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors DNASE1L3 1776 genome.wustl.edu 36 3 58158644 58158644 + Silent SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 3 58158644 58158644 C T SNP DNASE1L3 NM_004944 human genbank 54_36p -1 reviewed silent c.648 p.L216 1.000 HMMSmart_SM00476,HMMPfam_Exo_endo_phos,superfamily_DNase I-like HMMSmart_SM00476,HMMPfam_Exo_endo_phos,superfamily_DNase I-like,PatternScan_DNASE_I_1,PatternScan_DNASE_I_2 - no_errors MARCH10 162333 genome.wustl.edu 36 17 58190992 58190992 + Silent SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 17 58190992 58190992 C T SNP MARCH10 NM_001100875 human genbank 54_36p -1 validated silent c.318 p.Q106 1.000 NULL superfamily_RING/U-box,HMMSmart_SM00744,HMMPfam_zf-C3HC4 - no_errors ERN1 2081 genome.wustl.edu 36 17 59529654 59529654 + Missense_Mutation SNP G G C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 17 59529654 59529654 G C SNP ERN1 ENST00000225768 human ensembl 54_36p -1 known missense c.1 p.P1A 0.000 NULL superfamily_Quinoprotein alcohol dehydrogenase-like,HMMSmart_SM00564,HMMPfam_PQQ,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Ribonuc_2-5A,HMMSmart_SM00580 - no_start_codon TDRD3 81550 genome.wustl.edu 36 13 59939408 59939408 + Missense_Mutation SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 13 59939408 59939408 C T SNP TDRD3 NM_030794 human genbank 54_36p +1 validated missense c.110 p.S37L 0.985 NULL superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333,HMMPfam_TUDOR - no_errors SIX4 51804 genome.wustl.edu 36 14 60259850 60259850 + Missense_Mutation SNP C C G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 14 60259850 60259850 C G SNP SIX4 NM_017420 human genbank 54_36p -1 validated missense c.696 p.E232D 1.000 superfamily_Homeodomain_like,HMMSmart_HOX superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors LPHN3 23284 genome.wustl.edu 36 4 62281810 62281810 + Missense_Mutation SNP A A T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 4 62281810 62281810 A T SNP LPHN3 NM_015236 human genbank 54_36p +1 reviewed missense c.1138 p.N380Y 1.000 HMMPfam_OLF,HMMSmart_OLF HMMPfam_Gal_Lectin,HMMPfam_OLF,HMMSmart_OLF,HMMSmart_HormR,HMMPfam_HRM,superfamily_SSF81321,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2,HMMPfam_Latrophilin - no_errors CATSPER1 117144 genome.wustl.edu 36 11 65550129 65550129 + Missense_Mutation SNP G G T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 11 65550129 65550129 G T SNP CATSPER1 NM_053054 human genbank 54_36p -1 reviewed missense c.298 p.P100T 0.001 NULL superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans - no_errors CYP7B1 9420 genome.wustl.edu 36 8 65679876 65679876 + Missense_Mutation SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 8 65679876 65679876 C T SNP CYP7B1 NM_004820 human genbank 54_36p -1 reviewed missense c.1150 p.D384N 0.002 superfamily_Cytochrome P450,HMMPfam_p450 superfamily_Cytochrome P450,HMMPfam_p450 - no_errors NETO1 81832 genome.wustl.edu 36 18 68568767 68568767 + Missense_Mutation SNP A A C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 18 68568767 68568767 A C SNP NETO1 NM_138966 human genbank 54_36p -1 reviewed missense c.1051 p.C351G 1.000 NULL superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_LDL receptor-like module,HMMSmart_SM00192,PatternScan_LDLRA_1 - no_errors CTH 1491 genome.wustl.edu 36 1 70672192 70672192 + Missense_Mutation SNP A A G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 1 70672192 70672192 A G SNP CTH NM_001902 human genbank 54_36p +1 reviewed missense c.971 p.H324R 1.000 superfamily_PLP-dependent transferases,HMMPfam_Cys_Met_Meta_PP superfamily_PLP-dependent transferases,HMMPfam_Cys_Met_Meta_PP,PatternScan_CYS_MET_METAB_PP - no_errors EXOC7 23265 genome.wustl.edu 36 17 71591757 71591757 + Missense_Mutation SNP T T A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 17 71591757 71591757 T A SNP EXOC7 NM_001013839 human genbank 54_36p -1 validated missense c.1877 p.D626V 1.000 HMMPfam_Exo70 HMMPfam_Exo70 - no_errors DYSF 8291 genome.wustl.edu 36 2 71596354 71596354 + Missense_Mutation SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 2 71596354 71596354 C T SNP DYSF NM_003494 human genbank 54_36p +1 reviewed missense c.757 p.R253W 0.994 superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerA,HMMPfam_FerB,HMMSmart_SM00693,HMMSmart_SM00694 - no_errors MAMDC2 256691 genome.wustl.edu 36 9 71975236 71975236 + Missense_Mutation SNP G G C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 9 71975236 71975236 G C SNP MAMDC2 NM_153267 human genbank 54_36p +1 validated missense c.1520 p.G507A 1.000 HMMSmart_SM00137 HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1 - no_errors XIST 7503 genome.wustl.edu 36 X 72987578 72987578 + RNA SNP G G T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 X 72987578 72987578 G T SNP XIST NR_001564 human genbank 54_36p -1 reviewed rna NULL NULL 0.000 - - - no_errors C15orf39 56905 genome.wustl.edu 36 15 73286172 73286172 + Missense_Mutation SNP G G C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 15 73286172 73286172 G C SNP C15orf39 NM_015492 human genbank 54_36p +1 validated missense c.730 p.E244Q 0.043 NULL NULL - no_errors C15orf39 56905 genome.wustl.edu 36 15 73286756 73286756 + Missense_Mutation SNP G G C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 15 73286756 73286756 G C SNP C15orf39 NM_015492 human genbank 54_36p +1 validated missense c.1314 p.E438D 0.519 NULL NULL - no_errors COX18 285521 genome.wustl.edu 36 4 74149454 74149454 + Missense_Mutation SNP T T C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 4 74149454 74149454 T C SNP COX18 NM_173827 human genbank 54_36p -1 validated missense c.625 p.T209A 0.631 HMMPfam_60KD_IMP HMMPfam_60KD_IMP - no_errors USP36 57602 genome.wustl.edu 36 17 74328687 74328687 + Missense_Mutation SNP T T C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 17 74328687 74328687 T C SNP USP36 NM_025090 human genbank 54_36p -1 validated missense c.809 p.D270G 1.000 superfamily_SSF54001,HMMPfam_UCH superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,PatternScan_IG_MHC - no_errors CARD14 79092 genome.wustl.edu 36 17 75779195 75779195 + Missense_Mutation SNP C C A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 17 75779195 75779195 C A SNP CARD14 NM_024110 human genbank 54_36p +1 reviewed missense c.991 p.L331M 0.040 NULL superfamily_DEATH domain,HMMPfam_CARD,superfamily_PDZ domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors LOC440015 0 genome.wustl.edu 36 3 75801736 75801736 + RNA SNP C C A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 3 75801736 75801736 C A SNP LOC440015 XR_015234 human genbank 54_36p +1 model rna NULL NULL 0.311 - - - no_errors MSH4 4438 genome.wustl.edu 36 1 76060821 76060821 + Missense_Mutation SNP C C G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 1 76060821 76060821 C G SNP MSH4 NM_002440 human genbank 54_36p +1 validated missense c.1129 p.Q377E 1.000 HMMPfam_MutS_III,superfamily_DNA_repair_MutS_domIII,HMMSmart_MUTSd superfamily_DNA_mismatch_repair_MutS_connt,HMMPfam_MutS_II,HMMPfam_MutS_III,superfamily_DNA_repair_MutS_domIII,HMMSmart_MUTSd,HMMPfam_MutS_IV,HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2 - no_errors KIAA1024 23251 genome.wustl.edu 36 15 77535716 77535716 + Missense_Mutation SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 15 77535716 77535716 C T SNP KIAA1024 NM_015206 human genbank 54_36p +1 validated missense c.172 p.P58S 1.000 NULL HMMPfam_UPF0258 - no_errors LOC441089 441089 genome.wustl.edu 36 5 79682728 79682728 + RNA SNP G G A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 5 79682728 79682728 G A SNP LOC441089 NR_003665 human genbank 54_36p -1 provisional rna NULL NULL 1.000 - - - pseudogene SEMA4B 10509 genome.wustl.edu 36 15 88564123 88564123 + Missense_Mutation SNP A A C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 15 88564123 88564123 A C SNP SEMA4B NM_020210 human genbank 54_36p +1 validated missense c.479 p.Y160S 1.000 superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630 superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat - no_errors STEAP1 26872 genome.wustl.edu 36 7 89628092 89628092 + Missense_Mutation SNP C C A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 7 89628092 89628092 C A SNP STEAP1 NM_012449 human genbank 54_36p +1 reviewed missense c.122 p.P41H 0.490 NULL HMMPfam_Ferric_reduct - no_errors GPC5 2262 genome.wustl.edu 36 13 91206577 91206577 + Nonsense_Mutation SNP C C G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 13 91206577 91206577 C G SNP GPC5 NM_004466 human genbank 54_36p +1 reviewed nonsense c.1182 p.Y394* 0.957 HMMPfam_Glypican HMMPfam_Glypican,PatternScan_GLYPICAN - no_errors BRDT 676 genome.wustl.edu 36 1 92217734 92217734 + Missense_Mutation SNP T T G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 1 92217734 92217734 T G SNP BRDT NM_001726 human genbank 54_36p +1 validated missense c.1119 p.F373L 1.000 superfamily_Bromodomain,HMMSmart_SM00297 superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors LOC440311 440311 genome.wustl.edu 36 15 93200445 93200445 + RNA SNP C C A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 15 93200445 93200445 C A SNP LOC440311 XR_016779 human genbank 54_36p +1 model rna NULL NULL 0.749 - - - pseudogene MTF2 22823 genome.wustl.edu 36 1 93358714 93358714 + Missense_Mutation SNP G G C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 1 93358714 93358714 G C SNP MTF2 NM_007358 human genbank 54_36p +1 validated missense c.818 p.C273S 1.000 NULL HMMSmart_SM00333,superfamily_Tudor/PWWP/MBT,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1 - no_errors BTK 695 genome.wustl.edu 36 X 100504234 100504234 + Missense_Mutation SNP C C G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 X 100504234 100504234 C G SNP BTK NM_000061 human genbank 54_36p -1 reviewed missense c.491 p.G164A 1.000 superfamily_SSF50729,HMMSmart_BTK,HMMPfam_BTK superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_BTK,HMMPfam_BTK,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors VPS13B 157680 genome.wustl.edu 36 8 100860252 100860252 + Silent SNP A A G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 8 100860252 100860252 A G SNP VPS13B NM_017890 human genbank 54_36p +1 reviewed silent c.7671 p.L2557 0.918 NULL PatternScan_ZINC_PROTEASE - no_errors MAN2A1 4124 genome.wustl.edu 36 5 109148418 109148418 + Missense_Mutation SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 5 109148418 109148418 C T SNP MAN2A1 NM_002372 human genbank 54_36p +1 reviewed missense c.1652 p.S551L 0.090 superfamily_SSF88688,HMMPfam_Alpha-mann_mid superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38,superfamily_SSF88688,HMMPfam_Alpha-mann_mid,superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C - no_errors PKHD1L1 93035 genome.wustl.edu 36 8 110541034 110541034 + Missense_Mutation SNP G G C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 8 110541034 110541034 G C SNP PKHD1L1 NM_177531 human genbank 54_36p +1 validated missense c.7039 p.A2347P 0.944 NULL superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG,HMMSmart_SM00758,superfamily_Anthrax protective antigen,HMMSmart_SM00710,superfamily_Cupredoxins,HMMPfam_G8,superfamily_Pectin lyase-like - no_errors WDR31 114987 genome.wustl.edu 36 9 115122557 115122557 + Silent SNP A A C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 9 115122557 115122557 A C SNP WDR31 NM_001012361 human genbank 54_36p -1 reviewed silent c.681 p.P227 0.009 superfamily_WD40 repeat-like PatternScan_TONB_DEPENDENT_REC_1,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors NOTCH2 4853 genome.wustl.edu 36 1 120413529 120413529 + Silent SNP G G A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 1 120413529 120413529 G A SNP NOTCH2 NM_024408 human genbank 54_36p -1 reviewed silent c.15 p.R5 0.985 NULL superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_NL,HMMPfam_Notch,superfamily_Notch_region,HMMPfam_NOD,HMMPfam_NODP,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors OR10G9 219870 genome.wustl.edu 36 11 123399064 123399064 + Silent SNP G G A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 11 123399064 123399064 G A SNP OR10G9 NM_001001953 human genbank 54_36p +1 provisional silent c.135 p.L45 0.005 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors DAB2IP 153090 genome.wustl.edu 36 9 123568730 123568730 + Missense_Mutation SNP C C G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 9 123568730 123568730 C G SNP DAB2IP NM_032552 human genbank 54_36p +1 validated missense c.1513 p.P505A 1.000 HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1 HMMSmart_SM00233,superfamily_PH domain-like,HMMPfam_PH,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1 - no_errors PTGS1 5742 genome.wustl.edu 36 9 124188623 124188623 + Missense_Mutation SNP G G C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 9 124188623 124188623 G C SNP PTGS1 NM_000962 human genbank 54_36p +1 reviewed missense c.1087 p.E363Q 0.631 superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase superfamily_EGF/Laminin,HMMPfam_EGF,superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase - no_errors GCC1 79571 genome.wustl.edu 36 7 127009794 127009794 + Missense_Mutation SNP G G C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 7 127009794 127009794 G C SNP GCC1 NM_024523 human genbank 54_36p -1 reviewed missense c.1838 p.S613C 0.519 NULL HMMPfam_GRIP,HMMSmart_SM00755 - no_errors LOC653269 653269 genome.wustl.edu 36 2 130974577 130974577 + Splice_Site SNP A A G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 2 130974577 130974577 A G SNP LOC653269 XM_928585 human genbank 54_36p -1 model splice_site c.917+2 e4+2 0.717 - - - no_errors PLEKHB2 55041 genome.wustl.edu 36 2 131620738 131620738 + Missense_Mutation SNP C C G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 2 131620738 131620738 C G SNP PLEKHB2 NM_001100623 human genbank 54_36p +1 validated missense c.591 p.N197K 0.863 NULL superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors ENPP1 5167 genome.wustl.edu 36 6 132212840 132212840 + Missense_Mutation SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 6 132212840 132212840 C T SNP ENPP1 NM_006208 human genbank 54_36p +1 reviewed missense c.175 p.R59C 1.000 HMMSmart_SM00201,HMMPfam_Somatomedin_B,superfamily_Somatomedin B domain HMMSmart_SM00201,HMMPfam_Somatomedin_B,superfamily_Somatomedin B domain,PatternScan_SMB_1,superfamily_Alkaline phosphatase-like,HMMPfam_Phosphodiest,superfamily_His-Me finger endonucleases,HMMSmart_SM00477 - no_errors ENSG00000216965 0 genome.wustl.edu 36 X 134142850 134142850 + Splice_Site SNP C C A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 X 134142850 134142850 C A SNP ENSG00000216965 ENST00000402156 human ensembl 54_36p -1 known splice_site c.NULL NULL 0.033 - - - no_coding_region:pseudogene SLC4A9 83697 genome.wustl.edu 36 5 139720519 139720519 + Missense_Mutation SNP T T C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 5 139720519 139720519 T C SNP SLC4A9 ENST00000230993 human ensembl 54_36p +1 known missense c.241 p.S81P 0.000 superfamily_Phoshotransferase/anion transport protein superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp - no_errors PCDHB10 56126 genome.wustl.edu 36 5 140552460 140552460 + Missense_Mutation SNP G G A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 5 140552460 140552460 G A SNP PCDHB10 NM_018930 human genbank 54_36p +1 reviewed missense c.151 p.D51N 1.000 HMMPfam_Cadherin_2,superfamily_Cadherin HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA - no_errors CLCN1 1180 genome.wustl.edu 36 7 142739689 142739689 + Missense_Mutation SNP C C G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 7 142739689 142739689 C G SNP CLCN1 NM_000083 human genbank 54_36p +1 reviewed missense c.1222 p.P408A 1.000 superfamily_Clc chloride channel,HMMPfam_Voltage_CLC superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMPfam_CBS - no_errors PLEC1 5339 genome.wustl.edu 36 8 145069771 145069771 + Missense_Mutation SNP G G A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 8 145069771 145069771 G A SNP PLEC1 NM_201380 human genbank 54_36p -1 reviewed missense c.6725 p.A2242V 0.050 NULL HMMPfam_S10_plectin,superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin - no_errors WASH6P 0 genome.wustl.edu 36 X 154907954 154907954 + Missense_Mutation SNP G G A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 X 154907954 154907954 G A SNP WASH6P ENST00000359512 human ensembl 54_36p +1 known missense c.1298 p.R433H 1.000 NULL NULL - no_errors FCRL5 83416 genome.wustl.edu 36 1 155754897 155754897 + Missense_Mutation SNP C C G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 1 155754897 155754897 C G SNP FCRL5 NM_031281 human genbank 54_36p -1 validated missense c.2758 p.E920Q 0.000 NULL superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig - no_errors PTPRN2 5799 genome.wustl.edu 36 7 157168329 157168329 + Missense_Mutation SNP G G A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 7 157168329 157168329 G A SNP PTPRN2 NM_002847 human genbank 54_36p -1 reviewed missense c.1850 p.A617V 0.972 NULL superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors LOC100130897 0 genome.wustl.edu 36 2 161992086 161992086 + Missense_Mutation SNP G T T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 2 161992086 161992086 G T SNP LOC100130897 XM_001715939 human genbank 54_36p -1 model missense c.7 p.P3T 0.001 NULL NULL - no_errors HMMR 3161 genome.wustl.edu 36 5 162831007 162831007 + Missense_Mutation SNP G G A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 5 162831007 162831007 G A SNP HMMR NM_012484 human genbank 54_36p +1 reviewed missense c.607 p.E203K 0.000 NULL NULL - no_errors KCNH7 90134 genome.wustl.edu 36 2 163010889 163010889 + Missense_Mutation SNP T T C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 2 163010889 163010889 T C SNP KCNH7 NM_033272 human genbank 54_36p -1 reviewed missense c.1439 p.E480G 1.000 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding - no_errors GPR31 2853 genome.wustl.edu 36 6 167490875 167490875 + Silent SNP G G A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 6 167490875 167490875 G A SNP GPR31 NM_005299 human genbank 54_36p -1 validated silent c.435 p.L145 0.010 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ERGIC1 57222 genome.wustl.edu 36 5 172269295 172269295 + Missense_Mutation SNP G G A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 5 172269295 172269295 G A SNP ERGIC1 NM_001031711 human genbank 54_36p +1 reviewed missense c.175 p.D59N 1.000 NULL HMMPfam_DUF1692 - no_errors AADACL1 57552 genome.wustl.edu 36 3 173911512 173911512 + Missense_Mutation SNP G G C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 3 173911512 173911512 G C SNP AADACL1 NM_020792 human genbank 54_36p -1 provisional missense c.53 p.P18R 0.000 NULL superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_3,PatternScan_LIPASE_GDXG_SER - no_errors BTNL9 153579 genome.wustl.edu 36 5 180409908 180409908 + Missense_Mutation SNP C C A novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 5 180409908 180409908 C A SNP BTNL9 NM_152547 human genbank 54_36p +1 validated missense c.669 p.S223R 0.008 superfamily_Immunoglobulin superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449 - no_errors PLCL1 5334 genome.wustl.edu 36 2 198657523 198657523 + Missense_Mutation SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 2 198657523 198657523 C T SNP PLCL1 NM_006226 human genbank 54_36p +1 provisional missense c.743 p.T248I 0.954 superfamily_SSF47473,HMMPfam_efhand_like superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_SSF47473,HMMPfam_efhand_like,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors ENSG00000221452 0 genome.wustl.edu 36 3 199331225 199331225 + RNA SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 3 199331225 199331225 C T SNP ENSG00000221452 ENST00000408525 human ensembl 54_36p -1 novel rna NULL NULL 1.000 - - - no_errors SGOL2 151246 genome.wustl.edu 36 2 201108064 201108064 + Silent SNP A A G novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 2 201108064 201108064 A G SNP SGOL2 NM_152524 human genbank 54_36p +1 provisional silent c.234 p.E78 1.000 HMMPfam_Shugoshin_N HMMPfam_Shugoshin_N - no_errors CR1L 1379 genome.wustl.edu 36 1 205948232 205948232 + Splice_Site SNP G G C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 1 205948232 205948232 G C SNP CR1L NM_175710 human genbank 54_36p +1 validated splice_site c.1414+1 e10+1 0.098 - - - no_errors PCNXL2 80003 genome.wustl.edu 36 1 231188666 231188666 + Missense_Mutation SNP C C T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 1 231188666 231188666 C T SNP PCNXL2 NM_014801 human genbank 54_36p -1 provisional missense c.6035 p.R2012Q 0.038 NULL PatternScan_DNAJ_1,HMMPfam_Pecanex_C - no_errors CHRM3 1131 genome.wustl.edu 36 1 238137938 238137938 + Missense_Mutation SNP G G C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 1 238137938 238137938 G C SNP CHRM3 NM_000740 human genbank 54_36p +1 reviewed missense c.564 p.M188I 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors C1orf101 257044 genome.wustl.edu 36 1 242707854 242707854 + Missense_Mutation SNP G G T novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 1 242707854 242707854 G T SNP C1orf101 NM_173807 human genbank 54_36p +1 validated missense c.212 p.C71F 0.015 NULL NULL - no_errors OTOP1 133060 genome.wustl.edu 36 4 4279175 4279183 + In_Frame_Del DEL CCACAGCAG CCACAGCAG - novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 CCACAGCAG CCACAGCAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 4 4279175 4279183 CCACAGCAG - DEL OTOP1 NM_177998 human genbank 54_36p -1 provisional in_frame_del c.318_310 p.LLW104in_frame_del 1.000:1.000:1.000:0.999:1.000:0.996:0.996:1.000:1.000 NULL HMMPfam_DUF270 (deletion:cds_exon[4279090,4279492]) no_errors CRYBB1 1414 genome.wustl.edu 36 22 25338019 25338034 + Splice_Site DEL CGCCGCCCAGTACTCA CGCCGCCCAGTACTCA - novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 CGCCGCCCAGTACTCA CGCCGCCCAGTACTCA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 22 25338019 25338034 CGCCGCCCAGTACTCA - DEL CRYBB1 NM_001887 human genbank 54_36p -1 reviewed splice_site_del c.299+2_299+1 e2+2 0.001:0.000:0.000:0.000:0.000:0.006:0.019:0.001:0.000:0.000:0.001:0.994:1.000:1.000:1.000:1.000 - - (deletion:intron[25333986,25338035]) no_errors C2orf71 388939 genome.wustl.edu 36 2 29141430 29141431 + In_Frame_Ins INS - - GCT novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 2 29141430 29141431 - GCT INS C2orf71 NM_001029883 human genbank 54_36p -1 predicted in_frame_ins c.3676_3675 p.1225in_frame_insS 0.882:0.718 NULL NULL - no_errors DDR1 780 genome.wustl.edu 36 6 30966777 30966777 + Frame_Shift_Del DEL G G - novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 6 30966777 30966777 G - DEL DDR1 NM_013994 human genbank 54_36p +1 reviewed frame_shift_del c.466 p.M159fs 1.000 HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II (deletion:cds_exon[30966729,30966876]) no_errors NUMBL 9253 genome.wustl.edu 36 19 45865733 45865738 + In_Frame_Del DEL TGCTGT TGCTGT - novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 TGCTGT TGCTGT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 19 45865733 45865738 TGCTGT - DEL NUMBL NM_004756 human genbank 54_36p -1 validated in_frame_del c.1310_1305 p.QQ439in_frame_del 0.998:0.997:0.996:0.997:0.997:0.997 NULL superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PID,HMMPfam_NumbF (deletion:cds_exon[45865213,45865883]) no_errors RB1 5925 genome.wustl.edu 36 13 47853459 47853459 + Frame_Shift_Del DEL C C - novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 13 47853459 47853459 C - DEL RB1 NM_000321 human genbank 54_36p +1 reviewed frame_shift_del c.1574 p.F526fs 1.000 HMMPfam_RB_A,superfamily_Cyclin-like HMMPfam_RB_A,superfamily_Cyclin-like,HMMPfam_RB_B,HMMSmart_SM00385,HMMPfam_Rb_C (deletion:cds_exon[47853384,47853580]) no_errors LOC388553 388553 genome.wustl.edu 36 19 50956887 50956888 + In_Frame_Ins INS - - TCCAGC novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 19 50956887 50956888 - TCCAGC INS LOC388553 XM_373809 human genbank 54_36p +1 model in_frame_ins c.1215_1216 p.409in_frame_insSS 0.000:0.001 NULL HMMPfam_HLH,superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box - no_errors EML3 256364 genome.wustl.edu 36 11 62135374 62135375 + Frame_Shift_Ins INS - - C novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 11 62135374 62135375 - C INS EML3 NM_153265 human genbank 54_36p -1 validated frame_shift_ins c.213_212 p.L72fs 0.990:0.997 NULL HMMPfam_HELP,HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like - no_errors L1TD1 54596 genome.wustl.edu 36 1 62445192 62445192 + Frame_Shift_Del DEL T T - novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 1 62445192 62445192 T - DEL L1TD1 NM_019079 human genbank 54_36p +1 validated frame_shift_del c.304 p.Q103fs 0.000 NULL HMMPfam_Transposase_22 (deletion:cds_exon[62444889,62445896]) no_errors RAB11FIP5 26056 genome.wustl.edu 36 2 73161732 73161737 + In_Frame_Del DEL TCCTCC TCCTCC - novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 TCCTCC TCCTCC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 2 73161732 73161737 TCCTCC - DEL RAB11FIP5 ENST00000389508 human ensembl 54_36p -1 known in_frame_del c.2142_2137 p.GG713in_frame_del 0.207:0.212:0.205:0.113:0.056:0.011 NULL PatternScan_ENOYL_COA_HYDRATASE,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_RBD-FIP (deletion:cds_exon[73160287,73162299]) no_start_codon ST3GAL5 8869 genome.wustl.edu 36 2 85920913 85920923 + Frame_Shift_Del DEL GTAGTGCAAAG GTAGTGCAAAG - novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 GTAGTGCAAAG GTAGTGCAAAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 2 85920913 85920923 GTAGTGCAAAG - DEL ST3GAL5 NM_003896 human genbank 54_36p -1 reviewed frame_shift_del c.1122_1112 p.P371fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.889:0.877:0.977 HMMPfam_Glyco_transf_29 HMMPfam_Glyco_transf_29 (deletion:cds_exon[85920778,85921026]) no_errors LOC100131733 0 genome.wustl.edu 36 12 107974809 107974810 + In_Frame_Ins INS - - CGGCGG novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 12 107974809 107974810 - CGGCGG INS LOC100131733 XM_001722340 human genbank 54_36p -1 model in_frame_ins c.190_189 p.63in_frame_insPP 0.000:0.000 NULL NULL - no_errors FAM171B 165215 genome.wustl.edu 36 2 187267274 187267275 + In_Frame_Ins INS - - CAGCAG novel unknown TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 022f1926-871a-45ce-b0c6-28f594bbf5a3 0d9fd243-5634-4c0f-a707-4a482cb031c8 2 187267274 187267275 - CAGCAG INS FAM171B NM_177454 human genbank 54_36p +1 validated in_frame_ins c.129_130 p.47in_frame_insQQ 0.996:0.998 NULL HMMPfam_UPF0560 - no_errors