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 SIRT3 23410 genome.wustl.edu 36 11 208843 208843 + Missense_Mutation SNP C C T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 11 208843 208843 C T SNP SIRT3 NM_012239 human genbank 54_36p -1 validated missense c.1168 p.E390K 0.158 superfamily_SSF52467 superfamily_SSF52467,HMMPfam_SIR2 - no_errors NRSN2 80023 genome.wustl.edu 36 20 282082 282082 + Missense_Mutation SNP G G T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 20 282082 282082 G T SNP NRSN2 NM_024958 human genbank 54_36p +1 validated missense c.418 p.G140C 0.000 NULL NULL - no_errors LOC730993 730993 genome.wustl.edu 36 11 3528421 3528421 + RNA SNP T T G novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 11 3528421 3528421 T G SNP LOC730993 XR_038262 human genbank 54_36p -1 model rna NULL NULL 0.015 - - - pseudogene RLN1 6013 genome.wustl.edu 36 9 5329624 5329624 + Silent SNP G G A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 9 5329624 5329624 G A SNP RLN1 NM_006911 human genbank 54_36p -1 reviewed silent c.123 p.R41 0.000 superfamily_Insulin-like,HMMPfam_Insulin,HMMSmart_SM00078 superfamily_Insulin-like,HMMPfam_Insulin,HMMSmart_SM00078,PatternScan_INSULIN - no_errors LAMA1 284217 genome.wustl.edu 36 18 7013221 7013221 + Missense_Mutation SNP G G C novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 18 7013221 7013221 G C SNP LAMA1 NM_005559 human genbank 54_36p -1 validated missense c.2643 p.H881Q 1.000 superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_LAM_1 HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_EGF_2,HMMSmart_SM00281,HMMPfam_Laminin_B,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMSmart_SM00282,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2 - no_errors TP53 7157 genome.wustl.edu 36 17 7518254 7518254 + Missense_Mutation SNP A A C novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 17 7518254 7518254 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.752 p.I251S 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors PRAM1 84106 genome.wustl.edu 36 19 8470363 8470363 + Missense_Mutation SNP G G T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 19 8470363 8470363 G T SNP PRAM1 NM_032152 human genbank 54_36p -1 reviewed missense c.329 p.P110H 0.344 NULL superfamily_SH3-domain,HMMPfam_SH3_2 - no_errors RP1L1 94137 genome.wustl.edu 36 8 10501905 10501905 + Missense_Mutation SNP G G T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 8 10501905 10501905 G T SNP RP1L1 NM_178857 human genbank 54_36p -1 validated missense c.7113 p.D2371E 0.000 NULL superfamily_SSF89837,HMMPfam_DCX,HMMPfam_S-antigen - no_errors LDHAL6A 160287 genome.wustl.edu 36 11 18442104 18442104 + Silent SNP C C T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 11 18442104 18442104 C T SNP LDHAL6A NM_144972 human genbank 54_36p +1 validated silent c.147 p.V49 1.000 superfamily_NAD(P)-bd,HMMPfam_Ldh_1_N superfamily_NAD(P)-bd,HMMPfam_Ldh_1_N,superfamily_Lactate_DH/Glyco_hydro_4_C,HMMPfam_Ldh_1_C,PatternScan_L_LDH - no_errors TTC39C 125488 genome.wustl.edu 36 18 19952194 19952194 + Missense_Mutation SNP G G C novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 18 19952194 19952194 G C SNP TTC39C NM_153211 human genbank 54_36p +1 validated missense c.1003 p.V335L 1.000 HMMPfam_Deme6,superfamily_SSF48452 HMMPfam_Deme6,superfamily_SSF48452 - no_errors DNAH3 55567 genome.wustl.edu 36 16 21039668 21039668 + Nonsense_Mutation SNP G G T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 16 21039668 21039668 G T SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional nonsense c.1593 p.Y531* 0.292 NULL HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_Prefoldin,HMMPfam_Dynein_heavy - no_errors SLCO1A2 6579 genome.wustl.edu 36 12 21345444 21345444 + Missense_Mutation SNP C C A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 12 21345444 21345444 C A SNP SLCO1A2 NM_021094 human genbank 54_36p -1 reviewed missense c.616 p.G206C 1.000 superfamily_MFS general substrate transporter,HMMPfam_OATP superfamily_MFS general substrate transporter,HMMPfam_OATP,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2 - no_errors MLLT10 8028 genome.wustl.edu 36 10 22002369 22002369 + Missense_Mutation SNP A A T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 10 22002369 22002369 A T SNP MLLT10 NM_004641 human genbank 54_36p +1 validated missense c.1136 p.D379V 1.000 NULL superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1 - no_errors ZNF676 163223 genome.wustl.edu 36 19 22154982 22154982 + Silent SNP G G T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 19 22154982 22154982 G T SNP ZNF676 NM_001001411 human genbank 54_36p -1 provisional silent c.1377 p.T459 0.000 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_Krueppel-associated_box,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors CST4 1472 genome.wustl.edu 36 20 23615727 23615727 + Missense_Mutation SNP T T G novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 20 23615727 23615727 T G SNP CST4 NM_001899 human genbank 54_36p -1 reviewed missense c.340 p.K114Q 0.011 HMMSmart_CY,HMMPfam_Cystatin,superfamily_SSF54403 HMMSmart_CY,HMMPfam_Cystatin,superfamily_SSF54403,PatternScan_CYSTATIN - no_errors CDH2 1000 genome.wustl.edu 36 18 23786154 23786154 + Missense_Mutation SNP G G C novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 18 23786154 23786154 G C SNP CDH2 NM_001792 human genbank 54_36p -1 reviewed missense c.2682 p.F894L 1.000 HMMPfam_Cadherin_C superfamily_Cadherin-like,HMMPfam_Cadherin_pro,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors TM9SF4 9777 genome.wustl.edu 36 20 30216789 30216789 + Missense_Mutation SNP C C T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 20 30216789 30216789 C T SNP TM9SF4 NM_014742 human genbank 54_36p +1 validated missense c.1759 p.L587F 1.000 NULL HMMPfam_EMP70 - no_errors CLDN17 26285 genome.wustl.edu 36 21 30460449 30460449 + Nonsense_Mutation SNP C C A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 21 30460449 30460449 C A SNP CLDN17 NM_012131 human genbank 54_36p -1 provisional nonsense c.358 p.G120* 0.001 HMMPfam_PMP22_Claudin HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN - no_errors CAPN13 92291 genome.wustl.edu 36 2 30840583 30840583 + Missense_Mutation SNP G G T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 2 30840583 30840583 G T SNP CAPN13 NM_144575 human genbank 54_36p -1 validated missense c.618 p.H206Q 0.001 superfamily_Cysteine proteinases,HMMSmart_SM00230,HMMPfam_Peptidase_C2 superfamily_Cysteine proteinases,HMMSmart_SM00230,HMMPfam_Peptidase_C2,superfamily_Calpain large subunit middle domain (domain III),superfamily_EF-hand - no_errors CDH6 1004 genome.wustl.edu 36 5 31358784 31358784 + Missense_Mutation SNP A A G novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 5 31358784 31358784 A G SNP CDH6 NM_004932 human genbank 54_36p +1 reviewed missense c.1985 p.E662G 1.000 HMMPfam_Cadherin_C superfamily_Cadherin-like,HMMSmart_SM00112,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors SKIV2L 6499 genome.wustl.edu 36 6 32039771 32039771 + Missense_Mutation SNP T T G novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 6 32039771 32039771 T G SNP SKIV2L NM_006929 human genbank 54_36p +1 reviewed missense c.1750 p.S584A 0.965 superfamily_SSF52540 superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_DSHCT - no_errors LOC647211 647211 genome.wustl.edu 36 16 33287551 33287551 + RNA SNP A A T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 16 33287551 33287551 A T SNP LOC647211 XR_017499 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene KCTD17 79734 genome.wustl.edu 36 22 35788532 35788532 + Silent SNP C T T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 22 35788532 35788532 C T SNP KCTD17 NM_024681 human genbank 54_36p +1 validated silent c.825 p.P275 1.000 NULL superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra - no_errors CCNA1 8900 genome.wustl.edu 36 13 35905278 35905278 + Missense_Mutation SNP C C A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 13 35905278 35905278 C A SNP CCNA1 NM_003914 human genbank 54_36p +1 reviewed missense c.217 p.P73T 0.976 NULL superfamily_Cyclin-like,HMMPfam_Cyclin_N,PatternScan_CYCLINS,HMMSmart_SM00385,HMMPfam_Cyclin_C - no_errors BRPF3 27154 genome.wustl.edu 36 6 36276370 36276370 + Missense_Mutation SNP A A G novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 6 36276370 36276370 A G SNP BRPF3 NM_015695 human genbank 54_36p +1 validated missense c.293 p.K98R 1.000 HMMPfam_EPL1 HMMPfam_EPL1,superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1,superfamily_SSF63748,HMMPfam_PWWP,HMMSmart_PWWP - no_errors NUP155 9631 genome.wustl.edu 36 5 37335419 37335419 + Silent SNP C C T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 5 37335419 37335419 C T SNP NUP155 NM_153485 human genbank 54_36p -1 reviewed silent c.3570 p.G1190 0.839 HMMPfam_Nucleoporin HMMPfam_Nucleoporin - no_errors GDNF 2668 genome.wustl.edu 36 5 37851897 37851897 + Missense_Mutation SNP C C T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 5 37851897 37851897 C T SNP GDNF NM_000514 human genbank 54_36p -1 reviewed missense c.249 p.M83I 0.487 NULL HMMPfam_TGF_beta,superfamily_Cystine-knot cytokines,HMMSmart_SM00204 - no_errors ENTHD1 150350 genome.wustl.edu 36 22 38587758 38587758 + Nonsense_Mutation SNP T T A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 22 38587758 38587758 T A SNP ENTHD1 NM_152512 human genbank 54_36p -1 provisional nonsense c.550 p.K184* 0.948 NULL superfamily_ENTH/VHS domain,HMMPfam_ENTH,HMMSmart_SM00273 - no_errors KBTBD5 131377 genome.wustl.edu 36 3 42702778 42702778 + Missense_Mutation SNP G G A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 3 42702778 42702778 G A SNP KBTBD5 NM_152393 human genbank 54_36p +1 validated missense c.664 p.E222K 1.000 HMMPfam_BACK superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,PatternScan_MGMT,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612 - no_errors PLEKHH2 130271 genome.wustl.edu 36 2 43823467 43823467 + Nonsense_Mutation SNP C C A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 2 43823467 43823467 C A SNP PLEKHH2 NM_172069 human genbank 54_36p +1 validated nonsense c.3305 p.S1102* 1.000 HMMSmart_SM00139,HMMPfam_MyTH4 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00139,HMMPfam_MyTH4,HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M - no_errors ABCG8 64241 genome.wustl.edu 36 2 43925197 43925197 + Silent SNP C C T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 2 43925197 43925197 C T SNP ABCG8 NM_022437 human genbank 54_36p +1 reviewed silent c.111 p.Y37 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1,HMMPfam_ABC2_membrane - no_errors SLC12A5 57468 genome.wustl.edu 36 20 44115653 44115653 + Silent SNP C C T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 20 44115653 44115653 C T SNP SLC12A5 NM_020708 human genbank 54_36p +1 reviewed silent c.2577 p.F859 1.000 NULL HMMPfam_AA_permease - no_errors FGF10 2255 genome.wustl.edu 36 5 44340995 44340995 + Silent SNP A A G novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 5 44340995 44340995 A G SNP FGF10 NM_004465 human genbank 54_36p -1 reviewed silent c.486 p.N162 1.000 superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF,PatternScan_HBGF_FGF - no_errors NCCRP1 342897 genome.wustl.edu 36 19 44382943 44382943 + Silent SNP A A T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 19 44382943 44382943 A T SNP NCCRP1 NM_001001414 human genbank 54_36p +1 provisional silent c.666 p.G222 0.381 HMMPfam_FBA,superfamily_Gal_bind_like HMMPfam_FBA,superfamily_Gal_bind_like - no_errors FANCM 57697 genome.wustl.edu 36 14 44715264 44715264 + Missense_Mutation SNP A A C novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 14 44715264 44715264 A C SNP FANCM NM_020937 human genbank 54_36p +1 reviewed missense c.3557 p.N1186T 0.006 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,superfamily_Restriction endonuclease-like,HMMPfam_ERCC4,superfamily_RuvA domain 2-like - no_errors CUGBP1 10658 genome.wustl.edu 36 11 47453595 47453595 + Missense_Mutation SNP C C T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 11 47453595 47453595 C T SNP CUGBP1 NM_001025596 human genbank 54_36p -1 reviewed missense c.1058 p.G353E 0.991 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors BCAS1 8537 genome.wustl.edu 36 20 52108641 52108641 + Silent SNP G G T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 20 52108641 52108641 G T SNP BCAS1 NM_003657 human genbank 54_36p -1 reviewed silent c.24 p.P8 0.073 NULL NULL - no_errors A1CF 29974 genome.wustl.edu 36 10 52289630 52289630 + Missense_Mutation SNP C C T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 10 52289630 52289630 C T SNP A1CF NM_138932 human genbank 54_36p -1 reviewed missense c.77 p.R26H 1.000 superfamily_RNA-binding domain RBD superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_dsRNA-binding domain-like - no_errors SIGLECP16 400709 genome.wustl.edu 36 19 55167000 55167000 + Missense_Mutation SNP C C A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 19 55167000 55167000 C A SNP SIGLECP16 ENST00000356298 human ensembl 54_36p +1 known missense c.1157 p.P386Q 0.816 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig,PatternScan_IG_MHC - no_errors SRP72 6731 genome.wustl.edu 36 4 57048932 57048932 + Missense_Mutation SNP G G A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 4 57048932 57048932 G A SNP SRP72 NM_006947 human genbank 54_36p +1 validated missense c.1220 p.G407D 1.000 superfamily_SSF48452 superfamily_SSF48452,HMMPfam_TPR_1,HMMPfam_SRP72 - no_errors SLC16A7 9194 genome.wustl.edu 36 12 58385067 58385067 + Splice_Site SNP G G T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 12 58385067 58385067 G T SNP SLC16A7 NM_004731 human genbank 54_36p +1 provisional splice_site c.217+1 e1+1 1.000 - - - no_errors NARG2 79664 genome.wustl.edu 36 15 58527569 58527569 + Silent SNP A A G novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 15 58527569 58527569 A G SNP NARG2 NM_024611 human genbank 54_36p -1 validated silent c.2187 p.N729 0.997 HMMPfam_NARG2_C HMMPfam_NARG2_C - no_errors CCDC86 79080 genome.wustl.edu 36 11 60374338 60374338 + Silent SNP G G A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 11 60374338 60374338 G A SNP CCDC86 NM_024098 human genbank 54_36p +1 validated silent c.1047 p.Q349 1.000 NULL NULL - no_errors RLBP1L1 157807 genome.wustl.edu 36 8 62533549 62533549 + Missense_Mutation SNP G G T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 8 62533549 62533549 G T SNP RLBP1L1 NM_173519 human genbank 54_36p +1 validated missense c.871 p.D291Y 0.995 superfamily_CRAL/TRIO domain superfamily_CRAL/TRIO N-terminal domain,HMMPfam_CRAL_TRIO_N,HMMPfam_CRAL_TRIO,superfamily_CRAL/TRIO domain,HMMSmart_SM00516 - no_errors ZNF772 400720 genome.wustl.edu 36 19 62676608 62676608 + Missense_Mutation SNP C C A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 19 62676608 62676608 C A SNP ZNF772 NM_001024596 human genbank 54_36p -1 validated missense c.1316 p.C439F 1.000 superfamily_C2H2 and C2HC zinc fingers,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,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors SPG21 51324 genome.wustl.edu 36 15 63048706 63048706 + Missense_Mutation SNP T T C novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 15 63048706 63048706 T C SNP SPG21 NM_016630 human genbank 54_36p -1 reviewed missense c.608 p.N203S 1.000 superfamily_SSF53474 superfamily_SSF53474,HMMPfam_Abhydrolase_1 - no_errors YTHDF3 253943 genome.wustl.edu 36 8 64262291 64262291 + Missense_Mutation SNP G G A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 8 64262291 64262291 G A SNP YTHDF3 ENST00000339066 human ensembl 54_36p +1 known missense c.1165 p.E389K 0.997 NULL HMMPfam_YTH - no_stop_codon LOC100129692 0 genome.wustl.edu 36 X 65212550 65212550 + Missense_Mutation SNP C C T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 X 65212550 65212550 C T SNP LOC100129692 XM_001721387 human genbank 54_36p -1 model missense c.809 p.R270H 1.000 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 HMMPfam_HSF_DNA-bind,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors FAM65A 79567 genome.wustl.edu 36 16 66134254 66134254 + Silent SNP C C T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 16 66134254 66134254 C T SNP FAM65A NM_024519 human genbank 54_36p +1 validated silent c.2064 p.S688 0.672 NULL superfamily_ARM-type_fold - no_errors PGM5P2 0 genome.wustl.edu 36 9 68163889 68163889 + Missense_Mutation SNP C C T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 9 68163889 68163889 C T SNP PGM5P2 ENST00000377476 human ensembl 54_36p -1 known missense c.710 p.R237H 1.000 superfamily_A-D-PHexomutase_a/b/a-I/II/III,HMMPfam_PGM_PMM_II HMMPfam_PGM_PMM_I,superfamily_A-D-PHexomutase_a/b/a-I/II/III,PatternScan_PGM_PMM,HMMPfam_PGM_PMM_II,HMMPfam_PGM_PMM_III - no_errors GPR142 350383 genome.wustl.edu 36 17 69880070 69880070 + Silent SNP C T T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 17 69880070 69880070 C T SNP GPR142 NM_181790 human genbank 54_36p +1 provisional silent c.1125 p.F375 0.007 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors C17orf28 283987 genome.wustl.edu 36 17 70471525 70471525 + Missense_Mutation SNP T G G novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 17 70471525 70471525 T G SNP C17orf28 NM_030630 human genbank 54_36p -1 validated missense c.292 p.S98R 1.000 HMMPfam_Hid1 HMMPfam_Hid1 - no_errors LPHN2 23266 genome.wustl.edu 36 1 82208796 82208796 + Missense_Mutation SNP A A G novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 1 82208796 82208796 A G SNP LPHN2 NM_012302 human genbank 54_36p +1 reviewed missense c.2893 p.T965A 1.000 HMMPfam_7tm_2 HMMPfam_Gal_Lectin,HMMPfam_OLF,HMMSmart_SM00284,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2,HMMPfam_Latrophilin - no_errors HERC3 8916 genome.wustl.edu 36 4 89794224 89794224 + Missense_Mutation SNP T T A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 4 89794224 89794224 T A SNP HERC3 NM_014606 human genbank 54_36p +1 provisional missense c.694 p.S232T 0.989 superfamily_RCC1/BLIP-II,HMMPfam_RCC1 superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors FBLN5 10516 genome.wustl.edu 36 14 91413777 91413777 + Missense_Mutation SNP C C T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 14 91413777 91413777 C T SNP FBLN5 NM_006329 human genbank 54_36p -1 reviewed missense c.992 p.R331H 1.000 HMMPfam_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin superfamily_EGF/Laminin,HMMPfam_EGF_CA,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_Serine proterase inhibitors,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2 - no_errors JMJD2D 55693 genome.wustl.edu 36 11 94371473 94371473 + Missense_Mutation SNP G G C novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 11 94371473 94371473 G C SNP JMJD2D NM_018039 human genbank 54_36p +1 validated missense c.1289 p.S430T 0.000 NULL HMMPfam_JmjN,HMMSmart_JmjC,HMMPfam_JmjC - no_errors PDE6C 5146 genome.wustl.edu 36 10 95370435 95370435 + Silent SNP G G T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 10 95370435 95370435 G T SNP PDE6C NM_006204 human genbank 54_36p +1 validated silent c.537 p.L179 1.000 superfamily_SSF55781,HMMPfam_GAF,HMMSmart_GAF superfamily_SSF55781,HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors LRRK1 79705 genome.wustl.edu 36 15 99412921 99412921 + Silent SNP G G A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 15 99412921 99412921 G A SNP LRRK1 NM_024652 human genbank 54_36p +1 validated silent c.4302 p.E1434 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220 superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_L domain-like,HMMSmart_SM00364,HMMSmart_SM00369,HMMPfam_LRR_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Miro,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220 - no_errors OBFC1 79991 genome.wustl.edu 36 10 105648738 105648738 + Silent SNP G G A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 10 105648738 105648738 G A SNP OBFC1 NM_024928 human genbank 54_36p -1 validated silent c.468 p.D156 0.984 superfamily_Nucleic_acid_OB superfamily_Nucleic_acid_OB,HMMPfam_tRNA_anti,HMMPfam_DUF1879 - no_errors ZNF462 58499 genome.wustl.edu 36 9 108729008 108729008 + Silent SNP T T C novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 9 108729008 108729008 T C SNP ZNF462 NM_021224 human genbank 54_36p +1 validated silent c.2994 p.G998 0.996 superfamily_beta-sandwich domain of Sec23/24 superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_beta-sandwich domain of Sec23/24 - no_errors PHLDB2 90102 genome.wustl.edu 36 3 113086759 113086759 + Missense_Mutation SNP A A G novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 3 113086759 113086759 A G SNP PHLDB2 NM_145753 human genbank 54_36p +1 validated missense c.1145 p.N382S 1.000 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors ADAM30 11085 genome.wustl.edu 36 1 120239728 120239728 + Missense_Mutation SNP G G A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 1 120239728 120239728 G A SNP ADAM30 NM_021794 human genbank 54_36p -1 reviewed missense c.755 p.A252V 0.002 "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,PatternScan_EGF_2" - no_errors OR8D4 338662 genome.wustl.edu 36 11 123283035 123283035 + Missense_Mutation SNP C C G novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 11 123283035 123283035 C G SNP OR8D4 NM_001005197 human genbank 54_36p +1 provisional missense c.687 p.H229Q 0.002 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ADAD1 132612 genome.wustl.edu 36 4 123521617 123521617 + Missense_Mutation SNP C C A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 4 123521617 123521617 C A SNP ADAD1 NM_139243 human genbank 54_36p +1 provisional missense c.193 p.L65I 0.732 NULL superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358,HMMSmart_SM00552,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_A_deamin - no_errors MKLN1 4289 genome.wustl.edu 36 7 130734566 130734566 + Silent SNP T T A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 7 130734566 130734566 T A SNP MKLN1 NM_013255 human genbank 54_36p +1 validated silent c.537 p.L179 1.000 HMMPfam_Muskelin_N,HMMSmart_SM00667 superfamily_Galactose-binding domain-like,HMMPfam_Muskelin_N,HMMSmart_SM00667,HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain - no_errors PCDH10 57575 genome.wustl.edu 36 4 134293192 134293192 + Missense_Mutation SNP A A G novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 4 134293192 134293192 A G SNP PCDH10 NM_032961 human genbank 54_36p +1 reviewed missense c.2447 p.N816S 1.000 NULL HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin,PatternScan_EGF_1 - no_errors SLC35D3 340146 genome.wustl.edu 36 6 137287328 137287328 + Missense_Mutation SNP C C G novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 6 137287328 137287328 C G SNP SLC35D3 NM_001008783 human genbank 54_36p +1 provisional missense c.1052 p.A351G 0.342 NULL HMMPfam_UAA - no_errors PCDHB2 56133 genome.wustl.edu 36 5 140456887 140456887 + Missense_Mutation SNP G G T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 5 140456887 140456887 G T SNP PCDHB2 NM_018936 human genbank 54_36p +1 reviewed missense c.2329 p.V777F 0.001 NULL HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin - no_errors PCDHB4 56131 genome.wustl.edu 36 5 140482293 140482293 + Missense_Mutation SNP T T A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 5 140482293 140482293 T A SNP PCDHB4 NM_018938 human genbank 54_36p +1 reviewed missense c.529 p.F177I 1.000 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA - no_errors RPL8 6132 genome.wustl.edu 36 8 145986010 145986010 + Missense_Mutation SNP G G C novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 8 145986010 145986010 G C SNP RPL8 NM_000973 human genbank 54_36p -1 reviewed missense c.757 p.Q253E 1.000 NULL superfamily_Nucleic acid-binding proteins,HMMPfam_Ribosomal_L2,HMMPfam_Ribosomal_L2_C,superfamily_Translation proteins SH3-like domain,PatternScan_RIBOSOMAL_L2 - no_errors SETDB1 9869 genome.wustl.edu 36 1 149181730 149181730 + Silent SNP G G C novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 1 149181730 149181730 G C SNP SETDB1 NM_012432 human genbank 54_36p +1 reviewed silent c.615 p.L205 1.000 NULL HMMSmart_TUDOR,HMMPfam_MBD,superfamily_DNA-binding_integrase-type,HMMSmart_MBD,superfamily_SSF82199,HMMSmart_PreSET,HMMPfam_Pre-SET,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET - no_errors PRUNE 58497 genome.wustl.edu 36 1 149267933 149267933 + Nonsense_Mutation SNP C C A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 1 149267933 149267933 C A SNP PRUNE NM_021222 human genbank 54_36p +1 provisional nonsense c.822 p.C274* 0.996 superfamily_DHH phosphoesterases,HMMPfam_DHHA2 HMMPfam_DHH,superfamily_DHH phosphoesterases,HMMPfam_DHHA2,PatternScan_GLYCOSYL_HYDROL_F5 - no_errors GPR149 344758 genome.wustl.edu 36 3 155621675 155621675 + Missense_Mutation SNP A A T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 3 155621675 155621675 A T SNP GPR149 NM_001038705 human genbank 54_36p -1 provisional missense c.1470 p.D490E 0.000 NULL NULL - no_errors APCS 325 genome.wustl.edu 36 1 157824990 157824990 + Missense_Mutation SNP C C G novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 1 157824990 157824990 C G SNP APCS NM_001639 human genbank 54_36p +1 reviewed missense c.540 p.D180E 0.880 HMMSmart_PTX,superfamily_ConA_like_lec_gl,HMMPfam_Pentaxin HMMSmart_PTX,superfamily_ConA_like_lec_gl,HMMPfam_Pentaxin,PatternScan_PENTAXIN - no_errors UBR3 130507 genome.wustl.edu 36 2 170566096 170566096 + Missense_Mutation SNP G G A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 2 170566096 170566096 G A SNP UBR3 NM_172070 human genbank 54_36p +1 validated missense c.514 p.G172R 1.000 superfamily_RING/U-box superfamily_RING/U-box,HMMPfam_zf-C3HC4 - no_errors PEX5L 51555 genome.wustl.edu 36 3 181075854 181075854 + Missense_Mutation SNP C C T novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 3 181075854 181075854 C T SNP PEX5L NM_016559 human genbank 54_36p -1 provisional missense c.611 p.G204E 1.000 NULL superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028 - no_errors NCKAP1 10787 genome.wustl.edu 36 2 183568743 183568743 + Missense_Mutation SNP C C G novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 2 183568743 183568743 C G SNP NCKAP1 NM_205842 human genbank 54_36p -1 validated missense c.690 p.W230C 1.000 HMMPfam_Nckap1 HMMPfam_Nckap1 - no_errors CFH 3075 genome.wustl.edu 36 1 194982868 194982868 + Silent SNP G G A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 1 194982868 194982868 G A SNP CFH NM_000186 human genbank 54_36p +1 reviewed silent c.3498 p.P1166 0.018 superfamily_Complement control module/SCR domain superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - no_errors PLCL1 5334 genome.wustl.edu 36 2 198658688 198658688 + Silent SNP A A G novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 2 198658688 198658688 A G SNP PLCL1 NM_006226 human genbank 54_36p +1 provisional silent c.1908 p.P636 1.000 superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 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 PIP5K3 200576 genome.wustl.edu 36 2 208897160 208897160 + Missense_Mutation SNP C C A novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 2 208897160 208897160 C A SNP PIP5K3 NM_015040 human genbank 54_36p +1 validated missense c.2240 p.P747H 0.998 superfamily_GroEL-intermediate domain like,HMMPfam_Cpn60_TCP1,superfamily_GroEL apical domain-like "superfamily_FYVE/PHD zinc finger,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_DEP,HMMSmart_SM00049,superfamily_GroEL-intermediate domain like,HMMPfam_Cpn60_TCP1,superfamily_GroEL apical domain-like,superfamily_SAICAR synthase-like,HMMSmart_SM00330,HMMPfam_PIP5K" - no_errors NADK 65220 genome.wustl.edu 36 1 1674207 1674208 + In_Frame_Ins INS - - CCT novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 1 1674207 1674208 - CCT INS NADK NM_023018 human genbank 54_36p -1 validated in_frame_ins c.1337_1336 p.446in_frame_insE 0.003:0.004 NULL superfamily_NAD kinase (Pfam 01513),HMMPfam_NAD_kinase - no_errors CPNE9 151835 genome.wustl.edu 36 3 9742733 9742761 + In_Frame_Del DEL AGCGTGAGTCTGAGGAGGAGGGCTTGGCA AGCGTGAGTCTGAGGAGGAGGGCTTGGCA - novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 AGCGTGAGTCTGAGGAGGAGGGCTTGGCA AGCGTGAGTCTGAGGAGGAGGGCTTGGCA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 3 9742733 9742761 AGCGTGAGTCTGAGGAGGAGGGCTTGGCA - DEL CPNE9 NM_153635 human genbank 54_36p +1 validated in_frame_del c.1342_1344 p.S448in_frame_del 1.000:0.995:0.982 superfamily_SSF53300,HMMSmart_VWA,HMMPfam_Copine superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_Copine (deletion:cds_exon[9742633,9742735], intron[9742736,9743348]) no_errors TEKT5 146279 genome.wustl.edu 36 16 10695678 10695684 + Frame_Shift_Del DEL CAGTTCA CAGTTCA - novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 CAGTTCA CAGTTCA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 16 10695678 10695684 CAGTTCA - DEL TEKT5 NM_144674 human genbank 54_36p -1 provisional frame_shift_del c.554_548 p.V183fs 0.996:0.996:0.994:0.996:0.985:0.901:0.885 HMMPfam_Tektin HMMPfam_Tektin (deletion:cds_exon[10695668,10696231]) no_errors ZNF225 7768 genome.wustl.edu 36 19 49327683 49327683 + Frame_Shift_Del DEL T T - novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 19 49327683 49327683 T - DEL ZNF225 NM_013362 human genbank 54_36p +1 validated frame_shift_del c.1076 p.Y360fs 0.004 superfamily_C2H2 and C2HC zinc fingers,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,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 (deletion:cds_exon[49326843,49328728]) no_errors MST1R 4486 genome.wustl.edu 36 3 49910022 49910023 + Frame_Shift_Del DEL TA TA - novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 TA TA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 3 49910022 49910023 TA - DEL MST1R NM_002447 human genbank 54_36p -1 validated frame_shift_del c.1981_1980 p.N661fs 0.002:0.001 HMMSmart_SM00429,HMMPfam_TIG superfamily_Sema domain,HMMSmart_SM00630,HMMPfam_Sema,superfamily_Plexin repeat,HMMPfam_PSI,HMMSmart_SM00423,superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR (deletion:cds_exon[49909957,49910122]) no_errors ACADS 35 genome.wustl.edu 36 12 119661511 119661541 + Frame_Shift_Del DEL CGTGACAGAGATGCCGGCAGAGCGGCACTAC CGTGACAGAGATGCCGGCAGAGCGGCACTAC - novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 CGTGACAGAGATGCCGGCAGAGCGGCACTAC CGTGACAGAGATGCCGGCAGAGCGGCACTAC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 12 119661511 119661541 CGTGACAGAGATGCCGGCAGAGCGGCACTAC - DEL ACADS NM_000017 human genbank 54_36p +1 reviewed frame_shift_del c.1116_1146 p.V373fs 0.990:1.000:1.000:1.000:0.997:0.995:0.973:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.900:1.000:1.000:0.992:1.000:1.000:0.998:1.000:1.000:0.994:1.000:1.000:1.000:1.000:1.000:1.000 HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like,PatternScan_ACYL_COA_DH_2 superfamily_AcylCoA_dehyd_NM,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like,PatternScan_ACYL_COA_DH_2 (deletion:cds_exon[119661482,119661634]) no_errors SNORD90 0 genome.wustl.edu 36 9 124682396 124682405 + RNA DEL CATCATTAGA CATCATTAGA - novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 CATCATTAGA CATCATTAGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 9 124682396 124682405 CATCATTAGA - DEL SNORD90 NR_003071 human genbank 54_36p -1 provisional rna NULL NULL 1.000:1.000:1.000:1.000:0.998:0.973:0.939:0.997:1.000:1.000 - - (deletion:rna[124682313,124682419]) no_errors IRF5 3663 genome.wustl.edu 36 7 128374588 128374617 + Splice_Site DEL ACTCTGCAGCCGCCCACTCTGCGGCCGCCT ACTCTGCAGCCGCCCACTCTGCGGCCGCCT - novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 ACTCTGCAGCCGCCCACTCTGCGGCCGCCT ACTCTGCAGCCGCCCACTCTGCGGCCGCCT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 7 128374588 128374617 ACTCTGCAGCCGCCCACTCTGCGGCCGCCT - DEL IRF5 NM_002200 human genbank 54_36p +1 reviewed splice_site_del c.541+9_541+1 e6-1 0.714:0.698:0.682:0.666:0.650:0.635:0.620:0.605:0.590:0.575:0.561:0.546:0.532:0.517:0.503:0.489:0.475:0.461:0.447:0.433:0.419:0.405:0.391:0.377:0.363:0.349:0.335:0.321:0.306:0.292 - - (deletion:intron[128374580,128374609], cds_exon[128374610,128374825]) no_errors HIVEP2 3097 genome.wustl.edu 36 6 143116411 143116416 + In_Frame_Del DEL AGCGTG AGCGTG - novel unknown TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 AGCGTG AGCGTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f8a33d13-f6f8-4328-a895-4bfdb94015ab 3a5c9d27-bef8-48c4-9009-758f47424e85 6 143116411 143116416 AGCGTG - DEL HIVEP2 NM_006734 human genbank 54_36p -1 provisional in_frame_del c.6867_6862 p.HA2288in_frame_del 0.000:0.000:0.000:0.000:0.591:0.697 NULL HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667 (deletion:cds_exon[143115937,143116761]) no_errors