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 transcript_name strand transcript_status amino_acid_change ucsc_cons normal_depth normal_vaf tumor_depth tumor_vaf rna_depth rna_vaf polyphen sift condel domain OR4F5 79501 genome.wustl.edu 37 1 69345 69345 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005484.1 +1 provisional p.I85 0.754 993 0% 1165 12.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 NOC2L 26155 genome.wustl.edu 37 1 881002 881002 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015658.3 -1 validated p.R650Q 0.998 47 0% 43 25.6% 149 46.9% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL TTLL10 254173 genome.wustl.edu 37 1 1117749 1117749 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130045.1 +1 validated p.R280I 1.000 35 0% 35 22.9% 0 - benign(0.347) deleterious(0.04) neutral(0.459) HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like ACTRT2 140625 genome.wustl.edu 37 1 2939348 2939348 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080431.4 +1 reviewed p.E366D 1.000 35 0% 37 32.4% 0 - probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain CHD5 26038 genome.wustl.edu 37 1 6196633 6196633 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015557.1 -1 provisional p.Q880H 1.000 42 0% 50 24% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540 RPL22 6146 genome.wustl.edu 37 1 6246853 6246853 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000983.3 -1 reviewed p.K89T 1.000 115 0% 94 28.7% 590 58.1% benign(0.052) deleterious(0) neutral(0.448) HMMPfam_Ribosomal_L22e ACOT7 11332 genome.wustl.edu 37 1 6399560 6399560 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181864.2 -1 reviewed p.E127 1.000 28 0% 26 38.5% 61 49.1% - - - HMMPfam_4HBT,superfamily_Thioesterase/thiol ester dehydrase-isomerase CAMTA1 23261 genome.wustl.edu 37 1 7723533 7723533 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015215.1 +1 validated p.S309L 1.000 31 0% 30 53.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL PIK3CD 5293 genome.wustl.edu 37 1 9783210 9783210 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005026.3 +1 validated p.T818 0.036 52 0% 39 17.9% 4 0% - - - HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like PIK3CD 5293 genome.wustl.edu 37 1 9783347 9783347 + Missense_Mutation SNP C C T rs148984508 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005026.3 +1 validated p.P864L 1.000 44 0% 33 27.3% 1 0% benign(0.036) deleterious(0.04) neutral(0.351) HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like UBE4B 10277 genome.wustl.edu 37 1 10166437 10166437 + Missense_Mutation SNP G G A rs180983516 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105562.1 +1 reviewed p.R331H 1.000 158 0% 176 33% 0 - unknown(0) deleterious(0.04) - NULL PGD 5226 genome.wustl.edu 37 1 10471501 10471501 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002631.2 +1 reviewed p.F182 0.970 20 0% 27 40.7% 232 37% - - - HMMPfam_6PGD,superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like PGD 5226 genome.wustl.edu 37 1 10479704 10479704 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002631.2 +1 reviewed p.F450 1.000 127 0% 165 31.5% 408 38.2% - - - HMMPfam_6PGD,superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like APITD1 378708 genome.wustl.edu 37 1 10500415 10500415 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198544.2 +1 reviewed p.R74I 1.000 71 0% 60 25% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Histone-fold MASP2 10747 genome.wustl.edu 37 1 11103047 11103047 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006610.2 -1 reviewed p.F258L 0.846 36 0% 22 40.9% 0 - benign(0.369) tolerated(0.55) neutral(0.124) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain MTOR 2475 genome.wustl.edu 37 1 11206828 11206828 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004958.3 -1 reviewed p.E1531* 1.000 101 0% 98 27.6% 2 0% - - - HMMPfam_FAT,superfamily_ARM-type_fold,superfamily_SSF48452 MTHFR 4524 genome.wustl.edu 37 1 11863019 11863019 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005957.4 -1 reviewed p.R52Q 1.000 30 0% 33 30.3% 0 - possibly_damaging(0.934) tolerated(0.22) neutral(0.422) HMMPfam_MTHFR,superfamily_FAD-linked oxidoreductase NPPB 4879 genome.wustl.edu 37 1 11918376 11918376 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002521.2 -1 reviewed p.L95I 0.000 44 0% 38 31.6% 0 - possibly_damaging(0.763) deleterious(0.02) deleterious(0.666) HMMPfam_ANP KIAA2013 90231 genome.wustl.edu 37 1 11983163 11983163 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138346.1 -1 provisional p.D473N 1.000 28 0% 36 16.7% 387 43.4% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_DUF2152 TNFRSF8 943 genome.wustl.edu 37 1 12186103 12186103 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001243.3 +1 reviewed p.R417W 0.008 56 0% 73 37% 0 - benign(0.015) deleterious(0.01) neutral(0.406) NULL TNFRSF8 943 genome.wustl.edu 37 1 12198313 12198313 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001243.3 +1 reviewed p.E455* 0.001 17 0% 20 25% 0 - - - - NULL VPS13D 55187 genome.wustl.edu 37 1 12320763 12320763 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015378.2 +1 reviewed p.R375Q 1.000 108 0% 65 21.5% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL VPS13D 55187 genome.wustl.edu 37 1 12321133 12321133 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015378.2 +1 reviewed p.Q447 0.026 120 0% 113 9.7% 0 - - - - NULL C1orf158 93190 genome.wustl.edu 37 1 12815659 12815659 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152290.2 +1 validated p.D41Y 0.020 168 0% 214 22.4% 0 - benign(0) tolerated(0.05) neutral(0.345) NULL LOC440563 440563 genome.wustl.edu 37 1 13183412 13183412 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001136561.2 -1 validated p.R154Q 0.988 600 0% 711 20.3% 0 - - - - NULL LOC440563 440563 genome.wustl.edu 37 1 13183683 13183683 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001136561.2 -1 validated p.R64W 1.000 133 0% 155 18.1% 1 0% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD PDPN 10630 genome.wustl.edu 37 1 13940871 13940871 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006474.4 +1 reviewed p.I225 0.022 148 0% 139 20.1% 15 0% - - - HMMPfam_Podoplanin PRDM2 7799 genome.wustl.edu 37 1 14109209 14109209 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012231.4 +1 reviewed p.K1640T 0.957 106 0% 98 30.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL KAZ 23254 genome.wustl.edu 37 1 15392182 15392182 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_201628.2 +1 validated p.F385 1.000 79 0% 89 29.2% 4 75% - - - NULL CELA2B 51032 genome.wustl.edu 37 1 15813931 15813931 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015849.2 +1 reviewed p.S264L 0.001 67 0% 77 31.2% 0 - benign(0.025) tolerated(0.12) neutral(0.262) superfamily_Pept_Ser_Cys DNAJC16 23341 genome.wustl.edu 37 1 15873286 15873286 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015291.2 +1 provisional p.F262V 0.992 202 0% 269 30.5% 0 - probably_damaging(0.954) deleterious(0.01) deleterious(0.803) superfamily_Thioredoxin-like SPEN 23013 genome.wustl.edu 37 1 16256661 16256661 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015001.2 +1 reviewed p.F1309C 1.000 310 0% 308 23.4% 0 - possibly_damaging(0.917) tolerated(0.14) deleterious(0.617) NULL NBPF1 55672 genome.wustl.edu 37 1 16913693 16913693 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017940.3 -1 predicted p.T210 0.000 718 0% 574 27% 0 - - - - HMMPfam_DUF1220 RCC2 55920 genome.wustl.edu 37 1 17755626 17755626 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001136204.1 -1 validated p.R119* 1.000 76 0% 63 25.4% 10 0% - - - superfamily_RCC1/BLIP-II ARHGEF10L 55160 genome.wustl.edu 37 1 18021692 18021692 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018125.3 +1 validated p.Q1075L 1.000 10 0% 18 44.4% 73 46.5% probably_damaging(0.983) deleterious(0.05) deleterious(0.774) superfamily_WD40 repeat-like PAX7 5081 genome.wustl.edu 37 1 18962743 18962743 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002584.2 +1 reviewed p.S155L 1.000 36 0% 59 25.4% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_PAX,HMMSmart_SM00351,superfamily_Homeodomain-like UBR4 23352 genome.wustl.edu 37 1 19419871 19419871 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020765.2 -1 validated p.L4683I 1.000 105 0% 145 23.4% 6 33.3% benign(0.019) tolerated(1) neutral(0.001) superfamily_ARM repeat KIAA0090 23065 genome.wustl.edu 37 1 19549244 19549244 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015047.1 -1 predicted p.A821T 0.998 70 0% 72 23.6% 36 55.5% benign(0.062) tolerated(0.35) neutral(0.025) HMMPfam_DUF1620 HTR6 3362 genome.wustl.edu 37 1 19992561 19992561 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000871.1 +1 provisional p.F105 1.000 29 0% 55 34.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 UBXN10 127733 genome.wustl.edu 37 1 20517580 20517580 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152376.3 +1 provisional p.V176I 0.000 191 0% 189 34.4% 7 57.1% benign(0.002) tolerated(0.77) neutral(0.001) NULL EIF4G3 8672 genome.wustl.edu 37 1 21296047 21296047 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003760.3 -1 validated p.E156* 1.000 163 0% 98 21.4% 1 0% - - - NULL EIF4G3 8672 genome.wustl.edu 37 1 21306902 21306902 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003760.3 -1 validated p.Q84* 1.000 50 0% 45 37.8% 0 - - - - NULL ZBTB40 9923 genome.wustl.edu 37 1 22839448 22839448 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001083621.1 +1 validated p.F831 0.992 130 0.8% 114 37.7% 4 75% - - - superfamily_C2H2 and C2HC zinc fingers EPHA8 2046 genome.wustl.edu 37 1 22902940 22902940 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020526.3 +1 reviewed p.D130 1.000 20 0% 36 16.7% 0 - - - - HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,superfamily_Gal_bind_like EPHB2 2048 genome.wustl.edu 37 1 23232505 23232505 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004442.6 +1 reviewed p.I598 0.298 82 0% 63 23.8% 4 100% - - - superfamily_Kinase_like LUZP1 7798 genome.wustl.edu 37 1 23417871 23417871 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142546.1 -1 reviewed p.E962* 0.998 207 0% 204 28.4% 1 0% - - - NULL LUZP1 7798 genome.wustl.edu 37 1 23418154 23418154 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142546.1 -1 reviewed p.K867N 0.011 289 0% 285 27.4% 2 0% possibly_damaging(0.736) deleterious(0.01) deleterious(0.675) NULL LUZP1 7798 genome.wustl.edu 37 1 23420673 23420673 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142546.1 -1 reviewed p.D28Y 1.000 210 0% 167 34.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CortBP2 TCEB3 6924 genome.wustl.edu 37 1 24078295 24078295 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003198.2 +1 reviewed p.F426 0.797 309 0% 373 13.7% 5 20% - - - NULL PITHD1 57095 genome.wustl.edu 37 1 24112859 24112859 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020362.4 +1 validated p.F160 1.000 51 0% 53 20.8% 4 25% - - - HMMPfam_DUF1000 HMGCL 3155 genome.wustl.edu 37 1 24140706 24140706 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000191.2 -1 reviewed p.A157 0.000 186 0% 333 27.9% 29 34.4% - - - HMMPfam_HMGL-like,superfamily_Aldolase FUCA1 2517 genome.wustl.edu 37 1 24191981 24191981 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000147.4 -1 reviewed p.R175M 1.000 70 0% 88 25% 25 48% possibly_damaging(0.658) tolerated(0.07) deleterious(0.551) HMMPfam_Alpha_L_fucos,superfamily_Glyco_hydro_cat CLIC4 25932 genome.wustl.edu 37 1 25153567 25153567 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013943.2 +1 reviewed p.F125L 1.000 254 0% 294 25.2% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Glutathione S-transferase (GST) C-terminal domain C1orf63 57035 genome.wustl.edu 37 1 25571769 25571769 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020317.3 -1 validated p.A182T 1.000 103 0% 99 22.2% 19 21% possibly_damaging(0.792) deleterious(0) deleterious(0.742) NULL PDIK1L 149420 genome.wustl.edu 37 1 26440917 26440917 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152835.3 +1 validated p.R40* 1.000 31 0% 19 21.1% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CEP85 64793 genome.wustl.edu 37 1 26586194 26586194 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022778.2 +1 provisional p.K414N 1.000 230 0% 272 36.4% 0 - probably_damaging(0.96) deleterious(0.02) deleterious(0.786) NULL ZNF683 257101 genome.wustl.edu 37 1 26691674 26691674 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001114759.1 -1 validated p.K121N 0.030 10 0% 21 38.1% 9 0% possibly_damaging(0.602) tolerated(0.2) neutral(0.258) NULL DHDDS 79947 genome.wustl.edu 37 1 26786593 26786593 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000416052 +1 known p.R118* 1.000 125 0% 154 25.3% 9 11.1% - - - HMMPfam_Prenyltransf,superfamily_Undecaprenyl diphosphate synthase ARID1A 8289 genome.wustl.edu 37 1 27087440 27087440 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006015.4 +1 reviewed p.E672* 1.000 299 0% 319 19.4% 6 0% - - - NULL SLC9A1 6548 genome.wustl.edu 37 1 27436163 27436163 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003047.3 -1 validated p.L307I 1.000 16 0% 14 35.7% 17 35.2% benign(0.026) tolerated(0.26) neutral(0.035) HMMPfam_Na_H_Exchanger WDTC1 23038 genome.wustl.edu 37 1 27630278 27630278 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015023.3 +1 validated p.F544L 1.000 103 0% 171 26.9% 47 36.1% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 STX12 23673 genome.wustl.edu 37 1 28144395 28144395 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_177424.2 +1 validated p.D204Y 1.000 52 0% 81 22.2% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNARE,HMMSmart_SM00397,PatternScan_SYNTAXIN,superfamily_t-snare proteins PHACTR4 65979 genome.wustl.edu 37 1 28733920 28733920 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001048183.1 +1 reviewed e1-1 1.000 199 0% 177 27.7% 0 - - - - - PHACTR4 65979 genome.wustl.edu 37 1 28800501 28800501 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023923.3 +1 reviewed p.R430Q 1.000 206 0% 262 30.2% 2 100% probably_damaging(0.999) tolerated(0.18) deleterious(0.546) NULL ZCCHC17 51538 genome.wustl.edu 37 1 31810034 31810034 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016505.2 +1 provisional p.R46Q 1.000 206 0% 186 33.9% 23 39.1% benign(0.304) tolerated(0.27) neutral(0.128) HMMPfam_S1,superfamily_Nucleic acid-binding proteins,HMMSmart_SM00316 PEF1 553115 genome.wustl.edu 37 1 32098226 32098226 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012392.3 -1 reviewed p.K165N 1.000 58 0% 42 19% 57 8.7% possibly_damaging(0.793) deleterious(0.03) deleterious(0.662) HMMSmart_EFh,superfamily_SSF47473 ZBTB8A 653121 genome.wustl.edu 37 1 33065776 33065776 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040441.1 +1 validated p.R361H 1.000 75 0% 74 20.3% 11 72.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CSMD2 114784 genome.wustl.edu 37 1 34174868 34174868 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000373380 -1 known p.L6I 1.000 45 0% 71 33.8% 0 - benign(0.003) deleterious(0) neutral(0.445) NULL C1orf94 84970 genome.wustl.edu 37 1 34666480 34666480 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134734.1 +1 validated p.A373T 0.919 122 0% 166 24.7% 0 - benign(0.026) tolerated(0.06) neutral(0.324) NULL C1orf94 84970 genome.wustl.edu 37 1 34684354 34684354 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134734.1 +1 validated p.N597H 0.124 316 0% 326 27.9% 0 - possibly_damaging(0.81) tolerated(0.21) neutral(0.349) NULL C1orf212 113444 genome.wustl.edu 37 1 35321227 35321227 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138428.5 -1 validated p.N19H 0.679 108 0% 121 29.8% 63 50.7% - - - NULL SFPQ 6421 genome.wustl.edu 37 1 35656461 35656461 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005066.2 -1 validated p.E385* 1.000 96 0% 89 22.5% 97 1% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD CLSPN 63967 genome.wustl.edu 37 1 36215261 36215261 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022111.2 -1 reviewed p.L727R 0.993 173 0% 157 32.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL EIF2C1 26523 genome.wustl.edu 37 1 36358200 36358200 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012199.2 +1 reviewed p.I84 1.000 149 0% 152 23% 0 - - - - superfamily_PAZ domain EIF2C3 192669 genome.wustl.edu 37 1 36479288 36479288 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024852.2 +1 reviewed p.R403W 1.000 217 0% 83 31.3% 1 0% possibly_damaging(0.473) deleterious(0.01) deleterious(0.561) NULL TEKT2 27285 genome.wustl.edu 37 1 36552838 36552838 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014466.2 +1 reviewed p.T261A 0.203 33 0% 31 41.9% 0 - benign(0.208) tolerated(0.39) neutral(0.036) HMMPfam_Tektin OSCP1 127700 genome.wustl.edu 37 1 36888414 36888414 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145047.4 -1 validated p.S245Y 1.000 107 0% 124 27.4% 5 20% probably_damaging(1) tolerated(0.16) deleterious(0.559) NULL SNIP1 79753 genome.wustl.edu 37 1 38018286 38018286 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024700.2 -1 provisional p.R96K 1.000 556 0% 510 28.4% 2 0% possibly_damaging(0.465) tolerated(0.51) neutral(0.162) NULL MACF1 23499 genome.wustl.edu 37 1 39760741 39760741 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012090.3 +1 reviewed p.E731D 1.000 171 0% 125 16% 0 - benign(0) tolerated(0.48) neutral(0.011) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39801022 39801022 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033044.2 +1 reviewed p.S1361Y 0.002 277 0% 198 29.8% 0 - benign(0.293) - - NULL MACF1 23499 genome.wustl.edu 37 1 39896506 39896506 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033044.2 +1 reviewed p.Q4195* 1.000 66 0% 72 26.4% 6 0% - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin MACF1 23499 genome.wustl.edu 37 1 39916753 39916753 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033044.2 +1 reviewed p.F5206C 1.000 195 0% 156 23.7% 13 15.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Spectrin MACF1 23499 genome.wustl.edu 37 1 39924810 39924810 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000360115 +1 known p.L126P 0.985 110 0% 107 35.5% 14 7.1% - - - HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_EF-hand NT5C1A 84618 genome.wustl.edu 37 1 40124831 40124831 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032526.1 -1 provisional p.R357W 0.045 27 0% 21 28.6% 0 - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL PPIE 10450 genome.wustl.edu 37 1 40214723 40214723 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006112.2 +1 reviewed p.F219 0.997 108 0% 144 30.6% 96 42.7% unknown(0) - - HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like MFSD2A 84879 genome.wustl.edu 37 1 40431207 40431207 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001136493.1 +1 validated p.S194Y 1.000 149 0% 186 29% 27 59.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_MFS general substrate transporter CAP1 10487 genome.wustl.edu 37 1 40533227 40533227 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105530.1 +1 reviewed p.E216* 1.000 95 0% 98 17.3% 50 0% - - - HMMPfam_CAP_N,superfamily_N-terminal domain of adenylylcyclase associated protein CAP RLF 6018 genome.wustl.edu 37 1 40702225 40702225 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012421.3 +1 validated p.K617N 1.000 146 0% 129 31.8% 0 - possibly_damaging(0.937) deleterious(0.02) deleterious(0.766) NULL ZMPSTE24 10269 genome.wustl.edu 37 1 40735679 40735679 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005857.3 +1 reviewed p.K169N 1.000 415 0% 449 27.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZMPSTE24 10269 genome.wustl.edu 37 1 40756571 40756571 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005857.3 +1 reviewed p.R369* 1.000 108 0% 86 25.6% 2 0% - - - HMMPfam_Peptidase_M48 SMAP2 64744 genome.wustl.edu 37 1 40878691 40878691 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022733.1 +1 provisional p.E136* 1.000 111 0% 108 27.8% 0 - - - - NULL ZNF643 65243 genome.wustl.edu 37 1 40928144 40928144 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023070.2 +1 validated p.S61L 0.386 410 0% 416 31.7% 1 0% benign(0.002) tolerated(0.5) neutral(0.010) NULL ZNF642 339559 genome.wustl.edu 37 1 40960987 40960987 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198494.2 +1 validated p.I279 0.116 143 0% 121 35.5% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 DEM1 64789 genome.wustl.edu 37 1 40981084 40981084 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022774.1 +1 provisional p.L290V 0.592 177 0% 153 32% 1 100% probably_damaging(0.978) deleterious(0.02) deleterious(0.803) HMMPfam_Morph_protein1 ZNF684 127396 genome.wustl.edu 37 1 41012466 41012466 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152373.3 +1 validated p.N157 0.086 144 0% 156 19.2% 1 100% - - - superfamily_SSF57667 ZNF684 127396 genome.wustl.edu 37 1 41012788 41012788 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152373.3 +1 validated p.H265N 0.997 133 0% 160 22.5% 0 - possibly_damaging(0.845) deleterious(0) deleterious(0.768) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CTPS 1503 genome.wustl.edu 37 1 41475885 41475885 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001905.2 +1 validated p.E582K 0.961 150 0% 98 25.5% 22 13.6% possibly_damaging(0.454) tolerated(0.17) neutral(0.207) NULL HIVEP3 59269 genome.wustl.edu 37 1 42045637 42045637 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024503.3 -1 validated p.Y1611C 1.000 180 0% 95 22.1% 4 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL HIVEP3 59269 genome.wustl.edu 37 1 42046899 42046899 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024503.3 -1 validated p.P1190 0.798 69 1.4% 47 23.4% 0 - - - - NULL HIVEP3 59269 genome.wustl.edu 37 1 42048037 42048037 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024503.3 -1 validated p.S811Y 0.927 130 0% 93 22.6% 0 - possibly_damaging(0.887) deleterious(0.01) deleterious(0.752) NULL HIVEP3 59269 genome.wustl.edu 37 1 42050210 42050210 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024503.3 -1 validated p.E87K 0.246 224 0% 174 20.1% 0 - benign(0.029) tolerated(0.44) neutral(0.014) NULL FOXJ3 22887 genome.wustl.edu 37 1 42655024 42655024 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014947.3 -1 validated p.R468Q 1.000 131 0% 96 26% 3 33.3% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL RIMKLA 284716 genome.wustl.edu 37 1 42880269 42880269 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173642.3 +1 validated p.G267D 1.000 395 0% 298 28.2% 24 45.8% possibly_damaging(0.827) tolerated(0.14) deleterious(0.564) HMMPfam_RimK,superfamily_SSF56059 PPCS 79717 genome.wustl.edu 37 1 42922918 42922918 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024664.2 +1 validated p.G170D 1.000 214 0% 203 26.1% 79 51.8% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_DFP,superfamily_DNA/pantothenate-metab_flavo_C CCDC30 728621 genome.wustl.edu 37 1 43032078 43032078 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080850.2 +1 validated p.R263* 0.978 232 0% 228 33.8% 1 0% - - - NULL CCDC30 728621 genome.wustl.edu 37 1 43047141 43047141 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080850.2 +1 validated p.N392K 0.983 190 0% 194 29.4% 0 - probably_damaging(0.998) tolerated(0.65) deleterious(0.477) NULL CCDC30 728621 genome.wustl.edu 37 1 43119050 43119050 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080850.2 +1 validated p.T693A 0.996 83 0% 90 26.7% 3 0% possibly_damaging(0.478) tolerated(0.36) neutral(0.178) NULL ERMAP 114625 genome.wustl.edu 37 1 43308805 43308805 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001017922.1 +1 reviewed p.L444V 0.632 257 0% 258 35.3% 2 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL PTPRF 5792 genome.wustl.edu 37 1 44085815 44085815 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002840.3 +1 reviewed p.E1721K 1.000 84 0% 95 29.5% 79 31.6% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II KDM4A 9682 genome.wustl.edu 37 1 44149410 44149410 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014663.2 +1 reviewed p.R597H 0.995 101 0% 109 19.3% 3 33.3% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL KDM4A 9682 genome.wustl.edu 37 1 44169919 44169919 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014663.2 +1 reviewed p.R1025C 1.000 188 0% 93 18.3% 10 80% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DPH2 1802 genome.wustl.edu 37 1 44436347 44436347 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001384.4 +1 reviewed p.K76T 1.000 122 0% 189 33.3% 23 60.8% possibly_damaging(0.918) tolerated(0.12) deleterious(0.629) HMMPfam_Diphthamide_syn RPS8 6202 genome.wustl.edu 37 1 45243294 45243294 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001012.1 +1 reviewed p.R74C 0.928 53 0% 68 11.8% 7378 8.1% possibly_damaging(0.785) deleterious(0.03) deleterious(0.658) HMMPfam_Ribosomal_S8e NASP 4678 genome.wustl.edu 37 1 46080686 46080686 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_172164.1 +1 reviewed p.E558D 0.992 95 0% 67 25.4% 154 40.2% benign(0.012) tolerated(0.07) neutral(0.320) HMMPfam_SHNi-TPR,HMMSmart_TPR,superfamily_SSF48452 MAST2 23139 genome.wustl.edu 37 1 46497895 46497895 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015112.2 +1 validated p.S1078Y 1.000 166 0% 137 35% 36 44.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MKNK1 8569 genome.wustl.edu 37 1 47059838 47059838 + RNA SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NR_024174.1 -1 validated NULL 0.016 155 0% 177 27.1% 1 100% unknown(0) - - - KIAA0494 9813 genome.wustl.edu 37 1 47181973 47181973 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014774.2 -1 validated p.R110* 0.928 106 0% 73 43.8% 1 0% - - - NULL CYP4A11 1579 genome.wustl.edu 37 1 47401293 47401293 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000778.3 -1 reviewed p.Q179H 0.000 188 0% 174 28.7% 0 - probably_damaging(0.959) deleterious(0.01) deleterious(0.808) HMMPfam_p450,superfamily_Cytochrome P450 CYP4Z1 199974 genome.wustl.edu 37 1 47564779 47564779 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178134.2 +1 reviewed p.K297R 0.544 334 0% 285 28.4% 0 - benign(0.044) tolerated(0.22) neutral(0.045) HMMPfam_p450,superfamily_Cytochrome_P450 SPATA6 54558 genome.wustl.edu 37 1 48825413 48825413 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019073.1 -1 provisional p.F313 0.003 159 0% 149 25.5% 0 - - - - NULL AGBL4 84871 genome.wustl.edu 37 1 49052790 49052790 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032785.3 -1 validated p.R385C 1.000 11 0% 11 36.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases AGBL4 84871 genome.wustl.edu 37 1 49056628 49056628 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000416121 -1 known p.S173F 1.000 18 0% 37 32.4% 0 - - - - HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases EPS15 2060 genome.wustl.edu 37 1 51829598 51829598 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001981.2 -1 reviewed p.E767* 0.987 77 0% 82 20.7% 12 0% - - - NULL EPS15 2060 genome.wustl.edu 37 1 51871770 51871770 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001981.2 -1 reviewed p.K495T 0.998 110 0% 75 25.3% 1 0% possibly_damaging(0.947) deleterious(0.04) deleterious(0.740) NULL NRD1 4898 genome.wustl.edu 37 1 52277686 52277686 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002525.2 -1 validated p.L655I 0.997 168 0% 161 28.6% 10 40% benign(0.406) tolerated(0.13) neutral(0.383) NULL NRD1 4898 genome.wustl.edu 37 1 52344035 52344035 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002525.2 -1 validated p.E85* 1.000 30 0% 45 35.6% 3 33.3% - - - NULL TXNDC12 51060 genome.wustl.edu 37 1 52492952 52492952 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015913.2 -1 provisional p.L94I 1.000 127 0% 162 22.2% 7 42.8% benign(0.022) tolerated(0.23) neutral(0.043) superfamily_Thioredoxin-like ZFYVE9 9372 genome.wustl.edu 37 1 52704348 52704348 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004799.2 +1 reviewed p.E420G 0.993 365 0% 249 30.5% 2 100% benign(0) deleterious(0) neutral(0.445) NULL ZFYVE9 9372 genome.wustl.edu 37 1 52744180 52744180 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004799.2 +1 reviewed p.E921D 0.999 195 0% 188 27.7% 2 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL ZCCHC11 23318 genome.wustl.edu 37 1 52911940 52911940 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001009881.1 -1 validated p.E1230* 1.000 448 0% 316 26.3% 0 - - - - HMMPfam_PAP_assoc,superfamily_PAP/OAS1 substrate-binding domain SCP2 6342 genome.wustl.edu 37 1 53440482 53440482 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002979.3 +1 reviewed p.H189N 1.000 171 0% 123 22% 2 100% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Thiolase_N,superfamily_Thiolase-like MAGOH 4116 genome.wustl.edu 37 1 53694615 53694615 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002370.2 -1 reviewed p.I90 0.353 48 0% 59 25.4% 96 31.2% - - - HMMPfam_Mago_nashi,superfamily_Mago nashi protein DMRTB1 63948 genome.wustl.edu 37 1 53930513 53930513 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033067.1 +1 provisional p.E318D 0.005 62 0% 42 31% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DIO1 1733 genome.wustl.edu 37 1 54375643 54375643 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039715.1 +1 reviewed p.R193C 0.990 203 0% 189 30.7% 0 - benign(0.175) deleterious(0.05) neutral(0.361) HMMPfam_T4_deiodinase TMEM59 9528 genome.wustl.edu 37 1 54512985 54512985 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004872.3 -1 provisional p.D84N 1.000 186 0% 159 22.6% 144 37.5% possibly_damaging(0.848) tolerated(0.65) neutral(0.329) NULL FAM151A 338094 genome.wustl.edu 37 1 55075342 55075342 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176782.2 -1 validated p.S453P 0.000 35 0% 42 23.8% 4 25% benign(0.011) tolerated(0.34) neutral(0.024) NULL HEATR8 374977 genome.wustl.edu 37 1 55144524 55144524 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039464.2 +1 validated p.I682 0.885 69 0% 50 28% 0 - - - - superfamily_ARM repeat C8A 731 genome.wustl.edu 37 1 57320598 57320598 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000562.2 +1 reviewed p.I8 0.102 70 0% 67 28.4% 0 - - - - NULL OMA1 115209 genome.wustl.edu 37 1 59004716 59004716 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145243.3 -1 provisional p.S84I 0.005 536 0% 359 23.1% 1 100% benign(0.422) deleterious(0) deleterious(0.582) NULL CYP2J2 1573 genome.wustl.edu 37 1 60370622 60370622 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000775.2 -1 reviewed p.R371I 1.000 94 0% 115 31.3% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2J2 1573 genome.wustl.edu 37 1 60375467 60375467 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000775.2 -1 reviewed p.E284* 0.997 118 0% 175 29.7% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 C1orf87 127795 genome.wustl.edu 37 1 60456397 60456397 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152377.1 -1 predicted p.S530L 0.000 597 0.2% 609 26.8% 0 - benign(0) tolerated(0.08) neutral(0.300) NULL L1TD1 54596 genome.wustl.edu 37 1 62672456 62672456 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019079.4 +1 validated p.M52I 0.046 50 0% 41 36.6% 0 - unknown(0) deleterious(0) - NULL L1TD1 54596 genome.wustl.edu 37 1 62672573 62672573 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019079.4 +1 validated p.K91N 0.002 89 0% 97 25.8% 0 - unknown(0) deleterious(0) - NULL DOCK7 85440 genome.wustl.edu 37 1 62941527 62941527 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033407.2 -1 validated p.L1907I 1.000 339 0% 318 27.7% 24 29.1% possibly_damaging(0.68) tolerated(0.89) neutral(0.242) HMMPfam_Ded_cyto DOCK7 85440 genome.wustl.edu 37 1 62995108 62995108 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000454575 -1 known p.I379V 1.000 249 0% 210 29.5% 3 0% - - - NULL ATG4C 84938 genome.wustl.edu 37 1 63282317 63282317 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032852.2 +1 reviewed p.E78* 1.000 208 0% 151 32.5% 0 - - - - HMMPfam_Peptidase_C54 EFCAB7 84455 genome.wustl.edu 37 1 64022790 64022790 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032437.2 +1 validated p.T407N 0.773 124 0% 123 22.8% 1 0% possibly_damaging(0.667) deleterious(0.01) deleterious(0.641) HMMSmart_SM00054,superfamily_EF-hand JAK1 3716 genome.wustl.edu 37 1 65313267 65313267 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002227.2 -1 reviewed p.K616T 1.000 129 0% 96 31.2% 6 16.6% benign(0.045) deleterious(0.01) neutral(0.408) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like DNAJC6 9829 genome.wustl.edu 37 1 65831791 65831791 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014787.2 +1 validated p.R95Q 1.000 713 0.1% 572 35.5% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_(Phosphotyrosine protein) phosphatases II DNAJC6 9829 genome.wustl.edu 37 1 65849987 65849987 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014787.2 +1 validated p.G203* 0.999 137 0% 93 23.7% 0 - - - - superfamily_(Phosphotyrosine protein) phosphatases II LEPR 3953 genome.wustl.edu 37 1 66091823 66091823 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000371058 +1 known p.K897N 0.000 80 0% 83 19.3% 0 - benign(0.003) deleterious(0.03) neutral(0.364) NULL LEPR 3953 genome.wustl.edu 37 1 66102268 66102268 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002303.4 +1 reviewed p.S1023Y 0.712 264 0% 279 31.9% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL PDE4B 5142 genome.wustl.edu 37 1 66458608 66458608 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037340.1 +1 reviewed p.S7P 1.000 128 0% 97 28.9% 0 - benign(0.019) tolerated(0.49) neutral(0.011) NULL PDE4B 5142 genome.wustl.edu 37 1 66458791 66458791 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037340.1 +1 reviewed p.R68W 1.000 169 0% 113 34.5% 0 - possibly_damaging(0.916) deleterious(0) deleterious(0.811) NULL PDE4B 5142 genome.wustl.edu 37 1 66828886 66828886 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037341.1 +1 reviewed p.I352 1.000 123 0% 93 30.1% 0 - - - - superfamily_HD-domain/PDEase-like SGIP1 84251 genome.wustl.edu 37 1 67161059 67161059 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000435165 +1 known p.S10P 1.000 99 0% 76 17.1% 0 - benign(0) tolerated(1) - NULL WDR78 79819 genome.wustl.edu 37 1 67356900 67356900 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024763.4 -1 validated p.E194* 0.992 390 0% 288 26.7% 0 - - - - NULL C1orf141 400757 genome.wustl.edu 37 1 67561962 67561962 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013674.1 -1 predicted p.G130D 0.000 34 0% 53 11.3% 0 - possibly_damaging(0.899) tolerated(0.74) neutral(0.357) NULL C1orf141 400757 genome.wustl.edu 37 1 67592873 67592873 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013674.1 -1 predicted p.E17D 0.000 288 0% 187 11.8% 0 - possibly_damaging(0.484) tolerated(0.11) neutral(0.432) NULL IL23R 149233 genome.wustl.edu 37 1 67705928 67705928 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144701.2 +1 reviewed p.S371Y 0.979 158 0% 150 25.3% 0 - possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL IL12RB2 3595 genome.wustl.edu 37 1 67838206 67838206 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001559.2 +1 reviewed p.S516Y 0.000 369 0% 281 26% 0 - possibly_damaging(0.76) deleterious(0.02) deleterious(0.664) NULL SERBP1 26135 genome.wustl.edu 37 1 67890630 67890630 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001018067.1 -1 validated p.H212 0.553 244 0% 249 34.1% 97 57.7% - - - HMMPfam_HABP4_PAI-RBP1 GNG12 55970 genome.wustl.edu 37 1 68171255 68171255 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018841.4 -1 validated p.S33L 1.000 121 0% 88 12.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Transducin (heterotrimeric G protein) gamma chain WLS 79971 genome.wustl.edu 37 1 68564388 68564388 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001002292.2 -1 validated p.S520L 0.001 206 0% 135 34.1% 18 33.3% benign(0.429) deleterious(0) deleterious(0.584) NULL RPE65 6121 genome.wustl.edu 37 1 68897175 68897175 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000329.2 -1 reviewed p.L408I 1.000 110 0% 106 59.4% 0 - benign(0.003) tolerated(0.05) neutral(0.345) HMMPfam_RPE65 RPE65 6121 genome.wustl.edu 37 1 68910232 68910232 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000329.2 -1 reviewed p.T159 0.971 319 0% 254 11% 0 - - - - HMMPfam_RPE65 LRRC7 57554 genome.wustl.edu 37 1 70257822 70257822 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020794.2 +1 validated p.E96* 1.000 407 0% 267 29.2% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_L domain-like LRRC7 57554 genome.wustl.edu 37 1 70452064 70452064 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020794.2 +1 validated p.S271Y 0.999 82 0% 43 34.9% 0 - benign(0.376) deleterious(0) deleterious(0.565) HMMSmart_SM00369,HMMSmart_SM00364,superfamily_RNI-like,superfamily_L domain-like LRRC7 57554 genome.wustl.edu 37 1 70504011 70504011 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020794.2 +1 validated p.S797L 0.980 194 0% 198 26.3% 0 - possibly_damaging(0.614) deleterious(0) deleterious(0.657) NULL LRRC7 57554 genome.wustl.edu 37 1 70504227 70504227 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020794.2 +1 validated p.S869I 1.000 258 0% 230 24.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRC40 55631 genome.wustl.edu 37 1 70639162 70639162 + Missense_Mutation SNP C C T rs138941894 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017768.4 -1 validated p.R366Q 0.998 130 0% 85 29.4% 4 25% possibly_damaging(0.47) tolerated(0.23) neutral(0.197) NULL ANKRD13C 81573 genome.wustl.edu 37 1 70771958 70771958 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030816.4 -1 validated p.R242Q 1.000 168 0% 115 26.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Ankyrin repeat LOC100132618 100132618 genome.wustl.edu 37 1 71532727 71532727 + RNA SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_078226.1 +1 model NULL 0.001 52 0% 71 28.2% 0 - - - - - NEGR1 257194 genome.wustl.edu 37 1 72241878 72241878 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173808.2 -1 validated p.S171Y 1.000 49 0% 36 22.2% 0 - possibly_damaging(0.911) deleterious(0) deleterious(0.807) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 LRRIQ3 127255 genome.wustl.edu 37 1 74492498 74492498 + Nonstop_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105659.1 -1 provisional p.*625L 0.006 141 0% 114 27.2% 0 - - - - NULL LRRIQ3 127255 genome.wustl.edu 37 1 74540475 74540475 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105659.1 -1 provisional e5-1 0.998 90 0% 73 11% 0 - - - - - FPGT 8790 genome.wustl.edu 37 1 74671207 74671207 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003838.2 +1 reviewed p.F492L 1.000 157 0% 174 31% 2 50% possibly_damaging(0.543) tolerated(0.65) neutral(0.187) HMMPfam_Fucokinase TNNI3K 51086 genome.wustl.edu 37 1 74901774 74901774 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001112808.1 +1 validated p.L696I 1.000 119 0% 120 25% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) C1orf173 127254 genome.wustl.edu 37 1 75038568 75038568 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001002912.4 -1 validated p.V942 0.000 496 0% 404 31.7% 3 0% - - - NULL C1orf173 127254 genome.wustl.edu 37 1 75039159 75039159 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001002912.4 -1 validated p.F745L 0.000 304 0% 262 30.9% 6 16.6% benign(0) deleterious(0) neutral(0.445) NULL SLC44A5 204962 genome.wustl.edu 37 1 75684294 75684294 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152697.4 -1 validated p.F470 0.995 248 0.4% 199 31.7% 0 - - - - HMMPfam_DUF580 ACADM 34 genome.wustl.edu 37 1 76215151 76215151 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127328.1 +1 reviewed p.F256 1.000 289 0% 326 26.1% 3 0% - - - superfamily_Acyl-CoA dehydrogenase NM domain-like ACADM 34 genome.wustl.edu 37 1 76228408 76228408 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127328.1 +1 reviewed p.L413R 1.000 50 0% 49 26.5% 2 0% possibly_damaging(0.827) deleterious(0) deleterious(0.758) HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like MSH4 4438 genome.wustl.edu 37 1 76343991 76343991 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002440.2 +1 validated p.D510Y 1.000 120 0% 70 28.6% 0 - possibly_damaging(0.87) deleterious(0.03) deleterious(0.703) HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII,HMMPfam_MutS_IV MSH4 4438 genome.wustl.edu 37 1 76355016 76355016 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002440.2 +1 validated p.E730K 1.000 206 0% 115 20% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_MutS_V,HMMSmart_MUTSac,superfamily_SSF52540 MSH4 4438 genome.wustl.edu 37 1 76355054 76355054 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002440.2 +1 validated p.E742D 1.000 248 0% 140 17.1% 0 - possibly_damaging(0.903) tolerated(0.2) neutral(0.407) HMMPfam_MutS_V,HMMSmart_MUTSac,superfamily_SSF52540 MSH4 4438 genome.wustl.edu 37 1 76356455 76356455 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002440.2 +1 validated p.T767 0.978 164 0% 84 28.6% 0 - - - - HMMPfam_MutS_V,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2,superfamily_SSF52540 PIGK 10026 genome.wustl.edu 37 1 77632504 77632504 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005482.2 -1 reviewed p.E129D 1.000 139 0% 117 22.2% 7 28.5% possibly_damaging(0.933) deleterious(0.05) deleterious(0.724) HMMPfam_Peptidase_C13 USP33 23032 genome.wustl.edu 37 1 78195562 78195562 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015017.3 -1 validated p.R265W 1.000 360 0% 441 20.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases USP33 23032 genome.wustl.edu 37 1 78207369 78207369 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015017.3 -1 validated p.R36Q 0.997 71 0% 95 32.6% 0 - possibly_damaging(0.516) tolerated(0.05) deleterious(0.519) NULL FAM73A 374986 genome.wustl.edu 37 1 78267104 78267104 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198549.2 +1 predicted p.R95I 1.000 133 0% 94 28.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DUF2217 FAM73A 374986 genome.wustl.edu 37 1 78326966 78326966 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198549.2 +1 predicted p.D445N 1.000 144 0% 129 31% 0 - possibly_damaging(0.893) tolerated(0.34) neutral(0.375) HMMPfam_DUF2217 GIPC2 54810 genome.wustl.edu 37 1 78560637 78560637 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017655.4 +1 validated p.R143K 1.000 164 0% 179 29.1% 0 - possibly_damaging(0.601) tolerated(0.15) neutral(0.449) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ PTGFR 5737 genome.wustl.edu 37 1 79002177 79002177 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000959.3 +1 reviewed p.W295* 1.000 268 0% 236 31.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 IFI44 10561 genome.wustl.edu 37 1 79125147 79125147 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006417.4 +1 validated p.R331* 0.216 67 0% 80 26.3% 40 15% - - - superfamily_SSF52540 ENSG00000249107 0 genome.wustl.edu 37 1 79128796 79128796 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000513923 -1 known NULL 0.002 37 0% 26 15.4% 1 100% - - - - LPHN2 23266 genome.wustl.edu 37 1 82416074 82416074 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012302.2 +1 reviewed p.R467I 1.000 213 0% 157 35.7% 2 0% benign(0.148) tolerated(0.12) neutral(0.274) HMMPfam_HRM,HMMSmart_SM00008 LPHN2 23266 genome.wustl.edu 37 1 82452695 82452695 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000370717 +1 known p.P1218S 1.000 153 0% 130 29.2% 13 46.1% benign(0.223) tolerated(0.28) neutral(0.053) HMMPfam_Latrophilin TTLL7 79739 genome.wustl.edu 37 1 84376927 84376927 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024686.4 -1 validated p.E569D 0.085 310 0% 312 25.6% 0 - benign(0.032) tolerated(0.51) neutral(0.010) NULL TTLL7 79739 genome.wustl.edu 37 1 84399394 84399394 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024686.4 -1 validated p.R315Q 1.000 375 0% 257 28.8% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like TTLL7 79739 genome.wustl.edu 37 1 84414376 84414376 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024686.4 -1 validated p.R94S 1.000 262 0% 184 27.2% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_TTL PRKACB 5567 genome.wustl.edu 37 1 84700971 84700971 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182948.2 +1 reviewed p.E394* 1.000 227 0% 189 22.2% 1 0% - - - HMMSmart_S_TK_X,superfamily_Kinase_like DNASE2B 58511 genome.wustl.edu 37 1 84864256 84864256 + Missense_Mutation SNP G G T rs3738573 byCluster;byFrequency;byHapMap;by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021233.2 +1 reviewed p.Q3H 0.888 209 0% 162 27.8% 0 - benign(0.258) tolerated(0.59) neutral(0.032) NULL SSX2IP 117178 genome.wustl.edu 37 1 85135571 85135571 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014021.3 -1 reviewed p.L73F 1.000 151 0% 114 33.3% 1 0% possibly_damaging(0.775) deleterious(0.01) deleterious(0.694) NULL WDR63 126820 genome.wustl.edu 37 1 85564246 85564246 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145172.3 +1 validated p.E462* 0.995 253 0% 220 22.7% 0 - - - - superfamily_WD40 repeat-like WDR63 126820 genome.wustl.edu 37 1 85598628 85598628 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145172.3 +1 validated p.N875D 0.000 464 0% 439 29.4% 0 - benign(0) tolerated(0.7) neutral(0.002) NULL SYDE2 84144 genome.wustl.edu 37 1 85648150 85648150 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032184.1 -1 validated p.F725L 1.000 98 0% 95 25.3% 0 - probably_damaging(0.974) deleterious(0.02) deleterious(0.799) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ODF2L 57489 genome.wustl.edu 37 1 86838114 86838114 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020729.2 -1 validated p.K307T 1.000 26 0% 20 35% 0 - benign(0.036) tolerated(0.21) neutral(0.046) NULL ODF2L 57489 genome.wustl.edu 37 1 86848643 86848643 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020729.2 -1 validated p.E160* 1.000 148 0% 147 29.9% 0 - - - - NULL CLCA2 9635 genome.wustl.edu 37 1 86919247 86919247 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006536.5 +1 reviewed p.S784Y 0.971 158 0% 138 22.5% 0 - possibly_damaging(0.946) deleterious(0) deleterious(0.835) NULL HS2ST1 9653 genome.wustl.edu 37 1 87570349 87570349 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012262.3 +1 reviewed p.F347L 1.000 141 0% 98 36.7% 1 0% benign(0.181) tolerated(0.2) neutral(0.066) HMMPfam_HS2ST GBP1 2633 genome.wustl.edu 37 1 89523708 89523708 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002053.2 -1 validated p.T281P 0.043 238 0% 181 18.2% 26 26.9% possibly_damaging(0.71) deleterious(0) deleterious(0.701) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases GBP5 115362 genome.wustl.edu 37 1 89727906 89727906 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134486.1 -1 validated p.M548I 0.023 226 0% 178 28.1% 581 50.4% benign(0.002) tolerated(0.07) neutral(0.319) HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain GBP6 163351 genome.wustl.edu 37 1 89834262 89834262 + Missense_Mutation SNP A A G rs113354221 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198460.2 +1 validated p.K51R 1.000 165 0% 260 23.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases LRRC8D 55144 genome.wustl.edu 37 1 90398988 90398988 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134479.1 +1 validated p.A121T 0.912 140 0% 79 25.3% 4 0% benign(0) tolerated(0.74) neutral(0.002) NULL LRRC8D 55144 genome.wustl.edu 37 1 90400449 90400449 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134479.1 +1 validated p.D608Y 1.000 187 0% 113 34.5% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52058 ZNF644 84146 genome.wustl.edu 37 1 91406768 91406768 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_201269.1 -1 validated p.F48C 1.000 214 0.5% 195 23.6% 0 - benign(0.304) deleterious(0) deleterious(0.539) NULL HFM1 164045 genome.wustl.edu 37 1 91782010 91782010 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001017975.3 -1 validated p.V946I 1.000 184 0% 203 25.1% 0 - possibly_damaging(0.932) tolerated(0.28) neutral(0.410) HMMPfam_Sec63 HFM1 164045 genome.wustl.edu 37 1 91784640 91784640 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001017975.3 -1 validated p.K936R 1.000 140 0% 139 44.6% 0 - possibly_damaging(0.541) tolerated(0.51) neutral(0.193) HMMPfam_Sec63 HFM1 164045 genome.wustl.edu 37 1 91788537 91788537 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000430465 -1 known p.E107* 0.983 80 0% 89 33.7% 0 - possibly_damaging(0.862) tolerated(0.1) deleterious(0.619) HMMPfam_Sec63 HFM1 164045 genome.wustl.edu 37 1 91788697 91788697 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001017975.3 -1 validated p.K829N 1.000 299 0% 281 18.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Sec63 TGFBR3 7049 genome.wustl.edu 37 1 92185461 92185461 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003243.3 -1 validated p.D468Y 1.000 262 0% 193 32.6% 0 - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_Zona_pellucida,HMMSmart_ZP BRDT 676 genome.wustl.edu 37 1 92441951 92441951 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001726.3 +1 validated p.V192L 0.001 166 0% 176 36.4% 0 - benign(0) tolerated(0.29) neutral(0.029) NULL BRDT 676 genome.wustl.edu 37 1 92442825 92442825 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001726.3 +1 validated p.E282* 1.000 183 0% 163 27% 0 - - - - HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain BRDT 676 genome.wustl.edu 37 1 92445135 92445135 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001726.3 +1 validated p.E370K 1.000 188 0% 157 28% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00297,superfamily_Bromodomain BRDT 676 genome.wustl.edu 37 1 92446229 92446229 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001726.3 +1 validated p.V439 0.999 221 0% 142 24.6% 0 - - - - NULL BRDT 676 genome.wustl.edu 37 1 92459751 92459751 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001726.3 +1 validated p.E743* 0.089 227 0% 192 32.3% 0 - - - - NULL EPHX4 253152 genome.wustl.edu 37 1 92518203 92518203 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173567.4 +1 validated p.R282Q 1.000 82 0% 69 36.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Abhydrolase_1,superfamily_SSF53474 EPHX4 253152 genome.wustl.edu 37 1 92528711 92528711 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173567.4 +1 validated p.K319N 1.000 180 0% 172 20.9% 0 - benign(0.025) tolerated(0.46) neutral(0.013) HMMPfam_Abhydrolase_1,superfamily_SSF53474 GLMN 11146 genome.wustl.edu 37 1 92757001 92757001 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_053274.2 -1 reviewed p.F87V 0.971 104 0% 110 29.1% 1 0% benign(0.291) tolerated(0.52) neutral(0.098) HMMPfam_FKBP12 RPAP2 79871 genome.wustl.edu 37 1 92789026 92789026 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000370343 +1 known p.Q183 0.993 259 0% 207 32.9% 2 0% - - - NULL RPAP2 79871 genome.wustl.edu 37 1 92798995 92798995 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000370343 +1 known p.I501 1.000 147 0% 123 18.7% 8 37.5% - - - NULL GFI1 2672 genome.wustl.edu 37 1 92941620 92941620 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127215.1 -1 reviewed p.R412Q 1.000 26 0% 24 25% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FAM69A 388650 genome.wustl.edu 37 1 93312771 93312771 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001006605.3 -1 reviewed p.K148T 1.000 77 0% 57 29.8% 0 - probably_damaging(0.985) tolerated(0.07) deleterious(0.751) NULL CCDC18 343099 genome.wustl.edu 37 1 93724417 93724417 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_206886.2 +1 validated p.S1338Y 1.000 203 0% 155 27.1% 0 - possibly_damaging(0.449) tolerated(0.05) deleterious(0.492) NULL FNBP1L 54874 genome.wustl.edu 37 1 94000411 94000411 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000271234 +1 known p.K312N 1.000 43 0% 28 32.1% 4 0% possibly_damaging(0.787) deleterious(0.04) deleterious(0.643) NULL DNTTIP2 30836 genome.wustl.edu 37 1 94341981 94341981 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014597.3 -1 provisional p.Y504H 1.000 117 0% 94 24.5% 16 56.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ABCA4 24 genome.wustl.edu 37 1 94490534 94490534 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000350.2 -1 reviewed p.T1537M 1.000 156 0% 104 26% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ABCA4 24 genome.wustl.edu 37 1 94543416 94543416 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000350.2 -1 reviewed p.D462Y 0.725 668 0% 645 27.9% 0 - benign(0.091) tolerated(1) neutral(0.006) NULL ABCA4 24 genome.wustl.edu 37 1 94574170 94574170 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000350.2 -1 reviewed p.F135L 0.949 117 0% 98 18.4% 0 - benign(0) tolerated(1) - NULL ARHGAP29 9411 genome.wustl.edu 37 1 94652061 94652061 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004815.3 -1 validated p.E592* 1.000 414 0% 382 37.4% 0 - - - - superfamily_Cysteine-rich domain ABCD3 5825 genome.wustl.edu 37 1 94944095 94944095 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001122674.1 +1 reviewed p.L234V 0.004 39 0% 30 23.3% 1 0% benign(0.05) deleterious(0.02) neutral(0.386) NULL F3 2152 genome.wustl.edu 37 1 95005894 95005894 + Nonsense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001993.4 -1 reviewed p.L44* 0.993 106 0% 52 28.8% 2 0% - - - HMMPfam_Tissue_fac,superfamily_FN_III-like TMEM56 148534 genome.wustl.edu 37 1 95657350 95657350 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152487.2 +1 validated p.G240C 1.000 296 0% 282 30.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00724 RWDD3 25950 genome.wustl.edu 37 1 95710036 95710036 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015485.4 +1 validated p.E119K 0.117 196 0% 178 31.5% 5 40% benign(0.411) tolerated(0.11) neutral(0.405) superfamily_UBC-like DPYD 1806 genome.wustl.edu 37 1 97770921 97770921 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000110.3 -1 reviewed p.G731 0.685 177 0% 190 30.5% 7 14.2% - - - HMMPfam_DHO_dh,superfamily_SSF51395 LPPR4 9890 genome.wustl.edu 37 1 99771368 99771368 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014839.4 +1 reviewed p.S365I 0.985 316 0% 236 30.5% 0 - benign(0.123) deleterious(0.01) neutral(0.416) NULL PALMD 54873 genome.wustl.edu 37 1 100155306 100155306 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017734.4 +1 validated p.K497T 0.028 209 0% 232 24.1% 21 66.6% benign(0) deleterious(0.02) neutral(0.383) NULL SLC35A3 23443 genome.wustl.edu 37 1 100459210 100459210 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012243.1 +1 provisional p.G34* 1.000 316 0% 275 26.2% 1 0% - - - NULL VCAM1 7412 genome.wustl.edu 37 1 101200264 101200264 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001078.2 +1 reviewed p.E667* 0.136 212 0.5% 207 25.1% 3 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin S1PR1 1901 genome.wustl.edu 37 1 101705689 101705689 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000424264 +1 known p.R366I 0.847 115 0% 68 23.5% 5 0% - - - NULL OLFM3 118427 genome.wustl.edu 37 1 102270432 102270432 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_058170.2 -1 validated p.R247C 1.000 190 0% 180 31.1% 0 - possibly_damaging(0.836) tolerated(0.07) deleterious(0.639) HMMPfam_OLF,HMMSmart_SM00284 COL11A1 1301 genome.wustl.edu 37 1 103470019 103470019 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080629.2 -1 reviewed p.R654I 1.000 104 0% 54 40.7% 0 - possibly_damaging(0.847) deleterious(0.01) deleterious(0.731) HMMPfam_Collagen COL11A1 1301 genome.wustl.edu 37 1 103484391 103484391 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080629.2 -1 reviewed p.G457* 1.000 171 0% 110 32.7% 0 - - - - HMMPfam_Collagen PRMT6 55170 genome.wustl.edu 37 1 107600414 107600414 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018137.2 +1 validated p.Y300* 1.000 28 0% 27 44.4% 3 100% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases HENMT1 113802 genome.wustl.edu 37 1 109193685 109193685 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001102592.1 -1 validated p.K182T 0.996 291 0% 198 27.8% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF53335 PRPF38B 55119 genome.wustl.edu 37 1 109241963 109241963 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018061.2 +1 validated p.I321T 0.691 300 0% 238 39.9% 27 33.3% unknown(0) tolerated(0.78) - NULL FNDC7 163479 genome.wustl.edu 37 1 109270458 109270458 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000370019 +1 known p.P353L 0.000 261 0.4% 196 32.1% 0 - - - - HMMSmart_SM00060,superfamily_Fibronectin type III GPSM2 29899 genome.wustl.edu 37 1 109461400 109461400 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013296.4 +1 validated p.N477H 0.020 217 0.5% 154 10.4% 4 100% benign(0) tolerated(0.13) neutral(0.253) NULL AHCYL1 10768 genome.wustl.edu 37 1 110559066 110559066 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006621.4 +1 validated p.E295* 1.000 193 0% 97 40.2% 7 14.2% - - - HMMPfam_AdoHcyase,HMMPfam_AdoHcyase_NAD,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Formate/glycerate dehydrogenase catalytic domain-like KCNA3 3738 genome.wustl.edu 37 1 111215836 111215836 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002232.3 -1 reviewed p.I532 0.990 171 0.6% 77 14.3% 0 - - - - NULL KCNA3 3738 genome.wustl.edu 37 1 111215979 111215979 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002232.3 -1 reviewed p.Y485H 1.000 164 0% 68 10.3% 0 - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) superfamily_SSF81324 CEPT1 10390 genome.wustl.edu 37 1 111724893 111724893 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001007794.1 +1 reviewed p.R267C 1.000 193 0% 108 44.4% 2 50% benign(0.011) tolerated(0.18) neutral(0.057) NULL ST7L 54879 genome.wustl.edu 37 1 113126649 113126649 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017744.4 -1 reviewed p.I267M 1.000 187 0% 124 33.1% 0 - probably_damaging(0.978) tolerated(0.23) neutral(0.462) HMMPfam_ST7 LRIG2 9860 genome.wustl.edu 37 1 113636067 113636067 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014813.1 +1 provisional p.I132 1.000 126 0% 85 32.9% 0 - - - - superfamily_SSF52047 LRIG2 9860 genome.wustl.edu 37 1 113653131 113653131 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014813.1 +1 provisional p.V582A 1.000 121 0% 68 19.1% 0 - benign(0.015) tolerated(0.09) neutral(0.297) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 RSBN1 54665 genome.wustl.edu 37 1 114340491 114340491 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018364.3 -1 validated p.E291* 1.000 574 0% 481 40.5% 2 0% - - - NULL PTPN22 26191 genome.wustl.edu 37 1 114372580 114372580 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015967.4 -1 reviewed p.D709N 1.000 128 0% 108 39.8% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL AP4B1 10717 genome.wustl.edu 37 1 114444458 114444458 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006594.2 -1 validated p.R130W 1.000 216 0% 185 36.2% 10 80% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Adaptin_N,superfamily_ARM-type_fold HIPK1 204851 genome.wustl.edu 37 1 114499868 114499868 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198268.1 +1 reviewed p.T572I 1.000 136 0% 96 33.3% 2 100% possibly_damaging(0.858) deleterious(0.02) deleterious(0.714) NULL SYT6 148281 genome.wustl.edu 37 1 114641717 114641717 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_205848.2 -1 validated p.R370* 0.815 405 0% 301 38.2% 0 - - - - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB TRIM33 51592 genome.wustl.edu 37 1 114952919 114952919 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015906.3 -1 reviewed p.S694N 1.000 151 0% 133 33.8% 0 - probably_damaging(0.99) tolerated(0.16) deleterious(0.501) NULL DENND2C 163259 genome.wustl.edu 37 1 115130393 115130393 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198459.3 -1 validated p.T814N 1.000 125 0% 117 31.6% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_dDENN,HMMSmart_dDENN CSDE1 7812 genome.wustl.edu 37 1 115262355 115262355 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130523.1 -1 validated p.F702L 1.000 203 0.5% 106 33% 127 25.1% probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_CSD,HMMSmart_SM00357,superfamily_Nucleic acid-binding proteins SYCP1 6847 genome.wustl.edu 37 1 115420824 115420824 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003176.2 +1 validated e11+1 1.000 216 0% 138 36.2% 0 - - - - - TTF2 8458 genome.wustl.edu 37 1 117617988 117617988 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003594.3 +1 reviewed p.L261P 0.000 456 0% 353 10.8% 0 - benign(0) tolerated(0.15) neutral(0.241) NULL TTF2 8458 genome.wustl.edu 37 1 117619443 117619443 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003594.3 +1 reviewed p.R524Q 0.476 106 0% 47 19.1% 0 - benign(0.198) tolerated(0.14) neutral(0.269) NULL SPAG17 200162 genome.wustl.edu 37 1 118539056 118539056 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_206996.2 -1 validated p.L1664I 0.007 261 0% 218 33% 0 - possibly_damaging(0.555) tolerated(0.05) deleterious(0.535) NULL HSD3B2 3284 genome.wustl.edu 37 1 119964697 119964697 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000198.3 +1 reviewed p.G191 0.998 156 0% 128 32% 0 - - - - HMMPfam_3Beta_HSD,superfamily_NAD(P)-binding Rossmann-fold domains NBPF7 343505 genome.wustl.edu 37 1 120381867 120381867 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001047980.1 -1 predicted p.L260M 0.001 558 0% 338 37.6% 0 - - - - HMMPfam_DUF1220 NOTCH2 4853 genome.wustl.edu 37 1 120493434 120493434 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024408.2 -1 reviewed p.E798* 1.000 224 0% 116 9.5% 0 - - - - HMMSmart_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 PDE4DIP 9659 genome.wustl.edu 37 1 144865845 144865845 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014644.4 -1 validated p.R1912Q 0.002 628 0% 404 19.1% 0 - benign(0.002) tolerated(1) - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144877175 144877175 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014644.4 -1 validated p.R1504 0.998 275 0.4% 180 13.3% 0 - - - - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144917908 144917908 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014644.4 -1 validated p.R460* 0.976 633 0% 570 18.9% 1 100% - - - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144946693 144946693 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014644.4 -1 validated p.E190* 0.981 124 0% 92 15.2% 0 - - - - NULL ITGA10 8515 genome.wustl.edu 37 1 145533930 145533930 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003637.3 +1 reviewed p.L526M 0.422 139 0% 185 14.6% 2 0% benign(0) tolerated(0.15) neutral(0.241) HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain CHD1L 9557 genome.wustl.edu 37 1 146766162 146766162 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004284.3 +1 validated p.R860W 1.000 455 0% 414 29.2% 51 49% probably_damaging(1) deleterious(0) deleterious(0.945) NULL VPS45 11311 genome.wustl.edu 37 1 150040799 150040799 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007259.3 +1 reviewed p.I69S 1.000 150 0.7% 154 14.9% 5 0% possibly_damaging(0.864) deleterious(0) deleterious(0.779) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins PLEKHO1 51177 genome.wustl.edu 37 1 150128271 150128271 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016274.4 +1 provisional p.E63D 0.999 319 0% 365 30.4% 10 10% benign(0.002) tolerated(0.21) neutral(0.044) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like HORMAD1 84072 genome.wustl.edu 37 1 150680763 150680763 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032132.3 -1 provisional p.C172 1.000 135 0% 164 28.7% 0 - - - - HMMPfam_HORMA,superfamily_The spindle assembly checkpoint protein mad2 SETDB1 9869 genome.wustl.edu 37 1 150936528 150936528 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145415.1 +1 reviewed p.R1243C 1.000 155 0% 144 28.5% 64 34.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain PRUNE 58497 genome.wustl.edu 37 1 151006367 151006367 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021222.1 +1 provisional p.L340R 1.000 239 0% 358 10.9% 7 57.1% benign(0.002) tolerated(0.85) neutral(0.001) HMMPfam_DHHA2 PRUNE 58497 genome.wustl.edu 37 1 151006704 151006704 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021222.1 +1 provisional p.K452N 0.999 133 0% 245 29.4% 7 42.8% benign(0.001) tolerated(0.56) neutral(0.006) NULL C1orf56 54964 genome.wustl.edu 37 1 151020503 151020503 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017860.3 +1 predicted p.T60 0.000 34 0% 36 13.9% 14 35.7% - - - NULL TMOD4 29765 genome.wustl.edu 37 1 151144790 151144790 + Nonsense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013353.2 -1 validated p.Y147* 1.000 108 0% 146 27.4% 2 50% - - - HMMPfam_Tropomodulin ZNF687 57592 genome.wustl.edu 37 1 151259765 151259765 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020832.1 +1 provisional p.K333T 1.000 70 0% 77 27.3% 5 60% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SELENBP1 8991 genome.wustl.edu 37 1 151339278 151339278 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003944.2 -1 reviewed p.R195Q 1.000 208 0.5% 279 40.1% 226 51.7% probably_damaging(0.979) tolerated(0.13) deleterious(0.674) HMMPfam_SBP56,superfamily_Cyt_cd1_haem_C SNX27 81609 genome.wustl.edu 37 1 151641067 151641067 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030918.5 +1 reviewed p.L369I 1.000 242 0% 291 18.6% 1 100% possibly_damaging(0.739) tolerated(0.2) neutral(0.320) NULL MRPL9 65005 genome.wustl.edu 37 1 151732590 151732590 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031420.2 -1 reviewed p.R247I 1.000 86 0% 129 22.5% 67 26.8% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL OAZ3 51686 genome.wustl.edu 37 1 151739764 151739764 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016178.2 +1 reviewed p.E98K 1.000 106 0% 94 28.7% 7 71.4% probably_damaging(0.959) tolerated(0.71) neutral(0.404) HMMPfam_ODC_AZ TCHH 7062 genome.wustl.edu 37 1 152083793 152083793 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007113.2 -1 provisional p.L634 0.001 74 0% 122 33.6% 0 - - - - NULL TCHH 7062 genome.wustl.edu 37 1 152086421 152086421 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007113.2 -1 provisional p.R46W 0.991 112 0% 93 23.7% 0 - probably_damaging(0.98) - - HMMPfam_S_100,superfamily_SSF47473 HRNR 388697 genome.wustl.edu 37 1 152193958 152193958 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001009931.1 -1 validated p.N49 1.000 60 0% 36 36.1% 0 - - - - superfamily_SSF47473 FLG2 388698 genome.wustl.edu 37 1 152323281 152323281 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001014342.2 -1 provisional p.H2327Q 0.008 490 0% 502 30.9% 0 - possibly_damaging(0.448) tolerated(0.13) neutral(0.399) NULL FLG2 388698 genome.wustl.edu 37 1 152326903 152326903 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001014342.2 -1 provisional p.S1120L 0.001 635 0% 519 32.9% 0 - unknown(0) tolerated(0.34) - NULL FLG2 388698 genome.wustl.edu 37 1 152331354 152331354 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001014342.2 -1 provisional p.D3N 0.000 163 0% 149 35.6% 0 - unknown(0) tolerated(0.98) - superfamily_SSF47473 LCE2B 26239 genome.wustl.edu 37 1 152659386 152659386 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014357.4 +1 reviewed p.K23E 0.037 382 0% 480 20.4% 0 - unknown(0) - - NULL LCE1B 353132 genome.wustl.edu 37 1 152785005 152785005 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178349.1 +1 validated p.R28I 0.326 287 0% 375 33.1% 0 - unknown(0) - - NULL SPRR3 6707 genome.wustl.edu 37 1 152975933 152975933 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001097589.1 +1 validated p.Y146C 0.000 145 0% 167 13.2% 0 - benign(0.003) tolerated(0.15) neutral(0.241) HMMPfam_Cornifin LELP1 149018 genome.wustl.edu 37 1 153177324 153177324 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010857.1 +1 provisional p.C47 0.877 210 0% 244 36.9% 0 - - - - NULL S100A7L2 645922 genome.wustl.edu 37 1 153410692 153410692 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001045479.1 -1 validated p.E49D 0.851 138 0% 85 29.4% 0 - benign(0.181) tolerated(0.76) neutral(0.018) superfamily_EF-hand NPR1 4881 genome.wustl.edu 37 1 153652980 153652980 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000906.3 +1 validated p.I242T 1.000 29 0% 61 26.2% 2 0% possibly_damaging(0.821) deleterious(0) deleterious(0.755) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I NPR1 4881 genome.wustl.edu 37 1 153659772 153659772 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000906.3 +1 validated p.D678N 0.999 90 1.1% 249 36.1% 0 - possibly_damaging(0.735) deleterious(0.01) deleterious(0.674) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase INTS3 65123 genome.wustl.edu 37 1 153713125 153713125 + Splice_Site SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023015.3 +1 validated e2-2 1.000 66 0% 72 36.1% 0 - - - - - INTS3 65123 genome.wustl.edu 37 1 153719539 153719539 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023015.3 +1 validated p.R142H 1.000 92 0% 123 26% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL INTS3 65123 genome.wustl.edu 37 1 153736332 153736332 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023015.3 +1 validated p.V597 1.000 57 0% 56 26.8% 21 47.6% - - - NULL INTS3 65123 genome.wustl.edu 37 1 153745425 153745425 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023015.3 +1 validated p.A973 0.000 115 0% 98 32.7% 18 61.1% - - - NULL NUP210L 91181 genome.wustl.edu 37 1 154018612 154018612 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207308.2 -1 validated p.P1210H 0.998 122 0% 112 20.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NUP210L 91181 genome.wustl.edu 37 1 154042813 154042813 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207308.2 -1 validated p.F830 0.210 395 0.3% 462 33.8% 0 - - - - NULL NUP210L 91181 genome.wustl.edu 37 1 154098922 154098922 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207308.2 -1 validated p.Y401 0.000 315 0% 341 24% 0 - - - - NULL C1orf189 388701 genome.wustl.edu 37 1 154171980 154171980 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010979.1 -1 predicted p.L77M 1.000 386 0% 550 22.4% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL UBAP2L 9898 genome.wustl.edu 37 1 154201193 154201193 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014847.3 +1 validated p.P91S 1.000 108 0% 146 19.2% 21 47.6% benign(0) tolerated(1) - NULL ADAR 103 genome.wustl.edu 37 1 154575055 154575055 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001111.3 -1 reviewed p.E21 0.938 141 0% 160 13.1% 3 33.3% - - - NULL KCNN3 3782 genome.wustl.edu 37 1 154680718 154680718 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002249.4 -1 reviewed p.E644* 0.998 219 0% 258 11.2% 2 0% - - - NULL DCST2 127579 genome.wustl.edu 37 1 154996342 154996342 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144622.2 -1 validated p.E612D 0.865 29 0% 20 35% 0 - benign(0.009) tolerated(0.51) neutral(0.009) NULL GBA 2629 genome.wustl.edu 37 1 155210448 155210448 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000157.3 -1 reviewed p.L30I 0.325 294 0% 430 27.2% 12 41.6% benign(0.032) tolerated(0.13) neutral(0.254) NULL ASH1L 55870 genome.wustl.edu 37 1 155450268 155450268 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018489.2 -1 reviewed p.K798T 0.990 424 0% 464 24.4% 0 - possibly_damaging(0.917) deleterious(0) deleterious(0.812) NULL ASH1L 55870 genome.wustl.edu 37 1 155451184 155451184 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018489.2 -1 reviewed p.E493* 1.000 187 0% 224 31.7% 0 - - - - NULL ASH1L 55870 genome.wustl.edu 37 1 155452190 155452190 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018489.2 -1 reviewed p.C157 0.643 296 0% 362 24.9% 1 100% - - - NULL GON4L 54856 genome.wustl.edu 37 1 155735474 155735474 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037533.1 -1 validated p.K1264E 1.000 119 0% 155 29.7% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GON4L 54856 genome.wustl.edu 37 1 155744831 155744831 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037533.1 -1 validated p.S771N 0.400 140 0% 178 17.4% 9 0% possibly_damaging(0.932) deleterious(0.04) deleterious(0.728) NULL GON4L 54856 genome.wustl.edu 37 1 155823394 155823394 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037533.1 -1 validated p.E60K 0.008 304 0% 292 25.3% 4 0% benign(0.054) deleterious(0.01) neutral(0.409) NULL ARHGEF2 9181 genome.wustl.edu 37 1 155938964 155938964 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004723.3 -1 validated p.E37G 1.000 65 0% 161 25.5% 20 10% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain C1orf85 112770 genome.wustl.edu 37 1 156262964 156262964 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144580.1 -1 provisional p.D364 0.022 55 0% 50 14% 51 7.8% - - - NULL RHBG 57127 genome.wustl.edu 37 1 156347820 156347820 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020407.3 +1 reviewed p.I138 1.000 46 0% 79 16.5% 0 - - - - HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909) RHBG 57127 genome.wustl.edu 37 1 156351728 156351728 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020407.3 +1 reviewed p.F324L 1.000 65 0% 60 40% 0 - possibly_damaging(0.592) deleterious(0.01) deleterious(0.610) HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909) NES 10763 genome.wustl.edu 37 1 156640514 156640514 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006617.1 -1 reviewed p.E1156K 0.000 79 0% 94 33% 18 22.2% benign(0.244) deleterious(0.01) neutral(0.430) NULL NES 10763 genome.wustl.edu 37 1 156641960 156641960 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006617.1 -1 reviewed p.N674H 0.014 62 0% 53 20.8% 1 0% benign(0.293) deleterious(0.02) deleterious(0.474) NULL NES 10763 genome.wustl.edu 37 1 156641994 156641994 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006617.1 -1 reviewed p.E662D 0.011 64 0% 58 34.5% 0 - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) NULL ISG20L2 81875 genome.wustl.edu 37 1 156697157 156697157 + Silent SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030980.1 -1 provisional p.A96 0.021 88 0% 88 29.5% 5 20% - - - NULL ISG20L2 81875 genome.wustl.edu 37 1 156697244 156697244 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030980.1 -1 provisional p.V67 0.000 116 0% 111 24.3% 4 25% - - - NULL RRNAD1 51093 genome.wustl.edu 37 1 156704174 156704174 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015997.3 +1 validated p.R337Q 0.995 16 0% 19 57.9% 33 9% benign(0.063) tolerated(0.24) neutral(0.041) NULL INSRR 3645 genome.wustl.edu 37 1 156812278 156812278 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014215.1 -1 validated p.S1050Y 1.000 89 0% 93 22.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like INSRR 3645 genome.wustl.edu 37 1 156823731 156823731 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014215.1 -1 validated p.L150 0.997 28 0% 21 28.6% 1 0% - - - HMMPfam_Recep_L_domain,superfamily_SSF52058 NTRK1 4914 genome.wustl.edu 37 1 156845430 156845430 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002529.3 +1 reviewed p.I491 0.082 43 0% 48 12.5% 0 - - - - NULL PEAR1 375033 genome.wustl.edu 37 1 156874553 156874553 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080471.1 +1 provisional p.T39A 0.951 67 0% 87 16.1% 0 - benign(0.156) deleterious(0.04) neutral(0.363) HMMPfam_EMI FCRL5 83416 genome.wustl.edu 37 1 157509035 157509035 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031281.2 -1 validated p.H415N 0.001 177 0% 174 30.5% 0 - benign(0.29) deleterious(0.01) deleterious(0.495) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FCRL2 79368 genome.wustl.edu 37 1 157739673 157739673 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030764.3 -1 reviewed p.S193F 0.001 195 0% 182 22% 0 - probably_damaging(0.956) tolerated(0.2) neutral(0.449) HMMSmart_SM00409,superfamily_Immunoglobulin FCRL2 79368 genome.wustl.edu 37 1 157740317 157740317 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030764.3 -1 reviewed p.F64L 0.000 256 0% 168 36.9% 0 - benign(0.047) tolerated(0.69) neutral(0.005) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CD5L 922 genome.wustl.edu 37 1 157804401 157804401 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005894.2 -1 validated p.A172T 0.968 84 1.2% 93 11.8% 0 - possibly_damaging(0.907) deleterious(0) deleterious(0.805) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like CD5L 922 genome.wustl.edu 37 1 157804522 157804522 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005894.2 -1 validated p.F131L 0.000 59 0% 63 30.2% 0 - benign(0) tolerated(0.68) neutral(0.002) NULL CD1D 912 genome.wustl.edu 37 1 158151825 158151825 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001766.3 +1 reviewed p.P111L 0.979 409 0% 362 12.4% 1 0% probably_damaging(0.96) deleterious(0) deleterious(0.848) HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog CD1D 912 genome.wustl.edu 37 1 158152792 158152792 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001766.3 +1 reviewed p.E244 0.931 169 0% 178 18% 4 0% - - - HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 CD1C 911 genome.wustl.edu 37 1 158263357 158263357 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000443761 +1 known p.F269L 0.000 303 0% 439 38.3% 1 0% - - - NULL CD1B 910 genome.wustl.edu 37 1 158300498 158300498 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000412358 -1 known p.P139L 0.000 312 0% 373 27.6% 0 - - - - NULL CD1E 913 genome.wustl.edu 37 1 158326628 158326628 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030893.2 +1 reviewed p.S370L 0.000 197 0% 221 24.9% 2 0% possibly_damaging(0.794) deleterious(0) deleterious(0.742) NULL OR10T2 128360 genome.wustl.edu 37 1 158369164 158369164 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004475.1 -1 provisional p.I31 0.073 88 0% 86 20.9% 0 - - - - superfamily_SSF81321 OR10K2 391107 genome.wustl.edu 37 1 158390387 158390387 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004476.1 -1 provisional p.K90N 0.017 525 0% 595 20% 0 - possibly_damaging(0.889) tolerated(0.1) deleterious(0.636) HMMPfam_7tm_1,superfamily_SSF81321 OR6Y1 391112 genome.wustl.edu 37 1 158517133 158517133 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005189.1 -1 provisional p.L255I 0.102 273 0% 248 22.6% 0 - probably_damaging(0.979) tolerated(1) neutral(0.422) HMMPfam_7tm_1,superfamily_SSF81321 OR10X1 128367 genome.wustl.edu 37 1 158549549 158549549 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004477.1 -1 provisional p.F47L 0.001 370 0% 372 29.3% 0 - possibly_damaging(0.746) deleterious(0) deleterious(0.719) superfamily_SSF81321 OR10Z1 128368 genome.wustl.edu 37 1 158576971 158576971 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004478.1 +1 provisional p.V248G 0.966 555 0% 596 24.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 SPTA1 6708 genome.wustl.edu 37 1 158585091 158585091 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003126.2 -1 reviewed p.T2235A 1.000 428 0% 393 16.5% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158621162 158621162 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003126.2 -1 reviewed p.R1158W 0.473 156 0% 195 13.8% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158627470 158627470 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003126.2 -1 reviewed p.E868K 1.000 197 0% 211 22.3% 0 - benign(0.245) tolerated(0.06) neutral(0.348) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158644195 158644195 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003126.2 -1 reviewed p.R425L 1.000 516 0% 573 34% 0 - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158651401 158651401 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003126.2 -1 reviewed p.E149D 1.000 221 0% 242 35.5% 0 - benign(0.001) tolerated(0.27) neutral(0.034) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158654930 158654930 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003126.2 -1 reviewed p.D78N 0.997 180 0% 256 28.5% 0 - benign(0.388) tolerated(0.08) neutral(0.424) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat OR6K2 81448 genome.wustl.edu 37 1 158669887 158669887 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005279.1 -1 provisional p.L186 0.149 386 0% 374 11.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR6K3 391114 genome.wustl.edu 37 1 158687250 158687250 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005327.2 -1 validated p.R235I 0.000 303 0% 455 32.1% 0 - possibly_damaging(0.946) tolerated(0.38) neutral(0.408) HMMPfam_7tm_1,superfamily_SSF81321 OR6N1 128372 genome.wustl.edu 37 1 158735585 158735585 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005185.1 -1 provisional p.E296D 0.967 497 0% 556 31.5% 0 - benign(0.008) tolerated(1) - superfamily_SSF81321 OR6N1 128372 genome.wustl.edu 37 1 158736233 158736233 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005185.1 -1 provisional p.K80N 1.000 300 0% 334 25.4% 0 - probably_damaging(0.999) tolerated(0.45) deleterious(0.502) HMMPfam_7tm_1,superfamily_SSF81321 MNDA 4332 genome.wustl.edu 37 1 158812191 158812191 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002432.1 +1 reviewed p.R83Q 0.000 219 0% 235 32.3% 0 - benign(0.236) deleterious(0.02) neutral(0.407) HMMPfam_PAAD_DAPIN MNDA 4332 genome.wustl.edu 37 1 158815562 158815562 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002432.1 +1 reviewed p.F252 0.102 148 0% 126 15.1% 2 0% - - - HMMPfam_HIN PYHIN1 149628 genome.wustl.edu 37 1 158906911 158906911 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152501.3 +1 validated p.E71* 0.000 285 0% 236 36.9% 1 0% - - - HMMPfam_PAAD_DAPIN PYHIN1 149628 genome.wustl.edu 37 1 158913694 158913694 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152501.3 +1 validated p.R373* 0.001 124 0% 85 25.9% 8 0% - - - HMMPfam_HIN AIM2 9447 genome.wustl.edu 37 1 159038473 159038473 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004833.1 -1 reviewed p.S94L 0.000 139 0% 112 30.4% 3 0% benign(0.099) tolerated(0.08) neutral(0.307) NULL CADM3 57863 genome.wustl.edu 37 1 159162412 159162412 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021189.3 +1 validated p.E126K 1.000 167 0% 203 33% 0 - probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 CADM3 57863 genome.wustl.edu 37 1 159162507 159162507 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021189.3 +1 validated p.L157 0.998 211 0.5% 225 24.4% 0 - - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 DARC 2532 genome.wustl.edu 37 1 159176129 159176129 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001122951.1 +1 reviewed p.T302 0.000 277 0% 315 24.1% 72 0% - - - NULL FCER1A 2205 genome.wustl.edu 37 1 159273809 159273809 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002001.2 +1 reviewed p.F56L 0.000 188 0% 167 25.1% 0 - benign(0) tolerated(0.7) neutral(0.002) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 OR10J1 26476 genome.wustl.edu 37 1 159409744 159409744 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012351.2 +1 validated p.L66I 0.953 233 0% 228 12.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR10J5 127385 genome.wustl.edu 37 1 159504990 159504990 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004469.1 -1 provisional p.D270Y 0.997 211 0% 239 33.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR10J5 127385 genome.wustl.edu 37 1 159505559 159505559 + Missense_Mutation SNP C C T rs146863607 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004469.1 -1 provisional p.R80Q 0.000 367 0% 398 21.9% 0 - possibly_damaging(0.478) tolerated(0.37) neutral(0.177) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CCDC19 25790 genome.wustl.edu 37 1 159858195 159858195 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012337.2 -1 validated p.E122* 0.995 76 0% 95 14.7% 1 0% - - - NULL IGSF9 57549 genome.wustl.edu 37 1 159897206 159897206 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135050.1 -1 validated p.D1157Y 0.997 57 0% 34 14.7% 14 21.4% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL LOC100287448 100287448 genome.wustl.edu 37 1 160012104 160012104 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002342164.1 +1 model p.R112C 0.573 249 0% 357 10.6% 0 - - - - NULL ATP1A4 480 genome.wustl.edu 37 1 160124923 160124923 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144699.3 +1 reviewed p.K99T 1.000 261 0% 305 26.2% 0 - possibly_damaging(0.884) deleterious(0.05) deleterious(0.690) HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M ATP1A4 480 genome.wustl.edu 37 1 160141151 160141151 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144699.3 +1 reviewed p.E534D 1.000 149 0% 132 32.6% 0 - benign(0) tolerated(0.09) neutral(0.296) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M CASQ1 844 genome.wustl.edu 37 1 160164891 160164891 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001231.4 +1 reviewed p.Y179* 1.000 89 0% 151 23.2% 3 0% - - - HMMPfam_Calsequestrin,superfamily_Thiordxn-like_fd COPA 1314 genome.wustl.edu 37 1 160261863 160261863 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098398.1 -1 reviewed p.F1038C 1.000 386 0% 464 24.8% 115 45.2% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_COPI_C SLAMF7 57823 genome.wustl.edu 37 1 160718154 160718154 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021181.3 +1 provisional p.R76C 0.000 166 0% 125 24.8% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_V-set,superfamily_Immunoglobulin USF1 7391 genome.wustl.edu 37 1 161012364 161012364 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007122.3 -1 reviewed p.R52Q 1.000 42 0% 41 36.6% 43 44.1% probably_damaging(0.958) deleterious(0.02) deleterious(0.784) NULL USF1 7391 genome.wustl.edu 37 1 161012651 161012651 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007122.3 -1 reviewed p.T10 0.347 142 0% 152 36.2% 44 27.2% - - - NULL ARHGAP30 257106 genome.wustl.edu 37 1 161017597 161017597 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001025598.1 -1 validated p.E1072* 0.889 107 0% 137 31.4% 8 25% - - - NULL ARHGAP30 257106 genome.wustl.edu 37 1 161018468 161018468 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001025598.1 -1 validated p.E781D 0.830 452 0% 469 28.8% 5 20% possibly_damaging(0.942) deleterious(0) deleterious(0.832) NULL ARHGAP30 257106 genome.wustl.edu 37 1 161018566 161018566 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001025598.1 -1 validated p.E749* 0.008 500 0% 505 61.4% 3 33.3% - - - NULL HSPA6 3310 genome.wustl.edu 37 1 161496275 161496275 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002155.3 +1 validated p.F609L 0.991 20 0% 18 27.8% 16 0% benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain FCGR3A 2214 genome.wustl.edu 37 1 161519558 161519558 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000569.6 -1 reviewed p.S26Y 0.002 96 0% 95 10.5% 6 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL FCGR2C 9103 genome.wustl.edu 37 1 161559538 161559538 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_201563.4 +1 reviewed p.D107G 0.623 143 0% 230 31.7% 11 0% possibly_damaging(0.919) deleterious(0.01) deleterious(0.775) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FCGR2B 2213 genome.wustl.edu 37 1 161643021 161643021 + Splice_Site SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004001.3 +1 validated e4+2 0.948 160 0% 125 20.8% 0 - - - - - ATF6 22926 genome.wustl.edu 37 1 161762043 161762043 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007348.2 +1 validated p.I205T 1.000 527 0% 538 31.4% 12 33.3% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL OLFML2B 25903 genome.wustl.edu 37 1 161953717 161953717 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015441.1 -1 provisional p.G667 0.994 116 0% 131 29.8% 40 0% - - - HMMPfam_OLF,HMMSmart_SM00284 LOC100287509 100287509 genome.wustl.edu 37 1 162949561 162949561 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002342119.1 -1 model p.S8* 0.000 36 0% 38 39.5% 0 - - - - HMMPfam_COX7B ALDH9A1 223 genome.wustl.edu 37 1 165636625 165636625 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000696.3 -1 reviewed p.L424I 0.971 171 0% 205 27.8% 44 47.7% benign(0.066) deleterious(0.04) neutral(0.353) HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH ILDR2 387597 genome.wustl.edu 37 1 166905942 166905942 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_199351.1 -1 provisional p.V197I 0.013 39 0% 49 46.9% 1 100% benign(0.001) tolerated(0.53) neutral(0.007) HMMPfam_LSR MAEL 84944 genome.wustl.edu 37 1 166973532 166973532 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032858.1 +1 validated p.I213 0.900 174 0% 215 14.4% 0 - - - - NULL MAEL 84944 genome.wustl.edu 37 1 166974588 166974588 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032858.1 +1 validated p.R267* 0.998 162 0% 190 21.1% 0 - - - - NULL MAEL 84944 genome.wustl.edu 37 1 166985475 166985475 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032858.1 +1 validated p.E288* 1.000 187 0% 236 11.4% 1 0% - - - NULL MAEL 84944 genome.wustl.edu 37 1 166987081 166987081 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032858.1 +1 validated p.S309Y 1.000 373 0% 529 35.5% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL DUSP27 92235 genome.wustl.edu 37 1 167097389 167097389 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080426.1 +1 provisional p.F1007L 0.952 266 0% 214 21% 0 - benign(0.041) tolerated(0.29) neutral(0.032) NULL ADCY10 55811 genome.wustl.edu 37 1 167849384 167849384 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018417.4 -1 reviewed p.I395 0.960 69 0% 78 24.4% 0 - - - - HMMPfam_Guanylate_cyc,superfamily_Adenylyl and guanylyl cyclase catalytic domain GPR161 23432 genome.wustl.edu 37 1 168065851 168065851 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153832.1 -1 provisional p.R332C 0.997 107 0% 87 29.9% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like TBX19 9095 genome.wustl.edu 37 1 168260560 168260560 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000431969 +1 known p.L55I 1.000 156 0% 181 26.5% 1 0% - - - HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors NME7 29922 genome.wustl.edu 37 1 169267813 169267813 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013330.3 -1 validated p.S210Y 1.000 393 0% 421 30.4% 18 33.3% probably_damaging(0.964) deleterious(0) deleterious(0.851) HMMPfam_NDK,HMMSmart_SM00562,superfamily_Nucleoside diphosphate kinases C1orf114 57821 genome.wustl.edu 37 1 169391457 169391457 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021179.1 -1 predicted p.S71Y 0.000 314 0% 229 27.1% 0 - possibly_damaging(0.849) tolerated(0.08) deleterious(0.626) NULL SLC19A2 10560 genome.wustl.edu 37 1 169446766 169446766 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006996.2 -1 reviewed p.I145T 1.000 149 0% 200 28.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Folate_carrier,superfamily_MFS general substrate transporter F5 2153 genome.wustl.edu 37 1 169510785 169510785 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000130.4 -1 reviewed p.V1181 0.007 598 0% 653 22.1% 2 0% - - - NULL F5 2153 genome.wustl.edu 37 1 169511950 169511950 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000130.4 -1 reviewed p.E793A 0.006 541 0% 458 15.5% 0 - benign(0.102) deleterious(0.01) neutral(0.414) NULL F5 2153 genome.wustl.edu 37 1 169555523 169555523 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000130.4 -1 reviewed p.F34L 1.000 64 0% 100 14% 0 - possibly_damaging(0.775) deleterious(0) deleterious(0.733) superfamily_Cupredoxins SELP 6403 genome.wustl.edu 37 1 169578790 169578790 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003005.3 -1 reviewed p.R429W 0.000 189 0% 204 31.9% 1 0% benign(0.022) deleterious(0.01) neutral(0.407) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SCYL3 57147 genome.wustl.edu 37 1 169828244 169828244 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181093.2 -1 validated p.R417Q 1.000 259 0% 173 17.3% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat KIFAP3 22920 genome.wustl.edu 37 1 169985670 169985670 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014970.2 -1 reviewed p.S372 0.916 341 0% 227 11% 8 37.5% - - - HMMSmart_SM00185,HMMPfam_KAP,superfamily_ARM repeat C1orf129 80133 genome.wustl.edu 37 1 170964610 170964610 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000426136 +1 known p.D32N 0.846 306 0% 245 34.3% 0 - - - - NULL C1orf129 80133 genome.wustl.edu 37 1 170965723 170965723 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000426136 +1 known p.E78* 0.001 466 0% 304 23.7% 0 - benign(0.025) tolerated(0.17) neutral(0.060) NULL FMO1 2326 genome.wustl.edu 37 1 171254627 171254627 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002021.1 +1 reviewed p.L515I 0.901 154 0% 200 33.5% 0 - benign(0.206) deleterious(0.04) neutral(0.369) HMMPfam_FMO-like FMO4 2329 genome.wustl.edu 37 1 171303720 171303720 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002022.1 +1 reviewed p.S333Y 0.971 345 0% 280 28.2% 0 - benign(0.268) deleterious(0) deleterious(0.473) HMMPfam_FMO-like PRRC2C 23215 genome.wustl.edu 37 1 171481288 171481288 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015172.3 +1 validated p.S21G 1.000 80 0% 75 17.3% 0 - unknown(0) - - HMMPfam_BAT2_N PRRC2C 23215 genome.wustl.edu 37 1 171510257 171510257 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015172.3 +1 validated p.R1216* 1.000 158 0% 111 27% 8 12.5% - - - NULL PRRC2C 23215 genome.wustl.edu 37 1 171510392 171510392 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015172.3 +1 validated p.R1261W 1.000 264 0.4% 157 26.8% 1 0% unknown(0) - - NULL MYOC 4653 genome.wustl.edu 37 1 171605715 171605715 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000261.1 -1 reviewed p.D289N 0.999 150 0% 151 33.1% 1 0% possibly_damaging(0.882) tolerated(0.07) deleterious(0.663) HMMPfam_OLF,HMMSmart_SM00284 DNM3 26052 genome.wustl.edu 37 1 172348233 172348233 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015569.3 +1 validated p.R657C 1.000 128 0% 125 34.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GED,HMMSmart_GED C1orf9 51430 genome.wustl.edu 37 1 172501865 172501865 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000367723 +1 known p.E85* 0.000 45 0% 45 33.3% 0 - - - - NULL SLC9A11 284525 genome.wustl.edu 37 1 173476024 173476024 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178527.3 -1 validated p.P1066T 1.000 138 0% 99 30.3% 0 - probably_damaging(0.982) tolerated(0.06) deleterious(0.749) NULL SLC9A11 284525 genome.wustl.edu 37 1 173486711 173486711 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178527.3 -1 validated p.I958L 0.031 256 0% 255 19.6% 0 - benign(0.007) tolerated(1) - HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding KLHL20 27252 genome.wustl.edu 37 1 173744870 173744870 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014458.3 +1 reviewed p.I509 1.000 253 0% 295 22% 4 0% - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain CENPL 91687 genome.wustl.edu 37 1 173776413 173776413 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127181.2 -1 validated p.L138I 1.000 198 0% 179 37.4% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL DARS2 55157 genome.wustl.edu 37 1 173795869 173795869 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018122.4 +1 reviewed p.R58C 1.000 56 0% 59 16.9% 4 25% probably_damaging(1) tolerated(0.09) deleterious(0.796) superfamily_Nucleic_acid_OB GPR52 9293 genome.wustl.edu 37 1 174417725 174417725 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005684.4 +1 validated p.R159I 1.000 417 0% 397 21.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_SSF81321 GPR52 9293 genome.wustl.edu 37 1 174418235 174418235 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005684.4 +1 validated p.R329Q 1.000 302 0% 251 32.7% 0 - possibly_damaging(0.623) tolerated(0.24) neutral(0.255) superfamily_SSF81321 RABGAP1L 9910 genome.wustl.edu 37 1 174668743 174668743 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014857.3 +1 validated p.F660 1.000 154 0% 154 35.7% 5 20% - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p TNN 63923 genome.wustl.edu 37 1 175052885 175052885 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022093.1 +1 validated e4-1 0.998 61 0% 84 33.3% 0 - - - - - TNN 63923 genome.wustl.edu 37 1 175086259 175086259 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022093.1 +1 validated p.R768 1.000 130 0% 129 30.2% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNR 7143 genome.wustl.edu 37 1 175365849 175365849 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000422274 -1 known p.L82I 1.000 67 0% 66 24.2% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III RFWD2 64326 genome.wustl.edu 37 1 176145050 176145050 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022457.5 -1 validated p.F187L 1.000 160 0% 139 30.9% 5 100% probably_damaging(0.99) deleterious(0.05) deleterious(0.787) superfamily_RING/U-box PAPPA2 60676 genome.wustl.edu 37 1 176664920 176664920 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020318.2 +1 validated p.R891C 1.000 349 0% 284 29.2% 0 - probably_damaging(0.988) tolerated(0.13) deleterious(0.690) HMMPfam_Peptidase_M43 FAM5B 57795 genome.wustl.edu 37 1 177250416 177250416 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021165.2 +1 provisional p.L702F 1.000 359 0% 271 19.6% 0 - possibly_damaging(0.896) tolerated(0.1) deleterious(0.640) NULL SEC16B 89866 genome.wustl.edu 37 1 177928126 177928126 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000239472 -1 known p.K43T 0.001 39 0% 27 14.8% 0 - unknown(0) deleterious(0.04) - NULL SEC16B 89866 genome.wustl.edu 37 1 177934270 177934270 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033127.2 -1 validated p.E149K 0.986 38 0% 40 27.5% 0 - possibly_damaging(0.527) tolerated(0.06) deleterious(0.500) NULL RASAL2 9462 genome.wustl.edu 37 1 178269183 178269183 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_170692.2 +1 reviewed p.L111 0.985 98 0% 109 31.2% 4 25% - - - HMMSmart_PH,superfamily_SSF50729 RASAL2 9462 genome.wustl.edu 37 1 178425912 178425912 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000433130 +1 known p.I166L 0.828 579 0% 517 16.8% 2 0% - - - HMMSmart_SM00323 SOAT1 6646 genome.wustl.edu 37 1 179311290 179311290 + Silent SNP C C T rs180839649 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003101.4 +1 provisional p.N274 1.000 223 0% 262 28.6% 6 16.6% - - - HMMPfam_MBOAT AXDND1 126859 genome.wustl.edu 37 1 179335713 179335713 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144696.4 +1 validated p.K23N 0.002 85 0% 94 11.7% 0 - probably_damaging(0.957) deleterious(0.02) deleterious(0.784) NULL AXDND1 126859 genome.wustl.edu 37 1 179363168 179363168 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144696.4 +1 validated p.E332* 0.989 227 0% 244 27% 0 - - - - NULL NPHS2 7827 genome.wustl.edu 37 1 179526170 179526170 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014625.2 -1 reviewed p.D244Y 1.000 89 0% 117 23.9% 0 - possibly_damaging(0.906) deleterious(0.04) deleterious(0.708) HMMPfam_Band_7,HMMSmart_SM00244,PatternScan_BAND_7 TDRD5 163589 genome.wustl.edu 37 1 179561846 179561846 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173533.2 +1 provisional p.E32D 0.999 202 0% 111 26.1% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL TDRD5 163589 genome.wustl.edu 37 1 179590204 179590204 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173533.2 +1 provisional p.S317Y 1.000 134 0% 202 24.3% 0 - possibly_damaging(0.81) deleterious(0) deleterious(0.750) NULL TDRD5 163589 genome.wustl.edu 37 1 179620195 179620195 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173533.2 +1 provisional p.S665Y 1.000 405 0.2% 372 16.1% 0 - possibly_damaging(0.502) deleterious(0.01) deleterious(0.573) NULL TDRD5 163589 genome.wustl.edu 37 1 179659877 179659877 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173533.2 +1 provisional p.S915 0.422 169 0% 124 26.6% 0 - - - - NULL CEP350 9857 genome.wustl.edu 37 1 179990023 179990023 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014810.4 +1 reviewed p.F1038L 0.075 124 0% 116 11.2% 0 - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL CEP350 9857 genome.wustl.edu 37 1 180063666 180063666 + Missense_Mutation SNP C C T rs141429392 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014810.4 +1 reviewed p.S2809L 0.002 149 0% 119 30.3% 0 - benign(0.005) tolerated(0.35) neutral(0.021) NULL QSOX1 5768 genome.wustl.edu 37 1 180153057 180153057 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002826.4 +1 reviewed p.M253I 0.018 356 0% 453 14.1% 63 30.1% benign(0.001) tolerated(0.2) neutral(0.049) NULL LHX4 89884 genome.wustl.edu 37 1 180243594 180243594 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033343.2 +1 reviewed p.T351 0.950 449 0.2% 399 11% 3 0% - - - NULL ACBD6 84320 genome.wustl.edu 37 1 180257535 180257535 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032360.3 -1 validated p.S271Y 0.310 123 0% 98 31.6% 30 80% benign(0.313) deleterious(0.01) deleterious(0.503) NULL ACBD6 84320 genome.wustl.edu 37 1 180399325 180399325 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032360.3 -1 validated p.E153* 1.000 313 0% 258 32.6% 9 0% - - - NULL CACNA1E 777 genome.wustl.edu 37 1 181546929 181546929 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000721.2 +1 reviewed p.F180L 1.000 50 0% 56 25% 0 - possibly_damaging(0.636) tolerated(0.34) neutral(0.245) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1E 777 genome.wustl.edu 37 1 181727983 181727983 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000721.2 +1 reviewed p.K1528N 1.000 125 0% 117 18.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SHCBP1L 81626 genome.wustl.edu 37 1 182898835 182898835 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030933.2 -1 validated p.E377* 1.000 390 0% 361 28% 0 - - - - HMMSmart_CASH LAMC1 3915 genome.wustl.edu 37 1 183083802 183083802 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002293.3 +1 reviewed p.F386L 1.000 202 0% 186 31.7% 9 22.2% benign(0.416) deleterious(0.05) deleterious(0.480) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,superfamily_SSF57196 RGL1 23179 genome.wustl.edu 37 1 183885684 183885684 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015149.3 +1 validated p.N653S 0.092 218 0% 234 34.6% 3 0% benign(0) tolerated(0.49) neutral(0.011) NULL GLT25D2 23127 genome.wustl.edu 37 1 183914663 183914663 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015101.2 -1 validated p.I391S 1.000 313 0% 347 33.7% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Glyco_transf_25 GLT25D2 23127 genome.wustl.edu 37 1 183938602 183938602 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015101.2 -1 validated p.F211L 1.000 89 0% 111 26.1% 0 - benign(0.009) deleterious(0.01) neutral(0.406) NULL EDEM3 80267 genome.wustl.edu 37 1 184703759 184703759 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025191.3 -1 validated p.E122* 1.000 47 0% 42 33.3% 0 - - - - HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 FAM129A 116496 genome.wustl.edu 37 1 184765198 184765198 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052966.2 -1 validated p.N567T 1.000 261 0% 243 27.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FAM129A 116496 genome.wustl.edu 37 1 184863324 184863324 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052966.2 -1 validated p.G68V 0.597 215 0% 182 23.1% 1 0% probably_damaging(0.978) deleterious(0.03) deleterious(0.785) NULL SWT1 54823 genome.wustl.edu 37 1 185143832 185143832 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105518.1 +1 validated p.E185* 0.016 168 0% 117 31.6% 0 - - - - NULL SWT1 54823 genome.wustl.edu 37 1 185144058 185144058 + Missense_Mutation SNP C C T rs186283787 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105518.1 +1 validated p.S260L 0.000 255 0% 182 22% 0 - benign(0) tolerated(0.18) neutral(0.056) NULL SWT1 54823 genome.wustl.edu 37 1 185183764 185183764 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105518.1 +1 validated p.N700H 0.045 313 0% 257 32.7% 2 100% benign(0) tolerated(0.05) neutral(0.345) NULL HMCN1 83872 genome.wustl.edu 37 1 185833660 185833660 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031935.2 +1 reviewed p.S133Y 1.000 219 0.5% 256 13.3% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_vWA-like HMCN1 83872 genome.wustl.edu 37 1 185972912 185972912 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031935.2 +1 reviewed p.V1471I 0.657 140 0% 128 23.4% 1 100% benign(0) tolerated(0.58) neutral(0.005) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186026527 186026527 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031935.2 +1 reviewed p.L2436I 1.000 413 0.2% 359 31.8% 0 - benign(0.39) tolerated(0.3) neutral(0.153) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186059997 186059997 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031935.2 +1 reviewed p.Q3279K 1.000 139 0% 193 25.4% 0 - probably_damaging(0.998) tolerated(0.18) deleterious(0.530) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186082064 186082064 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031935.2 +1 reviewed p.E3704* 1.000 225 0% 140 33.6% 0 - - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186088325 186088325 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031935.2 +1 reviewed p.A3951S 0.068 300 0.3% 294 23.1% 0 - benign(0.052) tolerated(0.71) neutral(0.005) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186158716 186158716 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031935.2 +1 reviewed p.L5538 0.997 186 0% 196 29.1% 20 0% - - - NULL PRG4 10216 genome.wustl.edu 37 1 186277620 186277620 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005807.3 +1 reviewed p.D923E 0.000 101 0% 111 28.8% 0 - unknown(0) deleterious(0) - NULL PRG4 10216 genome.wustl.edu 37 1 186278969 186278969 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005807.3 +1 reviewed p.T1156A 0.702 45 0% 62 9.7% 1 100% possibly_damaging(0.919) - - superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 TPR 7175 genome.wustl.edu 37 1 186287903 186287903 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003292.2 -1 reviewed p.R2209Q 1.000 187 0% 251 36.7% 70 44.2% probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL UCHL5 51377 genome.wustl.edu 37 1 192992063 192992063 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015984.2 -1 validated p.R280I 1.000 194 0% 142 24.6% 5 20% possibly_damaging(0.609) deleterious(0.01) deleterious(0.617) NULL B3GALT2 8707 genome.wustl.edu 37 1 193149715 193149715 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003783.3 -1 reviewed p.K326N 1.000 154 0% 97 27.8% 0 - probably_damaging(0.972) deleterious(0.05) deleterious(0.759) HMMPfam_Galactosyl_T CDC73 79577 genome.wustl.edu 37 1 193202160 193202160 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024529.4 +1 reviewed p.Q398* 1.000 265 0% 244 14.3% 8 0% - - - HMMPfam_CDC73 KCNT2 343450 genome.wustl.edu 37 1 196577385 196577385 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198503.2 -1 validated p.D19Y 1.000 139 0% 122 13.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CFHR3 10878 genome.wustl.edu 37 1 196749041 196749041 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021023.5 +1 reviewed p.A123V 0.000 132 0% 151 11.3% 0 - benign(0.18) deleterious(0.01) neutral(0.422) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CFHR3 10878 genome.wustl.edu 37 1 196762475 196762475 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021023.5 +1 reviewed p.M275I 0.056 168 0% 113 35.4% 0 - benign(0.029) tolerated(0.21) neutral(0.045) superfamily_Complement_control_module CFHR5 81494 genome.wustl.edu 37 1 196953220 196953220 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030787.3 +1 reviewed p.S128L 0.000 264 0% 231 22.9% 0 - benign(0.341) tolerated(0.05) neutral(0.453) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module F13B 2165 genome.wustl.edu 37 1 197009831 197009831 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001994.2 -1 reviewed p.K591N 0.004 134 0% 114 33.3% 0 - benign(0.002) tolerated(0.47) neutral(0.011) superfamily_Complement_control_module ASPM 259266 genome.wustl.edu 37 1 197062325 197062325 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018136.4 -1 reviewed p.R3051W 0.371 295 0% 299 33.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197071998 197071998 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018136.4 -1 reviewed p.K2128I 1.000 329 0% 402 23.9% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197073649 197073649 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018136.4 -1 reviewed p.R1578* 0.000 123 0% 173 28.9% 0 - - - - HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197073886 197073886 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018136.4 -1 reviewed p.R1499W 0.981 113 0% 144 27.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197074245 197074245 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018136.4 -1 reviewed p.S1379Y 0.999 161 0% 213 16.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197087046 197087046 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018136.4 -1 reviewed p.R1313I 0.006 481 0% 518 16% 1 0% benign(0.003) tolerated(0.13) neutral(0.253) superfamily_P-loop containing nucleoside triphosphate hydrolases CRB1 23418 genome.wustl.edu 37 1 197390725 197390725 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_201253.1 +1 reviewed p.E589 0.001 232 0% 299 30.8% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 DENND1B 163486 genome.wustl.edu 37 1 197509132 197509132 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142795.1 -1 validated p.E473* 0.004 192 0% 118 22% 3 0% - - - NULL LHX9 56956 genome.wustl.edu 37 1 197890505 197890505 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020204.2 +1 reviewed p.R150Q 1.000 71 0% 71 14.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) NEK7 140609 genome.wustl.edu 37 1 198233296 198233296 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133494.2 +1 validated p.F101L 1.000 423 0% 322 26.7% 0 - possibly_damaging(0.854) deleterious(0.02) deleterious(0.712) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PTPRC 5788 genome.wustl.edu 37 1 198721725 198721725 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002838.3 +1 reviewed p.R1109 1.000 269 0% 220 32.3% 8 0% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II ZNF281 23528 genome.wustl.edu 37 1 200377298 200377298 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012482.3 -1 provisional p.E512 0.994 84 0% 89 15.7% 0 - - - - NULL KIF14 9928 genome.wustl.edu 37 1 200522733 200522733 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014875.2 -1 validated p.S1577Y 0.194 232 0% 170 16.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIF14 9928 genome.wustl.edu 37 1 200567457 200567457 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014875.2 -1 validated p.M819I 1.000 132 0% 142 33.1% 1 100% possibly_damaging(0.533) tolerated(0.09) deleterious(0.476) superfamily_SMAD_FHA CAMSAP2 23271 genome.wustl.edu 37 1 200729967 200729967 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203459.1 +1 validated p.E47A 1.000 312 0% 305 35.7% 1 100% probably_damaging(0.984) deleterious(0.03) deleterious(0.795) NULL CAMSAP2 23271 genome.wustl.edu 37 1 200817485 200817485 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203459.1 +1 validated p.L530I 0.065 236 0% 243 24.7% 0 - benign(0.055) tolerated(0.55) neutral(0.011) NULL KIF21B 23046 genome.wustl.edu 37 1 200944720 200944720 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017596.2 -1 provisional p.I1494 0.782 59 0% 74 37.8% 1 0% - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 TNNT2 7139 genome.wustl.edu 37 1 201328778 201328778 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000364.2 -1 reviewed p.R272Q 1.000 22 0% 12 50% 8 100% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL LMOD1 25802 genome.wustl.edu 37 1 201869441 201869441 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012134.2 -1 reviewed p.K234Q 0.000 82 0% 86 30.2% 2 0% benign(0.003) tolerated(0.4) neutral(0.016) HMMPfam_Tropomodulin LMOD1 25802 genome.wustl.edu 37 1 201869780 201869780 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012134.2 -1 reviewed p.L121M 0.003 312 0% 345 38.3% 0 - benign(0.421) tolerated(0.1) neutral(0.423) HMMPfam_Tropomodulin ARL8A 127829 genome.wustl.edu 37 1 202103613 202103613 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138795.2 -1 validated p.S181 0.975 49 0% 54 24.1% 99 28.2% - - - HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases LGR6 59352 genome.wustl.edu 37 1 202166204 202166204 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000420582 +1 known p.T54P 0.000 51 0% 95 37.9% 0 - unknown(0) - - NULL PPP1R12B 4660 genome.wustl.edu 37 1 202399936 202399936 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000466968 +1 known p.E129* 1.000 170 0% 130 23.8% 0 - benign(0.221) tolerated(0.08) neutral(0.322) NULL PPP1R12B 4660 genome.wustl.edu 37 1 202464536 202464536 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032105.2 +1 reviewed p.R754I 0.050 147 0% 167 10.8% 0 - possibly_damaging(0.931) deleterious(0.02) deleterious(0.760) NULL SYT2 127833 genome.wustl.edu 37 1 202573673 202573673 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001136504.1 -1 validated p.K85N 1.000 154 0% 202 15.3% 0 - unknown(0) tolerated(0.08) - NULL KDM5B 10765 genome.wustl.edu 37 1 202705374 202705374 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006618.3 -1 validated p.F1077L 1.000 84 0% 117 29.9% 2 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_PLU-1 ENSG00000245250 0 genome.wustl.edu 37 1 202935141 202935141 + RNA SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000501099 +1 novel NULL 0.000 25 0% 25 48% 0 - - - - - CHI3L1 1116 genome.wustl.edu 37 1 203151968 203151968 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001276.2 -1 reviewed p.E160K 0.975 52 0% 47 36.2% 11 54.5% probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_Glyco_hydro_18,HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat ATP2B4 493 genome.wustl.edu 37 1 203702353 203702353 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356729 +1 known p.S69L 1.000 137 0% 166 25.3% 0 - - - - NULL LAX1 54900 genome.wustl.edu 37 1 203743224 203743224 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017773.3 +1 validated p.E204D 0.005 106 0% 132 20.5% 0 - probably_damaging(0.97) tolerated(0.12) deleterious(0.673) NULL KISS1 3814 genome.wustl.edu 37 1 204159612 204159612 + Frame_Shift_Del DEL T T - rs71745629 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002256.3 -1 validated p.*139fs 0.001 - - - - - - - - - NULL PIK3C2B 5287 genome.wustl.edu 37 1 204403724 204403724 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002646.3 -1 reviewed p.F1177V 1.000 45 0% 53 32.1% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) NFASC 23114 genome.wustl.edu 37 1 204944398 204944398 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015090.3 +1 reviewed e13-1 1.000 77 0% 114 28.1% 0 - - - - - NFASC 23114 genome.wustl.edu 37 1 204949540 204949540 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000367173 +1 known p.E710* 0.483 20 0% 12 41.7% 1 0% benign(0.12) tolerated(0.15) neutral(0.251) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III DSTYK 25778 genome.wustl.edu 37 1 205117438 205117438 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015375.2 -1 reviewed p.A833T 1.000 93 0% 99 33.3% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NUAK2 81788 genome.wustl.edu 37 1 205277832 205277832 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030952.1 -1 provisional p.I127 0.777 31 0% 41 39% 16 37.5% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase LEMD1 93273 genome.wustl.edu 37 1 205350932 205350932 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000367153 -1 known p.E134* 0.000 306 0% 315 20.6% 33 39.3% - - - NULL NUCKS1 64710 genome.wustl.edu 37 1 205688691 205688691 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022731.3 -1 validated p.E166* 1.000 150 0% 192 12.5% 42 9.5% - - - NULL PM20D1 148811 genome.wustl.edu 37 1 205819127 205819127 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152491.4 -1 validated p.S25L 0.004 46 0% 61 23% 0 - benign(0.062) tolerated(0.31) neutral(0.031) NULL AVPR1B 553 genome.wustl.edu 37 1 206225010 206225010 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000707.3 +1 reviewed p.F190 1.000 61 0% 46 15.2% 2 50% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CTSE 1510 genome.wustl.edu 37 1 206319112 206319112 + Silent SNP C C T rs150791070 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001910.2 +1 reviewed p.F79 0.344 104 0% 97 40.2% 12 25% - - - HMMPfam_Asp,superfamily_Pept_Aspartic IKBKE 9641 genome.wustl.edu 37 1 206650074 206650074 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014002.2 +1 validated p.F198 0.994 33 0% 32 15.6% 4 0% - - - superfamily_Kinase_like,HMMPfam_Pkinase RASSF5 83593 genome.wustl.edu 37 1 206758011 206758011 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182663.2 +1 reviewed p.G328E 1.000 97 0% 83 28.9% 5 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_RA,HMMSmart_SM00314 IL20 50604 genome.wustl.edu 37 1 207039325 207039325 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018724.3 +1 reviewed p.R43Q 0.001 162 0% 187 32.1% 0 - benign(0.25) tolerated(0.43) neutral(0.039) superfamily_4_helix_cytokine,HMMPfam_IL10,HMMSmart_IL10 IL20 50604 genome.wustl.edu 37 1 207040770 207040770 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018724.3 +1 reviewed p.K140N 0.854 270 0% 304 12.8% 0 - benign(0.026) tolerated(0.47) neutral(0.012) superfamily_4_helix_cytokine,HMMPfam_IL10,HMMSmart_IL10 PFKFB2 5208 genome.wustl.edu 37 1 207242833 207242833 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006212.2 +1 reviewed p.R351Q 1.000 115 0% 114 43% 1 100% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like C4BPB 725 genome.wustl.edu 37 1 207262707 207262707 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001017367.1 +1 reviewed e0+1 0.000 22 0% 18 44.4% 0 - - - - - C4BPA 722 genome.wustl.edu 37 1 207288841 207288841 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000715.3 +1 reviewed p.E137* 0.975 311 0% 282 36.5% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CR2 1380 genome.wustl.edu 37 1 207640198 207640198 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001006658.2 +1 reviewed p.S129Y 0.874 109 0% 156 26.3% 0 - benign(0.42) deleterious(0.03) deleterious(0.500) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CR2 1380 genome.wustl.edu 37 1 207643321 207643321 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001006658.2 +1 reviewed p.D367Y 0.105 85 0% 150 24.7% 0 - probably_damaging(0.961) deleterious(0.05) deleterious(0.750) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CR1 1378 genome.wustl.edu 37 1 207700180 207700180 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000651.4 +1 reviewed p.F323L 0.669 346 0.3% 491 27.1% 0 - benign(0.043) tolerated(0.7) neutral(0.005) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CR1 1378 genome.wustl.edu 37 1 207739182 207739182 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000651.4 +1 reviewed e24-1 0.068 180 0% 231 21.2% 0 - - - - - CR1 1378 genome.wustl.edu 37 1 207780600 207780600 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000651.4 +1 reviewed p.R1939* 0.771 190 0% 153 27.5% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain HSD11B1 3290 genome.wustl.edu 37 1 209907747 209907747 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005525.2 +1 reviewed p.E254* 0.002 185 0% 149 23.5% 4 0% - - - superfamily_NAD(P)-binding Rossmann-fold domains DIEXF 27042 genome.wustl.edu 37 1 210016941 210016941 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014388.5 +1 validated p.E643K 1.000 126 0% 157 25.5% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1253 KCNH1 3756 genome.wustl.edu 37 1 210857438 210857438 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_172362.2 -1 reviewed p.E719* 1.000 80 0% 55 21.8% 0 - - - - NULL INTS7 25896 genome.wustl.edu 37 1 212115237 212115237 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015434.2 -1 provisional p.R940C 1.000 126 0% 98 22.4% 35 8.5% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL INTS7 25896 genome.wustl.edu 37 1 212184729 212184729 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015434.2 -1 provisional p.E182* 1.000 56 0% 42 19% 4 0% - - - superfamily_ARM repeat INTS7 25896 genome.wustl.edu 37 1 212193518 212193518 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015434.2 -1 provisional p.R106I 1.000 99 0% 75 36% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_ARM repeat DTL 51514 genome.wustl.edu 37 1 212276274 212276274 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016448.2 +1 validated p.E729* 0.654 93 0% 114 30.7% 3 100% - - - NULL PPP2R5A 5525 genome.wustl.edu 37 1 212502578 212502578 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006243.2 +1 reviewed p.E95* 1.000 90 0% 78 15.4% 1 0% - - - HMMPfam_B56,superfamily_ARM repeat FAM71A 149647 genome.wustl.edu 37 1 212799096 212799096 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153606.3 +1 validated p.A293T 0.014 41 0% 34 14.7% 0 - benign(0.024) tolerated(1) neutral(0.001) NULL RPS6KC1 26750 genome.wustl.edu 37 1 213302954 213302954 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012424.3 +1 validated p.Q186P 0.921 358 0% 209 25.8% 0 - probably_damaging(0.966) tolerated(0.09) deleterious(0.704) NULL RPS6KC1 26750 genome.wustl.edu 37 1 213414388 213414388 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012424.3 +1 validated p.K523N 0.996 222 0% 227 25.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RPS6KC1 26750 genome.wustl.edu 37 1 213445973 213445973 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012424.3 +1 validated p.R1066K 1.000 126 0% 171 26.3% 9 22.2% benign(0.009) tolerated(0.4) neutral(0.017) NULL PROX1 5629 genome.wustl.edu 37 1 214170114 214170114 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002763.3 +1 provisional p.S79L 1.000 213 0% 230 31.7% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Prox1 CENPF 1063 genome.wustl.edu 37 1 214816168 214816168 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016343.3 +1 reviewed p.Y1496C 0.001 104 0% 101 12.9% 0 - benign(0.002) tolerated(0.1) neutral(0.286) NULL KCTD3 51133 genome.wustl.edu 37 1 215751056 215751056 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016121.3 +1 validated p.G101R 1.000 118 0% 107 37.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain USH2A 7399 genome.wustl.edu 37 1 215844624 215844624 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_206933.2 -1 reviewed p.R4608L 0.629 270 0% 226 11.9% 0 - probably_damaging(0.983) tolerated(0.12) deleterious(0.690) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215853659 215853659 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_206933.2 -1 reviewed p.G4042 0.023 383 0% 413 20.6% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215853667 215853667 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_206933.2 -1 reviewed p.R4040C 0.940 376 0% 397 33.8% 0 - benign(0.339) tolerated(0.08) neutral(0.407) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216017732 216017732 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_206933.2 -1 reviewed p.S3054 0.873 246 0% 248 32.3% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216052295 216052295 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_206933.2 -1 reviewed p.S2790Y 0.999 456 0% 332 26.8% 0 - probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216062287 216062287 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_206933.2 -1 reviewed p.I2568M 1.000 252 0% 214 22.9% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216166443 216166443 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_206933.2 -1 reviewed p.E2242K 0.993 490 0% 317 32.5% 0 - probably_damaging(0.995) tolerated(0.14) deleterious(0.707) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216462633 216462633 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_206933.2 -1 reviewed p.L654I 0.147 329 0% 391 32.7% 0 - benign(0.144) tolerated(0.4) neutral(0.029) HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin EPRS 2058 genome.wustl.edu 37 1 220156663 220156663 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004446.2 -1 reviewed p.I1056 0.999 214 0% 135 16.3% 6 50% - - - HMMPfam_tRNA-synt_2b,superfamily_SSF55681 EPRS 2058 genome.wustl.edu 37 1 220170582 220170582 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004446.2 -1 reviewed p.D762Y 0.999 188 0% 125 28% 5 60% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_WHEP-TRS,PatternScan_WHEP_TRS_1,superfamily_S15/NS1_bind IARS2 55699 genome.wustl.edu 37 1 220269471 220269471 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018060.3 +1 validated p.S98* 1.000 72 0% 63 27% 0 - - - - HMMPfam_tRNA-synt_1,superfamily_Nucleotidylyl transferase IARS2 55699 genome.wustl.edu 37 1 220275521 220275521 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018060.3 +1 validated p.R201C 1.000 88 0% 98 36.7% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_1,superfamily_Nucleotidylyl transferase MARK1 4139 genome.wustl.edu 37 1 220804392 220804392 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018650.3 +1 validated p.R309* 1.000 109 0% 122 22.1% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MIA3 375056 genome.wustl.edu 37 1 222801097 222801097 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198551.2 +1 validated p.P179S 0.002 125 0% 125 22.4% 1 0% benign(0.109) deleterious(0.04) neutral(0.357) NULL AIDA 64853 genome.wustl.edu 37 1 222867591 222867591 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022831.2 -1 validated p.K65N 1.000 353 0.3% 356 17.4% 5 0% benign(0.344) deleterious(0) deleterious(0.553) HMMPfam_DUF1855,superfamily_Domain from hypothetical 2610208m17rik protein TP53BP2 7159 genome.wustl.edu 37 1 223994597 223994597 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001031685.2 -1 reviewed p.S142Y 1.000 193 0% 217 24.4% 2 50% probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL FBXO28 23219 genome.wustl.edu 37 1 224340922 224340922 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015176.2 +1 validated p.E199* 1.000 212 0% 195 29.7% 2 0% - - - NULL NVL 4931 genome.wustl.edu 37 1 224495747 224495747 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002533.2 -1 validated p.F187L 1.000 232 0% 236 12.7% 0 - benign(0) tolerated(1) - NULL CNIH3 149111 genome.wustl.edu 37 1 224872541 224872541 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152495.1 +1 provisional p.R65Q 1.000 118 0% 118 17.8% 7 0% probably_damaging(0.993) deleterious(0.02) deleterious(0.833) HMMPfam_Cornichon MIXL1 83881 genome.wustl.edu 37 1 226413239 226413239 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031944.1 +1 provisional p.R142Q 0.990 162 0% 192 33.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 LIN9 286826 genome.wustl.edu 37 1 226474059 226474059 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173083.2 -1 provisional p.R183W 1.000 68 0% 107 28% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DIRP CDC42BPA 8476 genome.wustl.edu 37 1 227216924 227216924 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003607.3 -1 reviewed p.K1254T 1.000 95 0% 113 15.9% 2 0% possibly_damaging(0.531) deleterious(0) deleterious(0.623) HMMPfam_CNH,HMMSmart_CNH CDC42BPA 8476 genome.wustl.edu 37 1 227223298 227223298 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003607.3 -1 reviewed p.F1035L 1.000 134 0% 91 20.9% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,PatternScan_C_TYPE_LECTIN_1,superfamily_SSF57889 CDC42BPA 8476 genome.wustl.edu 37 1 227316840 227316840 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003607.3 -1 reviewed p.E495K 1.000 92 0% 67 40.3% 0 - probably_damaging(0.975) deleterious(0.03) deleterious(0.781) NULL ZNF678 339500 genome.wustl.edu 37 1 227842805 227842805 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178549.3 +1 validated p.R285I 0.992 306 0% 300 23% 0 - benign(0.342) tolerated(0.29) neutral(0.137) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF678 339500 genome.wustl.edu 37 1 227842889 227842889 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178549.3 +1 validated p.R313I 0.789 314 0% 262 11.1% 0 - benign(0.342) tolerated(0.17) neutral(0.167) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF678 339500 genome.wustl.edu 37 1 227843522 227843522 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178549.3 +1 validated p.S524N 0.090 142 0% 142 20.4% 1 0% benign(0.008) tolerated(0.51) neutral(0.009) NULL PRSS38 339501 genome.wustl.edu 37 1 228004928 228004928 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_183062.2 +1 validated p.I110 0.000 55 0% 57 28.1% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys OBSCN 84033 genome.wustl.edu 37 1 228492186 228492186 + Missense_Mutation SNP C C T rs74142694 byCluster;by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000366707 +1 known p.R1419C 0.071 141 0% 159 24.5% 1 0% probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228494709 228494709 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098623.1 +1 reviewed p.R4012C 1.000 11 0% 13 38.5% 0 - probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin TRIM11 81559 genome.wustl.edu 37 1 228584651 228584651 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145214.2 -1 reviewed p.R286* 0.997 47 0% 64 26.6% 19 31.5% - - - HMMSmart_SM00589 NUP133 55746 genome.wustl.edu 37 1 229613384 229613384 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018230.2 -1 reviewed p.Y572 0.884 130 0% 82 26.8% 3 33.3% - - - HMMPfam_Nup133 GALNT2 2590 genome.wustl.edu 37 1 230410232 230410232 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004481.3 +1 reviewed p.D494E 0.990 82 0% 94 18.1% 53 43.3% benign(0) tolerated(0.21) neutral(0.044) HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins COG2 22796 genome.wustl.edu 37 1 230810833 230810833 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007357.2 +1 reviewed p.S330L 0.833 305 0% 329 34% 2 0% possibly_damaging(0.646) deleterious(0.01) deleterious(0.632) NULL AGT 183 genome.wustl.edu 37 1 230841693 230841693 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000029.3 -1 reviewed p.K370N 0.530 164 0% 182 36.8% 32 34.3% benign(0.001) tolerated(0.13) neutral(0.253) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins CAPN9 10753 genome.wustl.edu 37 1 230891101 230891101 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006615.2 +1 reviewed p.E78* 0.982 87 0% 70 22.9% 0 - - - - HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases TTC13 79573 genome.wustl.edu 37 1 231090102 231090102 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024525.4 -1 validated p.R164W 0.998 46 0% 58 27.6% 1 0% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMSmart_SM00028,superfamily_TPR-like C1orf124 83932 genome.wustl.edu 37 1 231488782 231488782 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032018.4 +1 validated p.S382Y 0.079 138 0% 130 22.3% 1 0% possibly_damaging(0.519) deleterious(0.01) deleterious(0.580) NULL C1orf124 83932 genome.wustl.edu 37 1 231488964 231488964 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032018.4 +1 validated p.N443H 0.000 143 0% 130 30% 6 66.6% benign(0.132) tolerated(0.15) neutral(0.252) NULL DISC1 27185 genome.wustl.edu 37 1 231830106 231830106 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018662.2 +1 reviewed p.G201D 0.000 58 0% 79 35.4% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DISC1 27185 genome.wustl.edu 37 1 231931028 231931028 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018662.2 +1 reviewed p.E559* 1.000 19 0% 46 26.1% 0 - - - - superfamily_Prefoldin SIPA1L2 57568 genome.wustl.edu 37 1 232650434 232650434 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020808.3 -1 validated p.E218* 1.000 411 0% 427 10.5% 0 - - - - NULL NTPCR 84284 genome.wustl.edu 37 1 233105829 233105829 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032324.1 +1 provisional p.E157* 1.000 110 0% 112 27.7% 56 3.5% - - - HMMSmart_SM00382,HMMPfam_DUF265,superfamily_P-loop containing nucleoside triphosphate hydrolases SLC35F3 148641 genome.wustl.edu 37 1 234444923 234444923 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173508.2 +1 provisional p.L229I 1.000 127 0% 79 29.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF103481 TARBP1 6894 genome.wustl.edu 37 1 234563072 234563072 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005646.3 -1 reviewed p.V1105A 0.037 88 0% 58 34.5% 0 - benign(0.001) tolerated(0.89) - superfamily_ARM-type_fold ARID4B 51742 genome.wustl.edu 37 1 235345059 235345059 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000474953 -1 known p.S372* 0.558 173 0% 185 22.2% 2 0% - - - NULL ARID4B 51742 genome.wustl.edu 37 1 235345464 235345464 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016374.5 -1 reviewed p.R924* 1.000 379 0% 374 26.2% 1 0% - - - NULL GNG4 2786 genome.wustl.edu 37 1 235715436 235715436 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098721.1 -1 validated p.E67 1.000 367 0% 279 20.8% 0 - - - - HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Transducin (heterotrimeric G protein) gamma chain LYST 1130 genome.wustl.edu 37 1 235916455 235916455 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000081.2 -1 reviewed p.L2450R 1.000 284 0% 187 29.4% 0 - probably_damaging(0.998) - - NULL LYST 1130 genome.wustl.edu 37 1 235955093 235955093 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000081.2 -1 reviewed p.C1483 0.000 251 0% 198 29.8% 0 - - - - NULL LYST 1130 genome.wustl.edu 37 1 235955237 235955237 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000081.2 -1 reviewed p.K1435N 0.977 245 0% 229 35.8% 0 - possibly_damaging(0.702) - - NULL LYST 1130 genome.wustl.edu 37 1 235969320 235969320 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000081.2 -1 reviewed p.L1039S 0.000 342 0% 309 24.3% 0 - benign(0.002) deleterious(0.01) neutral(0.406) NULL LYST 1130 genome.wustl.edu 37 1 235969378 235969378 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000081.2 -1 reviewed p.E1020* 0.311 329 0% 252 21.8% 0 - - - - NULL LYST 1130 genome.wustl.edu 37 1 235969998 235969998 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000081.2 -1 reviewed p.R813Q 1.000 396 0% 289 33.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LYST 1130 genome.wustl.edu 37 1 235972815 235972815 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000081.2 -1 reviewed p.E435* 1.000 235 0% 219 20.1% 0 - - - - NULL LYST 1130 genome.wustl.edu 37 1 235973331 235973331 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000081.2 -1 reviewed p.S263P 1.000 177 0% 143 23.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL NID1 4811 genome.wustl.edu 37 1 236143944 236143944 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002508.2 -1 reviewed p.Y1079* 0.944 96 0% 114 13.2% 11 0% - - - HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain NID1 4811 genome.wustl.edu 37 1 236195790 236195790 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002508.2 -1 reviewed p.S483Y 1.000 83 0% 111 35.1% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G2F,HMMSmart_SM00682,superfamily_GFP-like HEATR1 55127 genome.wustl.edu 37 1 236736127 236736127 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018072.4 -1 validated p.I1154S 1.000 465 0% 415 22.4% 2 0% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) superfamily_ARM-type_fold HEATR1 55127 genome.wustl.edu 37 1 236757370 236757370 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018072.4 -1 validated p.L379V 0.939 138 0% 150 32.7% 0 - probably_damaging(0.981) tolerated(0.07) deleterious(0.744) NULL HEATR1 55127 genome.wustl.edu 37 1 236767298 236767298 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018072.4 -1 validated p.P33H 1.000 53 0% 71 12.7% 3 66.6% probably_damaging(0.977) deleterious(0.01) deleterious(0.825) NULL ACTN2 88 genome.wustl.edu 37 1 236918332 236918332 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001103.2 +1 reviewed p.S663I 1.000 157 0% 157 15.3% 0 - benign(0) tolerated(1) - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat RYR2 6262 genome.wustl.edu 37 1 237754063 237754063 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001035.2 +1 reviewed p.A1311T 0.991 348 0% 287 23.3% 0 - possibly_damaging(0.836) - - NULL RYR2 6262 genome.wustl.edu 37 1 237778053 237778053 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001035.2 +1 reviewed p.L1875 0.004 160 0% 156 24.4% 0 - - - - NULL RYR2 6262 genome.wustl.edu 37 1 237791126 237791126 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001035.2 +1 reviewed p.I2062 0.401 65 0% 53 41.5% 0 - - - - NULL RYR2 6262 genome.wustl.edu 37 1 237813261 237813261 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001035.2 +1 reviewed p.P2533S 0.999 196 0% 213 23% 0 - benign(0.361) - - NULL RYR2 6262 genome.wustl.edu 37 1 237813372 237813372 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001035.2 +1 reviewed p.E2570* 1.000 209 0% 215 34% 0 - - - - NULL RGS7 6000 genome.wustl.edu 37 1 240969482 240969482 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002924.4 -1 validated p.Q409 1.000 117 0% 159 24.5% 0 - - - - HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam RGS7 6000 genome.wustl.edu 37 1 240976985 240976985 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002924.4 -1 validated p.L297I 1.000 99 0% 91 12.1% 0 - benign(0.038) tolerated(0.53) neutral(0.009) HMMPfam_G-gamma,HMMSmart_GGL,superfamily_G-protein_gamma-like FH 2271 genome.wustl.edu 37 1 241675287 241675287 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000143.2 -1 reviewed p.D179N 1.000 498 0% 437 10.3% 36 16.6% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) HMMPfam_Lyase_1,superfamily_L-aspartase-like KMO 8564 genome.wustl.edu 37 1 241728344 241728344 + Missense_Mutation SNP G G C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003679.3 +1 validated p.A225P 1.000 198 0% 125 27.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_FAD/NAD(P)-binding domain WDR64 128025 genome.wustl.edu 37 1 241953963 241953963 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144625.4 +1 validated p.D531N 0.832 462 0% 478 21.5% 0 - probably_damaging(0.959) tolerated(0.98) neutral(0.403) NULL CEP170 9859 genome.wustl.edu 37 1 243328552 243328552 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014812.2 -1 reviewed p.L904I 1.000 294 0% 280 22.5% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL CEP170 9859 genome.wustl.edu 37 1 243349493 243349493 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000321628 -1 known p.S415Y 1.000 128 0% 152 27% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL SDCCAG8 10806 genome.wustl.edu 37 1 243581364 243581364 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006642.2 +1 validated p.I613 0.996 204 0% 185 31.9% 1 100% - - - NULL AKT3 10000 genome.wustl.edu 37 1 243716094 243716094 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005465.3 -1 reviewed p.R367Q 1.000 231 0% 172 28.5% 0 - possibly_damaging(0.876) tolerated(0.57) neutral(0.347) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase C1orf100 200159 genome.wustl.edu 37 1 244541846 244541846 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001012970.1 +1 predicted p.R77Q 0.002 91 0% 91 13.2% 0 - benign(0.037) tolerated(0.22) neutral(0.044) NULL C1orf101 257044 genome.wustl.edu 37 1 244747200 244747200 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130957.1 +1 validated p.R682* 0.004 77 0% 73 31.5% 0 - - - - NULL HNRNPU 3192 genome.wustl.edu 37 1 245019767 245019767 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031844.2 -1 reviewed p.K635T 1.000 188 0% 211 10% 107 14.9% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) superfamily_P-loop containing nucleoside triphosphate hydrolases HNRNPU 3192 genome.wustl.edu 37 1 245022653 245022653 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031844.2 -1 reviewed p.R347 1.000 70 0% 72 20.8% 40 32.5% - - - HMMPfam_SPRY,HMMSmart_SM00449 HNRNPU 3192 genome.wustl.edu 37 1 245023760 245023760 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031844.2 -1 reviewed p.H298 1.000 81 0% 65 13.8% 20 15% - - - NULL TFB2M 64216 genome.wustl.edu 37 1 246704484 246704484 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022366.2 -1 validated p.A347V 0.002 52 0% 48 31.2% 9 44.4% possibly_damaging(0.898) tolerated(0.12) deleterious(0.615) HMMPfam_RrnaAD,superfamily_SSF53335 CNST 163882 genome.wustl.edu 37 1 246810457 246810457 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152609.2 +1 validated p.L318 0.125 249 0% 186 25.8% 3 0% - - - NULL AHCTF1 25909 genome.wustl.edu 37 1 247014690 247014690 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015446.4 -1 validated p.L1540I 0.355 98 1% 76 27.6% 0 - probably_damaging(0.955) tolerated(0.11) deleterious(0.670) NULL AHCTF1 25909 genome.wustl.edu 37 1 247081635 247081635 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015446.4 -1 validated p.L13P 1.000 87 1.1% 88 29.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF695 57116 genome.wustl.edu 37 1 247151061 247151061 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020394.3 -1 validated p.C252 0.000 184 0% 185 21.1% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF695 57116 genome.wustl.edu 37 1 247151529 247151529 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020394.3 -1 validated p.I96M 0.000 288 0% 258 34.5% 2 0% probably_damaging(0.953) deleterious(0.01) deleterious(0.802) NULL ZNF695 57116 genome.wustl.edu 37 1 247162740 247162740 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020394.3 -1 validated p.L57I 0.723 167 0% 192 32.3% 4 0% benign(0.186) tolerated(0.47) neutral(0.029) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF124 7678 genome.wustl.edu 37 1 247320499 247320499 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003431.2 -1 provisional p.R80I 0.935 187 0% 173 18.5% 1 0% possibly_damaging(0.752) deleterious(0.03) deleterious(0.641) superfamily_C2H2 and C2HC zinc fingers NLRP3 114548 genome.wustl.edu 37 1 247587612 247587612 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001079821.2 +1 reviewed p.K289N 0.957 141 0% 129 21.7% 0 - possibly_damaging(0.868) tolerated(0.06) deleterious(0.659) HMMPfam_NACHT OR2W5 441932 genome.wustl.edu 37 1 247655135 247655135 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004698.2 +1 validated p.E236* 0.902 174 0% 186 11.3% 0 - - - - HMMPfam_7tm_1 OR2C3 81472 genome.wustl.edu 37 1 247694974 247694974 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198074.4 -1 validated p.T280 0.022 107 0% 135 11.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2G3 81469 genome.wustl.edu 37 1 247769295 247769295 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001914.1 +1 provisional p.M136I 0.984 491 0% 513 11.7% 0 - benign(0.323) tolerated(0.07) neutral(0.420) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2G3 81469 genome.wustl.edu 37 1 247769473 247769473 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001914.1 +1 provisional p.E196* 0.399 235 0% 236 38.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1C1 26188 genome.wustl.edu 37 1 247921142 247921142 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012353.2 -1 validated p.C189 0.950 125 0% 139 20.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2L5 81466 genome.wustl.edu 37 1 248185996 248185996 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000355281 +1 known p.F249L 0.138 305 0% 302 29.8% 0 - benign(0.006) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 OR2L3 391192 genome.wustl.edu 37 1 248224045 248224045 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004687.1 +1 provisional p.R21I 0.185 966 0% 1076 19.7% 0 - benign(0.001) tolerated(0.16) neutral(0.059) superfamily_Family A G protein-coupled receptor-like OR2L3 391192 genome.wustl.edu 37 1 248224664 248224664 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004687.1 +1 provisional p.M227I 0.002 351 0% 447 19.9% 0 - possibly_damaging(0.929) deleterious(0.02) deleterious(0.759) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2L3 391192 genome.wustl.edu 37 1 248224777 248224777 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004687.1 +1 provisional p.R265Q 0.003 267 0% 311 32.8% 0 - benign(0.151) deleterious(0.05) neutral(0.359) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2L3 391192 genome.wustl.edu 37 1 248224900 248224900 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004687.1 +1 provisional p.R306I 0.003 184 0% 193 29% 0 - possibly_damaging(0.936) deleterious(0) deleterious(0.826) superfamily_Family A G protein-coupled receptor-like OR2T12 127064 genome.wustl.edu 37 1 248458370 248458370 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004692.1 -1 provisional p.E171K 0.002 89 0% 108 28.7% 0 - possibly_damaging(0.872) tolerated(0.28) neutral(0.371) HMMPfam_7tm_1,superfamily_SSF81321 OR14C36 127066 genome.wustl.edu 37 1 248512779 248512779 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001918.1 +1 provisional p.A235T 1.000 229 0% 143 23.8% 0 - probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_7tm_1,superfamily_SSF81321 OR2T1 26696 genome.wustl.edu 37 1 248569781 248569781 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030904.1 +1 provisional p.F162L 0.000 285 0% 181 14.9% 0 - probably_damaging(0.994) tolerated(0.2) deleterious(0.501) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR2T1 26696 genome.wustl.edu 37 1 248570338 248570338 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030904.1 +1 provisional p.T348N 0.003 356 0% 200 30.5% 0 - benign(0.382) tolerated(0.25) neutral(0.159) superfamily_SSF81321 OR2T2 401992 genome.wustl.edu 37 1 248616384 248616384 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004136.1 +1 provisional p.L96M 0.000 535 0% 444 18% 0 - possibly_damaging(0.911) tolerated(0.11) deleterious(0.635) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2G6 391211 genome.wustl.edu 37 1 248685393 248685393 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013355.1 +1 validated p.W149* 0.939 100 0% 131 10.7% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR14I1 401994 genome.wustl.edu 37 1 248844983 248844983 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004734.1 -1 provisional p.C208Y 0.096 161 0% 155 37.4% 0 - possibly_damaging(0.938) deleterious(0) deleterious(0.828) HMMPfam_7tm_1,superfamily_SSF81321 ACP1 52 genome.wustl.edu 37 2 272202 272202 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007099.3 +1 reviewed p.D43G 1.000 35 0% 38 39.5% 22 68.1% unknown(0) tolerated(0.22) - HMMPfam_LMWPc,HMMSmart_SM00226,superfamily_Phosphotyrosine protein phosphatases I SNTG2 54221 genome.wustl.edu 37 2 1161247 1161247 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018968.3 +1 reviewed p.R142I 1.000 231 0% 252 32.9% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like SNTG2 54221 genome.wustl.edu 37 2 1251121 1251121 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018968.3 +1 reviewed p.N304I 0.766 110 0% 147 30.6% 0 - benign(0.001) deleterious(0.01) neutral(0.406) NULL PXDN 7837 genome.wustl.edu 37 2 1680719 1680719 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012293.1 -1 validated p.E276D 1.000 16 0% 23 26.1% 4 0% benign(0.422) tolerated(0.08) neutral(0.437) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin RNASEH1 246243 genome.wustl.edu 37 2 3593443 3593443 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002936.3 -1 validated p.S265A 0.956 189 0% 197 30.5% 28 46.4% benign(0.006) tolerated(1) - HMMPfam_RnaseH,superfamily_Ribonuclease H-like KIDINS220 57498 genome.wustl.edu 37 2 8931200 8931200 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020738.2 -1 validated p.K477N 1.000 481 0% 234 22.2% 0 - benign(0.307) tolerated(0.48) neutral(0.106) HMMPfam_KAP_NTPase ASAP2 8853 genome.wustl.edu 37 2 9484907 9484907 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003887.2 +1 reviewed p.F334C 1.000 84 0% 94 28.7% 6 66.6% benign(0.001) tolerated(0.32) neutral(0.024) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like IAH1 285148 genome.wustl.edu 37 2 9624570 9624570 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039613.1 +1 provisional p.L152R 0.965 98 0% 91 19.8% 139 50.3% probably_damaging(0.982) deleterious(0.02) deleterious(0.809) HMMPfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type ADAM17 6868 genome.wustl.edu 37 2 9642317 9642317 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003183.4 -1 reviewed p.V545M 1.000 523 0% 544 21.5% 16 12.5% benign(0.051) deleterious(0.04) neutral(0.352) HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin) ADAM17 6868 genome.wustl.edu 37 2 9658087 9658087 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003183.4 -1 reviewed p.I378 1.000 277 0% 240 27.5% 1 0% - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" TAF1B 9014 genome.wustl.edu 37 2 10074044 10074044 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005680.2 +1 reviewed p.K566N 1.000 90 0% 114 29.8% 0 - possibly_damaging(0.923) tolerated(0.09) deleterious(0.669) NULL RRM2 6241 genome.wustl.edu 37 2 10269068 10269068 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001034.3 +1 reviewed p.R298W 0.880 101 0% 117 29.9% 11 45.4% possibly_damaging(0.836) deleterious(0) deleterious(0.764) HMMPfam_Ribonuc_red_sm,superfamily_Ferritin/RR_like NOL10 79954 genome.wustl.edu 37 2 10712202 10712202 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024894.2 -1 validated p.H688N 1.000 366 0% 372 34.7% 16 75% possibly_damaging(0.462) deleterious(0.03) deleterious(0.516) NULL PDIA6 10130 genome.wustl.edu 37 2 10928877 10928877 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005742.2 -1 validated p.S315Y 1.000 413 0% 549 26.4% 177 45.7% possibly_damaging(0.776) deleterious(0.02) deleterious(0.672) superfamily_Thioredoxin-like ROCK2 9475 genome.wustl.edu 37 2 11341489 11341489 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004850.3 -1 reviewed p.K890N 1.000 138 0% 137 29.9% 2 0% possibly_damaging(0.855) deleterious(0.03) deleterious(0.695) NULL ROCK2 9475 genome.wustl.edu 37 2 11427861 11427861 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004850.3 -1 reviewed p.D48G 1.000 130 0% 74 33.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL GREB1 9687 genome.wustl.edu 37 2 11780484 11780484 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014668.3 +1 reviewed p.L1918 1.000 50 0% 63 23.8% 22 45.4% - - - NULL FAM49A 81553 genome.wustl.edu 37 2 16742478 16742478 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030797.3 -1 validated p.T194M 0.999 238 0% 205 26.8% 0 - possibly_damaging(0.651) deleterious(0.02) deleterious(0.612) HMMPfam_DUF1394 FAM49A 81553 genome.wustl.edu 37 2 16745332 16745332 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030797.3 -1 validated p.Q75K 1.000 107 0% 99 23.2% 1 0% probably_damaging(0.994) tolerated(0.13) deleterious(0.705) HMMPfam_DUF1394 RAD51AP2 729475 genome.wustl.edu 37 2 17696637 17696637 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099218.2 -1 provisional p.D1016Y 0.013 267 0% 146 28.8% 0 - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL RAD51AP2 729475 genome.wustl.edu 37 2 17696898 17696898 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099218.2 -1 provisional p.H929N 0.016 215 0% 106 40.6% 0 - benign(0.176) deleterious(0) neutral(0.461) NULL RAD51AP2 729475 genome.wustl.edu 37 2 17698843 17698843 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099218.2 -1 provisional p.K280N 0.897 201 0% 132 34.8% 0 - possibly_damaging(0.798) deleterious(0) deleterious(0.745) NULL WDR35 57539 genome.wustl.edu 37 2 20178610 20178610 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001006657.1 -1 reviewed p.R113Q 1.000 213 0% 244 29.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like APOB 338 genome.wustl.edu 37 2 21224756 21224756 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000384.2 -1 reviewed p.F4513C 0.811 195 0% 104 34.6% 0 - possibly_damaging(0.741) - - NULL APOB 338 genome.wustl.edu 37 2 21225596 21225596 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000384.2 -1 reviewed p.S4233L 0.000 153 0% 113 19.5% 0 - benign(0.014) - - NULL APOB 338 genome.wustl.edu 37 2 21228965 21228965 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000384.2 -1 reviewed p.S3592F 0.238 135 0% 84 25% 0 - probably_damaging(0.991) - - NULL APOB 338 genome.wustl.edu 37 2 21229717 21229717 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000384.2 -1 reviewed p.F3341L 1.000 306 0% 225 33.8% 0 - probably_damaging(0.998) - - NULL APOB 338 genome.wustl.edu 37 2 21229988 21229988 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000384.2 -1 reviewed p.Y3251C 1.000 141 0% 111 27.9% 0 - probably_damaging(0.998) - - NULL APOB 338 genome.wustl.edu 37 2 21231230 21231230 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000384.2 -1 reviewed p.T2837M 0.001 489 0% 383 13.8% 0 - benign(0.313) - - NULL APOB 338 genome.wustl.edu 37 2 21234034 21234034 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000384.2 -1 reviewed p.P1902 0.006 373 0.5% 383 28.2% 0 - - - - NULL APOB 338 genome.wustl.edu 37 2 21234577 21234577 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000384.2 -1 reviewed p.V1721 0.000 552 0% 543 22.7% 0 - - - - NULL APOB 338 genome.wustl.edu 37 2 21235442 21235442 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000384.2 -1 reviewed p.S1433L 0.972 252 0% 191 32.5% 0 - probably_damaging(0.99) - - NULL ATAD2B 54454 genome.wustl.edu 37 2 23980358 23980358 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017552.1 -1 validated p.E1336D 0.622 586 0% 411 28.2% 1 100% benign(0.007) tolerated(0.38) neutral(0.018) NULL C2orf44 80304 genome.wustl.edu 37 2 24253986 24253986 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142319.1 -1 validated p.R622H 0.000 89 0% 114 20.2% 0 - unknown(0) - - NULL C2orf44 80304 genome.wustl.edu 37 2 24261749 24261749 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025203.2 -1 validated p.V206I 0.028 113 0% 130 13.8% 0 - possibly_damaging(0.48) tolerated(1) neutral(0.159) NULL NCOA1 8648 genome.wustl.edu 37 2 24888780 24888780 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003743.4 +1 reviewed p.E84 1.000 200 0% 166 26.5% 0 - - - - HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain DTNB 1838 genome.wustl.edu 37 2 25799719 25799719 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021907.3 -1 reviewed p.E288 1.000 25 0% 28 53.6% 13 23% - - - NULL DTNB 1838 genome.wustl.edu 37 2 25819072 25819072 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021907.3 -1 reviewed p.M162I 1.000 114 0% 63 28.6% 7 14.2% benign(0.23) deleterious(0.01) neutral(0.429) HMMPfam_efhand_2,superfamily_EF-hand ASXL2 55252 genome.wustl.edu 37 2 25978930 25978930 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018263.4 -1 validated p.F331L 1.000 200 0% 239 20.5% 0 - unknown(0) deleterious(0) - NULL ASXL2 55252 genome.wustl.edu 37 2 26068393 26068393 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018263.4 -1 validated p.E33* 1.000 53 0% 40 32.5% 0 - - - - NULL KIF3C 3797 genome.wustl.edu 37 2 26204243 26204243 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002254.6 -1 validated p.S182P 1.000 98 0% 102 22.5% 0 - probably_damaging(0.982) deleterious(0.02) deleterious(0.809) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases LOC391359 391359 genome.wustl.edu 37 2 26363996 26363996 + Silent SNP C C T rs191916313 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001721740.1 -1 model p.T46 0.025 52 0% 74 16.2% 0 - - - - HMMPfam_PMP22_Claudin CCDC164 92749 genome.wustl.edu 37 2 26644155 26644155 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145038.2 +1 validated e3-1 1.000 74 0% 76 25% 0 - - - - - CCDC164 92749 genome.wustl.edu 37 2 26676368 26676368 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145038.2 +1 validated p.D624Y 0.952 40 0% 37 13.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KHK 3795 genome.wustl.edu 37 2 27322561 27322561 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000221.2 +1 reviewed p.F280 0.965 19 0% 24 41.7% 2 50% - - - HMMPfam_PfkB,superfamily_Ribokinase-like CAD 790 genome.wustl.edu 37 2 27447335 27447335 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004341.3 +1 reviewed p.E411* 1.000 83 0% 113 28.3% 0 - - - - HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp-like CAD 790 genome.wustl.edu 37 2 27457442 27457442 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004341.3 +1 reviewed p.F1225 0.999 114 0% 117 38.5% 6 0% - - - HMMPfam_CPSase_L_D2,superfamily_SSF56059 CAD 790 genome.wustl.edu 37 2 27465748 27465748 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000428460 +1 known p.S197L 0.999 48 0% 45 26.7% 103 21.3% - - - superfamily_Aspartate/ornithine carbamoyltransferase,HMMPfam_OTCace EIF2B4 8890 genome.wustl.edu 37 2 27587628 27587628 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_172195.3 -1 reviewed p.F463L 1.000 106 0% 136 22.1% 176 46% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_IF-2B,superfamily_NagB/RpiA/CoA transferase-like NRBP1 29959 genome.wustl.edu 37 2 27664438 27664438 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013392.2 +1 validated p.E484D 1.000 265 0% 373 11.8% 167 22.7% benign(0.001) tolerated(1) - NULL IFT172 26160 genome.wustl.edu 37 2 27683889 27683889 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015662.1 -1 validated p.F838L 1.000 209 0% 204 19.6% 2 0% probably_damaging(0.973) deleterious(0.01) deleterious(0.821) superfamily_TPR-like GCKR 2646 genome.wustl.edu 37 2 27730613 27730613 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000411584 +1 known p.S104L 0.126 53 0% 71 38% 0 - - - - superfamily_SIS domain C2orf16 84226 genome.wustl.edu 37 2 27803661 27803661 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032266.3 +1 validated p.D1408Y 0.171 162 0% 144 17.4% 0 - probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL C2orf16 84226 genome.wustl.edu 37 2 27803909 27803909 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032266.3 +1 validated p.F1490L 0.000 238 0% 220 29.1% 0 - benign(0.008) deleterious(0.01) neutral(0.406) NULL C2orf16 84226 genome.wustl.edu 37 2 27804106 27804106 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032266.3 +1 validated p.R1556I 0.007 275 0% 295 28.1% 1 100% unknown(0) deleterious(0) - NULL GPN1 11321 genome.wustl.edu 37 2 27861838 27861838 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007266.3 +1 reviewed p.Y233* 0.927 154 0% 153 34.6% 8 0% - - - HMMPfam_ATP_bind_1 SLC4A1AP 22950 genome.wustl.edu 37 2 27887982 27887982 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018158.2 +1 validated p.R281* 0.999 278 0% 208 26% 15 0% - - - superfamily_SMAD_FHA SLC4A1AP 22950 genome.wustl.edu 37 2 27898421 27898421 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018158.2 +1 validated p.K456N 1.000 164 0% 185 29.7% 3 33.3% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL SLC4A1AP 22950 genome.wustl.edu 37 2 27907903 27907903 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018158.2 +1 validated e10-1 1.000 209 0% 209 23.4% 0 - - - - - BRE 9577 genome.wustl.edu 37 2 28210873 28210873 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004899.3 +1 validated p.F73L 1.000 777 0% 707 30.3% 8 12.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_BRE BRE 9577 genome.wustl.edu 37 2 28464260 28464260 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004899.3 +1 validated p.T284I 1.000 111 0% 85 28.2% 36 41.6% benign(0.075) tolerated(0.21) neutral(0.049) HMMPfam_BRE PLB1 151056 genome.wustl.edu 37 2 28808689 28808689 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153021.4 +1 validated p.E599* 0.000 101 0% 64 15.6% 1 0% - - - HMMPfam_Lipase_GDSL,superfamily_SGNH hydrolase FAM179A 165186 genome.wustl.edu 37 2 29245093 29245093 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_199280.2 +1 validated p.R477I 0.005 118 0% 105 28.6% 0 - possibly_damaging(0.464) tolerated(0.42) neutral(0.167) superfamily_ARM repeat CLIP4 79745 genome.wustl.edu 37 2 29379237 29379237 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024692.4 +1 validated p.K395Q 0.999 211 0% 107 41.1% 0 - possibly_damaging(0.816) tolerated(0.08) deleterious(0.609) NULL ALK 238 genome.wustl.edu 37 2 29473997 29473997 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004304.3 -1 reviewed p.W726C 1.000 35 0% 31 32.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ENSG00000207187 0 genome.wustl.edu 37 2 30410405 30410405 + RNA SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000384458 +1 novel NULL 1.000 28 0% 36 22.2% 0 - - - - - LCLAT1 253558 genome.wustl.edu 37 2 30785079 30785079 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182551.3 +1 validated p.F182 1.000 240 0% 209 23% 1 100% - - - HMMPfam_Acyltransferase,HMMSmart_SM00563,superfamily_Glycerol-3-phosphate (1)-acyltransferase BIRC6 57448 genome.wustl.edu 37 2 32626420 32626420 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016252.3 +1 reviewed p.K408N 1.000 404 0% 342 30.4% 0 - probably_damaging(0.978) tolerated(0.26) neutral(0.455) NULL BIRC6 57448 genome.wustl.edu 37 2 32640323 32640323 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016252.3 +1 reviewed p.K655T 1.000 145 0% 145 20% 1 100% probably_damaging(0.978) deleterious(0.02) deleterious(0.803) NULL BIRC6 57448 genome.wustl.edu 37 2 32656134 32656134 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016252.3 +1 reviewed p.R1075Q 0.982 54 0% 74 14.9% 0 - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) NULL BIRC6 57448 genome.wustl.edu 37 2 32658722 32658722 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016252.3 +1 reviewed p.D1087N 1.000 61 0% 49 24.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BIRC6 57448 genome.wustl.edu 37 2 32667430 32667430 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016252.3 +1 reviewed p.R1382Q 1.000 66 0% 47 46.8% 0 - benign(0.068) tolerated(0.62) neutral(0.009) NULL BIRC6 57448 genome.wustl.edu 37 2 32735649 32735649 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016252.3 +1 reviewed p.I3432L 0.979 400 0% 340 23.5% 0 - benign(0.011) tolerated(0.22) neutral(0.043) NULL BIRC6 57448 genome.wustl.edu 37 2 32768509 32768509 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016252.3 +1 reviewed p.L4165I 1.000 384 0.3% 395 21.8% 5 20% benign(0.026) deleterious(0.02) neutral(0.384) NULL CRIM1 51232 genome.wustl.edu 37 2 36726408 36726408 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016441.1 +1 provisional p.S473 0.957 375 0% 348 25.6% 10 40% - - - HMMPfam_Antistasin HEATR5B 54497 genome.wustl.edu 37 2 37235808 37235808 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019024.1 -1 validated p.D1490Y 1.000 137 0% 128 30.5% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat CEBPZ 10153 genome.wustl.edu 37 2 37438169 37438169 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005760.2 -1 validated p.D953Y 0.906 134 0% 135 24.4% 11 18.1% possibly_damaging(0.8) deleterious(0.01) deleterious(0.707) NULL PRKD3 23683 genome.wustl.edu 37 2 37494641 37494641 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005813.3 -1 reviewed p.V606L 1.000 260 0% 261 25.3% 1 0% benign(0.003) tolerated(0.12) neutral(0.261) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PRKD3 23683 genome.wustl.edu 37 2 37499573 37499573 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005813.3 -1 reviewed p.D552Y 1.000 89 0% 45 26.7% 4 0% possibly_damaging(0.688) deleterious(0.01) deleterious(0.651) NULL PRKD3 23683 genome.wustl.edu 37 2 37518090 37518090 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005813.3 -1 reviewed p.H160Q 1.000 155 0% 138 30.4% 2 100% possibly_damaging(0.949) deleterious(0.04) deleterious(0.742) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain CDC42EP3 10602 genome.wustl.edu 37 2 37873326 37873326 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006449.3 -1 reviewed p.F135 0.146 104 0% 81 30.9% 6 16.6% - - - NULL CDKL4 344387 genome.wustl.edu 37 2 39440540 39440540 + Splice_Site SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001009565.1 -1 provisional e3+1 0.999 121 0% 131 28.2% 0 - - - - - MAP4K3 8491 genome.wustl.edu 37 2 39487798 39487798 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003618.2 -1 reviewed p.R753* 1.000 67 0% 44 34.1% 4 0% - - - HMMPfam_CNH,HMMSmart_SM00036 THUMPD2 80745 genome.wustl.edu 37 2 39997096 39997096 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025264.4 -1 validated p.I112 0.001 143 0% 86 26.7% 0 - - - - NULL EML4 27436 genome.wustl.edu 37 2 42543130 42543130 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019063.3 +1 validated p.D666Y 1.000 97 0% 100 16% 10 60% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMSmart_SM00320,superfamily_WD40 repeat-like THADA 63892 genome.wustl.edu 37 2 43458127 43458127 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001083953.1 -1 validated p.S1941L 0.000 52 0% 64 26.6% 50 34% benign(0.002) tolerated(0.08) neutral(0.300) NULL PLEKHH2 130271 genome.wustl.edu 37 2 43927114 43927114 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_172069.3 +1 validated p.E339D 0.994 109 0% 132 13.6% 0 - possibly_damaging(0.945) tolerated(0.4) neutral(0.406) NULL PLEKHH2 130271 genome.wustl.edu 37 2 43969927 43969927 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_172069.3 +1 validated p.R1090I 1.000 119 0% 95 29.5% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_MyTH4,HMMSmart_SM00139 ABCG5 64240 genome.wustl.edu 37 2 44051398 44051398 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022436.2 -1 reviewed p.D360Y 1.000 179 0% 139 32.4% 0 - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL LRPPRC 10128 genome.wustl.edu 37 2 44170950 44170950 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133259.3 -1 reviewed p.N794H 1.000 218 0% 147 36.1% 17 35.2% probably_damaging(1) tolerated(0.09) deleterious(0.796) superfamily_SSF48452 LRPPRC 10128 genome.wustl.edu 37 2 44201430 44201430 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133259.3 -1 reviewed p.A338 0.973 130 0% 88 23.9% 4 0% - - - superfamily_SSF48452 LRPPRC 10128 genome.wustl.edu 37 2 44204348 44204348 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133259.3 -1 reviewed p.F179L 0.997 115 0% 73 17.8% 3 100% benign(0.052) deleterious(0) neutral(0.448) HMMPfam_PPR,superfamily_SSF48452 SLC3A1 6519 genome.wustl.edu 37 2 44513288 44513288 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000341.3 +1 reviewed p.E295* 1.000 162 0% 155 27.1% 0 - - - - HMMPfam_Alpha-amylase,HMMSmart_Aamy,superfamily_Glyco_hydro_cat RHOQ 23433 genome.wustl.edu 37 2 46803328 46803328 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012249.3 +1 validated p.E102K 1.000 265 0% 196 27% 3 66.6% benign(0.015) tolerated(1) neutral(0.001) HMMSmart_RHO,HMMPfam_Ras,superfamily_SSF52540 PIGF 5281 genome.wustl.edu 37 2 46840890 46840890 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002643.3 -1 reviewed p.L88R 1.000 29 0% 29 13.8% 12 8.3% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_PIG-F SOCS5 9655 genome.wustl.edu 37 2 46986094 46986094 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014011.4 +1 reviewed p.F142C 0.684 171 0% 136 26.5% 2 50% benign(0.11) tolerated(0.17) neutral(0.068) NULL SOCS5 9655 genome.wustl.edu 37 2 46986955 46986955 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014011.4 +1 reviewed p.R429Q 1.000 204 0% 225 29.3% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain MSH2 4436 genome.wustl.edu 37 2 47690275 47690275 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000251.1 +1 reviewed p.S498R 0.669 144 0% 133 32.3% 2 0% benign(0) tolerated(0.67) neutral(0.003) HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII,HMMPfam_MutS_IV MSH2 4436 genome.wustl.edu 37 2 47698123 47698123 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000251.1 +1 reviewed p.E561* 1.000 118 0% 107 25.2% 0 - - - - HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII,HMMPfam_MutS_IV MSH6 2956 genome.wustl.edu 37 2 48027958 48027958 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000179.2 +1 reviewed p.E946* 0.988 275 0% 290 27.9% 5 0% - - - HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III,HMMPfam_MutS_IV FBXO11 80204 genome.wustl.edu 37 2 48035337 48035337 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025133.3 -1 reviewed p.A818S 1.000 440 0% 327 24.2% 22 40.9% benign(0.136) tolerated(0.15) neutral(0.253) HMMPfam_zf-UBR FBXO11 80204 genome.wustl.edu 37 2 48036770 48036770 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025133.3 -1 reviewed p.F721L 1.000 246 0% 194 29.4% 2 0% possibly_damaging(0.737) tolerated(0.62) neutral(0.274) HMMSmart_PbH1,HMMSmart_CASH,superfamily_Pectin_lyas_like,superfamily_SSF81383 PPP1R21 129285 genome.wustl.edu 37 2 48725735 48725735 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135629.1 +1 validated p.R599Q 0.983 111 0% 105 32.4% 10 20% possibly_damaging(0.837) tolerated(0.06) deleterious(0.642) HMMPfam_TTKRSYEDQ PPP1R21 129285 genome.wustl.edu 37 2 48738580 48738580 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135629.1 +1 validated p.E762D 1.000 341 0% 341 24% 8 25% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMPfam_TTKRSYEDQ STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48808302 48808302 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_172311.1 +1 reviewed p.R177Q 0.027 108 0% 157 28.7% 0 - possibly_damaging(0.563) tolerated(0.59) neutral(0.197) NULL GTF2A1L 11036 genome.wustl.edu 37 2 48848455 48848455 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000437125 +1 known p.Y91* 0.000 112 0% 113 22.1% 0 - - - - HMMPfam_TFIIA STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48897084 48897084 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_172311.1 +1 reviewed p.S1105I 1.000 198 0% 218 24.3% 0 - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_TFIIA LHCGR 3973 genome.wustl.edu 37 2 48915211 48915211 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000233.3 -1 reviewed p.I575 1.000 479 0.2% 360 22.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NRXN1 9378 genome.wustl.edu 37 2 50149200 50149200 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135659.1 -1 reviewed p.R1509Q 1.000 225 0% 158 27.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_4.1m NRXN1 9378 genome.wustl.edu 37 2 50280600 50280600 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135659.1 -1 reviewed p.E1353K 1.000 100 0% 111 41.4% 0 - benign(0.07) tolerated(0.05) neutral(0.350) NULL NRXN1 9378 genome.wustl.edu 37 2 50464081 50464081 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135659.1 -1 reviewed p.G1171V 1.000 216 0% 181 19.9% 0 - probably_damaging(0.963) deleterious(0) deleterious(0.850) superfamily_ConA_like_lec_gl NRXN1 9378 genome.wustl.edu 37 2 50850606 50850606 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135659.1 -1 reviewed p.S360L 1.000 271 0% 263 20.9% 0 - benign(0.268) deleterious(0.02) neutral(0.412) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 GPR75 10936 genome.wustl.edu 37 2 54081673 54081673 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006794.2 -1 validated p.K74T 1.000 83 0% 120 33.3% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PSME4 23198 genome.wustl.edu 37 2 54114425 54114425 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014614.2 -1 validated p.R1567Q 1.000 248 0% 260 26.5% 14 35.7% possibly_damaging(0.904) tolerated(0.21) neutral(0.402) superfamily_ARM repeat PSME4 23198 genome.wustl.edu 37 2 54115124 54115124 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014614.2 -1 validated p.R1464Q 1.000 287 0% 249 20.5% 24 20.8% probably_damaging(0.982) tolerated(0.1) deleterious(0.713) superfamily_ARM repeat PSME4 23198 genome.wustl.edu 37 2 54119980 54119980 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014614.2 -1 validated p.L1386 0.211 298 0% 217 28.6% 6 66.6% - - - superfamily_ARM repeat PSME4 23198 genome.wustl.edu 37 2 54150513 54150513 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014614.2 -1 validated p.F618C 1.000 65 0% 60 23.3% 0 - unknown(0) - - NULL TSPYL6 388951 genome.wustl.edu 37 2 54482401 54482401 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001003937.2 -1 validated p.F296L 0.984 206 0% 209 26.3% 0 - probably_damaging(0.987) tolerated(0.53) neutral(0.444) HMMPfam_NAP SPTBN1 6711 genome.wustl.edu 37 2 54849587 54849587 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003128.2 +1 reviewed p.A343T 1.000 280 0.4% 243 22.6% 1 0% benign(0.057) tolerated(0.12) neutral(0.264) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN1 6711 genome.wustl.edu 37 2 54871685 54871685 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003128.2 +1 reviewed p.D1411Y 1.000 200 0% 178 30.3% 9 11.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN1 6711 genome.wustl.edu 37 2 54893178 54893178 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003128.2 +1 reviewed p.C2262 0.993 278 0% 248 21% 91 16.4% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like RTN4 57142 genome.wustl.edu 37 2 55252930 55252930 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020532.4 -1 reviewed p.E769* 0.933 203 0% 229 32.3% 0 - - - - NULL RTN4 57142 genome.wustl.edu 37 2 55253156 55253156 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020532.4 -1 reviewed p.P693 1.000 256 0% 296 23.6% 0 - - - - NULL RTN4 57142 genome.wustl.edu 37 2 55254283 55254283 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020532.4 -1 reviewed p.N318H 0.000 143 0% 138 26.8% 0 - possibly_damaging(0.677) tolerated(0.25) neutral(0.278) NULL C2orf63 130162 genome.wustl.edu 37 2 55436830 55436830 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152385.2 -1 validated p.E213* 0.995 314 0% 314 23.2% 1 0% - - - NULL C2orf63 130162 genome.wustl.edu 37 2 55436916 55436916 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152385.2 -1 validated p.K184T 0.017 188 0% 174 33.3% 0 - benign(0.004) tolerated(0.55) neutral(0.007) NULL CCDC88A 55704 genome.wustl.edu 37 2 55518869 55518869 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135597.1 -1 validated p.S1864Y 1.000 79 0% 68 25% 6 0% probably_damaging(0.991) tolerated(0.07) deleterious(0.763) NULL CCDC88A 55704 genome.wustl.edu 37 2 55522978 55522978 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135597.1 -1 validated p.S1768Y 1.000 161 0% 139 34.5% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL CCDC88A 55704 genome.wustl.edu 37 2 55528365 55528365 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135597.1 -1 validated p.S1573Y 1.000 76 0% 60 31.7% 0 - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL CCDC88A 55704 genome.wustl.edu 37 2 55544424 55544424 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135597.1 -1 validated p.E1221* 1.000 141 0% 103 26.2% 0 - - - - NULL CCDC88A 55704 genome.wustl.edu 37 2 55555447 55555447 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135597.1 -1 validated p.R993C 1.000 45 0% 41 26.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC88A 55704 genome.wustl.edu 37 2 55571543 55571543 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135597.1 -1 validated p.E383D 1.000 141 0% 83 37.3% 0 - possibly_damaging(0.515) deleterious(0.04) deleterious(0.522) NULL CCDC88A 55704 genome.wustl.edu 37 2 55573406 55573406 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135597.1 -1 validated p.R316* 0.999 297 0% 202 28.7% 0 - - - - NULL PNPT1 87178 genome.wustl.edu 37 2 55863478 55863478 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033109.3 -1 validated p.R749Q 1.000 40 0% 45 11.1% 29 51.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Nucleic_acid_OB,HMMSmart_S1 PNPT1 87178 genome.wustl.edu 37 2 55871819 55871819 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033109.3 -1 validated p.F620C 1.000 136 0% 158 19.6% 7 28.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 BCL11A 53335 genome.wustl.edu 37 2 60689482 60689482 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022893.3 -1 reviewed p.A189T 1.000 34 0% 74 20.3% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PAPOLG 64895 genome.wustl.edu 37 2 61009111 61009111 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022894.2 +1 reviewed p.R333Q 1.000 259 0% 308 33.8% 4 0% probably_damaging(0.996) tolerated(0.08) deleterious(0.762) HMMPfam_PAP_central,superfamily_PAP/OAS1 substrate-binding domain PAPOLG 64895 genome.wustl.edu 37 2 61021867 61021867 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022894.2 +1 reviewed p.F671S 0.996 255 0% 269 26.8% 1 100% benign(0.002) tolerated(0.42) neutral(0.014) NULL REL 5966 genome.wustl.edu 37 2 61147190 61147190 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002908.2 +1 validated p.K290E 1.000 305 0% 325 31.1% 0 - probably_damaging(0.996) tolerated(0.2) deleterious(0.511) superfamily_Ig_E-set PUS10 150962 genome.wustl.edu 37 2 61235925 61235925 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144709.2 -1 validated p.E118* 0.963 88 0% 114 36.8% 0 - - - - NULL PEX13 5194 genome.wustl.edu 37 2 61258957 61258957 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002618.3 +1 reviewed p.N166H 1.000 259 0% 263 30.4% 3 66.6% possibly_damaging(0.945) deleterious(0.05) deleterious(0.735) HMMPfam_Peroxin-13_N USP34 9736 genome.wustl.edu 37 2 61441705 61441705 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000411912 -1 known p.T484A 0.521 166 0% 153 20.3% 9 11.1% - - - NULL USP34 9736 genome.wustl.edu 37 2 61468760 61468760 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014709.3 -1 validated p.R2238C 1.000 89 0% 95 13.7% 3 33.3% probably_damaging(1) - - superfamily_Cysteine proteinases USP34 9736 genome.wustl.edu 37 2 61575116 61575116 + Missense_Mutation SNP C C T rs142392366 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014709.3 -1 validated p.R725Q 0.925 276 0% 297 29.6% 0 - benign(0.048) - - NULL USP34 9736 genome.wustl.edu 37 2 61575591 61575591 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014709.3 -1 validated p.E567K 1.000 201 0% 247 27.5% 0 - possibly_damaging(0.945) - - NULL XPO1 7514 genome.wustl.edu 37 2 61719472 61719472 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003400.3 -1 reviewed p.E571K 1.000 89 0% 109 23.9% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold FAM161A 84140 genome.wustl.edu 37 2 62053727 62053727 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032180.2 -1 validated p.E616* 1.000 35 0% 36 19.4% 0 - - - - NULL LOC100129162 100129162 genome.wustl.edu 37 2 62780138 62780138 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001725437.1 -1 model p.R178* 0.405 31 0% 18 22.2% 0 - - - - NULL EHBP1 23301 genome.wustl.edu 37 2 63085621 63085621 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015252.3 +1 reviewed p.A239T 1.000 150 0% 100 31% 0 - probably_damaging(0.996) tolerated(0.11) deleterious(0.733) NULL EHBP1 23301 genome.wustl.edu 37 2 63169980 63169980 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015252.3 +1 reviewed p.R473I 1.000 225 0% 140 22.9% 3 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain OTX1 5013 genome.wustl.edu 37 2 63283372 63283372 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014562.2 +1 reviewed p.S329F 0.991 61 0% 61 29.5% 3 0% unknown(0) deleterious(0.01) - NULL PELI1 57162 genome.wustl.edu 37 2 64335420 64335420 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020651.3 -1 validated p.H9N 1.000 362 0% 294 29.6% 0 - benign(0) tolerated(0.47) neutral(0.011) HMMPfam_Pellino AFTPH 54812 genome.wustl.edu 37 2 64779768 64779768 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203437.2 +1 validated p.S387I 0.006 262 0% 203 27.6% 0 - benign(0) tolerated(0.42) neutral(0.014) NULL AFTPH 54812 genome.wustl.edu 37 2 64780403 64780403 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203437.2 +1 validated p.R599* 1.000 163 0% 147 30.6% 3 0% - - - NULL AFTPH 54812 genome.wustl.edu 37 2 64794823 64794823 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203437.2 +1 validated p.T688M 0.954 463 0% 381 20.2% 10 10% probably_damaging(0.958) deleterious(0.03) deleterious(0.766) NULL CEP68 23177 genome.wustl.edu 37 2 65299676 65299676 + Nonsense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015147.2 +1 validated p.Y482* 0.886 116 0% 97 20.6% 11 18.1% - - - NULL SPRED2 200734 genome.wustl.edu 37 2 65559132 65559132 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181784.2 -1 validated p.D143Y 1.000 106 0% 88 18.2% 11 9% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CNRIP1 25927 genome.wustl.edu 37 2 68521063 68521063 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015463.2 -1 reviewed p.V142 1.000 71 0% 96 33.3% 0 - - - - NULL PROKR1 10887 genome.wustl.edu 37 2 68882679 68882679 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138964.2 +1 validated p.E385K 0.998 86 0% 70 18.6% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ARHGAP25 9938 genome.wustl.edu 37 2 69040444 69040444 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001007231.2 +1 validated p.S233A 1.000 310 0% 251 30.3% 3 0% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP AAK1 22848 genome.wustl.edu 37 2 69706131 69706131 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014911.3 -1 reviewed p.L878I 1.000 150 0% 133 22.6% 0 - probably_damaging(0.971) deleterious(0.03) deleterious(0.777) NULL GMCL1 64395 genome.wustl.edu 37 2 70106106 70106106 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178439.3 +1 provisional p.F506L 1.000 499 0% 428 22.7% 2 50% possibly_damaging(0.564) tolerated(0.11) neutral(0.464) NULL CD207 50489 genome.wustl.edu 37 2 71060880 71060880 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015717.2 -1 validated p.I154 0.033 108 0% 87 23% 0 - - - - NULL DYSF 8291 genome.wustl.edu 37 2 71791310 71791310 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130987.1 +1 reviewed p.K844N 1.000 89 0% 78 20.5% 1 0% possibly_damaging(0.512) deleterious(0.01) deleterious(0.578) HMMPfam_FerB SMYD5 10322 genome.wustl.edu 37 2 73452927 73452927 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006062.2 +1 validated p.E370D 1.000 295 0% 351 31.6% 9 0% probably_damaging(0.979) tolerated(0.09) deleterious(0.718) superfamily_SSF82199 ALMS1 7840 genome.wustl.edu 37 2 73717218 73717218 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015120.4 +1 reviewed p.F2710C 0.996 754 0% 568 23.1% 0 - possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL ALMS1 7840 genome.wustl.edu 37 2 73717535 73717535 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015120.4 +1 reviewed p.F2816V 1.000 377 0% 295 48.1% 0 - possibly_damaging(0.721) deleterious(0) deleterious(0.706) NULL ALMS1 7840 genome.wustl.edu 37 2 73800287 73800287 + Silent SNP C C T rs183916999 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015120.4 +1 reviewed p.V3760 0.002 392 0.3% 289 28.4% 12 8.3% - - - NULL C2orf78 388960 genome.wustl.edu 37 2 74042602 74042602 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080474.1 +1 predicted p.L418I 0.000 121 0% 77 19.5% 0 - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL MOB1A 55233 genome.wustl.edu 37 2 74392328 74392328 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000409969 -1 known p.S142 0.003 21 0% 24 45.8% 0 - - - - HMMPfam_Mob1_phocein MTHFD2 10797 genome.wustl.edu 37 2 74438944 74438944 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006636.3 +1 reviewed p.H280 0.018 121 0% 112 29.5% 55 34.5% - - - HMMPfam_THF_DHG_CYH_C,superfamily_NAD(P)-bd PCGF1 84759 genome.wustl.edu 37 2 74732873 74732873 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032673.2 -1 validated p.S185R 0.241 178 0% 196 28.1% 18 27.7% benign(0.031) tolerated(0.52) neutral(0.010) NULL C2orf65 130951 genome.wustl.edu 37 2 74802695 74802695 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138804.3 -1 predicted p.S315Y 1.000 267 0% 309 24.9% 1 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL C2orf65 130951 genome.wustl.edu 37 2 74808867 74808867 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138804.3 -1 predicted p.E235* 1.000 439 0% 393 29.5% 1 0% - - - NULL LRRTM4 80059 genome.wustl.edu 37 2 77745886 77745886 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134745.1 -1 validated p.R370I 0.782 75 0% 76 42.1% 0 - benign(0) tolerated(0.19) neutral(0.050) NULL LRRTM4 80059 genome.wustl.edu 37 2 77746271 77746271 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134745.1 -1 validated p.R242C 1.000 71 0% 77 29.9% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMSmart_SM00369,superfamily_L domain-like REG3G 130120 genome.wustl.edu 37 2 79253927 79253927 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008387.1 +1 validated p.F55L 0.114 100 0% 111 25.2% 0 - benign(0.339) tolerated(0.15) neutral(0.348) HMMSmart_SM00034,superfamily_C-type lectin-like CTNNA2 1496 genome.wustl.edu 37 2 80874951 80874951 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004389.3 +1 validated p.S891L 0.998 668 0% 519 29.9% 3 100% benign(0.045) deleterious(0.01) neutral(0.408) NULL SUCLG1 8802 genome.wustl.edu 37 2 84658736 84658736 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003849.3 -1 reviewed p.E241* 1.000 276 0% 191 30.9% 29 0% - - - HMMPfam_Ligase_CoA,superfamily_CoA_ligase GGCX 2677 genome.wustl.edu 37 2 85780435 85780435 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000821.4 -1 reviewed p.R359C 1.000 131 0% 158 16.5% 7 14.2% probably_damaging(0.988) deleterious(0.02) deleterious(0.821) HMMPfam_VKG_Carbox USP39 10713 genome.wustl.edu 37 2 85857881 85857881 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006590.2 +1 validated p.L254P 1.000 160 0% 176 28.4% 8 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases GNLY 10578 genome.wustl.edu 37 2 85924630 85924630 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006433.3 +1 reviewed p.R86I 0.000 38 0% 37 21.6% 59 0% possibly_damaging(0.85) tolerated(0.09) deleterious(0.623) HMMSmart_SM00741,superfamily_Saposin PTCD3 55037 genome.wustl.edu 37 2 86357814 86357814 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017952.5 +1 validated p.M397I 0.902 231 0% 192 20.8% 1 0% possibly_damaging(0.637) tolerated(0.12) deleterious(0.484) NULL IMMT 10989 genome.wustl.edu 37 2 86400836 86400836 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006839.2 -1 validated p.E120* 1.000 55 0% 45 35.6% 5 0% - - - HMMPfam_Mitofilin IMMT 10989 genome.wustl.edu 37 2 86406562 86406562 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006839.2 -1 validated p.K101N 1.000 126 0% 129 20.9% 1 0% probably_damaging(0.999) tolerated(0.11) deleterious(0.762) HMMPfam_Mitofilin KDM3A 55818 genome.wustl.edu 37 2 86678249 86678249 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018433.5 +1 reviewed p.K122N 1.000 77 0% 99 20.2% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KDM3A 55818 genome.wustl.edu 37 2 86682259 86682259 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018433.5 +1 reviewed p.E169* 1.000 78 0% 78 37.2% 0 - - - - NULL KDM3A 55818 genome.wustl.edu 37 2 86691288 86691288 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018433.5 +1 reviewed p.T319I 0.991 233 0% 216 24.5% 0 - possibly_damaging(0.822) deleterious(0.03) deleterious(0.675) NULL RMND5A 64795 genome.wustl.edu 37 2 86979111 86979111 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022780.3 +1 validated p.F126L 1.000 120 0% 156 34% 8 50% benign(0.001) tolerated(1) - HMMSmart_SM00667 CD8B 926 genome.wustl.edu 37 2 87085427 87085427 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_172213.3 -1 reviewed p.I52 0.989 46 0% 66 25.8% 28 0% - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 FABP1 2168 genome.wustl.edu 37 2 88425865 88425865 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001443.1 -1 reviewed p.L24M 0.790 431 0% 436 26.6% 0 - benign(0.011) deleterious(0.03) neutral(0.365) HMMPfam_Lipocalin,superfamily_Lipocalins EIF2AK3 9451 genome.wustl.edu 37 2 88874524 88874524 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004836.5 -1 reviewed p.R826Q 0.000 406 0% 394 33% 2 50% benign(0.015) tolerated(0.53) neutral(0.008) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EIF2AK3 9451 genome.wustl.edu 37 2 88892875 88892875 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004836.5 -1 reviewed p.E228K 0.998 232 0% 188 27.7% 0 - possibly_damaging(0.546) tolerated(0.11) neutral(0.457) superfamily_Quinoprotein alcohol dehydrogenase-like IGKV5-2 28907 genome.wustl.edu 37 2 89197092 89197092 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000390244 +1 known p.S46N 0.073 209 0% 333 31.5% 1 0% benign(0.002) deleterious(0.02) neutral(0.383) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 ENSG00000232747 0 genome.wustl.edu 37 2 89923780 89923780 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000442736 +1 known p.S36Y 0.009 460 0% 463 11.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_V-set,superfamily_SSF48726 IGKV2D-29 28882 genome.wustl.edu 37 2 89987058 89987058 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000491977 +1 known p.C113 0.080 188 0% 115 31.3% 3 0% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGKV2D-24 28885 genome.wustl.edu 37 2 90044425 90044425 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000462693 +1 known p.A116S 0.001 352 0% 329 23.4% 0 - benign(0) tolerated(0.42) neutral(0.014) superfamily_SSF48726 IGKV1D-42 28892 genome.wustl.edu 37 2 90229425 90229425 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000390278 +1 known p.S82L 0.517 248 0% 235 31.1% 0 - probably_damaging(0.989) deleterious(0.05) deleterious(0.785) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 TEKT4 150483 genome.wustl.edu 37 2 95539334 95539334 + Silent SNP C C A rs79674061 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144705.2 +1 provisional p.R190 1.000 22 0% 21 38.1% 0 - - - - HMMPfam_Tektin TEKT4 150483 genome.wustl.edu 37 2 95541418 95541418 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144705.2 +1 provisional p.A341D 0.993 31 0% 29 13.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Tektin ZNF514 84874 genome.wustl.edu 37 2 95815139 95815139 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032788.1 -1 provisional p.R364I 0.995 226 0% 187 24.6% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF2 7549 genome.wustl.edu 37 2 95847828 95847828 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000453539 +1 known p.R432C 0.974 110 0% 128 27.3% 2 50% probably_damaging(0.989) tolerated(0.15) deleterious(0.680) HMMPfam_zf-C2H2,superfamily_C2H2 and C2HC zinc fingers LOC344065 344065 genome.wustl.edu 37 2 95880420 95880420 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_292895.7 +1 model p.R229I 0.821 42 0% 38 23.7% 0 - - - - superfamily_C2H2 and C2HC zinc fingers TRIM43 129868 genome.wustl.edu 37 2 96265135 96265135 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138800.1 +1 provisional p.L385 0.003 408 0% 491 12.6% 0 - - - - HMMPfam_SPRY ENSG00000174501 0 genome.wustl.edu 37 2 96563081 96563081 + Missense_Mutation SNP C C A rs187095462 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000420871 -1 known p.D252Y 0.000 84 0% 48 27.1% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL ENSG00000174501 0 genome.wustl.edu 37 2 96578022 96578022 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000456556 -1 known p.E875* 0.002 40 0% 38 50% 0 - - - - NULL SNRNP200 23020 genome.wustl.edu 37 2 96944080 96944080 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014014.3 -1 reviewed p.S1835 1.000 101 0% 106 31.1% 230 50.8% - - - HMMPfam_Sec63,HMMSmart_SM00611 SNRNP200 23020 genome.wustl.edu 37 2 96956081 96956081 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014014.3 -1 reviewed p.N909H 0.998 214 0% 143 25.9% 19 52.6% benign(0.394) deleterious(0) deleterious(0.571) superfamily_P-loop containing nucleoside triphosphate hydrolases SNRNP200 23020 genome.wustl.edu 37 2 96958734 96958734 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014014.3 -1 reviewed p.I712 1.000 142 0% 92 22.8% 1 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ITPRIPL1 150771 genome.wustl.edu 37 2 96993197 96993197 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178495.5 +1 validated p.E284D 0.910 39 0% 53 13.2% 2 0% possibly_damaging(0.791) tolerated(0.62) neutral(0.300) NULL ANKRD36 375248 genome.wustl.edu 37 2 97864210 97864210 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000461153 +1 known p.E786D 0.004 47 0% 39 33.3% 0 - benign(0.018) tolerated(0.06) neutral(0.323) NULL ANKRD36 375248 genome.wustl.edu 37 2 97881191 97881191 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000461153 +1 known p.S1040 0.000 323 0% 187 14.4% 0 - - - - NULL ANKRD36B 57730 genome.wustl.edu 37 2 98167807 98167807 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025190.3 -1 provisional p.K208N 0.039 69 0% 73 28.8% 0 - - - - NULL UBTFL6 643615 genome.wustl.edu 37 2 98253329 98253329 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001714896.2 -1 model p.E308* 0.996 55 0% 58 22.4% 0 - - - - superfamily_HMG-box UBTFL6 643615 genome.wustl.edu 37 2 98253649 98253649 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001714896.2 -1 model p.K201T 0.997 66 0% 86 30.2% 0 - - - - NULL UBTFL6 643615 genome.wustl.edu 37 2 98254182 98254182 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001714896.2 -1 model p.L23F 0.931 148 0% 140 31.4% 0 - - - - NULL UBTFL6 643615 genome.wustl.edu 37 2 98254185 98254185 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001714896.2 -1 model p.I22 0.409 149 0% 140 30.7% 0 - - - - NULL ZAP70 7535 genome.wustl.edu 37 2 98354491 98354491 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001079.3 +1 reviewed p.E553K 0.998 20 0% 40 15% 59 0% benign(0.013) tolerated(0.06) neutral(0.323) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ZAP70 7535 genome.wustl.edu 37 2 98355881 98355881 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001079.3 +1 reviewed p.R594* 0.574 19 0% 19 36.8% 42 0% - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) TMEM131 23505 genome.wustl.edu 37 2 98409885 98409885 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015348.1 -1 validated p.R1173I 1.000 156 0% 71 15.5% 14 14.2% possibly_damaging(0.887) deleterious(0) deleterious(0.791) NULL CNGA3 1261 genome.wustl.edu 37 2 99013274 99013274 + Silent SNP C C T rs104893617 byCluster;byFrequency TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001298.2 +1 reviewed p.F547 1.000 96 0% 91 35.2% 0 - - - - HMMPfam_cNMP_binding,HMMSmart_cNMP,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding TSGA10 80705 genome.wustl.edu 37 2 99651704 99651704 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025244.2 -1 validated p.E535* 1.000 208 0% 149 29.5% 0 - - - - NULL TSGA10 80705 genome.wustl.edu 37 2 99681554 99681554 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025244.2 -1 validated p.R418* 1.000 709 0% 476 34.9% 0 - - - - NULL TSGA10 80705 genome.wustl.edu 37 2 99722141 99722141 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025244.2 -1 validated p.R77Q 1.000 810 0% 550 23.8% 1 100% benign(0.224) tolerated(0.39) neutral(0.038) NULL LIPT1 51601 genome.wustl.edu 37 2 99778521 99778521 + Nonsense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015929.3 +1 reviewed p.L34* 1.000 329 0% 342 37.4% 0 - - - - NULL TXNDC9 10190 genome.wustl.edu 37 2 99936193 99936193 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005783.3 -1 reviewed p.K211N 1.000 140 0% 125 28.8% 0 - benign(0.252) tolerated(0.17) neutral(0.085) NULL EIF5B 9669 genome.wustl.edu 37 2 99978179 99978179 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015904.3 +1 reviewed p.S272Y 0.009 360 0% 293 21.8% 7 57.1% possibly_damaging(0.819) deleterious(0.03) deleterious(0.674) NULL EIF5B 9669 genome.wustl.edu 37 2 99980118 99980118 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015904.3 +1 reviewed p.E310D 1.000 206 0% 157 26.8% 4 75% benign(0) tolerated(0.27) neutral(0.034) NULL TBC1D8 11138 genome.wustl.edu 37 2 101627984 101627984 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001102426.1 -1 validated p.R934Q 0.305 122 0% 156 30.8% 22 36.3% benign(0.01) tolerated(0.61) neutral(0.005) NULL CREG2 200407 genome.wustl.edu 37 2 101967507 101967507 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153836.3 -1 validated p.R251C 0.798 81 0% 58 48.3% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_FMN_binding IL1R2 7850 genome.wustl.edu 37 2 102636266 102636266 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004633.3 +1 reviewed p.R227H 0.003 80 0% 48 29.2% 1 0% probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMSmart_IG,superfamily_SSF48726 IL18RAP 8807 genome.wustl.edu 37 2 103040794 103040794 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003853.2 +1 reviewed p.L167I 0.104 268 0% 241 34.4% 1 0% benign(0.004) tolerated(0.13) neutral(0.253) HMMSmart_SM00409 SLC9A4 389015 genome.wustl.edu 37 2 103142801 103142801 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001011552.3 +1 validated p.F678L 0.002 118 0% 95 21.1% 5 0% benign(0.071) tolerated(0.61) neutral(0.009) NULL SLC9A2 6549 genome.wustl.edu 37 2 103318923 103318923 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003048.3 +1 validated p.E603* 1.000 319 0% 229 24.9% 0 - - - - NULL POU3F3 5455 genome.wustl.edu 37 2 105473057 105473057 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006236.1 +1 provisional p.F363 1.000 30 0% 34 35.3% 0 - - - - HMMPfam_Pou,HMMSmart_POU,PatternScan_POU_2,superfamily_Lambda_like_DNA C2orf40 84417 genome.wustl.edu 37 2 106690392 106690392 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032411.2 +1 validated p.E60* 0.710 157 0% 135 28.1% 0 - - - - NULL PLGLA 285189 genome.wustl.edu 37 2 107009280 107009280 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000482249 +1 known NULL 0.188 178 0% 176 31.8% 0 - - - - - RGPD4 285190 genome.wustl.edu 37 2 108475841 108475841 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182588.2 +1 validated p.L489I 1.000 392 0% 377 20.2% 0 - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL RGPD4 285190 genome.wustl.edu 37 2 108487762 108487762 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182588.2 +1 validated p.R1101Q 1.000 861 0.1% 756 23.1% 0 - probably_damaging(0.992) deleterious(0.04) deleterious(0.796) HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 RGPD4 285190 genome.wustl.edu 37 2 108488799 108488799 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182588.2 +1 validated p.R1447C 0.985 1386 0% 1180 16.4% 3 0% probably_damaging(0.977) deleterious(0.01) deleterious(0.825) HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 SLC5A7 60482 genome.wustl.edu 37 2 108609484 108609484 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021815.2 +1 provisional p.P117S 1.000 249 0% 177 22% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SSF SLC5A7 60482 genome.wustl.edu 37 2 108618400 108618400 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021815.2 +1 provisional p.I215 0.970 127 0% 157 19.1% 0 - - - - HMMPfam_SSF SLC5A7 60482 genome.wustl.edu 37 2 108626692 108626692 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021815.2 +1 provisional p.S373L 1.000 120 0% 105 42.9% 0 - benign(0.345) deleterious(0.02) deleterious(0.492) HMMPfam_SSF GCC2 9648 genome.wustl.edu 37 2 109102173 109102173 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181453.3 +1 reviewed p.L1232R 1.000 211 0% 168 23.2% 1 0% probably_damaging(1) - - NULL GCC2 9648 genome.wustl.edu 37 2 109111752 109111752 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181453.3 +1 reviewed p.V1485F 1.000 131 0% 121 25.6% 4 0% benign(0.317) - - NULL RANBP2 5903 genome.wustl.edu 37 2 109384004 109384004 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006267.4 +1 reviewed p.A2337T 1.000 864 0.1% 670 27% 2 50% probably_damaging(1) - - HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 RANBP2 5903 genome.wustl.edu 37 2 109384259 109384259 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006267.4 +1 reviewed p.R2422C 0.977 1262 0.1% 1171 19.2% 2 0% probably_damaging(0.997) - - HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 RANBP2 5903 genome.wustl.edu 37 2 109392288 109392288 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006267.4 +1 reviewed p.S2798Y 0.035 263 0.4% 260 31.5% 5 40% probably_damaging(0.964) - - NULL MALL 7851 genome.wustl.edu 37 2 110849251 110849251 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005434.4 -1 validated p.L68I 0.937 202 0% 220 14.5% 8 75% unknown(0) - - HMMPfam_MARVEL ANAPC1 64682 genome.wustl.edu 37 2 112582744 112582744 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022662.2 -1 validated p.A902V 0.406 420 0.5% 336 31% 2 0% benign(0) tolerated(0.14) neutral(0.249) NULL MERTK 10461 genome.wustl.edu 37 2 112686714 112686714 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006343.2 +1 reviewed p.E27K 0.053 109 0% 82 30.5% 0 - possibly_damaging(0.875) deleterious(0) deleterious(0.784) NULL TMEM87B 84910 genome.wustl.edu 37 2 112854851 112854851 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032824.2 +1 validated p.I419L 0.976 333 0% 334 29.9% 7 42.8% benign(0) tolerated(0.55) neutral(0.007) HMMPfam_Lung_7-TM_R TMEM87B 84910 genome.wustl.edu 37 2 112863605 112863605 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032824.2 +1 validated p.K493Q 1.000 542 0% 575 31% 0 - probably_damaging(0.988) tolerated(0.16) deleterious(0.497) NULL FBLN7 129804 genome.wustl.edu 37 2 112945086 112945086 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000409903 +1 known p.G357D 0.004 146 0% 122 24.6% 3 0% unknown(0) - - NULL RGPD8 727851 genome.wustl.edu 37 2 113147720 113147720 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000302558 -1 known p.K934N 0.824 787 0% 541 22.9% 0 - probably_damaging(0.962) tolerated(0.17) neutral(0.464) NULL POLR1B 84172 genome.wustl.edu 37 2 113326342 113326342 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019014.4 +1 validated p.I646S 0.996 212 0% 196 27.6% 6 16.6% benign(0.248) deleterious(0) deleterious(0.470) HMMPfam_RNA_pol_Rpb2_5,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase SLC20A1 6574 genome.wustl.edu 37 2 113418134 113418134 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005415.3 +1 provisional p.P593L 1.000 99 0% 89 24.7% 35 28.5% possibly_damaging(0.868) deleterious(0.02) deleterious(0.720) HMMPfam_PHO4 IL37 27178 genome.wustl.edu 37 2 113675300 113675300 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014439.3 +1 reviewed p.F118L 0.008 272 0.4% 254 33.5% 0 - benign(0) tolerated(1) - HMMSmart_SM00125,superfamily_Cytokine DPP10 57628 genome.wustl.edu 37 2 116593774 116593774 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020868.3 +1 validated p.D664 1.000 91 0% 60 35% 0 - - - - HMMPfam_Peptidase_S9,superfamily_alpha/beta-Hydrolases DDX18 8886 genome.wustl.edu 37 2 118575261 118575261 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006773.3 +1 reviewed p.K109N 0.987 351 0% 283 22.3% 1 100% possibly_damaging(0.753) tolerated(0.15) deleterious(0.518) superfamily_SSF52540 INSIG2 51141 genome.wustl.edu 37 2 118865878 118865878 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016133.2 +1 reviewed p.E220* 1.000 126 0% 56 25% 12 33.3% - - - NULL STEAP3 55240 genome.wustl.edu 37 2 120003518 120003518 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182915.2 +1 validated p.I159S 1.000 49 0% 65 16.9% 24 45.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_F420_oxidored,superfamily_NAD(P)-binding Rossmann-fold domains PTPN4 5775 genome.wustl.edu 37 2 120692378 120692378 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002830.2 +1 reviewed p.R400Q 1.000 138 0% 78 29.5% 4 25% benign(0.033) tolerated(0.08) neutral(0.301) NULL PTPN4 5775 genome.wustl.edu 37 2 120702778 120702778 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002830.2 +1 reviewed p.E493* 1.000 181 0% 137 28.5% 0 - - - - superfamily_PDZ TFCP2L1 29842 genome.wustl.edu 37 2 121999993 121999993 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014553.2 -1 validated p.R237I 1.000 120 0% 124 29.8% 0 - possibly_damaging(0.537) deleterious(0) deleterious(0.626) HMMPfam_CP2 CNTNAP5 129684 genome.wustl.edu 37 2 124999967 124999967 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130773.2 +1 reviewed p.I126 1.000 70 0% 50 22% 0 - - - - HMMPfam_F5_F8_type_C,HMMSmart_FA58C,superfamily_Gal_bind_like CNTNAP5 129684 genome.wustl.edu 37 2 125530564 125530564 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130773.2 +1 reviewed p.R907* 0.679 265 0% 191 27.2% 0 - - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 CYP27C1 339761 genome.wustl.edu 37 2 127944866 127944866 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001665.3 -1 reviewed p.R367Q 0.141 94 0% 69 17.4% 0 - benign(0.026) tolerated(1) neutral(0.001) HMMPfam_p450,superfamily_Cytochrome P450 ERCC3 2071 genome.wustl.edu 37 2 128044438 128044438 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000122.1 -1 reviewed p.D395N 0.999 117 0% 126 30.2% 34 38.2% benign(0.317) deleterious(0) deleterious(0.543) HMMPfam_ResIII,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases MAP3K2 10746 genome.wustl.edu 37 2 128065305 128065305 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006609.3 -1 reviewed p.I570 1.000 27 0% 25 20% 1 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MYO7B 4648 genome.wustl.edu 37 2 128324367 128324367 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080527.1 +1 provisional p.M145I 1.000 35 0% 38 26.3% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases POTEF 728378 genome.wustl.edu 37 2 130869577 130869577 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099771.2 -1 validated p.R303I 0.002 100 0% 96 32.3% 0 - probably_damaging(0.976) tolerated(0.06) deleterious(0.740) HMMPfam_Ank,superfamily_ANK PTPN18 26469 genome.wustl.edu 37 2 131116856 131116856 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014369.3 +1 reviewed p.D85N 0.979 73 0% 83 21.7% 13 30.7% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 TMEM163 81615 genome.wustl.edu 37 2 135223757 135223757 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030923.4 -1 validated p.L199I 1.000 39 0% 27 25.9% 0 - benign(0.009) tolerated(0.75) neutral(0.002) NULL TMEM163 81615 genome.wustl.edu 37 2 135308200 135308200 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030923.4 -1 validated p.A133 0.841 94 0% 55 29.1% 0 - - - - NULL YSK4 80122 genome.wustl.edu 37 2 135744261 135744261 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025052.3 -1 validated p.K727N 0.271 228 0% 183 30.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL YSK4 80122 genome.wustl.edu 37 2 135745101 135745101 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025052.3 -1 validated p.V447 0.000 211 0% 194 24.7% 0 - - - - NULL YSK4 80122 genome.wustl.edu 37 2 135745186 135745186 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025052.3 -1 validated p.R419I 0.000 197 0% 216 27.3% 0 - benign(0.288) deleterious(0) deleterious(0.533) NULL RAB3GAP1 22930 genome.wustl.edu 37 2 135893155 135893155 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012233.2 +1 reviewed p.R526G 1.000 92 0% 107 30.8% 4 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL R3HDM1 23518 genome.wustl.edu 37 2 136399296 136399296 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015361.2 +1 provisional p.F470L 1.000 148 0% 160 11.9% 1 0% probably_damaging(0.977) tolerated(0.23) neutral(0.460) NULL LCT 3938 genome.wustl.edu 37 2 136566815 136566815 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002299.2 -1 reviewed p.E1034D 0.861 106 0% 80 10% 0 - probably_damaging(0.953) tolerated(0.6) neutral(0.401) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat LCT 3938 genome.wustl.edu 37 2 136567238 136567238 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002299.2 -1 reviewed p.F893 1.000 145 0% 124 25.8% 0 - - - - NULL MCM6 4175 genome.wustl.edu 37 2 136614338 136614338 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005915.4 -1 reviewed p.R529Q 1.000 255 0% 234 25.6% 21 52.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MCM,HMMSmart_SM00350,superfamily_P-loop containing nucleoside triphosphate hydrolases THSD7B 80731 genome.wustl.edu 37 2 137928430 137928430 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080427.1 +1 provisional p.E518* 0.999 128 0% 104 32.7% 0 - - - - NULL THSD7B 80731 genome.wustl.edu 37 2 138169355 138169355 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080427.1 +1 provisional p.E927* 1.000 305 0% 205 22.4% 0 - - - - HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat THSD7B 80731 genome.wustl.edu 37 2 138169380 138169380 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080427.1 +1 provisional p.R935Q 0.609 230 0% 171 53.8% 0 - benign(0.176) tolerated(0.65) neutral(0.019) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat THSD7B 80731 genome.wustl.edu 37 2 138414483 138414483 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080427.1 +1 provisional p.S1379Y 1.000 320 0% 331 26.6% 0 - possibly_damaging(0.86) deleterious(0.03) deleterious(0.697) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat LOC440917 440917 genome.wustl.edu 37 2 139045625 139045625 + RNA SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_041289.2 -1 model NULL 0.999 223 0% 263 21.3% 0 - - - - - NXPH2 11249 genome.wustl.edu 37 2 139428578 139428578 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007226.2 -1 validated p.F237V 1.000 188 0% 142 28.2% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Neurexophilin LRP1B 53353 genome.wustl.edu 37 2 141055423 141055423 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000437977 -1 known p.L539R 0.014 690 0% 655 20.8% 0 - - - - HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin LRP1B 53353 genome.wustl.edu 37 2 141116507 141116507 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018557.2 -1 validated p.L3714I 1.000 265 0% 295 25.4% 0 - benign(0.052) tolerated(0.49) neutral(0.014) HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich LRP1B 53353 genome.wustl.edu 37 2 141474298 141474298 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018557.2 -1 validated p.T1949I 1.000 407 0% 465 26.7% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141607889 141607889 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018557.2 -1 validated p.K1574T 1.000 124 0% 102 32.4% 0 - probably_damaging(0.958) tolerated(0.11) deleterious(0.673) superfamily_SSF57196,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141609264 141609264 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018557.2 -1 validated p.C1556* 0.996 297 0% 252 25.4% 0 - - - - HMMSmart_EGF,superfamily_SSF57196 LRP1B 53353 genome.wustl.edu 37 2 141816552 141816552 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018557.2 -1 validated p.I436 0.922 195 0% 176 25% 0 - - - - HMMSmart_LY,superfamily_SSF63825 ARHGAP15 55843 genome.wustl.edu 37 2 143913106 143913106 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018460.3 +1 validated p.S16Y 0.998 131 0% 160 22.5% 1 0% possibly_damaging(0.806) deleterious(0.02) deleterious(0.686) NULL ARHGAP15 55843 genome.wustl.edu 37 2 143986208 143986208 + Nonsense_Mutation SNP G G T rs138543005 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018460.3 +1 validated p.E119* 1.000 169 0% 153 25.5% 1 0% - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 ARHGAP15 55843 genome.wustl.edu 37 2 144193251 144193251 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018460.3 +1 validated p.N186D 1.000 109 0% 55 32.7% 4 0% possibly_damaging(0.679) tolerated(0.4) neutral(0.258) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 GTDC1 79712 genome.wustl.edu 37 2 144714898 144714898 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001006636.3 -1 validated p.S332P 1.000 80 0% 73 16.4% 2 50% probably_damaging(0.992) tolerated(0.1) deleterious(0.734) HMMPfam_Glycos_transf_1,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase ZEB2 9839 genome.wustl.edu 37 2 145147134 145147134 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014795.3 -1 reviewed p.E1177K 1.000 271 0% 281 26.3% 11 0% benign(0.001) deleterious(0.02) neutral(0.383) NULL ZEB2 9839 genome.wustl.edu 37 2 145156336 145156336 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014795.3 -1 reviewed p.F806L 1.000 267 0% 200 22% 0 - benign(0.081) tolerated(0.83) neutral(0.007) NULL ZEB2 9839 genome.wustl.edu 37 2 145161673 145161673 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014795.3 -1 reviewed p.A206V 1.000 91 0% 78 30.8% 0 - possibly_damaging(0.95) deleterious(0.03) deleterious(0.758) NULL ORC4 5000 genome.wustl.edu 37 2 148705723 148705723 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002552.2 -1 reviewed p.S220* 1.000 231 0% 162 19.8% 1 0% - - - superfamily_SSF52540 MBD5 55777 genome.wustl.edu 37 2 149220164 149220164 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018328.4 +1 reviewed p.L43V 1.000 238 0% 140 22.1% 0 - unknown(0) tolerated(0.71) - HMMPfam_MBD,HMMSmart_SM00391 MBD5 55777 genome.wustl.edu 37 2 149227785 149227785 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018328.4 +1 reviewed p.A758V 1.000 139 0% 90 11.1% 4 0% unknown(0) tolerated(0.17) - NULL MBD5 55777 genome.wustl.edu 37 2 149227806 149227806 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018328.4 +1 reviewed p.N765S 1.000 156 0% 97 22.7% 3 100% unknown(0) deleterious(0.03) - NULL MBD5 55777 genome.wustl.edu 37 2 149241045 149241045 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000404807 +1 known p.N962S 1.000 84 0% 112 12.5% 0 - unknown(0) deleterious(0.01) - NULL MBD5 55777 genome.wustl.edu 37 2 149243474 149243474 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000416015 +1 known p.A976V 1.000 134 0% 189 22.2% 0 - - - - NULL KIF5C 3800 genome.wustl.edu 37 2 149868143 149868143 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000435030 +1 known p.R943* 1.000 60 0% 81 30.9% 0 - - - - NULL TNFAIP6 7130 genome.wustl.edu 37 2 152214205 152214205 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007115.2 +1 reviewed p.L9F 0.981 156 0% 136 22.1% 0 - benign(0.03) deleterious(0.03) neutral(0.366) NULL RIF1 55183 genome.wustl.edu 37 2 152319988 152319988 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018151.4 +1 reviewed p.V1318 0.002 159 0% 130 39.2% 0 - - - - superfamily_ARM repeat RIF1 55183 genome.wustl.edu 37 2 152320692 152320692 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018151.4 +1 reviewed p.E1553A 1.000 190 0% 146 19.9% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_ARM repeat RIF1 55183 genome.wustl.edu 37 2 152321756 152321756 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018151.4 +1 reviewed p.E1908* 0.000 275 0% 224 28.1% 1 0% - - - superfamily_ARM repeat NEB 4703 genome.wustl.edu 37 2 152364531 152364531 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004543.4 -1 reviewed p.K6112N 1.000 31 0% 15 40% 0 - probably_damaging(1) - - HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152388397 152388397 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004543.4 -1 reviewed p.K5443T 1.000 24 0% 19 26.3% 0 - possibly_damaging(0.661) tolerated(0.19) neutral(0.283) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152421656 152421656 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004543.4 -1 reviewed p.Y4424H 1.000 19 0% 34 17.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152468835 152468835 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004543.4 -1 reviewed p.V3647 0.001 158 0% 133 33.8% 0 - - - - HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152507377 152507377 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004543.4 -1 reviewed p.R2313Q 1.000 436 0% 304 29.6% 0 - probably_damaging(0.985) deleterious(0.04) deleterious(0.781) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152521954 152521954 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004543.4 -1 reviewed p.L1711I 0.999 51 0% 45 24.4% 0 - possibly_damaging(0.515) tolerated(0.52) neutral(0.182) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152527651 152527651 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004543.4 -1 reviewed p.G1464 0.056 89 0% 85 30.6% 0 - - - - HMMSmart_SM00227 CACNB4 785 genome.wustl.edu 37 2 152695633 152695633 + Nonstop_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000726.3 -1 reviewed p.*521C 1.000 70 0% 58 10.3% 0 - - - - NULL FMNL2 114793 genome.wustl.edu 37 2 153482066 153482066 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052905.3 +1 reviewed p.R651Q 1.000 59 0% 31 22.6% 1 0% benign(0.128) tolerated(0.19) neutral(0.060) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd ARL6IP6 151188 genome.wustl.edu 37 2 153577101 153577101 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152522.4 +1 validated e2+1 1.000 64 0% 36 30.6% 0 - - - - - GALNT13 114805 genome.wustl.edu 37 2 155295128 155295128 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052917.2 +1 validated p.E474* 1.000 213 0% 114 20.2% 0 - - - - HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins KCNJ3 3760 genome.wustl.edu 37 2 155555916 155555916 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002239.2 +1 reviewed p.T210M 1.000 49 0% 46 32.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IRK,superfamily_Ig_E-set KCNJ3 3760 genome.wustl.edu 37 2 155711473 155711473 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002239.2 +1 reviewed p.S385Y 1.000 532 0% 267 30.3% 0 - possibly_damaging(0.644) tolerated(0.14) deleterious(0.475) HMMPfam_IRK KCNJ3 3760 genome.wustl.edu 37 2 155711640 155711640 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002239.2 +1 reviewed p.S441R 1.000 391 0% 182 13.2% 0 - benign(0.013) deleterious(0) neutral(0.445) NULL GALNT5 11227 genome.wustl.edu 37 2 158115029 158115029 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014568.1 +1 provisional p.D145 0.000 162 0% 136 14.7% 0 - - - - NULL ERMN 57471 genome.wustl.edu 37 2 158178085 158178085 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001009959.1 -1 validated p.E198* 0.997 505 0% 403 24.6% 0 - - - - NULL CYTIP 9595 genome.wustl.edu 37 2 158283908 158283908 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004288.4 -1 reviewed p.M167I 0.998 63 0% 62 30.6% 10 0% benign(0.001) tolerated(0.26) neutral(0.034) superfamily_PDZ ACVR1C 130399 genome.wustl.edu 37 2 158395119 158395119 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145259.2 -1 validated p.R441Q 1.000 322 0% 226 22.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CCDC148 130940 genome.wustl.edu 37 2 159107387 159107387 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138803.3 -1 validated p.R383I 1.000 137 0% 131 23.7% 2 0% probably_damaging(0.983) tolerated(0.1) deleterious(0.716) NULL CCDC148 130940 genome.wustl.edu 37 2 159195325 159195325 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138803.3 -1 validated p.S226Y 1.000 155 0% 170 24.1% 1 100% possibly_damaging(0.83) tolerated(0.06) deleterious(0.638) NULL BAZ2B 29994 genome.wustl.edu 37 2 160182245 160182245 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013450.2 -1 validated p.S2043Y 0.912 271 0% 172 30.2% 0 - probably_damaging(0.97) deleterious(0.02) deleterious(0.795) superfamily_Bromodomain BAZ2B 29994 genome.wustl.edu 37 2 160193466 160193466 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013450.2 -1 validated p.S1928* 1.000 410 0% 304 23.7% 1 0% - - - superfamily_FYVE/PHD zinc finger BAZ2B 29994 genome.wustl.edu 37 2 160204062 160204062 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013450.2 -1 validated p.L1797V 0.494 355 0% 252 25.8% 5 20% benign(0.008) tolerated(0.12) neutral(0.261) NULL CD302 9936 genome.wustl.edu 37 2 160636685 160636685 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014880.4 -1 validated p.A100 0.004 117 0% 78 26.9% 6 33.3% - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like SLC4A10 57282 genome.wustl.edu 37 2 162738870 162738870 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022058.3 +1 reviewed p.F340L 1.000 61 0% 31 25.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein SLC4A10 57282 genome.wustl.edu 37 2 162761414 162761414 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022058.3 +1 reviewed p.F552L 1.000 74 0% 64 21.9% 0 - probably_damaging(0.976) tolerated(0.06) deleterious(0.740) HMMPfam_HCO3_cotransp SLC4A10 57282 genome.wustl.edu 37 2 162815049 162815049 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022058.3 +1 reviewed p.S919Y 1.000 42 0% 45 26.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HCO3_cotransp,PatternScan_HTH_ARAC_FAMILY_1 DPP4 1803 genome.wustl.edu 37 2 162851883 162851883 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001935.3 -1 reviewed e24-1 1.000 216 0% 130 30% 0 - - - - - FAP 2191 genome.wustl.edu 37 2 163059653 163059653 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004460.2 -1 reviewed p.F350L 1.000 51 0% 41 22% 1 0% possibly_damaging(0.734) deleterious(0.01) deleterious(0.674) HMMPfam_DPPIV_N,superfamily_SSF82171 FAP 2191 genome.wustl.edu 37 2 163075634 163075634 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004460.2 -1 reviewed p.Q182H 1.000 220 0% 153 17.6% 0 - possibly_damaging(0.818) deleterious(0.03) deleterious(0.673) HMMPfam_DPPIV_N,superfamily_SSF82171 COBLL1 22837 genome.wustl.edu 37 2 165551957 165551957 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014900.3 -1 validated p.D687Y 0.004 280 0.7% 291 30.9% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SCN3A 6328 genome.wustl.edu 37 2 165946901 165946901 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006922.3 -1 reviewed p.K1921T 1.000 147 0% 127 24.4% 0 - possibly_damaging(0.494) deleterious(0.04) deleterious(0.513) HMMPfam_IQ,HMMSmart_IQ SCN3A 6328 genome.wustl.edu 37 2 165969412 165969412 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006922.3 -1 reviewed p.D1276Y 1.000 954 0% 739 31.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 SCN3A 6328 genome.wustl.edu 37 2 166020359 166020359 + Missense_Mutation SNP C C T rs77258062 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001081677.1 -1 reviewed p.R216Q 1.000 95 0% 76 23.7% 0 - possibly_damaging(0.922) deleterious(0) deleterious(0.816) HMMPfam_Ion_trans,superfamily_SSF81324 SCN2A 6326 genome.wustl.edu 37 2 166152438 166152438 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040142.1 +1 reviewed p.K35N 1.000 162 0% 120 20% 0 - benign(0.424) deleterious(0.01) deleterious(0.543) NULL SCN2A 6326 genome.wustl.edu 37 2 166165199 166165199 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040142.1 +1 reviewed p.T167N 1.000 261 0% 202 31.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166165685 166165685 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040143.1 +1 reviewed p.E206* 1.000 195 0% 130 23.8% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SCN2A 6326 genome.wustl.edu 37 2 166198865 166198865 + Nonsense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040142.1 +1 reviewed p.Y816* 0.999 254 0% 259 24.7% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166231294 166231294 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040142.1 +1 reviewed p.L1358F 1.000 181 0% 145 13.8% 0 - benign(0.041) tolerated(0.1) neutral(0.289) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CSRNP3 80034 genome.wustl.edu 37 2 166535229 166535229 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024969.3 +1 validated p.P242S 1.000 208 0% 182 26.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CSRNP3 80034 genome.wustl.edu 37 2 166535709 166535709 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024969.3 +1 validated p.E402K 0.997 328 0% 310 34.2% 0 - benign(0.054) deleterious(0.01) neutral(0.409) NULL TTC21B 79809 genome.wustl.edu 37 2 166744910 166744910 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024753.3 -1 validated p.P1113L 1.000 185 0% 156 21.8% 2 0% possibly_damaging(0.897) deleterious(0.01) deleterious(0.760) superfamily_TPR-like TTC21B 79809 genome.wustl.edu 37 2 166785810 166785810 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024753.3 -1 validated p.K407N 1.000 172 0% 124 21% 0 - benign(0.253) deleterious(0.03) neutral(0.391) superfamily_TPR-like SCN1A 6323 genome.wustl.edu 37 2 166848779 166848779 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006920.4 -1 reviewed p.A1658V 1.000 429 0% 511 29.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 SCN1A 6323 genome.wustl.edu 37 2 166854638 166854638 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006920.4 -1 reviewed p.Y1451* 1.000 192 0% 213 30% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SCN1A 6323 genome.wustl.edu 37 2 166859105 166859105 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006920.4 -1 reviewed p.I1376 0.163 274 0.4% 273 18.7% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SCN1A 6323 genome.wustl.edu 37 2 166900510 166900510 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006920.4 -1 reviewed p.R571K 1.000 130 0% 112 28.6% 0 - benign(0) tolerated(0.27) neutral(0.034) NULL SCN9A 6335 genome.wustl.edu 37 2 167055248 167055248 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002977.3 -1 reviewed p.E1956D 0.995 65 0% 53 22.6% 0 - possibly_damaging(0.942) tolerated(0.34) neutral(0.410) NULL SCN9A 6335 genome.wustl.edu 37 2 167142954 167142954 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002977.3 -1 reviewed p.E498D 0.999 554 0% 426 32.6% 0 - benign(0.001) tolerated(0.44) neutral(0.013) NULL SCN9A 6335 genome.wustl.edu 37 2 167145022 167145022 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002977.3 -1 reviewed p.I413M 0.005 265 0% 267 27.7% 0 - benign(0.002) tolerated(0.22) neutral(0.042) NULL SCN9A 6335 genome.wustl.edu 37 2 167159671 167159671 + Missense_Mutation SNP C C T rs146758972 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002977.3 -1 reviewed p.R277Q 0.000 102 0% 75 17.3% 0 - benign(0.427) tolerated(0.19) neutral(0.189) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN9A 6335 genome.wustl.edu 37 2 167160829 167160829 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002977.3 -1 reviewed p.E203* 1.000 112 0% 86 37.2% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN7A 6332 genome.wustl.edu 37 2 167262585 167262585 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002976.2 -1 validated p.F1518L 0.998 203 0% 214 23.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SCN7A 6332 genome.wustl.edu 37 2 167298010 167298010 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002976.2 -1 validated p.L685I 0.999 285 0% 320 30.9% 0 - benign(0.136) deleterious(0) neutral(0.456) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN7A 6332 genome.wustl.edu 37 2 167322448 167322448 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002976.2 -1 validated p.I238M 0.015 166 0% 137 31.4% 0 - benign(0.048) tolerated(0.29) neutral(0.032) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN7A 6332 genome.wustl.edu 37 2 167330813 167330813 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002976.2 -1 validated p.F92L 1.000 8 0.000 9 0.444 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Voltage-gated potassium channels XIRP2 129446 genome.wustl.edu 37 2 168100571 168100571 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152381.4 +1 validated p.S890N 0.131 286 0% 257 24.9% 0 - possibly_damaging(0.772) tolerated(0.36) neutral(0.307) NULL XIRP2 129446 genome.wustl.edu 37 2 168102174 168102174 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152381.4 +1 validated p.F1424L 0.044 274 0% 243 25.5% 0 - benign(0.001) tolerated(1) - HMMPfam_Xin XIRP2 129446 genome.wustl.edu 37 2 168103940 168103940 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152381.4 +1 validated p.R2013I 0.270 280 0% 299 32.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL XIRP2 129446 genome.wustl.edu 37 2 168115634 168115634 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001079810.2 +1 validated p.D860Y 0.676 145 0% 226 26.1% 0 - possibly_damaging(0.865) deleterious(0) deleterious(0.780) NULL XIRP2 129446 genome.wustl.edu 37 2 168115847 168115847 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001079810.2 +1 validated p.N931H 1.000 152 0% 230 23.5% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL B3GALT1 8708 genome.wustl.edu 37 2 168726190 168726190 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020981.2 +1 reviewed p.R214Q 1.000 153 0% 111 27.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Galactosyl_T STK39 27347 genome.wustl.edu 37 2 168931506 168931506 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013233.2 -1 reviewed p.E410K 1.000 229 0.4% 253 25.3% 12 16.6% benign(0.05) tolerated(0.2) neutral(0.052) NULL STK39 27347 genome.wustl.edu 37 2 168986101 168986101 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013233.2 -1 reviewed p.I347L 1.000 383 0% 468 20.7% 4 25% benign(0) tolerated(0.36) neutral(0.020) superfamily_Protein kinase-like (PK-like) STK39 27347 genome.wustl.edu 37 2 169020354 169020354 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013233.2 -1 reviewed p.R156Q 1.000 203 0% 176 27.8% 4 0% possibly_damaging(0.928) tolerated(0.34) neutral(0.399) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CERS6 253782 genome.wustl.edu 37 2 169626103 169626103 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203463.1 +1 validated p.A362 0.206 103 0% 126 31% 9 33.3% - - - NULL NOSTRIN 115677 genome.wustl.edu 37 2 169690745 169690745 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039724.3 +1 validated p.K138N 1.000 122 0% 134 38.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPC25 57405 genome.wustl.edu 37 2 169746011 169746011 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020675.3 -1 reviewed p.A7T 0.550 60 0% 88 31.8% 8 75% benign(0) tolerated(0.61) neutral(0.004) NULL LRP2 4036 genome.wustl.edu 37 2 170028535 170028535 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004525.2 -1 reviewed p.E3751D 1.000 154 0% 101 26.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170031810 170031810 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004525.2 -1 reviewed p.R3554Q 0.000 57 0% 49 42.9% 0 - benign(0.141) tolerated(0.14) neutral(0.262) HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170063577 170063577 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004525.2 -1 reviewed p.S2218Y 1.000 427 0% 323 28.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170097669 170097669 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004525.2 -1 reviewed p.R1292W 1.000 199 0% 208 29.8% 0 - possibly_damaging(0.947) deleterious(0) deleterious(0.835) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170099570 170099570 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004525.2 -1 reviewed p.T1188I 0.996 237 0% 169 20.1% 0 - probably_damaging(0.993) tolerated(0.09) deleterious(0.746) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170103944 170103944 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004525.2 -1 reviewed p.R951Q 1.000 242 0% 220 33.6% 0 - probably_damaging(0.987) tolerated(0.14) deleterious(0.686) superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170136938 170136938 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004525.2 -1 reviewed p.Q421H 0.998 162 0.6% 95 31.6% 0 - benign(0.013) tolerated(0.11) neutral(0.272) HMMSmart_LY,superfamily_Grow_fac_recept,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170136996 170136996 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004525.2 -1 reviewed p.R402Q 1.000 127 0% 80 22.5% 0 - probably_damaging(0.988) tolerated(0.42) neutral(0.452) superfamily_Grow_fac_recept,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170147508 170147508 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004525.2 -1 reviewed e8-1 1.000 176 0% 174 33.3% 0 - - - - - LRP2 4036 genome.wustl.edu 37 2 170148794 170148794 + Missense_Mutation SNP G G C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004525.2 -1 reviewed p.D246E 1.000 231 0% 203 22.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich FASTKD1 79675 genome.wustl.edu 37 2 170402775 170402775 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024622.3 -1 validated p.L552V 0.863 122 0% 105 22.9% 2 100% benign(0.318) tolerated(0.29) neutral(0.129) NULL FASTKD1 79675 genome.wustl.edu 37 2 170411647 170411647 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024622.3 -1 validated p.E401* 1.000 92 0% 86 31.4% 4 25% - - - NULL PPIG 9360 genome.wustl.edu 37 2 170487393 170487393 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004792.2 +1 validated p.S219 0.991 309 0% 263 29.3% 9 55.5% - - - NULL PPIG 9360 genome.wustl.edu 37 2 170492930 170492930 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004792.2 +1 validated p.L388V 1.000 156 0% 160 18.1% 7 28.5% benign(0.041) deleterious(0.02) neutral(0.386) NULL PPIG 9360 genome.wustl.edu 37 2 170493734 170493734 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004792.2 +1 validated p.E656* 1.000 132 0% 146 25.3% 5 20% - - - NULL PHOSPHO2 493911 genome.wustl.edu 37 2 170558103 170558103 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008489.2 +1 provisional p.L208I 0.972 166 0% 160 23.7% 0 - benign(0.165) tolerated(0.43) neutral(0.028) HMMPfam_Put_Phosphatase METTL5 29081 genome.wustl.edu 37 2 170676131 170676131 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014168.2 -1 provisional p.K143N 1.000 96 0% 99 38.4% 26 46.1% benign(0.103) tolerated(0.07) neutral(0.327) superfamily_SSF53335 MYO3B 140469 genome.wustl.edu 37 2 171256757 171256757 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138995.3 +1 validated p.F617 1.000 593 0% 484 24.8% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases DCAF17 80067 genome.wustl.edu 37 2 172336550 172336550 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000339506 +1 known p.L174R 1.000 195 0% 133 27.1% 0 - - - - NULL DCAF17 80067 genome.wustl.edu 37 2 172337624 172337624 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000339506 +1 known p.272T 0.878 252 0% 176 34.7% 0 - - - - NULL CYBRD1 79901 genome.wustl.edu 37 2 172410002 172410002 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024843.3 +1 validated p.I183M 0.880 115 0% 114 27.2% 0 - unknown(0) - - HMMPfam_Cytochrom_B561 ITGA6 3655 genome.wustl.edu 37 2 173354279 173354279 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001079818.1 +1 reviewed p.E858* 1.000 243 0% 177 31.6% 1 0% - - - HMMPfam_Integrin_alpha2,superfamily_Integrin domains ZAK 51776 genome.wustl.edu 37 2 174052346 174052346 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016653.2 +1 reviewed p.R137I 1.000 349 0% 275 28.4% 4 25% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like) SP3 6670 genome.wustl.edu 37 2 174777836 174777836 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003111.4 -1 reviewed p.R664Q 1.000 172 0% 78 21.8% 10 10% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GPR155 151556 genome.wustl.edu 37 2 175304647 175304647 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001033045.2 -1 validated p.R764Q 0.834 107 0% 86 34.9% 0 - benign(0.01) tolerated(0.45) neutral(0.013) "HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" GPR155 151556 genome.wustl.edu 37 2 175330588 175330588 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001033045.2 -1 validated p.E437* 1.000 79 0% 62 9.7% 0 - - - - NULL LOC100133109 100133109 genome.wustl.edu 37 2 175584746 175584746 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001716442.2 -1 model p.L78I 1.000 59 0% 47 23.4% 328 0% - - - NULL ATP5G3 518 genome.wustl.edu 37 2 176043908 176043908 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001002258.4 -1 reviewed p.A64V 1.000 134 0% 131 9.9% 397 16.6% benign(0.009) tolerated(0.7) neutral(0.003) NULL KIAA1715 80856 genome.wustl.edu 37 2 176802237 176802237 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030650.1 -1 validated p.R297* 1.000 124 0% 81 40.7% 2 0% - - - HMMPfam_DUF2296 HOXD12 3238 genome.wustl.edu 37 2 176965305 176965305 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000404162 +1 known p.E220K 0.281 5 0.000 12 0.417 0 - unknown(0) deleterious(0) - NULL HOXD9 3235 genome.wustl.edu 37 2 176988684 176988684 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014213.3 +1 reviewed p.I280 1.000 90 0% 140 22.1% 5 0% - - - superfamily_Homeodomain-like OSBPL6 114880 genome.wustl.edu 37 2 179247784 179247784 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145739.1 +1 reviewed p.R556Q 1.000 140 0% 119 37.8% 0 - possibly_damaging(0.867) tolerated(0.59) neutral(0.341) HMMPfam_Oxysterol_BP OSBPL6 114880 genome.wustl.edu 37 2 179259041 179259041 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145739.1 +1 reviewed p.F863L 1.000 340 0% 312 22.1% 1 0% benign(0) tolerated(1) - HMMPfam_Oxysterol_BP TTN 7273 genome.wustl.edu 37 2 179395047 179395047 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.S32862Y 0.655 302 0% 258 18.6% 0 - benign(0.281) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179399936 179399936 + Silent SNP G G T rs55802460 byCluster;byFrequency;by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133378.4 -1 reviewed p.S31234Y 0.988 268 0% 190 26.8% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179401078 179401078 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.R30896C 1.000 106 0% 84 36.9% 0 - probably_damaging(1) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179407087 179407087 + Missense_Mutation SNP C C T rs55915651 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.E29896K 1.000 67 0% 70 15.7% 0 - possibly_damaging(0.863) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179410325 179410325 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.E29268* 1.000 526 0% 429 28.2% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179417101 179417101 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.E27606* 1.000 124 0% 104 25% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179428334 179428334 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.R24939* 1.000 210 0% 212 30.2% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179448598 179448598 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.K19201E 1.000 43 0% 52 30.8% 0 - possibly_damaging(0.662) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179458949 179458949 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.D16821N 0.999 68 0% 78 20.5% 0 - benign(0.29) - - HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179459338 179459338 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.E16725* 1.000 113 0% 89 31.5% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179463539 179463539 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133378.4 -1 reviewed p.S16398* 1.000 356 0% 398 25.4% 1 100% - - - NULL TTN 7273 genome.wustl.edu 37 2 179466063 179466063 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.R15986Q 1.000 169 0% 175 28% 0 - possibly_damaging(0.763) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179472651 179472651 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.E15053D 1.000 243 0% 309 28.2% 0 - benign(0.049) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179475744 179475744 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.A14470T 0.992 261 0% 276 29% 0 - benign(0.29) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179482589 179482589 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.S13262I 1.000 171 0% 232 28.4% 0 - benign(0.099) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179485595 179485595 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.F12680L 1.000 224 0% 265 28.7% 0 - benign(0.099) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179486292 179486292 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.L12519M 1.000 118 0% 111 24.3% 1 0% possibly_damaging(0.741) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig TTN 7273 genome.wustl.edu 37 2 179490033 179490033 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.D12271Y 1.000 353 0% 348 38.8% 0 - possibly_damaging(0.741) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179499150 179499150 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.G11552W 1.000 108 0% 99 27.3% 0 - possibly_damaging(0.503) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179526523 179526523 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000392423 -1 known p.S636 0.001 522 0% 591 13.9% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179536814 179536814 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.K10403T 0.939 274 0% 203 26.1% 1 100% unknown(0) deleterious(0.03) - NULL TTN 7273 genome.wustl.edu 37 2 179569676 179569676 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.E8630 1.000 341 0% 322 25.5% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179575835 179575835 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.T8132 0.997 236 0% 172 29.7% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179575973 179575973 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.I8086 0.996 246 0% 224 26.8% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179577956 179577956 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.G7725* 1.000 54 0% 57 29.8% 0 - - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179583921 179583921 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.D6822N 0.941 172 0% 213 27.7% 0 - unknown(0) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179594438 179594438 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.R4937Q 0.999 301 0% 349 28.9% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179594443 179594443 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.E4935D 1.000 300 0% 337 27.6% 0 - unknown(0) - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179594996 179594996 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356127 -1 known p.K4800T 1.000 73 0% 50 30% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179604290 179604290 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000342175 -1 known p.A4386D 0.000 289 0% 242 24% 0 - possibly_damaging(0.539) - - NULL TTN 7273 genome.wustl.edu 37 2 179604979 179604979 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000342175 -1 known p.S4156 0.171 234 0% 207 22.2% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179606598 179606598 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000342175 -1 known p.E3617K 0.284 59 0% 39 28.2% 0 - possibly_damaging(0.539) - - NULL TTN 7273 genome.wustl.edu 37 2 179611774 179611774 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133379.3 -1 reviewed p.S5118Y 0.007 237 0% 244 27.9% 0 - benign(0.195) deleterious(0.01) neutral(0.424) NULL TTN 7273 genome.wustl.edu 37 2 179612894 179612894 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133379.3 -1 reviewed p.E4745* 0.087 196 0% 166 24.1% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179614364 179614364 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133379.3 -1 reviewed p.E4255* 0.000 233 0% 205 18.5% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179615320 179615320 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133379.3 -1 reviewed p.R3936Q 0.199 133 0% 104 31.7% 0 - benign(0.002) tolerated(0.44) neutral(0.013) superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179616041 179616041 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133379.3 -1 reviewed p.K3696E 0.752 287 0% 234 22.6% 0 - benign(0) tolerated(1) - NULL TTN 7273 genome.wustl.edu 37 2 179623811 179623811 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133379.3 -1 reviewed p.L3401 1.000 169 0% 131 16% 0 - - - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179641543 179641543 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133379.3 -1 reviewed p.R1683Q 1.000 148 0% 121 22.3% 0 - benign(0.287) - - NULL TTN 7273 genome.wustl.edu 37 2 179641740 179641740 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133379.3 -1 reviewed p.I1617 0.847 143 0% 147 27.9% 0 - - - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179647289 179647289 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133379.3 -1 reviewed p.E1047D 1.000 66 0% 49 34.7% 0 - benign(0.049) - - NULL TTN 7273 genome.wustl.edu 37 2 179650417 179650417 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133379.3 -1 reviewed p.R808H 1.000 103 0% 59 20.3% 0 - possibly_damaging(0.737) - - NULL CCDC141 285025 genome.wustl.edu 37 2 179720080 179720080 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173648.2 -1 provisional p.I443 0.999 181 0% 147 25.9% 0 - - - - NULL CCDC141 285025 genome.wustl.edu 37 2 179720222 179720222 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173648.2 -1 provisional p.S396Y 0.015 179 0% 136 17.6% 0 - possibly_damaging(0.644) deleterious(0.01) deleterious(0.631) NULL CCDC141 285025 genome.wustl.edu 37 2 179736219 179736219 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173648.2 -1 provisional p.G139R 1.000 427 0% 406 31.3% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL CWC22 57703 genome.wustl.edu 37 2 180817208 180817208 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020943.2 -1 validated p.L603V 1.000 37 0% 41 22% 3 0% probably_damaging(0.99) tolerated(0.1) deleterious(0.728) NULL UBE2E3 10477 genome.wustl.edu 37 2 181922436 181922436 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006357.2 +1 reviewed p.D88Y 1.000 484 0% 754 19.9% 23 30.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like CERKL 375298 genome.wustl.edu 37 2 182413468 182413468 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001030311.2 -1 reviewed p.R364* 1.000 284 0% 189 25.4% 0 - - - - NULL CERKL 375298 genome.wustl.edu 37 2 182438595 182438595 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001030311.2 -1 reviewed p.P166 0.319 209 0.5% 164 31.1% 0 - - - - NULL SSFA2 6744 genome.wustl.edu 37 2 182780637 182780637 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130445.1 +1 validated p.R757Q 0.089 304 0% 404 30.2% 2 0% benign(0.006) tolerated(0.27) neutral(0.034) NULL PDE1A 5136 genome.wustl.edu 37 2 183066263 183066263 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005019.3 -1 validated p.S359Y 1.000 225 0% 186 29.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 ZNF804A 91752 genome.wustl.edu 37 2 185800564 185800564 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_194250.1 +1 provisional p.N147K 0.125 312 0% 191 19.9% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL FSIP2 401024 genome.wustl.edu 37 2 186669902 186669902 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000424728 +1 known p.S5290Y 0.463 337 0% 361 21.1% 0 - possibly_damaging(0.741) deleterious(0) deleterious(0.716) NULL FSIP2 401024 genome.wustl.edu 37 2 186671735 186671735 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000424728 +1 known p.S5901Y 0.000 219 0% 255 32.5% 0 - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL FSIP2 401024 genome.wustl.edu 37 2 186680179 186680179 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000424728 +1 known p.D6803Y 0.979 105 0% 91 29.7% 0 - possibly_damaging(0.698) deleterious(0) deleterious(0.696) NULL FAM171B 165215 genome.wustl.edu 37 2 187608296 187608296 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_177454.3 +1 validated p.L187V 0.998 104 0% 71 29.6% 0 - benign(0.059) tolerated(0.2) neutral(0.053) HMMPfam_UPF0560 ZSWIM2 151112 genome.wustl.edu 37 2 187702238 187702238 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182521.2 -1 validated p.L180V 0.990 131 0% 151 20.5% 0 - possibly_damaging(0.923) tolerated(0.05) deleterious(0.718) HMMSmart_RING,superfamily_SSF57850 TFPI 7035 genome.wustl.edu 37 2 188331724 188331724 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006287.4 -1 reviewed p.R285I 0.999 145 0% 86 19.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL COL3A1 1281 genome.wustl.edu 37 2 189855065 189855065 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000090.3 +1 reviewed p.F259L 1.000 77 0% 59 25.4% 51 0% unknown(0) tolerated(0.82) - HMMPfam_Collagen COL3A1 1281 genome.wustl.edu 37 2 189856934 189856934 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000090.3 +1 reviewed p.R326* 1.000 202 0% 149 24.2% 43 0% - - - HMMPfam_Collagen COL3A1 1281 genome.wustl.edu 37 2 189871095 189871095 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000090.3 +1 reviewed p.P1040T 1.000 48 0% 51 23.5% 233 0% probably_damaging(1) tolerated(0.53) deleterious(0.507) HMMPfam_Collagen COL3A1 1281 genome.wustl.edu 37 2 189873885 189873885 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000090.3 +1 reviewed p.S1254Y 0.995 140 0% 100 23% 80 0% unknown(0) deleterious(0) - HMMPfam_COLFI,HMMSmart_SM00038 COL5A2 1290 genome.wustl.edu 37 2 189917699 189917699 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000393.3 -1 reviewed p.G867* 1.000 121 0% 103 32% 15 0% - - - HMMPfam_Collagen ASNSD1 54529 genome.wustl.edu 37 2 190531980 190531980 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019048.2 +1 validated p.Q374H 0.000 175 0% 149 34.9% 5 60% benign(0.006) tolerated(0.08) neutral(0.300) HMMPfam_Asn_synthase,superfamily_Adenine nucleotide alpha hydrolases-like ANKAR 150709 genome.wustl.edu 37 2 190557094 190557094 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144708.3 +1 validated p.E314* 1.000 107 0% 84 41.7% 0 - - - - superfamily_Ankyrin repeat ANKAR 150709 genome.wustl.edu 37 2 190611118 190611118 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144708.3 +1 validated p.R1286Q 0.940 367 0% 366 23.8% 0 - benign(0.011) tolerated(0.22) neutral(0.043) NULL PMS1 5378 genome.wustl.edu 37 2 190660510 190660510 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000534.4 +1 reviewed p.D50Y 1.000 185 0% 194 26.3% 2 100% possibly_damaging(0.706) deleterious(0) deleterious(0.699) HMMPfam_HATPase_c,HMMSmart_HATPase_c,superfamily_ATP_bd_ATPase PMS1 5378 genome.wustl.edu 37 2 190738293 190738293 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000534.4 +1 reviewed p.D849Y 0.998 66 0% 64 12.5% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MSTN 2660 genome.wustl.edu 37 2 190922043 190922043 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005259.2 -1 reviewed p.E357* 1.000 132 0.8% 119 24.4% 0 - - - - HMMPfam_TGF_beta,HMMSmart_SM00204,superfamily_Cystine-knot cytokines MFSD6 54842 genome.wustl.edu 37 2 191301769 191301769 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017694.3 +1 validated p.A338 0.943 112 0% 165 27.9% 3 0% - - - superfamily_MFS_gen_substrate_transporter STAT4 6775 genome.wustl.edu 37 2 191927539 191927539 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003151.2 -1 reviewed p.R297I 0.972 132 0% 91 15.4% 1 0% possibly_damaging(0.453) deleterious(0.01) deleterious(0.554) HMMPfam_STAT_alpha,superfamily_STAT TMEFF2 23671 genome.wustl.edu 37 2 192818483 192818483 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016192.2 -1 provisional p.F317C 1.000 153 0% 117 29.9% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL DNAH7 56171 genome.wustl.edu 37 2 196673459 196673459 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018897.2 -1 validated p.R3344C 1.000 347 0% 243 29.6% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Dynein_heavy DNAH7 56171 genome.wustl.edu 37 2 196709789 196709789 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018897.2 -1 validated p.R2961Q 0.995 72 0% 84 19% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL DNAH7 56171 genome.wustl.edu 37 2 196726537 196726537 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018897.2 -1 validated p.S2547Y 0.764 196 0% 178 20.2% 0 - benign(0.055) deleterious(0.02) neutral(0.387) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH7 56171 genome.wustl.edu 37 2 196729107 196729107 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018897.2 -1 validated p.L2424 1.000 200 0% 145 24.8% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH7 56171 genome.wustl.edu 37 2 196729739 196729739 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018897.2 -1 validated p.R2214* 0.045 281 0% 210 19% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH7 56171 genome.wustl.edu 37 2 196741367 196741367 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018897.2 -1 validated p.F2006L 1.000 255 0% 200 34% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH7 56171 genome.wustl.edu 37 2 196746696 196746696 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018897.2 -1 validated p.P1928 0.287 165 0% 116 29.3% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH7 56171 genome.wustl.edu 37 2 196749416 196749416 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018897.2 -1 validated p.R1886* 0.995 222 0% 141 23.4% 0 - - - - NULL DNAH7 56171 genome.wustl.edu 37 2 196756464 196756464 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018897.2 -1 validated p.Q1654P 1.000 132 0% 119 32.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases HECW2 57520 genome.wustl.edu 37 2 197184344 197184344 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020760.1 -1 provisional p.E424K 0.998 77 0% 66 10.6% 0 - benign(0.077) deleterious(0) neutral(0.450) NULL GTF3C3 9330 genome.wustl.edu 37 2 197656147 197656147 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012086.2 -1 provisional p.R150K 1.000 114 0% 198 27.8% 4 75% probably_damaging(0.99) tolerated(0.25) deleterious(0.478) HMMSmart_SM00028 ANKRD44 91526 genome.wustl.edu 37 2 197870568 197870568 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153697.1 -1 provisional p.D708Y 1.000 243 0.4% 162 32.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,superfamily_ANK ANKRD44 91526 genome.wustl.edu 37 2 197872646 197872646 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153697.1 -1 provisional p.T647A 1.000 184 0% 142 30.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANKRD44 91526 genome.wustl.edu 37 2 197964557 197964557 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153697.1 -1 provisional p.S336 0.734 55 0% 65 21.5% 1 0% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK SF3B1 23451 genome.wustl.edu 37 2 198265089 198265089 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012433.2 -1 reviewed p.P930S 1.000 242 0% 277 26.4% 54 9.2% probably_damaging(0.973) tolerated(0.11) deleterious(0.686) HMMPfam_HEAT,superfamily_ARM repeat SF3B1 23451 genome.wustl.edu 37 2 198273203 198273203 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012433.2 -1 reviewed p.S336* 1.000 87 0% 105 37.1% 7 0% - - - HMMPfam_SF3b1 SF3B1 23451 genome.wustl.edu 37 2 198288678 198288678 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012433.2 -1 reviewed p.E17* 1.000 187 0% 228 21.1% 9 0% - - - NULL RFTN2 130132 genome.wustl.edu 37 2 198508962 198508962 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144629.2 -1 validated p.R120C 0.989 68 0% 91 30.8% 0 - probably_damaging(0.994) tolerated(0.06) deleterious(0.774) NULL PLCL1 5334 genome.wustl.edu 37 2 198948514 198948514 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000428675 +1 known p.K91 1.000 174 0% 106 32.1% 1 0% - - - NULL PLCL1 5334 genome.wustl.edu 37 2 198968610 198968610 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006226.3 +1 validated p.K921Q 1.000 346 0% 358 28.5% 0 - probably_damaging(0.999) tolerated(0.11) deleterious(0.762) NULL PLCL1 5334 genome.wustl.edu 37 2 199011546 199011546 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006226.3 +1 validated p.E952* 0.999 132 0% 153 20.3% 0 - - - - NULL SATB2 23314 genome.wustl.edu 37 2 200233425 200233425 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015265.3 -1 reviewed p.M201I 1.000 72 0% 64 31.2% 0 - possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) NULL SGOL2 151246 genome.wustl.edu 37 2 201399874 201399874 + Missense_Mutation SNP C C T rs190369262 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152524.5 +1 validated p.R97C 1.000 860 0% 649 27.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Shugoshin_N SGOL2 151246 genome.wustl.edu 37 2 201435809 201435809 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152524.5 +1 validated p.S247Y 0.105 218 0% 207 35.3% 0 - possibly_damaging(0.727) deleterious(0) deleterious(0.709) NULL SGOL2 151246 genome.wustl.edu 37 2 201436040 201436040 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152524.5 +1 validated p.R324I 0.004 157 0.6% 121 28.9% 0 - benign(0.001) tolerated(0.07) neutral(0.319) NULL SGOL2 151246 genome.wustl.edu 37 2 201436857 201436857 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152524.5 +1 validated p.V596 0.862 292 0% 202 14.4% 0 - - - - NULL SGOL2 151246 genome.wustl.edu 37 2 201438535 201438535 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152524.5 +1 validated p.R1156C 0.000 278 0.4% 255 17.6% 3 0% possibly_damaging(0.722) tolerated(0.1) deleterious(0.548) NULL CLK1 1195 genome.wustl.edu 37 2 201721531 201721531 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004071.3 -1 reviewed p.R311C 1.000 363 0% 273 18.7% 24 41.6% probably_damaging(0.999) tolerated(0.13) deleterious(0.743) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NIF3L1 60491 genome.wustl.edu 37 2 201756968 201756968 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001136039.2 +1 validated p.K101T 1.000 156 0% 234 18.8% 24 25% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_NIF3,superfamily_NIF3 (NGG1p interacting factor 3)-like ORC2 4999 genome.wustl.edu 37 2 201796161 201796161 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006190.3 -1 reviewed p.R273H 0.749 157 0% 144 28.5% 0 - benign(0.007) tolerated(0.55) neutral(0.007) HMMPfam_ORC2 CFLAR 8837 genome.wustl.edu 37 2 202014536 202014536 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127183.1 +1 validated p.I257 0.901 69 0% 75 26.7% 4 25% - - - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like CASP8 841 genome.wustl.edu 37 2 202131412 202131412 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080125.1 +1 reviewed p.R127Q 0.037 105 0% 107 35.5% 1 100% probably_damaging(0.994) tolerated(0.33) deleterious(0.476) HMMPfam_DED,HMMSmart_SM00031,superfamily_DEATH domain CASP8 841 genome.wustl.edu 37 2 202136317 202136317 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080125.1 +1 reviewed p.I187 0.002 124 0% 156 30.1% 1 0% - - - HMMPfam_DED,HMMSmart_SM00031,superfamily_DEATH domain CASP8 841 genome.wustl.edu 37 2 202149794 202149794 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080125.1 +1 reviewed p.K412T 1.000 346 0% 306 31% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C14,HMMSmart_SM00115,PatternScan_CASPASE_CYS,superfamily_Caspase-like ALS2CR12 130540 genome.wustl.edu 37 2 202173902 202173902 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000415745 -1 known p.S24L 0.005 848 0% 578 21.6% 0 - - - - NULL TRAK2 66008 genome.wustl.edu 37 2 202263032 202263032 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015049.2 -1 validated p.R176* 1.000 151 0% 122 21.3% 1 0% - - - HMMPfam_HAP1_N ALS2 57679 genome.wustl.edu 37 2 202598038 202598038 + Silent SNP G G A rs181782027 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000439495 -1 known p.R168C 1.000 96 0% 103 30.1% 0 - - - - superfamily_DBL homology domain (DH-domain) ALS2 57679 genome.wustl.edu 37 2 202609092 202609092 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020919.3 -1 reviewed p.N687H 1.000 193 0% 152 32.9% 1 100% probably_damaging(1) tolerated(0.06) deleterious(0.823) superfamily_DBL homology domain (DH-domain) ALS2CR8 79800 genome.wustl.edu 37 2 203826163 203826163 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000444724 +1 known p.K282N 0.001 49 0% 65 24.6% 0 - unknown(0) deleterious(0.04) - NULL NBEAL1 65065 genome.wustl.edu 37 2 204000926 204000926 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001114132.1 +1 validated p.T1418I 0.217 105 0% 119 34.5% 0 - benign(0.004) tolerated(0.18) neutral(0.056) NULL NBEAL1 65065 genome.wustl.edu 37 2 204009584 204009584 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001114132.1 +1 validated p.E1675K 1.000 151 0% 128 30.5% 0 - possibly_damaging(0.875) tolerated(0.5) neutral(0.350) NULL NRP2 8828 genome.wustl.edu 37 2 206617599 206617599 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_201266.1 +1 reviewed p.F648 0.990 53 0% 42 40.5% 2 100% - - - HMMPfam_MAM,HMMSmart_SM00137 INO80D 54891 genome.wustl.edu 37 2 206870180 206870180 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017759.4 -1 validated p.E666K 1.000 123 0% 138 32.6% 0 - possibly_damaging(0.821) tolerated(0.14) deleterious(0.560) NULL NDUFS1 4719 genome.wustl.edu 37 2 206997721 206997721 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005006.5 -1 reviewed p.R501W 0.989 42 0% 47 21.3% 10 40% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMPfam_Molybdopterin,superfamily_SSF53706 ZDBF2 57683 genome.wustl.edu 37 2 207161969 207161969 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020923.1 +1 validated e2-1 1.000 99 0% 106 31.1% 0 - - - - - ZDBF2 57683 genome.wustl.edu 37 2 207169517 207169517 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020923.1 +1 validated p.E89* 0.134 94 0% 88 22.7% 0 - - - - NULL ZDBF2 57683 genome.wustl.edu 37 2 207170111 207170111 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020923.1 +1 validated p.K287Q 0.000 89 0% 89 32.6% 0 - probably_damaging(0.978) tolerated(0.09) deleterious(0.717) NULL ZDBF2 57683 genome.wustl.edu 37 2 207174280 207174280 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020923.1 +1 validated p.T1676 0.007 188 0% 177 23.2% 0 - - - - NULL ZDBF2 57683 genome.wustl.edu 37 2 207175683 207175683 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020923.1 +1 validated p.R2144I 0.001 213 0% 163 25.2% 0 - benign(0.099) - - NULL KLF7 8609 genome.wustl.edu 37 2 207988586 207988586 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003709.2 -1 provisional p.K215N 1.000 122 0% 129 26.4% 2 0% possibly_damaging(0.899) deleterious(0.01) deleterious(0.762) superfamily_C2H2 and C2HC zinc fingers KLF7 8609 genome.wustl.edu 37 2 207989075 207989075 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003709.2 -1 provisional p.E52 1.000 86 0% 70 10% 1 0% - - - NULL CREB1 1385 genome.wustl.edu 37 2 208461648 208461648 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_134442.3 +1 reviewed p.R298* 0.996 139 0% 126 11.9% 4 25% - - - HMMSmart_SM00338,PatternScan_BZIP_BASIC,HMMPfam_bZIP_1 C2orf80 389073 genome.wustl.edu 37 2 209030493 209030493 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000451342 -1 known p.F130L 0.000 62 0% 56 32.1% 0 - benign(0.001) - - NULL IDH1 3417 genome.wustl.edu 37 2 209106815 209106815 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005896.2 -1 reviewed p.I251 0.377 168 0% 177 30.5% 88 42% - - - HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like PIKFYVE 200576 genome.wustl.edu 37 2 209185002 209185002 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015040.3 +1 reviewed p.K703N 1.000 324 0% 214 27.1% 0 - probably_damaging(0.969) tolerated(0.15) deleterious(0.652) HMMPfam_Cpn60_TCP1,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like PIKFYVE 200576 genome.wustl.edu 37 2 209189648 209189648 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015040.3 +1 reviewed p.R782Q 0.998 194 0% 130 27.7% 4 0% possibly_damaging(0.928) tolerated(0.08) deleterious(0.675) HMMPfam_Cpn60_TCP1,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like PIKFYVE 200576 genome.wustl.edu 37 2 209194593 209194593 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015040.3 +1 reviewed p.K1249N 1.000 100 1% 82 18.3% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL PTH2R 5746 genome.wustl.edu 37 2 209315486 209315486 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005048.2 +1 reviewed p.A289V 0.034 191 0% 173 26% 0 - benign(0) tolerated(1) - HMMPfam_7tm_2,superfamily_SSF81321 MAP2 4133 genome.wustl.edu 37 2 210558192 210558192 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002374.3 +1 reviewed p.P433L 0.233 200 0% 148 35.1% 0 - benign(0.014) deleterious(0.03) neutral(0.365) HMMPfam_MAP2_projctn MAP2 4133 genome.wustl.edu 37 2 210560565 210560565 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002374.3 +1 reviewed p.T1224M 0.020 160 0% 150 22% 0 - benign(0.068) deleterious(0) neutral(0.449) HMMPfam_MAP2_projctn MAP2 4133 genome.wustl.edu 37 2 210595056 210595056 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002374.3 +1 reviewed p.E1807K 1.000 104 0% 104 21.2% 8 37.5% benign(0.119) deleterious(0.01) neutral(0.415) NULL KANSL1L 151050 genome.wustl.edu 37 2 210894549 210894549 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152519.2 -1 validated p.S750* 0.999 261 0% 216 32.4% 0 - - - - NULL KANSL1L 151050 genome.wustl.edu 37 2 210905228 210905228 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152519.2 -1 validated p.E649* 1.000 132 0% 112 30.4% 4 50% - - - NULL KANSL1L 151050 genome.wustl.edu 37 2 211018799 211018799 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152519.2 -1 validated p.N170H 0.998 243 0% 166 36.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ERBB4 2066 genome.wustl.edu 37 2 212587245 212587245 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000260943 -1 known p.S252* 1.000 133 0% 82 19.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Furin-like,HMMSmart_SM00261,superfamily_Growth factor receptor domain BARD1 580 genome.wustl.edu 37 2 215646173 215646173 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000465.2 -1 reviewed p.S142* 0.997 304 0% 231 25.5% 0 - - - - NULL ABCA12 26154 genome.wustl.edu 37 2 215818586 215818586 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173076.2 -1 reviewed p.K2213N 0.989 132 0% 73 26% 1 100% benign(0) tolerated(0.19) neutral(0.050) NULL ABCA12 26154 genome.wustl.edu 37 2 215845213 215845213 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173076.2 -1 reviewed p.K1578N 1.000 163 0% 148 23.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ABCA12 26154 genome.wustl.edu 37 2 215884364 215884364 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173076.2 -1 reviewed p.E482K 0.027 206 0% 136 25.7% 0 - benign(0.021) deleterious(0.03) neutral(0.365) NULL ABCA12 26154 genome.wustl.edu 37 2 215914350 215914350 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173076.2 -1 reviewed p.Q231H 1.000 154 0% 131 17.6% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL FN1 2335 genome.wustl.edu 37 2 216263993 216263993 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_212482.1 -1 reviewed p.R1112I 1.000 106 0% 115 20% 27 3.7% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FN1 2335 genome.wustl.edu 37 2 216271016 216271016 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_212482.1 -1 reviewed p.V977 1.000 146 0% 119 32.8% 18 11.1% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FN1 2335 genome.wustl.edu 37 2 216273098 216273098 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_212482.1 -1 reviewed p.R784Q 1.000 268 0% 203 29.1% 16 6.2% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FN1 2335 genome.wustl.edu 37 2 216289985 216289985 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_212482.1 -1 reviewed p.R290C 0.610 155 0% 140 31.4% 19 21% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL TNS1 7145 genome.wustl.edu 37 2 218700918 218700918 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022648.4 -1 reviewed p.E883D 1.000 73 0% 74 29.7% 0 - benign(0.038) tolerated(0.3) neutral(0.030) NULL NHEJ1 79840 genome.wustl.edu 37 2 220023025 220023025 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024782.2 -1 reviewed p.E20D 0.990 187 0% 260 28.5% 10 0% benign(0.058) tolerated(1) neutral(0.004) HMMPfam_XLF FAM134A 79137 genome.wustl.edu 37 2 220046101 220046101 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024293.4 +1 validated p.G265 1.000 45 0% 75 22.7% 42 45.2% - - - NULL ABCB6 10058 genome.wustl.edu 37 2 220075763 220075763 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005689.1 -1 reviewed p.T679I 1.000 37 0% 47 27.7% 93 52.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB6 10058 genome.wustl.edu 37 2 220078881 220078881 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005689.1 -1 reviewed p.E472K 1.000 50 0% 59 30.5% 19 52.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain STK16 8576 genome.wustl.edu 37 2 220111318 220111318 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000409260 +1 known p.S54Y 0.000 25 0% 22 18.2% 1 0% unknown(0) tolerated(0.07) - superfamily_Kinase_like TUBA4A 7277 genome.wustl.edu 37 2 220116295 220116295 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006000.1 -1 reviewed p.R123C 1.000 239 0% 199 29.6% 220 46.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like SPEG 10290 genome.wustl.edu 37 2 220333683 220333683 + Missense_Mutation SNP C C A rs55670811 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005876.4 +1 validated p.A1135E 0.000 18 0% 17 29.4% 0 - benign(0) tolerated(0.8) neutral(0.001) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin SPEG 10290 genome.wustl.edu 37 2 220356958 220356958 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005876.4 +1 validated p.R3196Q 1.000 24 0% 20 30% 0 - possibly_damaging(0.951) tolerated(0.1) deleterious(0.680) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase OBSL1 23363 genome.wustl.edu 37 2 220420946 220420946 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015311.2 -1 reviewed p.E1469K 0.973 23 0% 32 34.4% 33 48.4% benign(0.317) tolerated(0.56) neutral(0.106) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 SLC4A3 6508 genome.wustl.edu 37 2 220496705 220496705 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_201574.2 +1 validated p.D303G 1.000 21 0% 31 25.8% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL SLC4A3 6508 genome.wustl.edu 37 2 220496723 220496723 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_201574.2 +1 validated p.R309Q 1.000 24 0% 29 37.9% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL EPHA4 2043 genome.wustl.edu 37 2 222298902 222298902 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004438.3 -1 reviewed p.S819L 1.000 280 0% 199 25.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like EPHA4 2043 genome.wustl.edu 37 2 222436881 222436881 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004438.3 -1 reviewed p.E30* 1.000 34 0% 47 23.4% 0 - - - - HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,superfamily_Gal_bind_like FARSB 10056 genome.wustl.edu 37 2 223488401 223488401 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005687.3 -1 reviewed p.A407T 0.998 351 0% 318 25.8% 79 54.4% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Class II aaRS and biotin synthetases FARSB 10056 genome.wustl.edu 37 2 223507670 223507670 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005687.3 -1 reviewed p.A57T 1.000 133 0% 162 34% 4 25% benign(0.308) tolerated(0.45) neutral(0.108) superfamily_Putative DNA-binding domain CUL3 8452 genome.wustl.edu 37 2 225368527 225368527 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003590.3 -1 validated p.E407* 1.000 47 0% 44 18.2% 8 0% - - - HMMPfam_Cullin,superfamily_Cullin homology domain DOCK10 55619 genome.wustl.edu 37 2 225669780 225669780 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000409802 -1 known p.L97I 0.998 71 0% 74 29.7% 0 - - - - NULL DOCK10 55619 genome.wustl.edu 37 2 225672642 225672642 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014689.2 -1 validated p.R1191* 1.000 68 0% 55 27.3% 0 - - - - NULL DOCK10 55619 genome.wustl.edu 37 2 225695295 225695295 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014689.2 -1 validated p.S1000L 1.000 56 0% 58 36.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DOCK10 55619 genome.wustl.edu 37 2 225721595 225721595 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014689.2 -1 validated p.L597R 1.000 92 0% 50 30% 1 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL NYAP2 57624 genome.wustl.edu 37 2 226447014 226447014 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020864.1 +1 validated p.S294L 1.000 108 0% 129 29.5% 0 - probably_damaging(0.98) tolerated(0.29) neutral(0.453) NULL COL4A3 1285 genome.wustl.edu 37 2 228141115 228141115 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000091.3 +1 reviewed p.L648I 0.000 47 0% 41 17.1% 0 - unknown(0) tolerated(0.27) - HMMPfam_Collagen MFF 56947 genome.wustl.edu 37 2 228205011 228205011 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020194.4 +1 provisional p.R145* 1.000 86 0% 91 15.4% 5 0% - - - HMMPfam_DUF800 SLC19A3 80704 genome.wustl.edu 37 2 228563510 228563510 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025243.3 -1 reviewed p.A307 0.991 157 0% 86 30.2% 0 - - - - HMMPfam_Folate_carrier,superfamily_MFS_gen_substrate_transporter WDR69 164781 genome.wustl.edu 37 2 228762980 228762980 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178821.1 +1 provisional p.G175S 1.000 149 0% 116 35.3% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 WDR69 164781 genome.wustl.edu 37 2 228786166 228786166 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178821.1 +1 provisional p.T368P 1.000 238 0% 179 19% 0 - possibly_damaging(0.939) deleterious(0) deleterious(0.829) HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 SPHKAP 80309 genome.wustl.edu 37 2 228846573 228846573 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142644.1 -1 validated p.L1655I 1.000 84 0% 79 26.6% 0 - probably_damaging(0.959) tolerated(0.29) neutral(0.432) HMMPfam_AKAP_110 SPHKAP 80309 genome.wustl.edu 37 2 228855836 228855836 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142644.1 -1 validated p.F1613L 1.000 136 0% 78 30.8% 0 - possibly_damaging(0.787) tolerated(0.35) neutral(0.315) NULL SPHKAP 80309 genome.wustl.edu 37 2 228858262 228858262 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142644.1 -1 validated p.S1570F 1.000 41 0% 22 27.3% 0 - probably_damaging(0.995) tolerated(0.06) deleterious(0.780) NULL DNER 92737 genome.wustl.edu 37 2 230231694 230231694 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139072.3 -1 validated p.R666H 1.000 53 0% 58 24.1% 15 13.3% benign(0.093) deleterious(0) neutral(0.452) NULL TRIP12 9320 genome.wustl.edu 37 2 230652300 230652300 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004238.1 -1 provisional p.R1564I 1.000 226 0% 212 15.6% 6 16.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL SP100 6672 genome.wustl.edu 37 2 231313823 231313823 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080391.1 +1 validated p.R182* 0.000 194 0% 285 23.5% 10 10% - - - NULL SP100 6672 genome.wustl.edu 37 2 231331017 231331017 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000427101 +1 known p.A82T 0.000 257 0% 222 23% 10 0% - - - NULL SP100 6672 genome.wustl.edu 37 2 231367814 231367814 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080391.1 +1 validated p.R585I 0.004 264 0% 235 26% 0 - probably_damaging(0.965) tolerated(0.13) deleterious(0.659) NULL ITM2C 81618 genome.wustl.edu 37 2 231741620 231741620 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030926.4 +1 validated p.E167K 0.999 76 0% 42 16.7% 82 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_BRICHOS PSMD1 5707 genome.wustl.edu 37 2 231925993 231925993 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002807.2 +1 reviewed p.S10Y 1.000 67 0% 68 58.8% 2 50% possibly_damaging(0.908) deleterious(0) deleterious(0.806) NULL PSMD1 5707 genome.wustl.edu 37 2 231934867 231934867 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002807.2 +1 reviewed p.F213L 1.000 66 0% 63 33.3% 1 0% benign(0.194) deleterious(0.03) neutral(0.383) NULL PSMD1 5707 genome.wustl.edu 37 2 231943457 231943457 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002807.2 +1 reviewed p.L386I 1.000 65 0% 64 34.4% 4 50% probably_damaging(0.966) deleterious(0.04) deleterious(0.757) NULL DIS3L2 129563 genome.wustl.edu 37 2 233028259 233028259 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152383.4 +1 validated p.F347L 0.970 113 0% 70 28.6% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ECEL1 9427 genome.wustl.edu 37 2 233348762 233348762 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004826.2 -1 validated p.A452 0.016 30 0% 30 30% 1 0% - - - "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" GIGYF2 26058 genome.wustl.edu 37 2 233709228 233709228 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001103147.1 +1 reviewed p.V1104 0.995 178 0% 187 24.6% 1 0% - - - NULL INPP5D 3635 genome.wustl.edu 37 2 234091072 234091072 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000359570 +1 known p.I696 1.000 97 0% 103 27.2% 15 0% - - - HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like UGT1A8 54576 genome.wustl.edu 37 2 234526562 234526562 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019076.4 +1 reviewed p.L70R 0.000 470 0% 431 32.3% 0 - benign(0.004) tolerated(0.43) neutral(0.013) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A9 54600 genome.wustl.edu 37 2 234581063 234581063 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021027.2 +1 reviewed p.F161L 0.000 499 0% 531 29.6% 0 - benign(0) tolerated(1) - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A7 54577 genome.wustl.edu 37 2 234590991 234590991 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019077.2 +1 reviewed p.Y136* 0.000 488 0% 445 33.7% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A7 54577 genome.wustl.edu 37 2 234591286 234591286 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019077.2 +1 reviewed p.L235I 0.271 1014 0% 871 24.5% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase DNAJB3 414061 genome.wustl.edu 37 2 234652302 234652302 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001394.3 -1 validated p.F87 0.993 69 0% 55 23.6% 1 0% - - - superfamily_DnaJ_N TRPM8 79054 genome.wustl.edu 37 2 234851314 234851314 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024080.4 +1 validated p.E207D 1.000 140 0% 138 23.9% 0 - benign(0.051) tolerated(0.45) neutral(0.015) NULL SH3BP4 23677 genome.wustl.edu 37 2 235950322 235950322 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014521.2 +1 reviewed p.L303 0.378 100 0% 55 23.6% 7 57.1% - - - NULL AGAP1 116987 genome.wustl.edu 37 2 236817478 236817478 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037131.1 +1 validated p.A418T 0.995 82 0% 103 29.1% 10 40% benign(0.002) tolerated(0.31) neutral(0.027) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like GBX2 2637 genome.wustl.edu 37 2 237074797 237074797 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001485.2 -1 validated p.K269 1.000 49 0% 44 15.9% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like GBX2 2637 genome.wustl.edu 37 2 237074815 237074815 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001485.2 -1 validated p.E263D 1.000 39 0% 42 11.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like IQCA1 79781 genome.wustl.edu 37 2 237233331 237233331 + Nonstop_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024726.3 -1 provisional p.*823Y 0.011 23 0% 27 25.9% 0 - - - - NULL IQCA1 79781 genome.wustl.edu 37 2 237240011 237240011 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024726.3 -1 provisional p.E788D 0.761 155 0% 187 28.9% 0 - benign(0.229) tolerated(0.07) neutral(0.342) NULL LRRFIP1 9208 genome.wustl.edu 37 2 238671280 238671280 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001137552.1 +1 validated p.I308 0.815 62 0% 34 52.9% 17 35.2% - - - HMMPfam_DUF2051 LRRFIP1 9208 genome.wustl.edu 37 2 238681557 238681557 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001137550.1 +1 validated p.S559Y 1.000 126 0% 111 26.1% 3 33.3% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_DUF2051 RBM44 375316 genome.wustl.edu 37 2 238726362 238726362 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080504.2 +1 validated p.S268Y 0.879 98 0% 101 25.7% 0 - benign(0.011) deleterious(0.01) neutral(0.406) NULL RBM44 375316 genome.wustl.edu 37 2 238738021 238738021 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080504.2 +1 validated p.S922L 0.000 293 0% 337 27.6% 0 - benign(0) tolerated(0.77) neutral(0.001) NULL PER2 8864 genome.wustl.edu 37 2 239184432 239184432 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022817.2 -1 reviewed p.T134A 1.000 54 0% 76 31.6% 2 0% benign(0.343) deleterious(0.01) deleterious(0.514) NULL ASB1 51665 genome.wustl.edu 37 2 239353170 239353170 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040445.1 +1 reviewed p.T228A 0.341 62 0% 51 21.6% 16 37.5% possibly_damaging(0.452) tolerated(0.65) neutral(0.151) superfamily_ANK HDAC4 9759 genome.wustl.edu 37 2 240056275 240056275 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006037.3 -1 reviewed p.S348L 0.997 22 0% 26 19.2% 7 57.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ANKMY1 51281 genome.wustl.edu 37 2 241492374 241492374 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016552.2 -1 validated p.R57Q 0.013 44 0% 53 30.2% 11 0% probably_damaging(0.999) tolerated(0.48) deleterious(0.501) superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain CAPN10 11132 genome.wustl.edu 37 2 241555883 241555883 + Missense_Mutation SNP A A T rs185770929 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023089.1 +1 reviewed p.I118F 0.010 102 0% 213 22.5% 7 42.8% possibly_damaging(0.873) - - NULL C2orf54 79919 genome.wustl.edu 37 2 241831100 241831100 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001085437.1 -1 validated p.F199V 0.375 16 0% 24 37.5% 11 45.4% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL PASK 23178 genome.wustl.edu 37 2 242078136 242078136 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015148.2 -1 validated p.R225H 0.002 65 0% 69 26.1% 4 75% benign(0.372) deleterious(0.03) deleterious(0.483) HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain) D2HGDH 728294 genome.wustl.edu 37 2 242695381 242695381 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152783.3 +1 reviewed p.A420T 0.000 6 0.000 13 0.538 56 46.4% benign(0.003) tolerated(0.06) neutral(0.323) HMMPfam_FAD-oxidase_C,superfamily_FAD-linked oxidases C-terminal domain CHL1 10752 genome.wustl.edu 37 3 369855 369855 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006614.2 +1 reviewed p.S68L 0.000 257 0% 260 28.5% 0 - benign(0) tolerated(0.22) neutral(0.042) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin CHL1 10752 genome.wustl.edu 37 3 370022 370022 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006614.2 +1 reviewed p.E124* 1.000 227 0.4% 241 27.4% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin CHL1 10752 genome.wustl.edu 37 3 424186 424186 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006614.2 +1 reviewed p.E670* 0.746 398 0% 289 16.3% 0 - - - - HMMSmart_SM00060,superfamily_Fibronectin type III CNTN6 27255 genome.wustl.edu 37 3 1262436 1262436 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014461.2 +1 reviewed p.L41V 0.002 299 0% 395 18.5% 0 - benign(0) tolerated(0.07) neutral(0.319) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 CNTN6 27255 genome.wustl.edu 37 3 1414624 1414624 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014461.2 +1 reviewed p.D591N 1.000 156 0% 167 19.8% 0 - possibly_damaging(0.628) deleterious(0.02) deleterious(0.602) superfamily_FN_III-like,HMMPfam_I-set,superfamily_SSF48726 CNTN4 152330 genome.wustl.edu 37 3 2777972 2777972 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175607.1 +1 reviewed p.E43D 1.000 347 0% 244 22.5% 0 - benign(0) tolerated(0.3) neutral(0.029) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CNTN4 152330 genome.wustl.edu 37 3 3078896 3078896 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175607.1 +1 reviewed p.A659V 1.000 329 0% 361 30.7% 1 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CNTN4 152330 genome.wustl.edu 37 3 3095642 3095642 + Missense_Mutation SNP G G A rs186491711 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175607.1 +1 reviewed p.R988Q 1.000 154 0% 125 20% 0 - probably_damaging(0.981) deleterious(0.02) deleterious(0.808) superfamily_Fibronectin type III IL5RA 3568 genome.wustl.edu 37 3 3139722 3139722 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000564.3 -1 reviewed p.E181* 1.000 149 0% 124 25% 0 - - - - HMMPfam_Haemat_rec_S_F2,PatternScan_HEMATOPO_REC_S_F2,superfamily_Fibronectin type III CRBN 51185 genome.wustl.edu 37 3 3209330 3209330 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000424814 -1 known p.R221K 1.000 227 0% 160 26.3% 2 0% - - - HMMPfam_LON,HMMSmart_SM00464 SETMAR 6419 genome.wustl.edu 37 3 4358024 4358024 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006515.3 +1 validated p.E383 0.842 12 0% 12 50% 22 45.4% - - - NULL BHLHE40 8553 genome.wustl.edu 37 3 5023150 5023150 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003670.2 +1 reviewed p.I111T 1.000 493 0% 372 24.7% 117 51.2% benign(0.001) tolerated(0.87) neutral(0.001) HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain GRM7 2917 genome.wustl.edu 37 3 7456755 7456755 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181874.2 +1 reviewed p.R360I 1.000 117 0% 127 29.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ANF_receptor,superfamily_SSF53822 GRM7 2917 genome.wustl.edu 37 3 7728080 7728080 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181874.2 +1 reviewed p.S912Y 1.000 78 0% 70 27.1% 0 - benign(0.303) tolerated(0.16) neutral(0.153) NULL C3orf32 51066 genome.wustl.edu 37 3 8675472 8675472 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000413305 -1 known p.R156Q 0.360 18 0% 10 40% 0 - unknown(0) - - NULL SRGAP3 9901 genome.wustl.edu 37 3 9146367 9146367 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014850.2 -1 validated p.K140N 1.000 52 0% 62 27.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CAMK1 8536 genome.wustl.edu 37 3 9801418 9801418 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000421120 -1 known p.A101T 0.986 207 0% 147 28.6% 22 13.6% - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SYN2 6854 genome.wustl.edu 37 3 12232023 12232023 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000341648 +1 known p.F480L 1.000 379 0% 409 28.1% 0 - unknown(0) tolerated(0.67) - NULL RAF1 5894 genome.wustl.edu 37 3 12632412 12632412 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002880.3 -1 reviewed p.I419V 0.999 120 0% 125 12.8% 70 22.8% possibly_damaging(0.888) deleterious(0) deleterious(0.792) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CHCHD4 131474 genome.wustl.edu 37 3 14154407 14154407 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144636.2 -1 validated p.E150* 1.000 37 0% 41 24.4% 19 52.6% - - - NULL XPC 7508 genome.wustl.edu 37 3 14206335 14206335 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004628.4 -1 reviewed p.R293Q 0.101 76 0% 173 25.4% 1 0% probably_damaging(0.982) tolerated(0.1) deleterious(0.713) NULL GRIP2 80852 genome.wustl.edu 37 3 14558697 14558697 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080423.1 -1 provisional p.S492L 1.000 29 0% 14 28.6% 1 0% - - - NULL C3orf19 51244 genome.wustl.edu 37 3 14700409 14700409 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016474.4 +1 validated p.E94* 1.000 50 0% 48 10.4% 2 0% - - - NULL FGD5 152273 genome.wustl.edu 37 3 14861959 14861959 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152536.3 +1 validated p.E461* 0.981 19 0% 30 23.3% 0 - - - - NULL FGD5 152273 genome.wustl.edu 37 3 14862325 14862325 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152536.3 +1 validated p.L583I 0.996 61 0% 92 28.3% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL NR2C2 7182 genome.wustl.edu 37 3 15073922 15073922 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003298.3 +1 validated p.V402M 1.000 198 0% 215 31.2% 2 50% probably_damaging(0.954) tolerated(0.11) deleterious(0.669) superfamily_Nuclear receptor ligand-binding domain HACL1 26061 genome.wustl.edu 37 3 15605035 15605035 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012260.2 -1 validated p.L512V 1.000 116 0% 99 11.1% 16 31.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TPP_enzyme_C,superfamily_SSF52518 HACL1 26061 genome.wustl.edu 37 3 15628080 15628080 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012260.2 -1 validated p.F137L 1.000 132 0% 109 23.9% 1 0% benign(0.199) tolerated(0.48) neutral(0.029) HMMPfam_TPP_enzyme_N,superfamily_SSF52518 BTD 686 genome.wustl.edu 37 3 15683557 15683557 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000060.2 +1 reviewed p.D151G 1.000 39 0% 37 32.4% 26 30.7% probably_damaging(0.976) tolerated(0.29) neutral(0.447) HMMPfam_CN_hydrolase,superfamily_Carbon-nitrogen hydrolase ANKRD28 23243 genome.wustl.edu 37 3 15836786 15836786 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015199.2 -1 provisional p.G19R 1.000 278 0% 165 26.7% 3 0% benign(0.085) tolerated(1) neutral(0.006) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat GALNTL2 117248 genome.wustl.edu 37 3 16252734 16252734 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_054110.4 +1 validated p.E395K 1.000 56 0% 55 21.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF53448 GALNTL2 117248 genome.wustl.edu 37 3 16254226 16254226 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_054110.4 +1 validated p.E450* 0.999 87 0% 71 21.1% 0 - - - - superfamily_SSF53448 OXNAD1 92106 genome.wustl.edu 37 3 16343361 16343361 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138381.2 +1 validated p.E221K 1.000 125 0% 86 12.8% 4 0% possibly_damaging(0.722) tolerated(0.05) deleterious(0.607) HMMPfam_NAD_binding_1,superfamily_SSF52343 RFTN1 23180 genome.wustl.edu 37 3 16364886 16364886 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015150.1 -1 validated p.S443 0.020 96 0% 85 29.4% 12 8.3% - - - NULL RFTN1 23180 genome.wustl.edu 37 3 16475459 16475459 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015150.1 -1 validated p.F77L 0.802 120 0% 128 21.1% 6 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PLCL2 23228 genome.wustl.edu 37 3 17051778 17051778 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015184.5 +1 validated p.E188* 1.000 196 0% 111 31.5% 1 0% - - - superfamily_SSF47473 PLCL2 23228 genome.wustl.edu 37 3 17052011 17052011 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000419842 +1 known p.P9Q 1.000 214 0% 124 23.4% 0 - - - - HMMPfam_efhand_like,superfamily_EF-hand TBC1D5 9779 genome.wustl.edu 37 3 17418096 17418096 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134381.1 -1 validated p.E208K 1.000 136 0% 123 14.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p TBC1D5 9779 genome.wustl.edu 37 3 17444704 17444704 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134381.1 -1 validated p.R160* 1.000 57 0% 36 25% 0 - - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p SATB1 6304 genome.wustl.edu 37 3 18435961 18435961 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001131010.1 -1 validated p.R400I 1.000 243 0% 193 22.8% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_CUT KCNH8 131096 genome.wustl.edu 37 3 19492658 19492659 + Frame_Shift_Ins INS - - T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144633.2 +1 reviewed p.P530fs 1.000:1.000 - - - - - - - - - superfamily_cNMP_binding KCNH8 131096 genome.wustl.edu 37 3 19556906 19556906 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144633.2 +1 reviewed p.S843Y 1.000 103 0% 106 30.2% 0 - possibly_damaging(0.455) tolerated(0.2) neutral(0.198) NULL ZNF385D 79750 genome.wustl.edu 37 3 21706453 21706453 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024697.2 -1 validated p.S30 1.000 91 1.1% 91 29.7% 2 0% - - - NULL NEK10 152110 genome.wustl.edu 37 3 27343200 27343200 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_199347.2 -1 validated p.F385L 1.000 26 0% 18 22.2% 0 - benign(0) tolerated(0.63) neutral(0.004) superfamily_ARM repeat SLC4A7 9497 genome.wustl.edu 37 3 27450956 27450956 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003615.3 -1 validated p.D602G 1.000 388 0% 350 23.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HCO3_cotransp SLC4A7 9497 genome.wustl.edu 37 3 27453232 27453232 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003615.3 -1 validated p.R547I 1.000 77 0% 57 31.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Phoshotransferase/anion transport protein SLC4A7 9497 genome.wustl.edu 37 3 27473127 27473127 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003615.3 -1 validated p.R262Q 1.000 215 0% 177 27.1% 0 - benign(0.374) tolerated(0.17) neutral(0.178) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein GADL1 339896 genome.wustl.edu 37 3 30885899 30885899 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207359.2 -1 validated p.C237* 1.000 760 0% 581 29.8% 0 - - - - HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases ZNF860 344787 genome.wustl.edu 37 3 32032128 32032128 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001137674.1 +1 provisional p.F519L 0.590 288 0% 294 28.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CNOT10 25904 genome.wustl.edu 37 3 32761719 32761719 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015442.1 +1 provisional p.K286N 1.000 213 0% 267 31.5% 8 75% benign(0) tolerated(0.22) neutral(0.042) superfamily_TPR-like CCR4 1233 genome.wustl.edu 37 3 32995828 32995828 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005508.4 +1 reviewed p.F305C 0.958 78 0% 92 21.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Family A G protein-coupled receptor-like SUSD5 26032 genome.wustl.edu 37 3 33195119 33195119 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015551.1 -1 validated p.E335D 0.001 138 0% 133 28.6% 0 - possibly_damaging(0.636) tolerated(0.49) neutral(0.233) NULL FBXL2 25827 genome.wustl.edu 37 3 33425643 33425643 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012157.3 +1 reviewed p.E372K 1.000 64 0% 45 37.8% 0 - probably_damaging(0.973) deleterious(0.02) deleterious(0.798) superfamily_SSF52047 CLASP2 23122 genome.wustl.edu 37 3 33576784 33576784 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015097.1 -1 validated p.F1243C 1.000 141 0% 111 31.5% 0 - unknown(0) deleterious(0.01) - superfamily_ARM repeat CLASP2 23122 genome.wustl.edu 37 3 33633914 33633914 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015097.1 -1 validated p.R681* 1.000 116 0% 85 15.3% 0 - - - - NULL PDCD6IP 10015 genome.wustl.edu 37 3 33883532 33883532 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013374.4 +1 validated p.E442G 1.000 264 0% 184 24.5% 2 0% benign(0.239) tolerated(0.13) neutral(0.277) NULL STAC 6769 genome.wustl.edu 37 3 36484881 36484881 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003149.1 +1 provisional p.S46Y 1.000 116 0% 128 30.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL STAC 6769 genome.wustl.edu 37 3 36526507 36526507 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003149.1 +1 provisional p.L176 1.000 111 0% 89 22.5% 0 - - - - NULL DCLK3 85443 genome.wustl.edu 37 3 36757005 36757005 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033403.1 -1 validated p.K587N 1.000 226 0% 180 21.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase TRANK1 9881 genome.wustl.edu 37 3 36874155 36874155 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014831.2 -1 provisional p.L1713V 0.080 251 0% 153 33.3% 3 66.6% possibly_damaging(0.933) deleterious(0.01) deleterious(0.784) NULL TRANK1 9881 genome.wustl.edu 37 3 36897168 36897168 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014831.2 -1 provisional p.E755* 1.000 485 0% 427 29% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases TRANK1 9881 genome.wustl.edu 37 3 36898545 36898545 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014831.2 -1 provisional p.E296K 1.000 158 0% 127 26% 0 - possibly_damaging(0.722) tolerated(0.09) deleterious(0.558) NULL LRRFIP2 9209 genome.wustl.edu 37 3 37107798 37107798 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006309.2 -1 validated p.E495* 1.000 250 0.4% 240 27.5% 0 - - - - HMMPfam_DUF2051 GOLGA4 2803 genome.wustl.edu 37 3 37360677 37360677 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002078.4 +1 reviewed p.V513I 0.006 279 0% 206 29.6% 0 - benign(0) tolerated(0.51) neutral(0.009) NULL GOLGA4 2803 genome.wustl.edu 37 3 37365881 37365881 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002078.4 +1 reviewed p.R835I 0.074 298 0% 270 25.2% 1 0% possibly_damaging(0.852) tolerated(0.17) neutral(0.387) NULL GOLGA4 2803 genome.wustl.edu 37 3 37366149 37366149 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002078.4 +1 reviewed p.I924M 0.775 259 0% 220 27.3% 2 0% possibly_damaging(0.81) tolerated(0.06) deleterious(0.627) NULL GOLGA4 2803 genome.wustl.edu 37 3 37366220 37366220 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002078.4 +1 reviewed p.K948T 1.000 294 0% 280 28.9% 2 100% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) NULL ITGA9 3680 genome.wustl.edu 37 3 37560751 37560751 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002207.2 +1 reviewed p.D381A 1.000 38 0% 46 37% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FG-GAP,HMMSmart_Int_alpha,superfamily_SSF69318 ITGA9 3680 genome.wustl.edu 37 3 37826475 37826475 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002207.2 +1 reviewed p.S932L 1.000 72 0% 42 28.6% 0 - probably_damaging(0.983) deleterious(0.03) deleterious(0.793) superfamily_SSF69179 DLEC1 9940 genome.wustl.edu 37 3 38151764 38151764 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007337.2 +1 reviewed p.K1145N 0.000 87 0% 94 25.5% 0 - benign(0.249) tolerated(0.24) neutral(0.063) NULL OXSR1 9943 genome.wustl.edu 37 3 38293863 38293863 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005109.2 +1 reviewed p.R497* 1.000 246 0% 204 29.9% 6 66.6% - - - NULL EXOG 9941 genome.wustl.edu 37 3 38565654 38565654 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005107.3 +1 reviewed p.D303A 0.491 290 0% 224 32.6% 0 - benign(0.183) tolerated(0.07) neutral(0.336) NULL SCN5A 6331 genome.wustl.edu 37 3 38640473 38640473 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099404.1 -1 reviewed p.F653 0.942 52 0% 48 10.4% 0 - - - - NULL SCN5A 6331 genome.wustl.edu 37 3 38651281 38651281 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099404.1 -1 reviewed p.S293F 0.997 39 0% 27 22.2% 0 - benign(0.223) tolerated(0.1) neutral(0.308) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN10A 6336 genome.wustl.edu 37 3 38752383 38752383 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006514.2 -1 validated p.T1365 0.854 29 0% 41 12.2% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SCN10A 6336 genome.wustl.edu 37 3 38798213 38798213 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006514.2 -1 validated p.K414N 1.000 208 0% 218 25.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SCN11A 11280 genome.wustl.edu 37 3 38927619 38927619 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014139.2 -1 validated p.R982 0.533 194 0% 154 29.9% 0 - - - - HMMPfam_Na_trans_assoc SCN11A 11280 genome.wustl.edu 37 3 38938404 38938404 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014139.2 -1 validated p.E779K 0.000 223 0% 122 26.2% 0 - benign(0.033) deleterious(0.01) neutral(0.407) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN11A 11280 genome.wustl.edu 37 3 38950678 38950678 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014139.2 -1 validated p.R370H 0.030 300 0% 237 24.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN11A 11280 genome.wustl.edu 37 3 38967001 38967001 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014139.2 -1 validated e5-1 0.567 120 0% 116 16.4% 0 - - - - - WDR48 57599 genome.wustl.edu 37 3 39104556 39104556 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020839.2 +1 provisional p.R22* 1.000 141 0% 208 27.4% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like WDR48 57599 genome.wustl.edu 37 3 39116415 39116415 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020839.2 +1 provisional p.C291G 1.000 71 0% 82 28% 1 100% benign(0.378) tolerated(0.54) neutral(0.128) superfamily_WD40 repeat-like GORASP1 64689 genome.wustl.edu 37 3 39140339 39140339 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031899.2 -1 reviewed p.A321V 0.025 96 0% 61 24.6% 25 28% unknown(0) tolerated(0.89) - HMMPfam_GRASP55_65 TTC21A 199223 genome.wustl.edu 37 3 39152437 39152437 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105513.2 +1 validated p.L122F 1.000 50 0% 28 21.4% 0 - benign(0.008) tolerated(0.57) neutral(0.006) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like TTC21A 199223 genome.wustl.edu 37 3 39178516 39178516 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105513.2 +1 validated p.G1082 0.678 105 0% 88 10.2% 6 33.3% - - - NULL XIRP1 165904 genome.wustl.edu 37 3 39226930 39226930 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_194293.2 -1 provisional p.S1336N 0.011 48 0% 48 12.5% 0 - benign(0.202) deleterious(0.02) neutral(0.403) NULL ULK4 54986 genome.wustl.edu 37 3 41439606 41439606 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017886.2 -1 validated p.K1214N 0.964 217 0% 244 26.6% 1 0% probably_damaging(0.982) deleterious(0.02) deleterious(0.809) superfamily_ARM-type_fold ULK4 54986 genome.wustl.edu 37 3 41756761 41756761 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017886.2 -1 validated p.E868K 0.947 431 0% 321 23.4% 1 100% benign(0.059) tolerated(0.21) neutral(0.048) NULL ULK4 54986 genome.wustl.edu 37 3 41841695 41841695 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017886.2 -1 validated p.E647* 1.000 557 0% 555 24.3% 0 - - - - superfamily_ARM-type_fold TRAK1 22906 genome.wustl.edu 37 3 42230609 42230609 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042646.1 +1 validated p.R228Q 1.000 76 0% 77 22.1% 2 50% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_HAP1_N NKTR 4820 genome.wustl.edu 37 3 42675174 42675174 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005385.3 +1 reviewed p.E292D 1.000 218 0% 278 32.4% 1 0% possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL NKTR 4820 genome.wustl.edu 37 3 42678833 42678833 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005385.3 +1 reviewed p.R546Q 0.139 217 0% 267 18.4% 1 0% unknown(0) deleterious(0.04) - NULL CCDC13 152206 genome.wustl.edu 37 3 42751220 42751220 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144719.3 -1 validated p.L648 0.960 91 0% 83 14.5% 0 - - - - NULL ZNF662 389114 genome.wustl.edu 37 3 42949563 42949563 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134656.1 +1 validated p.W47* 0.993 62 0% 94 31.9% 0 - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF662 389114 genome.wustl.edu 37 3 42956031 42956031 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134656.1 +1 validated p.E182* 0.001 125 0% 108 21.3% 2 0% - - - NULL ZNF662 389114 genome.wustl.edu 37 3 42956704 42956704 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134656.1 +1 validated p.R406I 1.000 158 0% 127 29.1% 1 0% benign(0.022) deleterious(0) neutral(0.446) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ABHD5 51099 genome.wustl.edu 37 3 43743739 43743739 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016006.4 +1 reviewed p.R56C 0.002 230 0% 225 29.8% 1 0% benign(0.003) tolerated(0.12) neutral(0.261) superfamily_SSF53474 C3orf23 285343 genome.wustl.edu 37 3 44434423 44434423 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173826.3 +1 validated p.R217C 1.000 291 0% 207 23.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C3orf23 285343 genome.wustl.edu 37 3 44441956 44441956 + Nonsense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173826.3 +1 validated p.L332* 0.163 201 0% 173 30.6% 1 0% - - - NULL ZNF167 55888 genome.wustl.edu 37 3 44611996 44611996 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018651.2 +1 validated p.K465T 0.997 207 0% 232 34.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2H2 and C2HC zinc fingers ZNF660 285349 genome.wustl.edu 37 3 44636461 44636461 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173658.1 +1 provisional p.R259Q 0.609 125 0% 176 24.4% 0 - possibly_damaging(0.71) deleterious(0) deleterious(0.701) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF197 10168 genome.wustl.edu 37 3 44673645 44673645 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006991.3 +1 reviewed p.R200I 1.000 461 0% 488 20.5% 2 50% possibly_damaging(0.896) deleterious(0.02) deleterious(0.736) NULL ZNF197 10168 genome.wustl.edu 37 3 44684547 44684547 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006991.3 +1 reviewed p.R642K 1.000 126 0% 137 35.8% 1 0% benign(0.044) tolerated(0.18) neutral(0.059) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF35 7584 genome.wustl.edu 37 3 44700850 44700850 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003420.3 +1 validated p.K332T 1.000 185 0% 179 28.5% 2 50% probably_damaging(0.973) deleterious(0) deleterious(0.859) superfamily_C2H2 and C2HC zinc fingers ZNF502 91392 genome.wustl.edu 37 3 44762721 44762721 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134440.1 +1 validated p.D138Y 0.002 235 0% 226 29.6% 0 - probably_damaging(0.965) tolerated(1) neutral(0.407) superfamily_SSF57667 ZNF502 91392 genome.wustl.edu 37 3 44763112 44763112 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134440.1 +1 validated p.K268T 0.000 377 0% 433 21% 0 - unknown(0) tolerated(0.14) - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF502 91392 genome.wustl.edu 37 3 44763333 44763333 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134440.1 +1 validated p.Q342K 0.996 245 0% 249 14.9% 0 - probably_damaging(0.985) tolerated(0.13) deleterious(0.684) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF501 115560 genome.wustl.edu 37 3 44776374 44776374 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145044.2 +1 validated p.R154I 1.000 214 0% 172 30.8% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF501 115560 genome.wustl.edu 37 3 44776558 44776558 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145044.2 +1 validated p.E215D 1.000 164 0% 143 20.3% 0 - probably_damaging(0.961) deleterious(0.03) deleterious(0.768) superfamily_C2H2 and C2HC zinc fingers KIF15 56992 genome.wustl.edu 37 3 44843015 44843015 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020242.2 +1 validated p.K432N 1.000 119 0% 100 37% 0 - probably_damaging(0.981) tolerated(0.44) neutral(0.438) NULL KIF15 56992 genome.wustl.edu 37 3 44856497 44856497 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000453693 +1 known p.R12Q 0.844 181 0% 204 29.4% 1 100% - - - NULL ALS2CL 259173 genome.wustl.edu 37 3 46718395 46718395 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_147129.2 -1 validated p.F625 0.996 47 2.1% 33 21.2% 1 0% - - - NULL TMIE 259236 genome.wustl.edu 37 3 46750672 46750672 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_147196.2 +1 reviewed p.E90K 1.000 28 0% 34 23.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SETD2 29072 genome.wustl.edu 37 3 47125793 47125793 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014159.6 -1 reviewed p.R1826H 0.999 233 0% 185 29.2% 12 58.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SETD2 29072 genome.wustl.edu 37 3 47161946 47161946 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014159.6 -1 reviewed p.E1394* 1.000 213 0% 167 24.6% 0 - - - - NULL SETD2 29072 genome.wustl.edu 37 3 47164577 47164577 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014159.6 -1 reviewed p.E517* 1.000 210 0% 158 36.7% 0 - - - - NULL KIF9 64147 genome.wustl.edu 37 3 47318816 47318816 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134878.1 -1 validated p.D17N 0.991 76 0% 65 23.1% 22 31.8% possibly_damaging(0.757) tolerated(0.35) neutral(0.300) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases CSPG5 10675 genome.wustl.edu 37 3 47604228 47604228 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006574.3 -1 validated p.K494N 1.000 65 0% 115 36.5% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_Neural_ProG_Cyt SMARCC1 6599 genome.wustl.edu 37 3 47719787 47719787 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003074.3 -1 validated p.R491Q 1.000 152 0% 147 21.1% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SWIRM FBXW12 285231 genome.wustl.edu 37 3 48423358 48423358 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207102.2 +1 validated p.N385T 0.000 216 0% 212 29.7% 0 - probably_damaging(0.972) tolerated(0.06) deleterious(0.736) superfamily_WD40_like PFKFB4 5210 genome.wustl.edu 37 3 48576037 48576037 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004567.2 -1 provisional p.S176R 1.000 84 0% 49 38.8% 5 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_6PF2K,superfamily_SSF52540 QARS 5859 genome.wustl.edu 37 3 49135854 49135854 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005051.1 -1 reviewed p.E672 1.000 78 0% 117 30.8% 289 29.7% - - - superfamily_Ribosomal_L25rel,HMMPfam_tRNA-synt_1c_C QARS 5859 genome.wustl.edu 37 3 49136966 49136966 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005051.1 -1 reviewed p.Q501H 1.000 109 0% 121 25.6% 202 40.5% possibly_damaging(0.654) deleterious(0.02) deleterious(0.613) HMMPfam_tRNA-synt_1c,superfamily_SSF52374 CCDC36 339834 genome.wustl.edu 37 3 49292916 49292916 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135197.1 +1 validated p.R209I 0.000 124 0% 125 20% 0 - possibly_damaging(0.861) tolerated(0.13) deleterious(0.586) NULL USP4 7375 genome.wustl.edu 37 3 49339923 49339923 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003363.3 -1 validated p.S394Y 1.000 123 0% 141 24.1% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases BSN 8927 genome.wustl.edu 37 3 49695089 49695089 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003458.3 +1 reviewed p.I2700 0.133 27 0% 22 27.3% 0 - - - - NULL BSN 8927 genome.wustl.edu 37 3 49699166 49699166 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003458.3 +1 reviewed p.Y3296 0.998 47 0% 35 28.6% 0 - - - - NULL BSN 8927 genome.wustl.edu 37 3 49701234 49701234 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003458.3 +1 reviewed p.Q3841H 0.352 33 0% 35 14.3% 0 - possibly_damaging(0.83) - - NULL CDHR4 389118 genome.wustl.edu 37 3 49836785 49836785 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001007540.2 -1 provisional p.S45 0.003 21 0% 24 16.7% 0 - - - - NULL MST1R 4486 genome.wustl.edu 37 3 49940837 49940837 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002447.2 -1 validated p.A69D 0.864 19 0% 21 28.6% 1 100% probably_damaging(0.99) tolerated(0.26) deleterious(0.476) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain RBM6 10180 genome.wustl.edu 37 3 50112625 50112625 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000421682 +1 known p.F32L 1.000 64 0% 54 22.2% 2 50% benign(0.094) - - NULL ZMYND10 51364 genome.wustl.edu 37 3 50379042 50379042 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015896.2 -1 validated p.R404C 1.000 16 0% 35 25.7% 10 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-MYND,PatternScan_ZF_MYND_1 CACNA2D2 9254 genome.wustl.edu 37 3 50421734 50421734 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005505.1 -1 reviewed p.S182Y 0.783 79 0% 88 26.1% 0 - benign(0.418) deleterious(0.03) deleterious(0.500) HMMPfam_VWA_N MAPKAPK3 7867 genome.wustl.edu 37 3 50677893 50677893 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004635.3 +1 reviewed p.N106D 1.000 185 0% 202 27.2% 23 47.8% probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DOCK3 1795 genome.wustl.edu 37 3 51102026 51102026 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004947.3 +1 validated p.E155* 1.000 180 0% 135 34.8% 2 0% - - - NULL DOCK3 1795 genome.wustl.edu 37 3 51264764 51264764 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004947.3 +1 validated p.S476 0.983 357 0% 309 29.1% 0 - - - - NULL VPRBP 9730 genome.wustl.edu 37 3 51500836 51500836 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014703.2 -1 validated p.D82Y 1.000 231 0% 312 20.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat IQCF2 389123 genome.wustl.edu 37 3 51895692 51895692 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203424.1 +1 validated p.R4* 0.000 81 0% 83 41% 0 - - - - NULL PARP3 10039 genome.wustl.edu 37 3 51978481 51978481 + Missense_Mutation SNP C C T rs146036726 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001003931.2 +1 reviewed p.R137W 0.954 64 0% 61 16.4% 5 60% benign(0) tolerated(0.06) neutral(0.323) HMMPfam_WGR,HMMSmart_WGR GLYCTK 132158 genome.wustl.edu 37 3 52325015 52325015 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145262.3 +1 reviewed p.F139 0.600 18 0% 27 44.4% 6 33.3% - - - superfamily_GckA/TtuD-like DNAH1 25981 genome.wustl.edu 37 3 52404144 52404144 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015512.4 +1 validated p.R2053W 0.993 36 0% 37 40.5% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_P-loop containing nucleoside triphosphate hydrolases PHF7 51533 genome.wustl.edu 37 3 52455724 52455724 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016483.4 +1 reviewed p.E212* 1.000 75 0% 78 30.8% 1 0% - - - NULL NISCH 11188 genome.wustl.edu 37 3 52492695 52492695 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007184.3 +1 validated p.K65N 1.000 46 0% 58 29.3% 0 - probably_damaging(0.997) tolerated(0.35) deleterious(0.487) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain PBRM1 55193 genome.wustl.edu 37 3 52637703 52637703 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018165.4 -1 validated p.F839L 1.000 128 0% 111 27.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_BROMO,superfamily_Bromodomain GLT8D1 55830 genome.wustl.edu 37 3 52730674 52730674 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010983.1 -1 reviewed p.S111P 1.000 97 0% 114 26.3% 44 40.9% benign(0.286) tolerated(0.24) neutral(0.126) HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases NEK4 6787 genome.wustl.edu 37 3 52799941 52799941 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003157.3 -1 validated p.D210Y 1.000 339 0% 314 23.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NEK4 6787 genome.wustl.edu 37 3 52802354 52802354 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003157.3 -1 validated p.Q120 1.000 399 0.3% 354 32.5% 1 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ITIH1 3697 genome.wustl.edu 37 3 52812467 52812467 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002215.2 +1 reviewed p.E84K 1.000 139 0% 141 27.7% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_SM00609,HMMPfam_VIT ITIH1 3697 genome.wustl.edu 37 3 52818456 52818456 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002215.2 +1 reviewed p.R457I 1.000 32 0% 42 52.4% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like SFMBT1 51460 genome.wustl.edu 37 3 52962235 52962235 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005158.1 -1 reviewed p.K340N 1.000 196 0% 146 26% 4 100% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT DCP1A 55802 genome.wustl.edu 37 3 53376192 53376192 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018403.5 -1 reviewed p.L95I 1.000 61 0% 35 34.3% 0 - - - - HMMPfam_DCP1,superfamily_PH domain-like CACNA1D 776 genome.wustl.edu 37 3 53760986 53760986 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000720.2 +1 validated p.I747 0.900 160 0% 162 25.3% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 CACNA1D 776 genome.wustl.edu 37 3 53820921 53820921 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000720.2 +1 validated p.R1642Q 1.000 124 0% 112 26.8% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_Ca_chan_IQ CACNA1D 776 genome.wustl.edu 37 3 53820926 53820926 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000720.2 +1 validated p.E1644* 1.000 125 0% 120 10% 0 - - - - HMMPfam_Ca_chan_IQ CACNA2D3 55799 genome.wustl.edu 37 3 54354505 54354505 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018398.2 +1 reviewed p.E81* 1.000 22 0% 20 30% 0 - - - - NULL IL17RD 54756 genome.wustl.edu 37 3 57132059 57132059 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017563.3 -1 validated p.D558N 1.000 32 0% 33 24.2% 1 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL HESX1 8820 genome.wustl.edu 37 3 57233869 57233869 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003865.2 -1 reviewed p.I26 0.941 102 0% 114 24.6% 0 - - - - NULL FAM116A 201627 genome.wustl.edu 37 3 57616187 57616187 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152678.2 -1 validated p.Q527H 1.000 88 0% 137 20.4% 0 - benign(0.002) deleterious(0.04) neutral(0.349) HMMPfam_DUF1630 SLMAP 7871 genome.wustl.edu 37 3 57847784 57847784 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007159.2 +1 validated p.E313* 1.000 251 0% 256 25.4% 0 - - - - NULL SLMAP 7871 genome.wustl.edu 37 3 57893682 57893682 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007159.2 +1 validated p.E491K 1.000 123 0% 106 37.7% 7 14.2% probably_damaging(0.957) deleterious(0.01) deleterious(0.806) NULL FLNB 2317 genome.wustl.edu 37 3 58140614 58140614 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001457.3 +1 reviewed p.K2244T 1.000 40 0% 50 36% 27 59.2% benign(0.389) deleterious(0.02) deleterious(0.508) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin PXK 54899 genome.wustl.edu 37 3 58351613 58351613 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017771.3 +1 provisional p.R39* 1.000 124 0% 131 32.8% 0 - - - - HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain FEZF2 55079 genome.wustl.edu 37 3 62355839 62355839 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018008.3 -1 validated p.K433N 1.000 90 0% 65 26.2% 0 - possibly_damaging(0.45) tolerated(0.16) neutral(0.207) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CADPS 8618 genome.wustl.edu 37 3 62739116 62739116 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003716.3 -1 reviewed p.Q296H 1.000 103 0% 107 26.2% 0 - possibly_damaging(0.802) deleterious(0) deleterious(0.746) NULL ADAMTS9 56999 genome.wustl.edu 37 3 64589974 64589974 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182920.1 -1 reviewed p.A1170T 0.697 79 0% 81 32.1% 1 0% benign(0.032) tolerated(0.56) neutral(0.008) NULL MAGI1 9223 genome.wustl.edu 37 3 65376975 65376975 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001033057.1 -1 reviewed p.R753Q 0.997 76 0% 72 27.8% 4 0% possibly_damaging(0.524) tolerated(0.37) neutral(0.195) NULL LRIG1 26018 genome.wustl.edu 37 3 66432005 66432005 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015541.2 -1 validated p.V890I 0.000 189 0% 125 22.4% 20 45% benign(0.001) tolerated(0.57) neutral(0.006) NULL LRIG1 26018 genome.wustl.edu 37 3 66436591 66436591 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015541.2 -1 validated p.E535* 1.000 180 0% 100 30% 8 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin KBTBD8 84541 genome.wustl.edu 37 3 67054645 67054645 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032505.2 +1 validated p.E392D 1.000 275 0% 265 20.8% 0 - benign(0) tolerated(0.62) neutral(0.004) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain FAM19A1 407738 genome.wustl.edu 37 3 68466566 68466566 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_213609.2 +1 reviewed p.V85 0.008 248 0% 196 28.1% 0 - - - - NULL FAM19A4 151647 genome.wustl.edu 37 3 68802149 68802149 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005527.1 -1 reviewed p.G51W 1.000 86 0% 74 24.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMF1 7110 genome.wustl.edu 37 3 69082718 69082718 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007114.2 -1 validated p.K794N 1.000 126 0% 120 23.3% 5 40% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL TMF1 7110 genome.wustl.edu 37 3 69097037 69097037 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007114.2 -1 validated p.A273 0.833 104 0% 97 40.2% 1 100% - - - NULL TMF1 7110 genome.wustl.edu 37 3 69101175 69101175 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007114.2 -1 validated p.Q21 1.000 75 0% 104 43.3% 4 50% - - - NULL UBA3 9039 genome.wustl.edu 37 3 69106448 69106448 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003968.3 -1 reviewed p.R308I 1.000 399 0.3% 404 36.6% 11 36.3% probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_UBACT,superfamily_Activating enzymes of the ubiquitin-like proteins ARL6IP5 10550 genome.wustl.edu 37 3 69153667 69153667 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000412089 +1 known p.E136* 1.000 114 0% 96 30.2% 87 36.7% - - - NULL MITF 4286 genome.wustl.edu 37 3 70014163 70014163 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198159.2 +1 reviewed p.D443N 1.000 195 0% 173 25.4% 3 33.3% probably_damaging(0.986) deleterious(0.05) deleterious(0.780) NULL FOXP1 27086 genome.wustl.edu 37 3 71021728 71021728 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032682.4 -1 reviewed p.R544* 1.000 208 0% 209 27.3% 6 0% - - - "HMMPfam_Fork_head,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain" RYBP 23429 genome.wustl.edu 37 3 72428561 72428561 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012234.4 -1 validated p.S49F 1.000 243 0% 154 24% 2 100% unknown(0) deleterious(0) - NULL SHQ1 55164 genome.wustl.edu 37 3 72890312 72890312 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018130.2 -1 validated p.E124* 1.000 279 0% 239 26.4% 2 0% - - - NULL CNTN3 5067 genome.wustl.edu 37 3 74350823 74350823 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020872.1 -1 validated p.S640 0.045 152 0% 112 30.4% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ROBO2 6092 genome.wustl.edu 37 3 77656968 77656968 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001128929.1 +1 reviewed p.E1033* 1.000 100 0% 148 24.3% 0 - benign(0.001) tolerated(0.17) neutral(0.059) NULL ROBO1 6091 genome.wustl.edu 37 3 78649334 78649334 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002941.3 -1 reviewed p.R1624* 1.000 340 0% 255 65.1% 7 57.1% - - - NULL VGLL3 389136 genome.wustl.edu 37 3 87027768 87027768 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016206.2 -1 validated p.E104G 1.000 167 0.6% 147 29.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_SM00711,HMMPfam_Vg_Tdu POU1F1 5449 genome.wustl.edu 37 3 87309172 87309172 + Nonsense_Mutation SNP C C A rs104893760 byCluster TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001122757.1 -1 reviewed p.E276* 1.000 101 0% 112 9.8% 0 - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 HTR1F 3355 genome.wustl.edu 37 3 88040624 88040624 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000866.3 +1 validated p.S242F 0.900 173 0% 152 26.3% 0 - possibly_damaging(0.673) deleterious(0.03) deleterious(0.603) HMMPfam_7tm_1,superfamily_SSF81321 EPHA3 2042 genome.wustl.edu 37 3 89468468 89468468 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005233.5 +1 reviewed p.L668M 1.000 137 0% 179 17.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PROS1 5627 genome.wustl.edu 37 3 93646100 93646100 + Silent SNP C C T rs6121 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000313.3 -1 reviewed p.P76 0.052 191 0% 110 21.8% 0 - - - - HMMPfam_Gla,HMMSmart_GLA,PatternScan_GLA_1,superfamily_VitK_dep_GLA LOC391556 391556 genome.wustl.edu 37 3 96285498 96285498 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002342412.1 +1 model p.E100* 1.000 93 0% 68 30.9% 0 - - - - NULL EPHA6 285220 genome.wustl.edu 37 3 96706234 96706234 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080448.2 +1 provisional p.N171H 1.000 433 0% 267 25.8% 2 0% benign(0.29) tolerated(0.1) neutral(0.376) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like OR5H14 403273 genome.wustl.edu 37 3 97869149 97869149 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000394193 +1 known e1+2 0.007 89 0% 85 29.4% 0 - benign(0.004) tolerated(0.09) neutral(0.296) - OR5H6 79295 genome.wustl.edu 37 3 97983860 97983860 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005479.1 +1 provisional p.K244N 0.027 188 0.5% 157 21% 0 - benign(0.011) deleterious(0.03) neutral(0.365) HMMPfam_7tm_1,superfamily_SSF81321 DCBLD2 131566 genome.wustl.edu 37 3 98544180 98544180 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080927.3 -1 validated p.N201S 0.927 50 0% 59 23.7% 0 - benign(0) tolerated(0.18) neutral(0.056) HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain COL8A1 1295 genome.wustl.edu 37 3 99513629 99513629 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001850.3 +1 reviewed p.P295H 1.000 35 0% 35 14.3% 0 - unknown(0) deleterious(0.02) - HMMPfam_Collagen FILIP1L 11259 genome.wustl.edu 37 3 99568899 99568899 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182909.2 -1 validated p.E541* 1.000 277 0% 261 23.4% 0 - - - - HMMPfam_CortBP2 FILIP1L 11259 genome.wustl.edu 37 3 99569252 99569252 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182909.2 -1 validated p.R423I 1.000 466 0% 395 31.4% 0 - possibly_damaging(0.867) deleterious(0) deleterious(0.781) superfamily_Prefoldin,HMMPfam_CortBP2 FILIP1L 11259 genome.wustl.edu 37 3 99569454 99569454 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182909.2 -1 validated p.E356* 1.000 680 0.1% 585 28.4% 1 0% - - - superfamily_Prefoldin,HMMPfam_CortBP2 C3orf26 84319 genome.wustl.edu 37 3 99886630 99886630 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032359.3 +1 validated p.S155L 0.996 195 0% 159 24.5% 14 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 LNP1 348801 genome.wustl.edu 37 3 100170629 100170629 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001085451.1 +1 validated p.E75* 0.359 235 0% 240 29.2% 3 0% - - - NULL GPR128 84873 genome.wustl.edu 37 3 100413629 100413629 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032787.2 +1 validated p.V726 0.997 134 0% 115 26.1% 0 - - - - HMMPfam_7tm_2 RG9MTD1 54931 genome.wustl.edu 37 3 101283685 101283685 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017819.2 +1 provisional p.F20L 0.001 281 0% 294 34.7% 3 33.3% benign(0) tolerated(0.45) neutral(0.012) NULL RG9MTD1 54931 genome.wustl.edu 37 3 101284644 101284644 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017819.2 +1 provisional p.K340T 0.997 116 0% 128 39.1% 9 66.6% possibly_damaging(0.667) deleterious(0.03) deleterious(0.601) HMMPfam_tRNA_m1G_MT ZBTB11 27107 genome.wustl.edu 37 3 101370125 101370125 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014415.3 -1 validated p.I1016S 1.000 199 0% 253 25.7% 9 33.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CCDC54 84692 genome.wustl.edu 37 3 107096631 107096631 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032600.2 +1 provisional p.L66R 0.024 269 0% 299 30.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CCDC54 84692 genome.wustl.edu 37 3 107097154 107097154 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032600.2 +1 provisional p.Y240* 0.576 391 0.5% 390 34.4% 0 - - - - NULL BBX 56987 genome.wustl.edu 37 3 107491558 107491558 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142568.1 +1 validated p.E330D 0.026 389 0% 285 26% 0 - benign(0) tolerated(0.23) neutral(0.042) NULL BBX 56987 genome.wustl.edu 37 3 107491739 107491739 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142568.1 +1 validated p.E391* 1.000 456 0% 357 30.3% 0 - - - - NULL CD47 961 genome.wustl.edu 37 3 107778358 107778358 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001777.3 -1 reviewed p.G211D 1.000 135 0% 146 19.9% 69 43.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_CD47 KIAA1524 57650 genome.wustl.edu 37 3 108279658 108279658 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020890.2 -1 validated p.A555 0.928 337 0% 299 20.1% 3 33.3% - - - NULL DZIP3 9666 genome.wustl.edu 37 3 108353789 108353789 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014648.3 +1 validated p.K296N 1.000 210 0% 167 18% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL MORC1 27136 genome.wustl.edu 37 3 108688533 108688533 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014429.3 -1 reviewed p.K863E 1.000 202 0% 141 15.6% 0 - benign(0.307) deleterious(0) deleterious(0.540) NULL MORC1 27136 genome.wustl.edu 37 3 108788521 108788521 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014429.3 -1 reviewed p.R258I 1.000 283 0% 270 27% 0 - probably_damaging(0.981) tolerated(0.11) deleterious(0.697) superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase PVRL3 25945 genome.wustl.edu 37 3 110852559 110852559 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015480.1 +1 provisional p.E383* 1.000 123 0% 119 21.8% 0 - - - - NULL PVRL3 25945 genome.wustl.edu 37 3 110852766 110852766 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015480.1 +1 provisional p.E452* 1.000 152 0% 118 39.8% 2 0% - - - NULL CD96 10225 genome.wustl.edu 37 3 111366486 111366486 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198196.2 +1 reviewed p.R541I 1.000 269 0% 266 31.6% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PHLDB2 90102 genome.wustl.edu 37 3 111632536 111632536 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134438.1 +1 validated p.S569I 1.000 727 0% 688 30.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PHLDB2 90102 genome.wustl.edu 37 3 111667830 111667830 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134438.1 +1 validated p.L847I 1.000 130 0% 146 26.7% 0 - benign(0.002) tolerated(0.41) neutral(0.015) NULL C3orf52 79669 genome.wustl.edu 37 3 111821807 111821807 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024616.2 +1 validated p.E131K 0.011 59 0% 33 33.3% 1 100% benign(0.001) tolerated(0.38) neutral(0.018) NULL SLC9A10 285335 genome.wustl.edu 37 3 111921244 111921244 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_183061.1 -1 validated p.L725 0.004 251 0% 225 20.4% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SLC9A10 285335 genome.wustl.edu 37 3 111988784 111988784 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_183061.1 -1 validated p.L252M 0.000 187 0% 172 30.2% 0 - probably_damaging(0.988) tolerated(0.09) deleterious(0.734) HMMPfam_Na_H_Exchanger CD200R1 131450 genome.wustl.edu 37 3 112644021 112644021 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138806.3 -1 reviewed p.S263 0.001 239 0% 153 28.8% 0 - - - - NULL BOC 91653 genome.wustl.edu 37 3 113003262 113003262 + Missense_Mutation SNP C C A rs3814404 byCluster;byFrequency;by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033254.2 +1 validated p.P912T 0.979 79 0% 91 14.3% 1 0% benign(0.068) deleterious(0.02) neutral(0.388) NULL SPICE1 152185 genome.wustl.edu 37 3 113176071 113176071 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144718.3 -1 validated p.K523N 0.002 115 0% 172 58.1% 1 100% benign(0) tolerated(0.56) neutral(0.006) NULL SPICE1 152185 genome.wustl.edu 37 3 113187238 113187238 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144718.3 -1 validated p.P301 0.346 99 0% 122 36.1% 5 0% - - - NULL SIDT1 54847 genome.wustl.edu 37 3 113295785 113295785 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017699.2 +1 validated p.H178N 1.000 482 0% 324 29% 0 - benign(0) tolerated(0.51) neutral(0.009) NULL SIDT1 54847 genome.wustl.edu 37 3 113302263 113302263 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017699.2 +1 validated p.D252A 1.000 85 0% 58 25.9% 0 - benign(0.002) tolerated(0.81) neutral(0.001) NULL KIAA2018 205717 genome.wustl.edu 37 3 113374106 113374106 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001009899.2 -1 validated p.E2141D 1.000 233 0% 193 12.4% 0 - possibly_damaging(0.68) tolerated(0.56) neutral(0.249) NULL ATP6V1A 523 genome.wustl.edu 37 3 113499959 113499959 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001690.2 +1 reviewed p.E49K 1.000 91 0% 86 17.4% 3 66.6% benign(0.001) tolerated(0.9) - HMMPfam_ATP-synt_ab_N,superfamily_N-terminal domain of alpha and beta subunits of F1 ATP synthase ATP6V1A 523 genome.wustl.edu 37 3 113517124 113517124 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001690.2 +1 reviewed p.R442H 1.000 248 0% 241 22.4% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ATP-synt_ab,superfamily_P-loop containing nucleoside triphosphate hydrolases GRAMD1C 54762 genome.wustl.edu 37 3 113649560 113649560 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017577.4 +1 validated e11-1 1.000 229 0% 149 38.3% 0 - - - - - KIAA1407 57577 genome.wustl.edu 37 3 113753869 113753869 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020817.1 -1 predicted p.E241K 0.996 385 0% 403 20.3% 0 - benign(0.001) tolerated(0.83) neutral(0.001) NULL QTRTD1 79691 genome.wustl.edu 37 3 113804698 113804698 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024638.2 +1 provisional p.K399Q 0.473 289 0% 204 13.7% 0 - possibly_damaging(0.837) tolerated(0.09) deleterious(0.616) HMMPfam_TGT,superfamily_tRNA_ribo_trans DRD3 1814 genome.wustl.edu 37 3 113858394 113858394 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000796.3 -1 reviewed p.R226* 1.000 273 0.4% 205 20% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF80 7634 genome.wustl.edu 37 3 113955601 113955601 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007136.3 -1 validated p.C107 0.009 81 0% 64 25% 0 - - - - HMMSmart_ZnF_C2H2,superfamily_SSF57667 ARHGAP31 57514 genome.wustl.edu 37 3 119134282 119134282 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020754.2 +1 reviewed p.A1169V 0.642 309 0% 184 33.7% 0 - benign(0) deleterious(0) neutral(0.445) NULL ARHGAP31 57514 genome.wustl.edu 37 3 119135075 119135075 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020754.2 +1 reviewed p.V1433 1.000 427 0% 259 27.4% 1 0% - - - NULL ADPRH 141 genome.wustl.edu 37 3 119305458 119305458 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001125.2 +1 reviewed p.S209A 0.028 114 0% 130 17.7% 0 - benign(0) tolerated(0.36) neutral(0.020) HMMPfam_ADP_ribosyl_GH,superfamily_ADP-ribosylglycohydrolase GSK3B 2932 genome.wustl.edu 37 3 119631582 119631582 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002093.3 -1 reviewed p.I228 1.000 162 0% 110 27.3% 7 28.5% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase GSK3B 2932 genome.wustl.edu 37 3 119721018 119721018 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002093.3 -1 reviewed p.E53K 1.000 798 0% 590 21.9% 3 33.3% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL STXBP5L 9515 genome.wustl.edu 37 3 120973919 120973919 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014980.2 +1 validated p.I540N 1.000 91 0% 58 25.9% 0 - possibly_damaging(0.743) deleterious(0) deleterious(0.717) HMMSmart_SM00320,superfamily_WD40 repeat-like STXBP5L 9515 genome.wustl.edu 37 3 120976080 120976080 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014980.2 +1 validated p.P578T 1.000 284 0% 201 35.8% 0 - benign(0.275) tolerated(0.06) neutral(0.352) NULL POLQ 10721 genome.wustl.edu 37 3 121207035 121207035 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_199420.3 -1 validated p.K1581N 0.002 444 0.2% 416 29.3% 0 - benign(0.004) tolerated(1) - NULL POLQ 10721 genome.wustl.edu 37 3 121255979 121255979 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_199420.3 -1 validated p.K236N 0.986 176 0% 219 34.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases FBXO40 51725 genome.wustl.edu 37 3 121341804 121341804 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016298.3 +1 validated p.R510* 1.000 122 0% 120 23.3% 0 - - - - NULL FBXO40 51725 genome.wustl.edu 37 3 121341855 121341855 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016298.3 +1 validated p.P527S 1.000 129 0% 151 34.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FBXO40 51725 genome.wustl.edu 37 3 121341991 121341991 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016298.3 +1 validated p.S572F 0.436 241 0% 215 26% 0 - possibly_damaging(0.502) tolerated(0.19) neutral(0.217) HMMPfam_F-box,superfamily_F-box domain HCLS1 3059 genome.wustl.edu 37 3 121354633 121354633 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005335.4 -1 validated p.E214* 1.000 82 0% 125 29.6% 12 0% - - - HMMPfam_HS1_rep GOLGB1 2804 genome.wustl.edu 37 3 121395762 121395762 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004487.3 -1 validated p.R3047I 1.000 125 0% 125 30.4% 12 83.3% benign(0.17) deleterious(0) neutral(0.460) NULL GOLGB1 2804 genome.wustl.edu 37 3 121415190 121415190 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004487.3 -1 validated p.E1389* 0.332 371 0% 301 34.2% 0 - - - - NULL GOLGB1 2804 genome.wustl.edu 37 3 121416426 121416426 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004487.3 -1 validated p.L977F 0.997 331 0% 262 26.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Spectrin repeat GOLGB1 2804 genome.wustl.edu 37 3 121435888 121435888 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004487.3 -1 validated p.K323N 1.000 248 0% 198 30.3% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SLC15A2 6565 genome.wustl.edu 37 3 121615309 121615309 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021082.3 +1 validated p.F54L 1.000 373 0.3% 215 20.5% 0 - possibly_damaging(0.844) deleterious(0) deleterious(0.768) superfamily_MFS_gen_substrate_transporter KPNA1 3836 genome.wustl.edu 37 3 122180093 122180093 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002264.3 -1 reviewed p.R137Q 1.000 289 0% 199 32.7% 2 100% possibly_damaging(0.921) deleterious(0.01) deleterious(0.776) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat PARP9 83666 genome.wustl.edu 37 3 122259379 122259379 + Missense_Mutation SNP G G C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031458.2 -1 validated p.L604V 0.999 191 0% 186 37.1% 49 44.8% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL PARP15 165631 genome.wustl.edu 37 3 122334567 122334567 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152615.1 +1 validated p.R4I 0.015 113 0% 117 29.1% 0 - benign(0.014) - - NULL PARP15 165631 genome.wustl.edu 37 3 122351038 122351038 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001113523.1 +1 validated p.R515Q 0.060 126 0% 129 31% 1 0% benign(0.037) tolerated(0.73) neutral(0.004) HMMPfam_PARP,superfamily_ADP-ribosylation PARP14 54625 genome.wustl.edu 37 3 122423529 122423529 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017554.2 +1 validated p.K1158N 0.000 62 0% 52 28.8% 2 100% possibly_damaging(0.802) deleterious(0.02) deleterious(0.685) superfamily_Macro domain-like ADCY5 111 genome.wustl.edu 37 3 123010203 123010203 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_183357.1 -1 validated p.E1028D 1.000 44 0% 23 21.7% 1 0% possibly_damaging(0.919) tolerated(0.24) neutral(0.407) NULL MYLK 4638 genome.wustl.edu 37 3 123426708 123426708 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_053025.3 -1 reviewed p.L761 0.947 53 0% 38 15.8% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MYLK 4638 genome.wustl.edu 37 3 123428699 123428699 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_053025.3 -1 reviewed p.A616T 0.000 208 0% 135 25.9% 0 - benign(0.382) tolerated(0.65) neutral(0.125) superfamily_Immunoglobulin CCDC14 64770 genome.wustl.edu 37 3 123652563 123652563 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022757.4 -1 validated p.Q468H 0.948 27 0% 23 26.1% 2 0% benign(0.095) deleterious(0.02) neutral(0.390) NULL KALRN 8997 genome.wustl.edu 37 3 123946840 123946840 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001024660.3 +1 reviewed p.S24Y 1.000 256 0% 243 23.5% 0 - benign(0.313) tolerated(0.25) neutral(0.135) NULL KALRN 8997 genome.wustl.edu 37 3 124174168 124174168 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001024660.3 +1 reviewed p.R1231* 1.000 188 0% 196 29.1% 0 - - - - HMMSmart_SM00150,superfamily_Spectrin repeat KALRN 8997 genome.wustl.edu 37 3 124431974 124431974 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000354186 +1 known p.S2725Y 0.999 149 0% 146 22.6% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SLC12A8 84561 genome.wustl.edu 37 3 124802800 124802800 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024628.5 -1 validated p.F693 0.936 42 0% 31 29% 32 43.7% - - - NULL SLC12A8 84561 genome.wustl.edu 37 3 124826370 124826370 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024628.5 -1 validated p.Q554K 0.008 256 0% 360 31.1% 5 60% benign(0) tolerated(0.47) neutral(0.011) NULL ZNF148 7707 genome.wustl.edu 37 3 125032430 125032430 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021964.2 -1 validated p.E19K 1.000 455 0% 340 31.5% 0 - benign(0.002) - - NULL SNX4 8723 genome.wustl.edu 37 3 125170202 125170202 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003794.2 -1 reviewed p.L418V 0.980 277 0% 273 27.8% 8 0% possibly_damaging(0.876) tolerated(0.14) deleterious(0.591) NULL CCDC37 348807 genome.wustl.edu 37 3 126114876 126114876 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182628.2 +1 validated p.K11N 0.008 52 0% 47 25.5% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL C3orf22 152065 genome.wustl.edu 37 3 126270934 126270934 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152533.1 -1 predicted p.P41S 0.000 19 0% 26 53.8% 0 - probably_damaging(0.974) tolerated(0.82) neutral(0.416) NULL KBTBD12 166348 genome.wustl.edu 37 3 127642779 127642779 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207335.2 +1 validated p.R292M 0.990 245 0% 285 30.5% 0 - possibly_damaging(0.843) tolerated(0.06) deleterious(0.645) NULL KIAA1257 57501 genome.wustl.edu 37 3 128712142 128712142 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020741.2 -1 predicted p.S2 0.002 10 0% 28 25% 0 - - - - NULL COL6A5 256076 genome.wustl.edu 37 3 130174422 130174422 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000512836 +1 known p.P486S 0.008 143 0% 167 22.2% 0 - - - - NULL COL6A6 131873 genome.wustl.edu 37 3 130293339 130293339 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001102608.1 +1 provisional p.R1173C 0.006 148 0% 125 17.6% 0 - probably_damaging(1) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL6A6 131873 genome.wustl.edu 37 3 130394125 130394125 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001102608.1 +1 provisional p.L2226I 0.012 50 0% 31 29% 0 - benign(0.052) - - NULL PIK3R4 30849 genome.wustl.edu 37 3 130463485 130463485 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014602.2 -1 validated p.R193I 1.000 287 0% 246 30.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,superfamily_Kinase_like ATP2C1 27032 genome.wustl.edu 37 3 130714897 130714897 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001486.1 +1 reviewed p.E690K 1.000 306 0% 232 31.5% 23 43.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Calcium ATPase transmembrane domain M NEK11 79858 genome.wustl.edu 37 3 130887712 130887712 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024800.4 +1 reviewed p.E405 0.000 76 0% 45 11.1% 9 0% - - - NULL CPNE4 131034 genome.wustl.edu 37 3 131624173 131624173 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130808.1 -1 reviewed p.D39Y 1.000 226 0% 286 25.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ACPP 55 genome.wustl.edu 37 3 132050547 132050547 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134194.1 +1 reviewed p.K91N 0.000 91 0% 70 14.3% 0 - benign(0.001) tolerated(0.45) neutral(0.012) HMMPfam_Acid_phosphat_A,superfamily_SSF53254 DNAJC13 23317 genome.wustl.edu 37 3 132242498 132242498 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015268.3 +1 validated p.E2001* 1.000 305 0% 273 25.3% 1 0% - - - superfamily_ARM repeat CCRL1 51554 genome.wustl.edu 37 3 132319451 132319451 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016557.2 +1 reviewed p.K70N 1.000 542 0% 391 14.6% 0 - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) HMMPfam_7tm_1,superfamily_SSF81321 NPHP3 27031 genome.wustl.edu 37 3 132415580 132415580 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153240.3 -1 reviewed p.I722 0.000 181 0% 200 22% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases NPHP3 27031 genome.wustl.edu 37 3 132434005 132434005 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153240.3 -1 reviewed p.S294Y 1.000 166 0% 138 29% 0 - possibly_damaging(0.948) deleterious(0.03) deleterious(0.756) NULL TOPBP1 11073 genome.wustl.edu 37 3 133356909 133356909 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007027.3 -1 reviewed p.V777 0.069 304 0% 383 25.8% 3 0% - - - NULL CEP63 80254 genome.wustl.edu 37 3 134277079 134277079 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025180.3 +1 reviewed p.M521I 1.000 285 0% 249 28.9% 0 - benign(0.06) tolerated(0.27) neutral(0.038) NULL KY 339855 genome.wustl.edu 37 3 134338004 134338004 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178554.4 -1 validated p.F232 1.000 176 0% 206 38.8% 0 - - - - HMMPfam_Transglut_core,HMMSmart_SM00460,superfamily_Cysteine proteinases EPHB1 2047 genome.wustl.edu 37 3 134911655 134911655 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004441.4 +1 reviewed p.S707Y 1.000 77 0% 67 10.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PPP2R3A 5523 genome.wustl.edu 37 3 135720842 135720842 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002718.3 +1 reviewed p.D168N 1.000 306 0% 244 31.1% 0 - possibly_damaging(0.535) tolerated(0.28) neutral(0.212) NULL PPP2R3A 5523 genome.wustl.edu 37 3 135722213 135722213 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002718.3 +1 reviewed p.L625I 1.000 339 0% 263 34.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MSL2 55167 genome.wustl.edu 37 3 135869997 135869997 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018133.3 -1 validated p.D576N 1.000 174 0% 153 20.9% 2 0% benign(0.316) deleterious(0) deleterious(0.543) NULL MSL2 55167 genome.wustl.edu 37 3 135870446 135870446 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018133.3 -1 validated p.G426V 0.994 150 0% 90 23.3% 2 0% possibly_damaging(0.914) deleterious(0.01) deleterious(0.772) NULL MSL2 55167 genome.wustl.edu 37 3 135870847 135870847 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018133.3 -1 validated p.P292 0.736 169 0% 147 36.1% 6 0% - - - NULL STAG1 10274 genome.wustl.edu 37 3 136096576 136096576 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005862.2 -1 reviewed p.R766G 1.000 84 0% 81 27.2% 1 100% benign(0.096) deleterious(0.03) neutral(0.371) superfamily_ARM-type_fold STAG1 10274 genome.wustl.edu 37 3 136342016 136342016 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005862.2 -1 reviewed p.R35I 1.000 675 0% 660 28.5% 0 - possibly_damaging(0.66) deleterious(0.01) deleterious(0.639) NULL CLDN18 51208 genome.wustl.edu 37 3 137749826 137749826 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001002026.2 +1 validated p.S210Y 1.000 225 0% 214 29.9% 0 - probably_damaging(0.998) tolerated(0.18) deleterious(0.530) NULL DZIP1L 199221 genome.wustl.edu 37 3 137805849 137805849 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173543.2 -1 validated p.R339I 1.000 166 0% 148 35.1% 1 0% probably_damaging(0.996) tolerated(0.15) deleterious(0.703) NULL ARMC8 25852 genome.wustl.edu 37 3 137986045 137986045 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015396.3 +1 validated p.L436 0.998 32 0% 27 22.2% 1 0% - - - superfamily_ARM-type_fold PIK3CB 5291 genome.wustl.edu 37 3 138433507 138433507 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006219.1 -1 provisional p.V369I 0.965 406 0.2% 403 24.3% 0 - benign(0.08) tolerated(0.12) neutral(0.266) HMMPfam_PI3K_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB PIK3CB 5291 genome.wustl.edu 37 3 138453486 138453486 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006219.1 -1 provisional p.R321Q 0.998 225 0% 201 32.8% 0 - benign(0.003) tolerated(0.46) neutral(0.012) HMMSmart_PI3K_C2 PIK3CB 5291 genome.wustl.edu 37 3 138453578 138453578 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006219.1 -1 provisional p.K290N 1.000 259 0% 224 27.7% 0 - benign(0.268) tolerated(0.49) neutral(0.039) superfamily_SSF54236 RBP2 5948 genome.wustl.edu 37 3 139181123 139181123 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004164.2 -1 reviewed p.F28S 1.000 305 0% 270 23% 0 - possibly_damaging(0.656) deleterious(0.01) deleterious(0.637) HMMPfam_Lipocalin,superfamily_Lipocalins CLSTN2 64084 genome.wustl.edu 37 3 140265496 140265496 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022131.2 +1 validated p.S549 1.000 44 0% 61 11.5% 0 - - - - NULL RASA2 5922 genome.wustl.edu 37 3 141289819 141289819 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006506.2 +1 reviewed p.R310Q 1.000 104 0% 83 25.3% 0 - probably_damaging(0.956) deleterious(0.01) deleterious(0.805) HMMSmart_RasGAP GRK7 131890 genome.wustl.edu 37 3 141497669 141497669 + Silent SNP C C T rs141991963 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139209.2 +1 reviewed p.F181 0.936 52 0% 56 30.4% 0 - - - - superfamily_Kinase_like,superfamily_Regulat_G_prot_signal_superfam ATP1B3 483 genome.wustl.edu 37 3 141626044 141626044 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001679.2 +1 reviewed p.E92K 1.000 144 0% 178 23% 21 47.6% probably_damaging(0.968) tolerated(0.06) deleterious(0.732) HMMPfam_Na_K-ATPase XRN1 54464 genome.wustl.edu 37 3 142048297 142048297 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019001.3 -1 validated p.F1460L 1.000 93 0% 114 20.2% 3 33.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_dsRNA-binding domain-like XRN1 54464 genome.wustl.edu 37 3 142140349 142140349 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019001.3 -1 validated p.R335Q 0.995 53 0% 44 18.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ATR 545 genome.wustl.edu 37 3 142188939 142188939 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001184.3 -1 reviewed p.E2103A 1.000 81 0% 98 29.6% 2 100% benign(0.015) tolerated(0.3) neutral(0.029) superfamily_ARM repeat ATR 545 genome.wustl.edu 37 3 142259786 142259786 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001184.3 -1 reviewed p.G1181S 1.000 111 0% 151 27.8% 1 0% benign(0.018) tolerated(0.49) neutral(0.011) HMMPfam_UME,HMMSmart_SM00802,superfamily_ARM repeat PLS1 5357 genome.wustl.edu 37 3 142423412 142423412 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145319.1 +1 reviewed p.S538Y 0.942 134 0% 128 10.2% 1 0% benign(0.046) deleterious(0.01) neutral(0.408) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology TRPC1 7220 genome.wustl.edu 37 3 142511767 142511767 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003304.4 +1 validated p.L479 1.000 301 0% 261 24.1% 0 - - - - HMMPfam_Ion_trans TRPC1 7220 genome.wustl.edu 37 3 142522879 142522879 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003304.4 +1 validated p.I572 1.000 195 0% 162 16.7% 0 - - - - HMMPfam_Ion_trans U2SURP 23350 genome.wustl.edu 37 3 142773963 142773963 + Splice_Site SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080415.1 +1 provisional e27+2 1.000 31 0% 53 22.6% 0 - - - - - SLC9A9 285195 genome.wustl.edu 37 3 143271229 143271229 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173653.3 -1 reviewed p.S355L 0.000 98 0% 88 21.6% 0 - benign(0) tolerated(0.22) neutral(0.042) HMMPfam_Na_H_Exchanger PLOD2 5352 genome.wustl.edu 37 3 145839027 145839027 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000480704 -1 known p.S91P 1.000 348 0% 400 25.3% 6 16.6% unknown(0) - - NULL PLSCR4 57088 genome.wustl.edu 37 3 145912223 145912223 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020353.2 -1 validated p.R322I 0.939 124 0% 121 26.4% 2 0% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMPfam_Scramblase PLSCR2 57047 genome.wustl.edu 37 3 146159544 146159544 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020359.1 -1 provisional e6+1 0.000 100 0% 115 17.4% 0 - - - - - PLSCR2 57047 genome.wustl.edu 37 3 146173244 146173244 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020359.1 -1 provisional p.L35I 0.000 136 0% 97 37.1% 0 - benign(0.074) tolerated(0.3) neutral(0.034) HMMPfam_Scramblase CPA3 1359 genome.wustl.edu 37 3 148586781 148586781 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001870.2 +1 reviewed p.S75F 0.148 115 0% 116 23.3% 0 - benign(0.004) deleterious(0.04) neutral(0.349) HMMPfam_Propep_M14,superfamily_Protease propeptides/inhibitors HLTF 6596 genome.wustl.edu 37 3 148763993 148763993 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003071.3 -1 reviewed p.K649T 1.000 96 0% 87 21.8% 1 0% probably_damaging(0.998) tolerated(0.12) deleterious(0.735) HMMPfam_SNF2_N TMEM183B 653659 genome.wustl.edu 37 3 149700726 149700726 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001079809.1 -1 validated p.E124* 0.867 125 0% 185 28.1% 6 0% - - - NULL FAM194A 131831 genome.wustl.edu 37 3 150403619 150403619 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152394.3 -1 validated p.F231 0.064 217 0% 185 28.1% 0 - - - - NULL MED12L 116931 genome.wustl.edu 37 3 150873978 150873978 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_053002.4 +1 reviewed p.R196Q 1.000 100 0% 131 14.5% 0 - possibly_damaging(0.596) tolerated(0.24) neutral(0.243) NULL MED12L 116931 genome.wustl.edu 37 3 150906255 150906255 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_053002.4 +1 reviewed p.A581T 1.000 382 0% 273 19.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPR171 29909 genome.wustl.edu 37 3 150917066 150917066 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013308.3 -1 validated p.T36 0.595 259 0.4% 163 16.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 GPR87 53836 genome.wustl.edu 37 3 151011993 151011993 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023915.3 -1 validated p.S347 0.001 633 0% 485 25.6% 0 - - - - superfamily_Family A G protein-coupled receptor-like MED12L 116931 genome.wustl.edu 37 3 151075109 151075109 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_053002.4 +1 reviewed p.R889C 1.000 223 0% 147 10.9% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL MED12L 116931 genome.wustl.edu 37 3 151112620 151112620 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_053002.4 +1 reviewed p.L1894I 1.000 217 0% 208 32.7% 0 - benign(0.095) tolerated(0.2) neutral(0.056) NULL IGSF10 285313 genome.wustl.edu 37 3 151171203 151171203 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178822.4 -1 validated p.K228 0.003 501 0% 297 31.6% 0 - - - - HMMSmart_SM00082,superfamily_L domain-like P2RY1 5028 genome.wustl.edu 37 3 152554313 152554313 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002563.2 +1 reviewed p.D248Y 0.999 75 0% 81 33.3% 0 - probably_damaging(0.984) deleterious(0.03) deleterious(0.795) HMMPfam_7tm_1,superfamily_SSF81321 ARHGEF26 26084 genome.wustl.edu 37 3 153958181 153958181 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015595.3 +1 validated p.D705Y 1.000 86 0% 66 25.8% 1 100% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like DHX36 170506 genome.wustl.edu 37 3 154033949 154033949 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020865.2 -1 validated p.A83T 1.000 121 0% 106 22.6% 4 0% probably_damaging(0.973) tolerated(0.07) deleterious(0.734) NULL PLCH1 23007 genome.wustl.edu 37 3 155199551 155199551 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130960.1 -1 validated p.Q1430K 0.019 189 0% 125 31.2% 2 50% benign(0.014) tolerated(0.67) neutral(0.003) NULL PLCH1 23007 genome.wustl.edu 37 3 155199734 155199734 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130960.1 -1 validated p.L1369I 0.938 186 0% 99 24.2% 3 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL PLCH1 23007 genome.wustl.edu 37 3 155314139 155314139 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130960.1 -1 validated p.S24 0.968 264 0.4% 232 23.7% 0 - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like C3orf33 285315 genome.wustl.edu 37 3 155493538 155493538 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173657.1 -1 predicted p.E49* 1.000 188 0% 196 31.1% 1 0% - - - superfamily_Staphylococal_nuclease_OB-fold KCNAB1 7881 genome.wustl.edu 37 3 155861043 155861043 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003471.3 +1 reviewed p.L26I 0.177 147 0% 121 25.6% 0 - possibly_damaging(0.615) deleterious(0) deleterious(0.658) NULL CCNL1 57018 genome.wustl.edu 37 3 156870888 156870888 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020307.2 -1 validated p.I182 1.000 181 0% 183 25.1% 8 37.5% - - - HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like MFSD1 64747 genome.wustl.edu 37 3 158537471 158537471 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022736.2 +1 validated p.A229V 1.000 62 0% 75 29.3% 12 41.6% possibly_damaging(0.943) deleterious(0.01) deleterious(0.793) HMMPfam_MFS_1,superfamily_MFS general substrate transporter PPM1L 151742 genome.wustl.edu 37 3 160679599 160679599 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139245.2 +1 provisional p.E159* 1.000 193 0.5% 215 28.4% 1 0% - - - HMMSmart_SM00331,HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C SI 6476 genome.wustl.edu 37 3 164727117 164727117 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001041.3 -1 reviewed p.E1377* 0.985 193 0% 137 29.2% 0 - - - - HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases SI 6476 genome.wustl.edu 37 3 164739105 164739105 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001041.3 -1 reviewed p.S1056R 0.962 486 0% 437 16% 0 - probably_damaging(0.995) tolerated(0.07) deleterious(0.776) NULL SI 6476 genome.wustl.edu 37 3 164750411 164750411 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001041.3 -1 reviewed p.K879Q 0.902 192 0% 148 31.1% 0 - benign(0.429) tolerated(0.16) neutral(0.199) NULL SI 6476 genome.wustl.edu 37 3 164786524 164786524 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001041.3 -1 reviewed p.R157S 1.000 212 0% 145 26.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SLITRK3 22865 genome.wustl.edu 37 3 164906887 164906887 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014926.2 -1 validated p.E578K 1.000 138 0% 115 10.4% 0 - probably_damaging(0.988) tolerated(0.05) deleterious(0.783) HMMSmart_LRRCT,superfamily_SSF52058 BCHE 590 genome.wustl.edu 37 3 165548547 165548547 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000055.2 -1 reviewed p.S92Y 1.000 155 0% 129 27.9% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_COesterase,superfamily_SSF53474 WDR49 151790 genome.wustl.edu 37 3 167245803 167245803 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178824.3 -1 provisional p.E451D 0.942 199 0% 160 23.7% 0 - benign(0.006) tolerated(0.77) neutral(0.001) superfamily_WD40 repeat-like GOLIM4 27333 genome.wustl.edu 37 3 167742799 167742799 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014498.3 -1 reviewed p.E570* 1.000 419 0% 363 30.3% 5 0% - - - NULL GOLIM4 27333 genome.wustl.edu 37 3 167750470 167750470 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014498.3 -1 reviewed p.E338 0.999 238 0% 212 35.8% 18 83.3% - - - NULL LRRC34 151827 genome.wustl.edu 37 3 169524707 169524707 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153353.4 -1 validated p.L140F 0.002 161 0% 163 28.2% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMSmart_SM00368,superfamily_RNI-like SLC7A14 57709 genome.wustl.edu 37 3 170216490 170216490 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020949.2 -1 validated p.A242V 0.995 92 0% 110 31.8% 0 - benign(0) deleterious(0.05) neutral(0.345) HMMPfam_AA_permease SLC7A14 57709 genome.wustl.edu 37 3 170244714 170244714 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020949.2 -1 validated p.F4L 0.994 43 0% 40 40% 0 - benign(0) tolerated(1) - NULL TNIK 23043 genome.wustl.edu 37 3 170928937 170928937 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015028.2 -1 validated p.K92Q 1.000 157 0% 195 34.9% 0 - benign(0.064) deleterious(0.04) neutral(0.353) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PLD1 5337 genome.wustl.edu 37 3 171379852 171379852 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002662.3 -1 validated p.E780K 1.000 173 0% 107 19.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Phospholipase D/nuclease SPATA16 83893 genome.wustl.edu 37 3 172674574 172674574 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031955.5 -1 reviewed p.S325L 0.985 293 0% 243 23.9% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_TPR-like TBL1XR1 79718 genome.wustl.edu 37 3 176769436 176769436 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024665.4 -1 reviewed p.R95 0.970 85 0% 83 25.3% 2 0% - - - NULL TBL1XR1 79718 genome.wustl.edu 37 3 176771591 176771591 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024665.4 -1 reviewed p.Q58H 1.000 101 0% 96 29.2% 4 25% benign(0.004) tolerated(0.56) neutral(0.006) NULL PIK3CA 5290 genome.wustl.edu 37 3 178937046 178937046 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006218.2 +1 reviewed p.S576Y 1.000 74 0% 70 18.6% 0 - possibly_damaging(0.87) tolerated(0.08) deleterious(0.638) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold PIK3CA 5290 genome.wustl.edu 37 3 178952018 178952018 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006218.2 +1 reviewed p.T1025A 1.000 175 0% 224 20.5% 5 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_PI3Kc,superfamily_Kinase_like KCNMB3 27094 genome.wustl.edu 37 3 178962463 178962463 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014407.3 -1 reviewed p.S93 0.044 217 0.9% 126 28.6% 0 - - - - HMMPfam_CaKB MFN1 55669 genome.wustl.edu 37 3 179093043 179093043 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033540.2 +1 reviewed p.F337 1.000 57 0% 39 33.3% 6 16.6% - - - NULL ACTL6A 86 genome.wustl.edu 37 3 179294649 179294649 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004301.3 +1 reviewed p.R239I 1.000 247 0% 223 22.9% 25 52% benign(0.067) tolerated(0.13) neutral(0.257) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain MRPL47 57129 genome.wustl.edu 37 3 179320488 179320488 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020409.2 -1 reviewed p.E66* 1.000 170 0% 138 21% 9 11.1% - - - HMMPfam_MRP-L47 USP13 8975 genome.wustl.edu 37 3 179426675 179426675 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003940.2 +1 validated p.A245 0.001 70 0% 77 18.2% 5 0% - - - HMMPfam_zf-UBP,HMMSmart_ZnF_UBP TTC14 151613 genome.wustl.edu 37 3 180326509 180326509 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133462.3 +1 validated p.E437D 1.000 32 0% 22 18.2% 0 - unknown(0) tolerated(0.12) - NULL FXR1 8087 genome.wustl.edu 37 3 180666525 180666525 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005087.2 +1 reviewed p.A146T 1.000 157 0% 128 31.2% 5 20% benign(0.252) tolerated(0.29) neutral(0.055) NULL ATP11B 23200 genome.wustl.edu 37 3 182577031 182577031 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014616.1 +1 validated p.E362K 1.000 127 0% 101 27.7% 0 - possibly_damaging(0.718) deleterious(0) deleterious(0.705) NULL ATP11B 23200 genome.wustl.edu 37 3 182616414 182616414 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014616.1 +1 validated p.N1058D 1.000 209 0% 148 29.7% 1 0% benign(0) tolerated(0.94) - NULL MCF2L2 23101 genome.wustl.edu 37 3 182897926 182897926 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015078.2 -1 validated p.S1013N 0.000 166 0% 137 31.4% 0 - benign(0.17) tolerated(0.22) neutral(0.058) NULL MCF2L2 23101 genome.wustl.edu 37 3 182947467 182947467 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015078.2 -1 validated p.E678K 0.998 236 0% 258 12% 0 - possibly_damaging(0.598) tolerated(0.63) neutral(0.210) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) HTR3C 170572 genome.wustl.edu 37 3 183772516 183772516 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130770.2 +1 reviewed p.G25 0.000 106 0.9% 101 36.6% 0 - - - - NULL HTR3C 170572 genome.wustl.edu 37 3 183774718 183774718 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130770.2 +1 reviewed p.R149* 0.000 221 0% 306 34% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD HTR3E 285242 genome.wustl.edu 37 3 183822115 183822115 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000440596 +1 known p.S142F 0.025 33 0% 40 25% 0 - benign(0.29) deleterious(0.05) neutral(0.435) superfamily_Nicotinic receptor ligand binding domain-like EIF2B5 8893 genome.wustl.edu 37 3 183855715 183855715 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003907.2 +1 reviewed p.S179Y 1.000 69 0% 74 24.3% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) superfamily_SSF53448 ALG3 10195 genome.wustl.edu 37 3 183963388 183963388 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000411922 -1 known p.S71L 0.965 25 0% 52 19.2% 161 44.7% benign(0.113) tolerated(0.66) neutral(0.011) NULL ECE2 9718 genome.wustl.edu 37 3 183996047 183996047 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014693.3 +1 validated p.F350L 1.000 33 0% 54 13% 0 - benign(0.166) tolerated(1) neutral(0.015) "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" EIF4G1 1981 genome.wustl.edu 37 3 184038427 184038427 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182917.3 +1 reviewed p.R183* 1.000 55 0% 74 28.4% 7 14.2% - - - NULL CHRD 8646 genome.wustl.edu 37 3 184106720 184106720 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003741.2 +1 reviewed p.P917S 0.019 28 0% 51 31.4% 13 0% benign(0.001) tolerated(0.27) neutral(0.034) HMMPfam_VWC,HMMSmart_SM00214 VPS8 23355 genome.wustl.edu 37 3 184570321 184570321 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001009921.2 +1 validated p.D263N 1.000 166 0% 127 26.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_WD40_like C3orf70 285382 genome.wustl.edu 37 3 184800966 184800966 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001025266.1 -1 predicted p.A194 0.000 198 0% 130 32.3% 0 - - - - NULL SENP2 59343 genome.wustl.edu 37 3 185316754 185316754 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000439684 +1 known p.E56K 0.928 112 0% 129 17.1% 0 - unknown(0) - - NULL FETUB 26998 genome.wustl.edu 37 3 186364079 186364079 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014375.2 +1 reviewed p.E213* 0.945 328 0% 267 32.6% 0 - - - - HMMPfam_Cystatin,HMMSmart_SM00043,superfamily_Cystatin/monellin HRG 3273 genome.wustl.edu 37 3 186386734 186386734 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000412.2 +1 reviewed p.T65N 0.022 213 0% 242 20.7% 0 - probably_damaging(0.997) tolerated(0.09) deleterious(0.762) HMMPfam_Cystatin,HMMSmart_SM00043,superfamily_Cystatin/monellin HRG 3273 genome.wustl.edu 37 3 186389461 186389461 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000412.2 +1 reviewed p.F147L 0.937 176 0% 274 29.6% 0 - probably_damaging(0.965) tolerated(0.65) neutral(0.410) HMMSmart_SM00043 KNG1 3827 genome.wustl.edu 37 3 186449380 186449380 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001102416.2 +1 reviewed p.R240Q 0.000 43 0% 67 43.3% 0 - benign(0.013) tolerated(0.15) neutral(0.241) HMMSmart_SM00043,superfamily_Cystatin/monellin RFC4 5984 genome.wustl.edu 37 3 186510634 186510634 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002916.3 -1 reviewed p.S171 0.975 140 0.7% 179 31.3% 21 23.8% - - - HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 RTP4 64108 genome.wustl.edu 37 3 187088702 187088702 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022147.2 +1 validated p.Q94H 0.994 73 0% 84 32.1% 40 47.5% probably_damaging(0.957) tolerated(0.13) deleterious(0.653) NULL FGF12 2257 genome.wustl.edu 37 3 191861894 191861894 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021032.3 -1 reviewed p.S212 0.996 452 0% 339 18.3% 0 - - - - NULL OPA1 4976 genome.wustl.edu 37 3 193332670 193332670 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130837.2 +1 reviewed p.S64Y 1.000 154 0% 129 11.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL OPA1 4976 genome.wustl.edu 37 3 193332780 193332780 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130837.2 +1 reviewed p.R101C 1.000 124 0% 106 11.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL OPA1 4976 genome.wustl.edu 37 3 193354988 193354988 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130837.2 +1 reviewed p.S318F 1.000 82 0% 57 12.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GP5 2814 genome.wustl.edu 37 3 194118511 194118511 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004488.2 -1 validated p.T167 0.000 158 0% 147 25.9% 0 - - - - HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 ACAP2 23527 genome.wustl.edu 37 3 195027951 195027951 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012287.5 -1 validated e12+1 1.000 210 0% 199 36.2% 0 - - - - - ACAP2 23527 genome.wustl.edu 37 3 195047681 195047681 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012287.5 -1 validated p.R226Q 1.000 173 0% 164 28% 0 - benign(0.001) tolerated(1) - NULL APOD 347 genome.wustl.edu 37 3 195300747 195300747 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001647.3 -1 reviewed p.K73N 0.720 77 0% 106 26.4% 13 7.6% benign(0) tolerated(0.56) neutral(0.006) superfamily_Lipocalins,HMMPfam_Lipocalin_2 MUC4 4585 genome.wustl.edu 37 3 195498543 195498543 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018406.5 -1 reviewed p.R4280W 0.000 35 0% 69 36.2% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMSmart_SM00539 TFRC 7037 genome.wustl.edu 37 3 195792337 195792337 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001128148.1 -1 validated p.V392A 1.000 38 0% 56 33.9% 4 100% possibly_damaging(0.781) tolerated(0.14) deleterious(0.542) superfamily_Zn-dependent exopeptidases TCTEX1D2 255758 genome.wustl.edu 37 3 196022891 196022891 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152773.3 -1 validated p.D123Y 1.000 67 0% 81 21% 4 50% benign(0.205) deleterious(0.01) neutral(0.426) HMMPfam_Tctex-1 RNF168 165918 genome.wustl.edu 37 3 196202171 196202171 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152617.2 -1 provisional p.P231 0.944 63 0% 71 28.2% 3 33.3% - - - NULL LRRC33 375387 genome.wustl.edu 37 3 196381499 196381499 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198565.1 +1 provisional p.S30F 0.006 51 0% 39 30.8% 2 0% benign(0.139) tolerated(0.06) neutral(0.335) NULL LRRC33 375387 genome.wustl.edu 37 3 196387102 196387102 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198565.1 +1 provisional p.I196 0.152 18 0% 31 45.2% 3 0% - - - HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 SENP5 205564 genome.wustl.edu 37 3 196612424 196612424 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152699.4 +1 validated p.K124N 0.997 122 0% 142 29.6% 0 - possibly_damaging(0.886) deleterious(0) deleterious(0.791) NULL ENSG00000186777 0 genome.wustl.edu 37 4 265417 265417 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000341087 -1 known p.E87* 0.601 119 0% 126 27% 0 - benign(0.062) tolerated(0.27) neutral(0.038) superfamily_C2H2 and C2HC zinc fingers ZNF732 654254 genome.wustl.edu 37 4 266264 266264 + Nonsense_Mutation SNP C C A rs148975969 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001137608.1 -1 provisional p.E128* 0.028 88 0% 98 27.6% 0 - - - - NULL ZNF721 170960 genome.wustl.edu 37 4 435686 435686 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133474.2 -1 validated p.R857I 0.917 213 0% 215 26.5% 4 50% benign(0.025) tolerated(0.18) neutral(0.057) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF721 170960 genome.wustl.edu 37 4 435770 435770 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133474.2 -1 validated p.R829I 0.999 220 0.5% 228 27.6% 1 0% benign(0.058) tolerated(0.35) neutral(0.024) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF721 170960 genome.wustl.edu 37 4 437198 437198 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133474.2 -1 validated p.R353I 0.219 228 0% 244 26.6% 9 77.7% benign(0.16) tolerated(0.2) neutral(0.064) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF721 170960 genome.wustl.edu 37 4 437282 437282 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133474.2 -1 validated p.R325I 0.342 249 0% 287 29.3% 5 40% benign(0.032) tolerated(0.14) neutral(0.251) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PDE6B 5158 genome.wustl.edu 37 4 650045 650045 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000283.3 +1 reviewed p.I357 0.979 26 0% 24 29.2% 0 - - - - HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like RNF212 285498 genome.wustl.edu 37 4 1067393 1067393 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001131034.1 -1 validated p.R190* 1.000 50 0% 102 27.5% 20 0% - - - NULL KIAA1530 57654 genome.wustl.edu 37 4 1341896 1341896 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020894.2 +1 validated p.S6L 0.046 46 0% 58 24.1% 0 - probably_damaging(0.975) deleterious(0.03) deleterious(0.781) NULL LETM1 3954 genome.wustl.edu 37 4 1838249 1838249 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012318.2 -1 reviewed p.F215 0.980 45 0% 86 37.2% 16 43.7% - - - HMMPfam_LETM1 WHSC1 7468 genome.wustl.edu 37 4 1902586 1902586 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042424.2 +1 reviewed p.D69N 0.878 88 0% 112 33.9% 7 42.8% possibly_damaging(0.775) deleterious(0) deleterious(0.733) NULL WHSC1 7468 genome.wustl.edu 37 4 1936942 1936942 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042424.2 +1 reviewed p.D543N 0.998 147 0% 155 24.5% 6 50% benign(0.031) tolerated(0.31) neutral(0.029) NULL WHSC1 7468 genome.wustl.edu 37 4 1957836 1957836 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000514329 +1 known p.A258T 0.781 77 0% 72 13.9% 2 50% - - - HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT HAUS3 79441 genome.wustl.edu 37 4 2241823 2241823 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024511.5 -1 provisional p.S284L 0.047 56 0% 69 20.3% 0 - benign(0) tolerated(0.38) neutral(0.018) NULL FAM193A 8603 genome.wustl.edu 37 4 2692550 2692550 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003704.3 +1 validated p.L595V 1.000 176 0% 109 28.4% 0 - probably_damaging(0.971) deleterious(0.04) deleterious(0.762) NULL HTT 3064 genome.wustl.edu 37 4 3174089 3174089 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002111.6 +1 reviewed p.R1303* 0.989 139 0% 145 23.4% 2 0% - - - superfamily_ARM repeat HTT 3064 genome.wustl.edu 37 4 3235013 3235013 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002111.6 +1 reviewed p.D2797N 1.000 56 0% 43 34.9% 38 2.6% benign(0.095) tolerated(0.05) neutral(0.352) NULL RGS12 6002 genome.wustl.edu 37 4 3318204 3318204 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198229.2 +1 reviewed p.E103K 0.966 78 0% 91 31.9% 0 - benign(0.282) tolerated(0.28) neutral(0.118) superfamily_PDZ domain-like ENSG00000221301 0 genome.wustl.edu 37 4 4086175 4086175 + RNA SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000408374 +1 novel NULL 0.026 138 0% 172 33.7% 0 - - - - - OTOP1 133060 genome.wustl.edu 37 4 4207831 4207831 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_177998.1 -1 provisional p.K189N 1.000 59 0% 83 34.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF270 TMEM128 85013 genome.wustl.edu 37 4 4239657 4239657 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032927.2 -1 provisional p.N111S 1.000 172 0% 138 11.6% 31 12.9% probably_damaging(0.991) tolerated(0.15) deleterious(0.685) NULL ZBTB49 166793 genome.wustl.edu 37 4 4317658 4317658 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145291.3 +1 validated p.R528W 0.949 118 0% 84 26.2% 1 0% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers D4S234E 27065 genome.wustl.edu 37 4 4418991 4418991 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040101.1 +1 validated p.E129 1.000 118 0% 82 39% 27 55.5% - - - HMMPfam_Calcyon EVC 2121 genome.wustl.edu 37 4 5750014 5750014 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153717.2 +1 reviewed p.S360Y 0.339 65 0% 100 33% 0 - unknown(0) deleterious(0.02) - NULL KIAA0232 9778 genome.wustl.edu 37 4 6863430 6863430 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001100590.1 +1 validated p.L441V 0.242 161 0.6% 138 27.5% 0 - possibly_damaging(0.556) tolerated(0.14) neutral(0.439) NULL KIAA0232 9778 genome.wustl.edu 37 4 6865325 6865325 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001100590.1 +1 validated p.P1072 0.806 245 0% 307 24.4% 0 - - - - NULL ABLIM2 84448 genome.wustl.edu 37 4 8037948 8037948 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130083.1 -1 validated p.I325 0.997 18 0% 33 36.4% 3 0% - - - NULL SH3TC1 54436 genome.wustl.edu 37 4 8220028 8220028 + Missense_Mutation SNP C C T rs144885198 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000502669 +1 known p.S195L 0.000 20 0% 24 25% 3 0% possibly_damaging(0.873) deleterious(0) deleterious(0.784) NULL ENSG00000219492 0 genome.wustl.edu 37 4 9385958 9385958 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000508324 -1 known p.K229T 0.073 331 0% 389 17.2% 0 - possibly_damaging(0.797) deleterious(0.01) deleterious(0.705) superfamily_C2H2 and C2HC zinc fingers DRD5 1816 genome.wustl.edu 37 4 9784694 9784694 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000798.4 +1 reviewed p.F347 0.992 84 0% 104 24% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like WDR1 9948 genome.wustl.edu 37 4 10099374 10099374 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017491.3 -1 reviewed p.F173L 1.000 37 0% 33 24.2% 95 22.1% benign(0.011) tolerated(0.55) neutral(0.007) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ZNF518B 85460 genome.wustl.edu 37 4 10446096 10446096 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_053042.2 -1 validated p.K619N 0.001 240 0% 257 22.6% 0 - possibly_damaging(0.918) deleterious(0) deleterious(0.813) NULL ZNF518B 85460 genome.wustl.edu 37 4 10446695 10446695 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_053042.2 -1 validated p.S420R 0.000 185 0% 204 26% 0 - benign(0) tolerated(0.98) - NULL CLNK 116449 genome.wustl.edu 37 4 10599639 10599639 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052964.2 -1 validated p.D16N 0.259 33 0% 30 23.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LOC643446 643446 genome.wustl.edu 37 4 11373983 11373983 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001130637.2 +1 model p.R129C 0.888 99 0% 92 34.8% 45 0% - - - NULL BOD1L 259282 genome.wustl.edu 37 4 13603527 13603527 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_148894.2 -1 validated p.S1666Y 0.034 576 0.2% 489 19.8% 1 0% probably_damaging(0.979) deleterious(0) deleterious(0.867) superfamily_SSF81995 BOD1L 259282 genome.wustl.edu 37 4 13603610 13603610 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_148894.2 -1 validated p.I1638 0.000 376 0% 322 31.1% 3 0% - - - superfamily_SSF81995 CC2D2A 57545 genome.wustl.edu 37 4 15513020 15513020 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080522.2 +1 reviewed p.P231S 0.000 70 0% 94 34% 2 100% benign(0) tolerated(0.16) neutral(0.059) NULL CC2D2A 57545 genome.wustl.edu 37 4 15529085 15529085 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080522.2 +1 reviewed p.H389N 0.002 70 0% 45 20% 0 - benign(0.071) tolerated(0.5) neutral(0.015) NULL CC2D2A 57545 genome.wustl.edu 37 4 15554924 15554924 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080522.2 +1 reviewed p.R828W 0.004 158 0% 159 22.6% 0 - probably_damaging(0.982) deleterious(0.02) deleterious(0.809) NULL FBXL5 26234 genome.wustl.edu 37 4 15626978 15626978 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012161.2 -1 reviewed p.D583Y 1.000 90 0% 105 19% 11 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_RNI-like FBXL5 26234 genome.wustl.edu 37 4 15627285 15627285 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012161.2 -1 reviewed p.W480* 1.000 234 0% 197 29.9% 14 0% - - - superfamily_RNI-like TAPT1 202018 genome.wustl.edu 37 4 16168369 16168369 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153365.2 -1 reviewed p.S454L 0.981 105 0% 81 32.1% 9 33.3% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_DUF747 TAPT1 202018 genome.wustl.edu 37 4 16168396 16168396 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153365.2 -1 reviewed p.L445R 0.996 90 0% 77 36.4% 11 63.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF747 LDB2 9079 genome.wustl.edu 37 4 16760787 16760787 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001290.3 -1 validated p.R77* 1.000 197 0% 147 29.9% 3 0% - - - HMMPfam_LIM_bind CLRN2 645104 genome.wustl.edu 37 4 17528592 17528592 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001079827.2 +1 reviewed p.A196T 0.981 84 0% 104 26.9% 0 - possibly_damaging(0.796) tolerated(0.31) neutral(0.326) NULL DCAF16 54876 genome.wustl.edu 37 4 17805494 17805494 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017741.3 -1 provisional p.R91* 0.991 164 0% 226 31.4% 3 33.3% - - - NULL NCAPG 64151 genome.wustl.edu 37 4 17824682 17824682 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022346.3 +1 validated p.E399* 1.000 105 0% 98 28.6% 0 - - - - superfamily_ARM-type_fold SLIT2 9353 genome.wustl.edu 37 4 20570620 20570620 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004787.1 +1 provisional p.E1027D 1.000 186 0% 123 25.2% 0 - benign(0.066) tolerated(0.23) neutral(0.046) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,superfamily_EGF/Laminin KCNIP4 80333 genome.wustl.edu 37 4 20751288 20751288 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001035004.1 -1 reviewed p.S79L 1.000 98 0% 82 25.6% 0 - - - - NULL GPR125 166647 genome.wustl.edu 37 4 22394238 22394238 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145290.2 -1 validated p.Q853K 1.000 160 0.6% 102 23.5% 5 40% possibly_damaging(0.9) tolerated(0.38) neutral(0.374) HMMPfam_7tm_2 GPR125 166647 genome.wustl.edu 37 4 22394252 22394252 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145290.2 -1 validated p.R848Q 1.000 153 0% 102 26.5% 7 71.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_2 PPARGC1A 10891 genome.wustl.edu 37 4 23814698 23814698 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013261.3 -1 reviewed p.N615T 0.998 241 0% 219 29.2% 0 - unknown(0) tolerated(0.32) - NULL PPARGC1A 10891 genome.wustl.edu 37 4 23814749 23814749 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013261.3 -1 reviewed e9-1 1.000 153 0% 137 25.5% 0 - - - - - SEL1L3 23231 genome.wustl.edu 37 4 25769163 25769163 + Silent SNP G G A rs182680181 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015187.3 -1 validated p.I943 1.000 36 0% 33 39.4% 20 35% - - - superfamily_HCP-like RBPJ 3516 genome.wustl.edu 37 4 26432339 26432339 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005349.2 +1 validated p.V405I 1.000 261 0% 271 23.6% 58 24.1% possibly_damaging(0.46) tolerated(0.14) neutral(0.400) HMMPfam_TIG,superfamily_E set domains TBC1D19 55296 genome.wustl.edu 37 4 26585870 26585870 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018317.2 +1 validated p.L19F 1.000 20 0% 38 26.3% 0 - probably_damaging(1) tolerated(0.41) deleterious(0.515) NULL STIM2 57620 genome.wustl.edu 37 4 26959246 26959246 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020860.3 +1 reviewed p.D186Y 1.000 311 0% 259 15.1% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL ARAP2 116984 genome.wustl.edu 37 4 36160368 36160368 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015230.2 -1 reviewed p.E912D 1.000 86 0% 71 36.6% 0 - benign(0.07) tolerated(0.33) neutral(0.029) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARAP2 116984 genome.wustl.edu 37 4 36161024 36161024 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015230.2 -1 reviewed p.T849I 1.000 178 0% 208 31.2% 0 - possibly_damaging(0.868) deleterious(0) deleterious(0.782) NULL ARAP2 116984 genome.wustl.edu 37 4 36189105 36189105 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015230.2 -1 reviewed p.Q549P 1.000 201 0% 120 10.8% 0 - benign(0.003) tolerated(0.08) neutral(0.300) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARAP2 116984 genome.wustl.edu 37 4 36214942 36214942 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015230.2 -1 reviewed e3-1 1.000 154 0% 128 32.8% 0 - - - - - ARAP2 116984 genome.wustl.edu 37 4 36230736 36230736 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015230.2 -1 reviewed p.K125Q 0.000 216 0% 175 11.4% 0 - benign(0.039) deleterious(0.04) neutral(0.351) NULL PGM2 55276 genome.wustl.edu 37 4 37841756 37841756 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018290.3 +1 validated p.E198D 0.501 246 0% 261 25.3% 2 100% benign(0.001) tolerated(0.4) neutral(0.016) HMMPfam_PGM_PMM_I,superfamily_A-D-PHexomutase_a/b/a-I/II/III TBC1D1 23216 genome.wustl.edu 37 4 38023274 38023274 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015173.2 +1 validated p.A382V 0.003 14 0% 15 33.3% 3 33.3% benign(0) tolerated(0.43) neutral(0.013) HMMSmart_SM00462 RFC1 5981 genome.wustl.edu 37 4 39310597 39310597 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002913.3 -1 reviewed p.R515I 1.000 389 0% 337 34.4% 1 100% benign(0.132) deleterious(0.05) neutral(0.356) NULL KLB 152831 genome.wustl.edu 37 4 39409009 39409009 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175737.3 +1 validated p.S147Y 0.994 258 0% 282 26.6% 0 - possibly_damaging(0.922) deleterious(0.03) deleterious(0.736) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat UBE2K 3093 genome.wustl.edu 37 4 39747420 39747420 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005339.4 +1 reviewed p.N69T 1.000 116 0% 205 18% 17 17.6% benign(0.194) tolerated(0.48) neutral(0.028) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like NSUN7 79730 genome.wustl.edu 37 4 40792738 40792738 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024677.4 +1 validated p.E386* 1.000 195 0% 156 27.6% 1 0% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases APBB2 323 genome.wustl.edu 37 4 40818114 40818114 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173075.4 -1 reviewed p.P736S 1.000 377 0% 352 27% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LIMCH1 22998 genome.wustl.edu 37 4 41648264 41648264 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014988.2 +1 validated p.S408I 1.000 286 0% 233 25.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LIMCH1 22998 genome.wustl.edu 37 4 41668605 41668605 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014988.2 +1 validated p.E722K 0.996 186 0% 159 30.8% 0 - benign(0) tolerated(0.18) neutral(0.056) NULL LIMCH1 22998 genome.wustl.edu 37 4 41694357 41694357 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014988.2 +1 validated p.R1061Q 1.000 114 0% 99 19.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LIM,HMMSmart_SM00132 PHOX2B 8929 genome.wustl.edu 37 4 41749465 41749465 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000510424 -1 known p.S50* 1.000 22 0% 17 35.3% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like PHOX2B 8929 genome.wustl.edu 37 4 41750502 41750502 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003924.3 -1 reviewed p.F42L 1.000 31 0% 26 19.2% 0 - possibly_damaging(0.891) tolerated(0.09) deleterious(0.647) NULL TMEM33 55161 genome.wustl.edu 37 4 41945832 41945832 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018126.2 +1 validated e4+1 1.000 120 0% 122 27% 0 - - - - - ATP8A1 10396 genome.wustl.edu 37 4 42445623 42445623 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006095.2 -1 reviewed p.L1028M 0.997 150 0% 125 28.8% 0 - possibly_damaging(0.609) deleterious(0.01) deleterious(0.617) NULL GABRA2 2555 genome.wustl.edu 37 4 46305504 46305504 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000807.2 -1 reviewed p.E277* 1.000 216 0% 137 25.5% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GABRA2 2555 genome.wustl.edu 37 4 46314682 46314682 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000807.2 -1 reviewed p.K103Q 1.000 175 0% 130 34.6% 0 - possibly_damaging(0.8) tolerated(0.08) deleterious(0.601) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GABRA4 2557 genome.wustl.edu 37 4 46930732 46930732 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000809.2 -1 reviewed p.A392V 0.214 149 0% 136 16.9% 0 - benign(0) deleterious(0.03) neutral(0.364) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRA4 2557 genome.wustl.edu 37 4 46967017 46967017 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000809.2 -1 reviewed p.Q368H 0.476 300 0% 347 32.3% 0 - possibly_damaging(0.516) tolerated(0.12) neutral(0.434) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRA4 2557 genome.wustl.edu 37 4 46973167 46973167 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000809.2 -1 reviewed p.M269I 1.000 146 0% 154 28.6% 0 - possibly_damaging(0.756) deleterious(0.01) deleterious(0.685) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRB1 2560 genome.wustl.edu 37 4 47034490 47034490 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000812.3 +1 reviewed p.E77K 1.000 45 0% 30 16.7% 0 - benign(0.245) deleterious(0) deleterious(0.470) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRB1 2560 genome.wustl.edu 37 4 47405605 47405605 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000812.3 +1 reviewed p.R238C 0.998 169 0% 192 23.4% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD ATP10D 57205 genome.wustl.edu 37 4 47578822 47578822 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020453.3 +1 validated p.F1133L 1.000 789 0% 734 22.2% 0 - possibly_damaging(0.854) tolerated(0.69) neutral(0.331) NULL ATP10D 57205 genome.wustl.edu 37 4 47593265 47593265 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020453.3 +1 validated p.F1383C 0.005 381 0% 283 34.6% 0 - benign(0.075) deleterious(0.04) neutral(0.354) NULL CORIN 10699 genome.wustl.edu 37 4 47765475 47765475 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006587.2 -1 reviewed p.R180C 1.000 81 0% 74 43.2% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Frizzled cysteine-rich domain,HMMPfam_Fz,HMMSmart_SM00063 NFXL1 152518 genome.wustl.edu 37 4 47907339 47907339 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152995.4 -1 validated p.R144Q 1.000 169 0% 121 26.4% 2 100% benign(0.328) tolerated(0.08) neutral(0.403) NULL CNGA1 1259 genome.wustl.edu 37 4 47938564 47938564 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142564.1 -1 reviewed p.E718 0.965 417 0% 377 29.2% 0 - - - - NULL CNGA1 1259 genome.wustl.edu 37 4 47942804 47942804 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142564.1 -1 reviewed p.D283N 1.000 143 0% 137 28.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TXK 7294 genome.wustl.edu 37 4 48114498 48114498 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003328.2 -1 validated p.R69Q 0.923 300 0% 196 20.4% 0 - possibly_damaging(0.95) tolerated(0.35) neutral(0.414) superfamily_SH3 FRYL 285527 genome.wustl.edu 37 4 48512934 48512934 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015030.1 -1 validated p.R2738H 1.000 196 0% 125 33.6% 3 0% probably_damaging(0.997) tolerated(0.14) deleterious(0.716) superfamily_ARM repeat FRYL 285527 genome.wustl.edu 37 4 48542543 48542543 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015030.1 -1 validated p.R2041Q 1.000 214 0% 200 21.5% 1 0% probably_damaging(0.996) tolerated(0.06) deleterious(0.784) superfamily_ARM repeat FRYL 285527 genome.wustl.edu 37 4 48566004 48566004 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015030.1 -1 validated p.A1186V 1.000 119 0% 137 28.5% 1 100% benign(0.062) tolerated(0.09) neutral(0.300) NULL FRYL 285527 genome.wustl.edu 37 4 48566987 48566987 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015030.1 -1 validated p.K1135T 1.000 300 0% 210 28.1% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL FRYL 285527 genome.wustl.edu 37 4 48584583 48584583 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015030.1 -1 validated p.K639N 1.000 144 0% 118 28% 0 - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) superfamily_ARM repeat FRYL 285527 genome.wustl.edu 37 4 48621365 48621365 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015030.1 -1 validated p.D113Y 1.000 189 0% 142 23.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL OCIAD2 132299 genome.wustl.edu 37 4 48901864 48901864 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001014446.1 -1 validated p.E49* 1.000 251 0% 179 18.4% 114 4.3% - - - HMMPfam_OCIA SGCB 6443 genome.wustl.edu 37 4 52895024 52895024 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000232.4 -1 reviewed p.D165Y 1.000 201 0% 153 32% 10 30% probably_damaging(0.984) tolerated(0.07) deleterious(0.750) HMMPfam_Sarcoglycan_1 KIT 3815 genome.wustl.edu 37 4 55599241 55599241 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000222.2 +1 reviewed p.I789 1.000 196 0% 176 34.1% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like KIT 3815 genome.wustl.edu 37 4 55604658 55604658 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000222.2 +1 reviewed p.R956W 0.999 242 0% 216 33.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KDR 3791 genome.wustl.edu 37 4 55953916 55953916 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002253.2 -1 reviewed p.D1174Y 1.000 181 0% 149 20.1% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KDR 3791 genome.wustl.edu 37 4 55976857 55976857 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002253.2 -1 reviewed p.A352V 1.000 202 0% 272 31.6% 0 - benign(0) tolerated(1) - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 NMU 10874 genome.wustl.edu 37 4 56473498 56473498 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006681.2 -1 validated p.S109 0.736 58 0% 54 29.6% 0 - - - - NULL EXOC1 55763 genome.wustl.edu 37 4 56730491 56730491 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001024924.1 +1 reviewed p.L118F 1.000 75 0% 53 37.7% 2 0% probably_damaging(0.982) tolerated(0.13) deleterious(0.679) NULL EXOC1 55763 genome.wustl.edu 37 4 56759755 56759755 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001024924.1 +1 reviewed p.R588C 1.000 169 0% 101 24.8% 3 33.3% possibly_damaging(0.847) tolerated(0.06) deleterious(0.647) HMMPfam_Sec3 CEP135 9662 genome.wustl.edu 37 4 56819387 56819387 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025009.3 +1 validated p.E84* 1.000 117 0% 77 28.6% 1 100% - - - NULL CEP135 9662 genome.wustl.edu 37 4 56820394 56820394 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025009.3 +1 validated p.S106* 0.000 106 0% 76 34.2% 1 0% - - - NULL PPAT 5471 genome.wustl.edu 37 4 57267648 57267648 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002703.3 -1 reviewed e7-1 1.000 60 0% 54 20.4% 0 - - - - - PPAT 5471 genome.wustl.edu 37 4 57269285 57269285 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002703.3 -1 reviewed p.I194M 1.000 111 0% 103 31.1% 1 100% possibly_damaging(0.844) deleterious(0.05) deleterious(0.669) HMMPfam_GATase_2,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) REST 5978 genome.wustl.edu 37 4 57796544 57796544 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005612.3 +1 reviewed p.G507E 0.158 153 0% 108 25.9% 0 - probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL POLR2B 5431 genome.wustl.edu 37 4 57887151 57887151 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000938.1 +1 reviewed p.G804S 1.000 202 0% 151 27.2% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNA_pol_Rpb2_6,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase POLR2B 5431 genome.wustl.edu 37 4 57888376 57888376 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000938.1 +1 reviewed p.E827* 1.000 205 0% 135 28.1% 12 8.3% - - - HMMPfam_RNA_pol_Rpb2_6,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase POLR2B 5431 genome.wustl.edu 37 4 57891056 57891056 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000938.1 +1 reviewed p.S990L 0.997 385 0.5% 300 23% 49 61.2% benign(0.269) deleterious(0) deleterious(0.473) HMMPfam_RNA_pol_Rpb2_6,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase EPHA5 2044 genome.wustl.edu 37 4 66356200 66356200 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004439.5 -1 reviewed p.A433T 1.000 111 0% 107 26.2% 0 - possibly_damaging(0.866) tolerated(0.08) deleterious(0.635) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CENPC1 1060 genome.wustl.edu 37 4 68374763 68374763 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001812.2 -1 reviewed p.R558Q 0.001 172 0% 172 26.2% 1 0% benign(0) tolerated(0.44) neutral(0.013) NULL STAP1 26228 genome.wustl.edu 37 4 68441174 68441174 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012108.2 +1 reviewed p.A88 1.000 160 0% 135 22.2% 0 - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like TMPRSS11D 9407 genome.wustl.edu 37 4 68703964 68703964 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000514868 -1 known p.E5* 0.887 131 0% 124 35.5% 0 - probably_damaging(0.99) tolerated(0.23) deleterious(0.483) NULL TMPRSS11A 339967 genome.wustl.edu 37 4 68784873 68784873 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182606.3 -1 validated p.R260I 0.958 187 0% 154 34.4% 0 - possibly_damaging(0.888) tolerated(0.08) deleterious(0.647) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases TMPRSS11A 339967 genome.wustl.edu 37 4 68810239 68810239 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182606.3 -1 validated p.L84V 0.390 222 0% 259 25.5% 0 - benign(0.208) tolerated(0.23) neutral(0.061) HMMPfam_SEA,superfamily_SEA domain TMPRSS11B 132724 genome.wustl.edu 37 4 69093698 69093698 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182502.3 -1 validated p.K394N 0.028 265 0% 180 33.3% 0 - possibly_damaging(0.846) tolerated(0.1) deleterious(0.611) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases YTHDC1 91746 genome.wustl.edu 37 4 69185904 69185904 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001031732.2 -1 validated p.D541Y 1.000 220 0% 120 27.5% 19 0% unknown(0) deleterious(0) - NULL YTHDC1 91746 genome.wustl.edu 37 4 69203402 69203402 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001031732.2 -1 validated p.R116H 1.000 96 0% 90 35.6% 5 60% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL UGT2B15 7366 genome.wustl.edu 37 4 69512837 69512837 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001076.2 -1 validated p.K526N 0.585 584 0% 554 31.4% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_UDPGT UGT2B10 7365 genome.wustl.edu 37 4 69693266 69693266 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001075.4 +1 validated p.S436L 0.930 360 0% 343 24.2% 0 - benign(0.006) tolerated(0.12) neutral(0.261) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2A3 79799 genome.wustl.edu 37 4 69795785 69795785 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024743.3 -1 validated p.S444P 0.981 216 0% 242 30.6% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B7 7364 genome.wustl.edu 37 4 69962930 69962930 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001074.2 +1 validated p.K231T 0.001 223 0% 197 31% 0 - benign(0.001) tolerated(0.48) neutral(0.011) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2A2 574537 genome.wustl.edu 37 4 70505195 70505195 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105677.1 -1 inferred p.R47I 1.000 490 0% 379 31.1% 0 - probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase SULT1B1 27284 genome.wustl.edu 37 4 70620490 70620490 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014465.3 -1 reviewed p.D59Y 0.708 248 0% 257 35% 0 - benign(0.11) deleterious(0.05) neutral(0.354) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 SULT1E1 6783 genome.wustl.edu 37 4 70721060 70721060 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005420.2 -1 reviewed p.R77Q 0.116 83 0% 57 21.1% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases C4orf40 401137 genome.wustl.edu 37 4 71024129 71024129 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_214711.3 +1 validated p.R54C 0.001 371 0% 310 33.5% 0 - possibly_damaging(0.522) deleterious(0) deleterious(0.621) NULL SMR3A 26952 genome.wustl.edu 37 4 71232443 71232443 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012390.3 +1 validated p.G46E 0.000 348 0% 552 35.3% 0 - unknown(0) tolerated(0.46) - NULL AMBN 258 genome.wustl.edu 37 4 71462718 71462718 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016519.4 +1 reviewed p.F29L 0.454 125 0% 78 34.6% 0 - benign(0) tolerated(0.56) neutral(0.006) HMMPfam_Amelin,HMMSmart_SM00817 AMBN 258 genome.wustl.edu 37 4 71465346 71465346 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016519.4 +1 reviewed p.E93* 0.990 139 0% 117 30.8% 0 - - - - HMMPfam_Amelin,HMMSmart_SM00817 RUFY3 22902 genome.wustl.edu 37 4 71628369 71628369 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037442.2 +1 validated p.F104L 1.000 311 0% 355 25.1% 1 0% possibly_damaging(0.95) tolerated(0.24) neutral(0.431) HMMPfam_RUN RUFY3 22902 genome.wustl.edu 37 4 71634261 71634261 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037442.2 +1 validated p.F193L 1.000 236 0% 235 31.1% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_RUN,HMMSmart_SM00593 RUFY3 22902 genome.wustl.edu 37 4 71655242 71655242 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037442.2 +1 validated p.E424* 1.000 273 0% 270 21.5% 6 0% - - - NULL GC 2638 genome.wustl.edu 37 4 72635099 72635099 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000583.2 -1 reviewed p.N26T 0.993 73 0% 46 32.6% 0 - benign(0) deleterious(0.03) neutral(0.364) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 ADAMTS3 9508 genome.wustl.edu 37 4 73148951 73148951 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014243.1 -1 reviewed p.D1174Y 0.001 235 0% 167 25.1% 0 - benign(0.163) deleterious(0) neutral(0.459) NULL ANKRD17 26057 genome.wustl.edu 37 4 73959869 73959869 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032217.3 -1 reviewed p.R1752W 1.000 278 0.4% 264 31.1% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) ANKRD17 26057 genome.wustl.edu 37 4 73963913 73963913 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032217.3 -1 reviewed p.R1633H 0.785 437 0% 491 20.4% 12 25% benign(0.01) tolerated(0.06) neutral(0.323) NULL ANKRD17 26057 genome.wustl.edu 37 4 74005272 74005272 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032217.3 -1 reviewed p.D1021Y 1.000 120 0% 80 22.5% 6 66.6% probably_damaging(0.992) deleterious(0) deleterious(0.892) superfamily_Ankyrin repeat ANKRD17 26057 genome.wustl.edu 37 4 74005649 74005649 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032217.3 -1 reviewed p.R895I 1.000 331 0% 244 26.6% 2 0% possibly_damaging(0.925) tolerated(0.07) deleterious(0.693) superfamily_Ankyrin repeat AFP 174 genome.wustl.edu 37 4 74309145 74309145 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134.1 +1 reviewed p.R233* 0.003 194 0% 137 20.4% 0 - - - - superfamily_Serum_albumin,HMMPfam_Serum_albumin,HMMSmart_ALBUMIN AFM 173 genome.wustl.edu 37 4 74353475 74353475 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001133.2 +1 reviewed p.S217Y 0.995 84 0% 94 19.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Serum albumin-like,HMMSmart_SM00103 AFM 173 genome.wustl.edu 37 4 74357800 74357800 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001133.2 +1 reviewed p.A352V 0.650 197 0% 140 25% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 MTHFD2L 441024 genome.wustl.edu 37 4 75040295 75040295 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001144978.1 +1 provisional p.E72 0.151 126 0% 123 30.1% 1 0% - - - HMMPfam_THF_DHG_CYH,superfamily_Aminoacid dehydrogenase-like N-terminal domain EPGN 255324 genome.wustl.edu 37 4 75178800 75178800 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013442.1 +1 provisional p.S98Y 1.000 185 0% 111 32.4% 0 - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) NULL PARM1 25849 genome.wustl.edu 37 4 75937994 75937994 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015393.2 +1 validated p.A135T 0.000 631 0% 703 30.7% 9 22.2% benign(0.039) tolerated(0.21) neutral(0.046) NULL CDKL2 8999 genome.wustl.edu 37 4 76529044 76529044 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003948.3 -1 reviewed p.R251I 1.000 199 0% 156 25% 0 - possibly_damaging(0.662) deleterious(0.02) deleterious(0.617) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase G3BP2 9908 genome.wustl.edu 37 4 76571617 76571617 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012297.4 -1 validated p.R361C 1.000 599 0% 507 26.6% 7 14.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD PPEF2 5470 genome.wustl.edu 37 4 76809437 76809437 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006239.2 -1 reviewed p.K154N 1.000 138 0% 152 24.3% 0 - benign(0.052) tolerated(0.11) neutral(0.275) HMMSmart_SM00156,HMMPfam_PPP5,superfamily_Metallo-dependent phosphatases SCARB2 950 genome.wustl.edu 37 4 77116937 77116937 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005506.2 -1 reviewed p.F66L 1.000 190 0% 233 34.8% 6 33.3% benign(0.115) tolerated(0.08) neutral(0.309) HMMPfam_CD36 CCDC158 339965 genome.wustl.edu 37 4 77303842 77303842 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042784.1 -1 validated p.E279K 0.967 192 0% 217 22.1% 0 - probably_damaging(0.981) tolerated(0.24) neutral(0.463) NULL CXCL13 10563 genome.wustl.edu 37 4 78527033 78527033 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006419.2 +1 validated p.S5L 0.000 161 0% 124 13.7% 78 0% benign(0) tolerated(0.19) neutral(0.050) NULL MRPL1 65008 genome.wustl.edu 37 4 78806464 78806464 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020236.3 +1 reviewed p.E153K 0.986 183 0% 187 20.9% 19 26.3% benign(0.188) deleterious(0.04) neutral(0.366) HMMPfam_Ribosomal_L1,superfamily_Ribosomal protein L1 BMP2K 55589 genome.wustl.edu 37 4 79780792 79780792 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198892.1 +1 reviewed p.Y313F 1.000 120 0% 103 38.8% 2 0% benign(0.003) tolerated(0.63) neutral(0.004) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) BMP2K 55589 genome.wustl.edu 37 4 79831831 79831831 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000502613 +1 known p.E403* 0.174 194 0% 163 26.4% 0 - unknown(0) deleterious(0) - NULL GK2 2712 genome.wustl.edu 37 4 80328736 80328736 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033214.2 -1 validated p.L207I 1.000 377 0% 322 30.7% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_FGGY_N,superfamily_SSF53067 ANTXR2 118429 genome.wustl.edu 37 4 80929758 80929758 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145794.1 -1 reviewed p.A320T 0.826 160 0% 168 29.8% 5 20% possibly_damaging(0.659) tolerated(0.17) neutral(0.291) NULL FGF5 2250 genome.wustl.edu 37 4 81196071 81196071 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004464.3 +1 reviewed p.E122* 1.000 61 0% 66 31.8% 0 - - - - HMMPfam_FGF,HMMSmart_SM00442,superfamily_Cytokine PRKG2 5593 genome.wustl.edu 37 4 82056347 82056347 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006259.1 -1 provisional p.E580* 1.000 317 0% 209 31.1% 0 - - - - HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase PRKG2 5593 genome.wustl.edu 37 4 82096015 82096015 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006259.1 -1 provisional p.R187I 0.998 343 0% 292 31.2% 0 - benign(0.055) tolerated(0.44) neutral(0.016) HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding PRKG2 5593 genome.wustl.edu 37 4 82126100 82126100 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006259.1 -1 provisional p.E34D 0.993 84 0% 85 17.6% 0 - benign(0.183) deleterious(0.01) neutral(0.423) NULL HNRNPD 3184 genome.wustl.edu 37 4 83278493 83278493 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000514671 -1 known p.E146* 1.000 108 0% 95 25.3% 209 30.1% benign(0.01) tolerated(0.45) neutral(0.013) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD THAP9 79725 genome.wustl.edu 37 4 83838147 83838147 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024672.4 +1 validated p.S261Y 0.998 317 0% 302 26.8% 2 50% probably_damaging(0.983) deleterious(0.02) deleterious(0.812) NULL THAP9 79725 genome.wustl.edu 37 4 83838633 83838633 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024672.4 +1 validated p.R423I 0.992 221 0% 218 25.7% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL THAP9 79725 genome.wustl.edu 37 4 83839768 83839768 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024672.4 +1 validated p.Q801H 1.000 168 0% 123 29.3% 0 - probably_damaging(0.983) tolerated(0.1) deleterious(0.716) NULL LIN54 132660 genome.wustl.edu 37 4 83857202 83857202 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_194282.2 -1 validated p.R593* 1.000 223 0% 174 25.9% 1 0% - - - NULL HELQ 113510 genome.wustl.edu 37 4 84342766 84342766 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133636.2 -1 validated p.L967I 0.993 70 0% 57 29.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL HELQ 113510 genome.wustl.edu 37 4 84348753 84348753 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133636.2 -1 validated p.S880* 0.387 176 0% 155 27.7% 1 0% - - - NULL AGPAT9 84803 genome.wustl.edu 37 4 84465702 84465702 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032717.3 +1 validated p.R52Q 0.995 318 0% 325 22.8% 0 - benign(0.131) tolerated(0.19) neutral(0.060) NULL WDFY3 23001 genome.wustl.edu 37 4 85663004 85663004 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014991.4 -1 reviewed p.F2048L 1.000 142 0% 85 30.6% 0 - benign(0.007) tolerated(1) - NULL WDFY3 23001 genome.wustl.edu 37 4 85715751 85715751 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014991.4 -1 reviewed p.Y1136 0.838 422 0% 319 25.1% 0 - - - - NULL WDFY3 23001 genome.wustl.edu 37 4 85731460 85731460 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014991.4 -1 reviewed p.R642I 1.000 89 0% 90 26.7% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat ARHGAP24 83478 genome.wustl.edu 37 4 86643069 86643069 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001025616.2 +1 validated p.S71Y 0.015 254 0% 167 10.8% 0 - benign(0.045) deleterious(0.04) neutral(0.351) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARHGAP24 83478 genome.wustl.edu 37 4 86898726 86898726 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001025616.2 +1 validated p.F270L 1.000 112 0% 118 38.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP ARHGAP24 83478 genome.wustl.edu 37 4 86915860 86915860 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001025616.2 +1 validated p.K351N 1.000 511 0% 342 23.4% 1 0% possibly_damaging(0.942) tolerated(0.08) deleterious(0.687) NULL PTPN13 5783 genome.wustl.edu 37 4 87671636 87671636 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080685.2 +1 reviewed p.F888 1.000 276 0% 284 28.2% 0 - - - - superfamily_SSF50729 PTPN13 5783 genome.wustl.edu 37 4 87684044 87684044 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080685.2 +1 reviewed p.R1240W 0.985 131 0% 134 26.9% 0 - benign(0.051) deleterious(0.01) neutral(0.409) NULL PTPN13 5783 genome.wustl.edu 37 4 87706488 87706488 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080685.2 +1 reviewed p.E2080K 0.160 52 0% 40 37.5% 1 0% benign(0.03) tolerated(0.89) neutral(0.002) NULL C4orf36 132989 genome.wustl.edu 37 4 87812654 87812654 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144645.3 -1 validated p.R7I 0.921 225 0% 200 20.5% 4 0% benign(0.418) deleterious(0) deleterious(0.580) NULL KLHL8 57563 genome.wustl.edu 37 4 88097911 88097911 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020803.3 -1 validated p.K402N 1.000 327 0% 260 18.1% 4 0% probably_damaging(0.982) tolerated(0.4) neutral(0.443) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain HSD17B13 345275 genome.wustl.edu 37 4 88236730 88236730 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178135.3 -1 validated p.S158P 0.008 70 0% 58 36.2% 1 0% possibly_damaging(0.757) tolerated(0.07) deleterious(0.599) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains SPARCL1 8404 genome.wustl.edu 37 4 88415107 88415107 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001128310.1 -1 validated p.S282L 0.056 767 0% 638 20.7% 51 0% probably_damaging(0.96) deleterious(0) deleterious(0.848) NULL DSPP 1834 genome.wustl.edu 37 4 88534411 88534411 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014208.3 +1 reviewed p.R358I 0.001 194 0% 166 22.9% 0 - benign(0.04) - - NULL DMP1 1758 genome.wustl.edu 37 4 88583555 88583555 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004407.3 +1 reviewed p.E209K 0.557 122 0% 97 19.6% 0 - possibly_damaging(0.478) deleterious(0.01) deleterious(0.564) HMMPfam_DMP1 IBSP 3381 genome.wustl.edu 37 4 88732782 88732782 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004967.3 +1 reviewed p.S225L 0.000 162 0% 181 32% 6 0% benign(0.318) tolerated(0.15) neutral(0.341) HMMPfam_BSP_II MEPE 56955 genome.wustl.edu 37 4 88759787 88759787 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020203.3 +1 validated p.F20V 0.998 231 0% 212 28.3% 0 - benign(0.053) tolerated(0.07) neutral(0.323) NULL PKD2 5311 genome.wustl.edu 37 4 88986978 88986978 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000297.2 +1 reviewed p.E769* 1.000 203 0% 188 30.9% 5 40% - - - superfamily_SSF47473 ABCG2 9429 genome.wustl.edu 37 4 89028400 89028400 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004827.2 -1 reviewed p.L405M 0.609 91 0% 87 24.1% 0 - benign(0.057) tolerated(0.63) neutral(0.007) HMMPfam_ABC2_membrane ABCG2 9429 genome.wustl.edu 37 4 89052326 89052326 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004827.2 -1 reviewed p.L140V 0.269 364 0% 382 18.3% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases HERC6 55008 genome.wustl.edu 37 4 89352321 89352321 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017912.3 +1 validated p.F705C 1.000 205 0% 181 29.3% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HERC6 55008 genome.wustl.edu 37 4 89361066 89361066 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017912.3 +1 validated p.V866I 0.981 66 0% 73 34.2% 0 - benign(0.001) tolerated(0.55) neutral(0.007) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HERC3 8916 genome.wustl.edu 37 4 89588600 89588600 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014606.1 +1 provisional p.E468D 1.000 104 0% 87 23% 1 0% benign(0.001) tolerated(1) - NULL HERC3 8916 genome.wustl.edu 37 4 89601364 89601364 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014606.1 +1 provisional p.N773H 0.999 91 0% 90 33.3% 1 100% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HERC3 8916 genome.wustl.edu 37 4 89625758 89625758 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014606.1 +1 provisional p.L981I 1.000 50 0% 98 26.5% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain FAM13A 10144 genome.wustl.edu 37 4 89709043 89709043 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014883.2 -1 validated p.L378I 1.000 278 0.4% 243 23.5% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL FAM13A 10144 genome.wustl.edu 37 4 89950689 89950689 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014883.2 -1 validated p.E47* 1.000 297 0% 227 25.6% 2 0% - - - superfamily_Rho_GAP GPRIN3 285513 genome.wustl.edu 37 4 90169213 90169213 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198281.2 -1 validated p.D683 0.992 74 0% 66 33.3% 3 0% - - - NULL MMRN1 22915 genome.wustl.edu 37 4 90855963 90855963 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007351.2 +1 reviewed p.L378I 1.000 171 0% 149 30.9% 0 - probably_damaging(0.996) tolerated(0.08) deleterious(0.762) NULL MMRN1 22915 genome.wustl.edu 37 4 90857582 90857582 + Missense_Mutation SNP C C A rs185952075 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007351.2 +1 reviewed p.F917L 0.974 96 0% 83 30.1% 0 - benign(0.001) tolerated(0.64) neutral(0.003) NULL TMSB4XP8 7117 genome.wustl.edu 37 4 91760159 91760159 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_183049.2 -1 validated p.I10 0.993 206 0% 156 25% 14 0% - - - HMMPfam_Thymosin,HMMSmart_THY PDLIM5 10611 genome.wustl.edu 37 4 95575654 95575654 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006457.3 +1 reviewed p.E443* 1.000 297 0% 251 26.3% 3 0% - - - HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) C4orf37 285555 genome.wustl.edu 37 4 98761986 98761986 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174952.2 -1 validated p.R381I 0.651 210 0% 185 11.9% 0 - benign(0.002) tolerated(0.19) neutral(0.050) NULL C4orf37 285555 genome.wustl.edu 37 4 98865070 98865070 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174952.2 -1 validated p.R341I 0.008 241 0% 214 29.4% 0 - benign(0.031) deleterious(0.01) neutral(0.407) NULL C4orf37 285555 genome.wustl.edu 37 4 98902414 98902414 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174952.2 -1 validated p.R223Q 0.849 531 0% 410 32.4% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL ADH6 130 genome.wustl.edu 37 4 100126168 100126168 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001102470.1 -1 reviewed p.E339D 0.960 367 0% 428 27.1% 0 - benign(0.046) deleterious(0.02) neutral(0.386) superfamily_GroES_like ADH1B 125 genome.wustl.edu 37 4 100235228 100235228 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000668.4 -1 reviewed p.G193D 1.000 453 0% 461 32.8% 0 - benign(0.387) deleterious(0.02) deleterious(0.507) HMMPfam_ADH_zinc_N,superfamily_NAD(P)-binding Rossmann-fold domains ADH7 131 genome.wustl.edu 37 4 100334325 100334325 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000673.4 -1 reviewed p.R381* 0.078 399 0% 278 30.2% 0 - - - - superfamily_GroES_like RG9MTD2 93587 genome.wustl.edu 37 4 100475027 100475027 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134665.1 -1 validated p.T187M 1.000 144 0% 144 13.9% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA_m1G_MT MTTP 4547 genome.wustl.edu 37 4 100534268 100534268 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000253.2 +1 reviewed p.G730* 1.000 105 0% 93 28% 0 - - - - NULL DAPP1 27071 genome.wustl.edu 37 4 100774455 100774455 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014395.2 +1 validated p.A147T 0.999 85 0% 82 30.5% 3 100% benign(0.02) tolerated(0.49) neutral(0.011) superfamily_SH2 domain DNAJB14 79982 genome.wustl.edu 37 4 100826754 100826754 + Missense_Mutation SNP G G A rs149618769 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001031723.2 -1 validated p.S281F 1.000 170 0% 149 32.9% 1 0% possibly_damaging(0.712) tolerated(0.06) deleterious(0.580) HMMPfam_DUF1977 EMCN 51705 genome.wustl.edu 37 4 101338287 101338287 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016242.3 -1 validated p.N226H 0.995 313 0% 187 31.6% 2 0% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMPfam_Endomucin PPP3CA 5530 genome.wustl.edu 37 4 102117235 102117235 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000944.4 -1 validated p.E33* 1.000 189 0% 138 31.2% 2 100% - - - superfamily_Metallo-dependent phosphatases MIR1255A 100302193 genome.wustl.edu 37 4 102251532 102251532 + RNA SNP C C A rs192307370 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000408338 -1 known NULL 0.001 31 0% 31 29% 0 - - - - - CISD2 493856 genome.wustl.edu 37 4 103806586 103806586 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008388.3 +1 reviewed p.T106M 1.000 62 0% 53 39.6% 32 37.5% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMSmart_SM00704,HMMPfam_zf-CDGSH SLC9B2 133308 genome.wustl.edu 37 4 103979035 103979035 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178833.4 -1 validated p.F122C 0.995 239 0% 262 29.8% 1 0% probably_damaging(0.973) tolerated(0.2) neutral(0.464) HMMPfam_Na_H_Exchanger CENPE 1062 genome.wustl.edu 37 4 104080192 104080192 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001813.2 -1 validated p.S859L 0.000 237 0% 186 22.6% 0 - benign(0) tolerated(0.62) neutral(0.004) NULL TACR3 6870 genome.wustl.edu 37 4 104511013 104511013 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001059.1 -1 reviewed p.S408 0.978 429 0% 314 27.4% 0 - - - - NULL TET2 54790 genome.wustl.edu 37 4 106155340 106155340 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127208.1 +1 validated p.E81* 0.896 307 0% 373 24.4% 0 - - - - NULL TET2 54790 genome.wustl.edu 37 4 106156748 106156748 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127208.1 +1 validated p.R550Q 0.000 312 0% 253 34.8% 1 0% benign(0.276) tolerated(0.96) neutral(0.029) NULL ARHGEF38 54848 genome.wustl.edu 37 4 106473935 106473935 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017700.1 +1 validated p.E5* 0.995 124 0% 109 19.3% 1 100% - - - NULL INTS12 57117 genome.wustl.edu 37 4 106607862 106607862 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142471.1 -1 validated p.R264I 1.000 145 0% 106 31.1% 3 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GSTCD 79807 genome.wustl.edu 37 4 106640330 106640330 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001031720.2 +1 validated p.E180D 0.778 351 0% 324 17% 1 0% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) superfamily_Glutathione S-transferase (GST) C-terminal domain GSTCD 79807 genome.wustl.edu 37 4 106647940 106647940 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001031720.2 +1 validated p.D367N 0.050 292 0% 227 30% 2 50% benign(0.028) deleterious(0.01) neutral(0.407) NULL NPNT 255743 genome.wustl.edu 37 4 106861330 106861330 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001033047.2 +1 validated p.D202N 1.000 263 0% 258 32.9% 0 - benign(0.001) deleterious(0.05) neutral(0.345) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Growth factor receptor domain NPNT 255743 genome.wustl.edu 37 4 106890054 106890054 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001033047.2 +1 validated p.V535 1.000 78 0% 86 37.2% 3 66.6% - - - HMMPfam_MAM,HMMSmart_SM00137 TBCK 93627 genome.wustl.edu 37 4 107163689 107163689 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033115.3 -1 validated p.R307* 1.000 105 0% 135 20.7% 3 0% - - - NULL DKK2 27123 genome.wustl.edu 37 4 107845738 107845738 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014421.2 -1 reviewed p.L165 0.979 461 0% 356 33.1% 1 0% - - - NULL SGMS2 166929 genome.wustl.edu 37 4 108824391 108824391 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001136257.1 +1 reviewed p.L192 0.986 295 0% 271 27.3% 0 - - - - NULL OSTC 58505 genome.wustl.edu 37 4 109571817 109571817 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021227.2 +1 validated p.E2 1.000 23 0% 28 32.1% 151 41% - - - HMMPfam_DUF2055 COL25A1 84570 genome.wustl.edu 37 4 109861724 109861724 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198721.1 -1 validated p.D215Y 1.000 121 0% 125 28.8% 0 - probably_damaging(0.997) - - HMMPfam_Collagen LOC389217 389217 genome.wustl.edu 37 4 110474711 110474711 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001717714.1 -1 model p.T193 0.966 76 0% 65 26.2% 0 - - - - HMMPfam_NAP CCDC109B 55013 genome.wustl.edu 37 4 110605624 110605624 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017918.4 +1 validated p.S213L 0.030 119 0% 89 33.7% 38 21% possibly_damaging(0.598) deleterious(0) deleterious(0.651) HMMPfam_DUF607 CFI 3426 genome.wustl.edu 37 4 110663746 110663746 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000204.3 -1 reviewed p.E479K 0.004 71 0% 102 26.5% 173 56% benign(0) tolerated(0.86) neutral(0.001) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases GAR1 54433 genome.wustl.edu 37 4 110740182 110740182 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018983.3 +1 reviewed p.N132S 1.000 222 0% 148 20.3% 1 0% possibly_damaging(0.925) deleterious(0.01) deleterious(0.779) HMMPfam_Gar1 RRH 10692 genome.wustl.edu 37 4 110763706 110763706 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006583.2 +1 reviewed p.P268T 1.000 443 0.2% 302 32.8% 0 - possibly_damaging(0.951) tolerated(0.06) deleterious(0.717) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like EGF 1950 genome.wustl.edu 37 4 110885592 110885592 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001963.4 +1 reviewed p.D492Y 1.000 390 0% 324 29% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF63825 EGF 1950 genome.wustl.edu 37 4 110929323 110929323 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001963.4 +1 reviewed p.E1103* 0.995 63 0% 52 17.3% 1 0% - - - NULL ENPEP 2028 genome.wustl.edu 37 4 111469462 111469462 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001977.3 +1 validated p.E711K 0.022 90 0% 71 26.8% 0 - benign(0.03) tolerated(0.22) neutral(0.044) NULL C4orf21 55345 genome.wustl.edu 37 4 113468548 113468548 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000505019 -1 known p.L1831M 1.000 101 0% 77 37.7% 1 100% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_P-loop containing nucleoside triphosphate hydrolases LARP7 51574 genome.wustl.edu 37 4 113568088 113568088 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015454.1 +1 validated p.E177K 1.000 220 0.5% 221 37.1% 4 25% possibly_damaging(0.729) tolerated(0.11) deleterious(0.537) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ANK2 287 genome.wustl.edu 37 4 114120171 114120171 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001148.4 +1 reviewed p.G97E 1.000 109 0% 51 29.4% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANK2 287 genome.wustl.edu 37 4 114275745 114275745 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001148.4 +1 reviewed p.R1991W 0.897 481 0% 454 52.2% 0 - probably_damaging(1) - - NULL CAMK2D 817 genome.wustl.edu 37 4 114376915 114376915 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001221.3 -1 reviewed p.I499T 1.000 198 0% 141 22% 1 0% benign(0.025) deleterious(0) neutral(0.446) NULL UGT8 7368 genome.wustl.edu 37 4 115544424 115544424 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001128174.1 +1 validated p.E130* 0.999 169 0% 180 35.6% 4 0% - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase TRAM1L1 133022 genome.wustl.edu 37 4 118006227 118006227 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152402.2 -1 validated p.R108I 0.616 150 3.3% 118 25.4% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_TRAM1 SEC24D 9871 genome.wustl.edu 37 4 119718950 119718950 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014822.2 -1 reviewed p.R310Q 1.000 87 0% 54 29.6% 20 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_beta-sandwich domain of Sec23/24 PRDM5 11107 genome.wustl.edu 37 4 121719480 121719480 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018699.2 -1 reviewed p.K377T 1.000 155 0% 124 24.2% 0 - benign(0.074) tolerated(0.15) neutral(0.246) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TNIP3 79931 genome.wustl.edu 37 4 122075732 122075732 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001128843.1 -1 validated p.E156K 0.973 169 0% 136 27.2% 0 - possibly_damaging(0.858) tolerated(0.2) neutral(0.380) NULL QRFPR 84109 genome.wustl.edu 37 4 122250549 122250549 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198179.2 -1 validated p.E406K 0.002 435 0% 280 30.4% 0 - benign(0) tolerated(0.29) neutral(0.029) NULL QRFPR 84109 genome.wustl.edu 37 4 122253995 122253995 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198179.2 -1 validated p.E260* 1.000 225 0.4% 132 25.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 EXOSC9 5393 genome.wustl.edu 37 4 122734501 122734501 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001034194.1 +1 validated p.E314* 1.000 324 0% 257 25.7% 7 0% - - - NULL KIAA1109 84162 genome.wustl.edu 37 4 123192604 123192604 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015312.3 +1 reviewed p.R2642Q 1.000 146 0% 123 22% 1 0% possibly_damaging(0.91) tolerated(0.3) neutral(0.391) NULL KIAA1109 84162 genome.wustl.edu 37 4 123283345 123283345 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000306802 +1 known p.S1363L 0.178 344 0% 239 20.1% 9 44.4% - - - HMMPfam_FSA_C ADAD1 132612 genome.wustl.edu 37 4 123302231 123302231 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139243.3 +1 validated p.F86C 1.000 241 0% 134 26.9% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL SPATA5 166378 genome.wustl.edu 37 4 123855555 123855555 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145207.2 +1 validated p.D270G 0.000 167 0% 173 22% 1 0% benign(0) tolerated(0.13) neutral(0.253) NULL SPATA5 166378 genome.wustl.edu 37 4 123868422 123868422 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145207.2 +1 validated p.A498V 1.000 98 0% 102 32.4% 1 0% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD50 57182 genome.wustl.edu 37 4 125591538 125591538 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020337.2 -1 validated p.F965C 1.000 189 0% 237 24.5% 3 66.6% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANKRD50 57182 genome.wustl.edu 37 4 125592223 125592223 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020337.2 -1 validated p.R737* 0.979 159 0% 194 34% 3 0% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANKRD50 57182 genome.wustl.edu 37 4 125593603 125593603 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020337.2 -1 validated p.E277* 1.000 54 0% 49 22.4% 0 - - - - NULL FAT4 79633 genome.wustl.edu 37 4 126240948 126240948 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024582.4 +1 validated p.D1128Y 1.000 345 0% 210 39% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126329733 126329733 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024582.4 +1 validated p.R1902* 0.993 216 0% 157 33.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126336699 126336699 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024582.4 +1 validated p.V2194A 0.037 310 0% 216 24.1% 0 - benign(0.058) tolerated(0.39) neutral(0.019) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126355566 126355566 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024582.4 +1 validated p.K2395N 0.017 229 0% 152 38.8% 0 - benign(0) tolerated(0.47) neutral(0.011) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126371065 126371065 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024582.4 +1 validated p.S2965N 1.000 188 0% 108 20.4% 0 - probably_damaging(0.974) deleterious(0.02) deleterious(0.799) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126412296 126412296 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024582.4 +1 validated p.P4773 0.000 129 0% 101 32.7% 1 0% - - - NULL INTU 27152 genome.wustl.edu 37 4 128577840 128577840 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015693.3 +1 validated p.I244 1.000 138 0% 154 27.9% 3 0% - - - HMMSmart_SM00228,superfamily_PDZ domain-like INTU 27152 genome.wustl.edu 37 4 128629737 128629737 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000510766 +1 known p.E60* 1.000 73 0% 55 27.3% 0 - probably_damaging(0.983) tolerated(0.16) deleterious(0.488) NULL HSPA4L 22824 genome.wustl.edu 37 4 128729189 128729189 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014278.2 +1 provisional p.F428C 1.000 143 0% 148 19.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HSP70,superfamily_SSF100920 HSPA4L 22824 genome.wustl.edu 37 4 128753852 128753852 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014278.2 +1 provisional p.F781L 0.996 573 0% 407 23.3% 1 0% benign(0) tolerated(0.74) neutral(0.002) superfamily_SSF100934 SCLT1 132320 genome.wustl.edu 37 4 129913344 129913344 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144643.2 -1 validated p.E222K 0.975 146 0% 161 16.8% 0 - probably_damaging(0.967) tolerated(0.12) deleterious(0.669) NULL PCDH10 57575 genome.wustl.edu 37 4 134072994 134072994 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032961.1 +1 reviewed p.Q567K 1.000 34 0% 41 22% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDH10 57575 genome.wustl.edu 37 4 134084242 134084242 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032961.1 +1 reviewed p.R970C 1.000 147 0.7% 139 32.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PCDH18 54510 genome.wustl.edu 37 4 138452946 138452946 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019035.3 -1 reviewed p.Q99H 1.000 392 0% 292 26.4% 0 - possibly_damaging(0.708) deleterious(0.01) deleterious(0.661) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like NAA15 80155 genome.wustl.edu 37 4 140264094 140264094 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_057175.3 +1 validated p.E173* 1.000 121 0% 101 34.7% 0 - - - - superfamily_TPR-like SETD7 80854 genome.wustl.edu 37 4 140444506 140444506 + Splice_Site SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030648.2 -1 validated e5+2 1.000 141 0% 125 22.4% 0 - - - - - CLGN 1047 genome.wustl.edu 37 4 141321545 141321545 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130675.1 -1 reviewed p.F220L 1.000 139 0% 129 30.2% 2 0% benign(0.406) tolerated(0.56) neutral(0.137) HMMPfam_Calreticulin,superfamily_Concanavalin A-like lectins/glucanases ELMOD2 255520 genome.wustl.edu 37 4 141458692 141458692 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153702.2 +1 validated p.M132I 0.028 165 0% 182 26.9% 11 63.6% benign(0) tolerated(0.11) neutral(0.272) HMMPfam_ELMO_CED12 ELMOD2 255520 genome.wustl.edu 37 4 141461379 141461379 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153702.2 +1 validated p.A153T 1.000 190 0% 166 25.3% 13 61.5% benign(0.344) tolerated(0.16) neutral(0.168) HMMPfam_ELMO_CED12 INPP4B 8821 genome.wustl.edu 37 4 143130147 143130147 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001101669.1 -1 reviewed p.S290Y 1.000 168 0% 129 32.6% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL INPP4B 8821 genome.wustl.edu 37 4 143159140 143159140 + Nonsense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001101669.1 -1 reviewed p.L238* 1.000 110 0% 97 24.7% 1 0% - - - NULL USP38 84640 genome.wustl.edu 37 4 144118978 144118978 + Silent SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032557.5 +1 validated p.V317 0.996 130 0% 154 27.9% 0 - - - - NULL USP38 84640 genome.wustl.edu 37 4 144127259 144127259 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032557.5 +1 validated p.S428Y 1.000 147 0% 170 26.5% 1 0% possibly_damaging(0.539) tolerated(0.32) neutral(0.206) NULL SMARCA5 8467 genome.wustl.edu 37 4 144465084 144465084 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003601.2 +1 reviewed p.V711I 1.000 406 0% 355 31.3% 9 44.4% benign(0.003) tolerated(0.35) neutral(0.021) superfamily_SSF52540 SMARCA5 8467 genome.wustl.edu 37 4 144465091 144465091 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003601.2 +1 reviewed p.N713T 1.000 403 0% 344 20.9% 9 11.1% benign(0) tolerated(0.1) neutral(0.286) superfamily_SSF52540 GYPB 2994 genome.wustl.edu 37 4 144922437 144922437 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002100.3 -1 reviewed e2-1 0.086 278 0% 193 17.1% 0 - - - - - HHIP 64399 genome.wustl.edu 37 4 145635493 145635493 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022475.1 +1 reviewed p.R514C 0.997 111 0% 90 24.4% 0 - probably_damaging(0.994) tolerated(0.17) deleterious(0.511) superfamily_Soluble quinoprotein glucose dehydrogenase HHIP 64399 genome.wustl.edu 37 4 145655947 145655947 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022475.1 +1 reviewed p.T605 0.061 183 0% 128 20.3% 1 0% - - - superfamily_EGF/Laminin ABCE1 6059 genome.wustl.edu 37 4 146048713 146048713 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040876.1 +1 reviewed p.F596L 1.000 116 0% 84 26.2% 8 50% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) NULL OTUD4 54726 genome.wustl.edu 37 4 146064547 146064547 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001102653.1 -1 reviewed p.K486 1.000 84 0% 56 12.5% 0 - - - - NULL OTUD4 54726 genome.wustl.edu 37 4 146071750 146071750 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001102653.1 -1 reviewed p.F327L 0.000 155 0% 122 36.1% 1 0% benign(0) tolerated(0.56) neutral(0.006) NULL SLC10A7 84068 genome.wustl.edu 37 4 147204409 147204409 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001029998.3 -1 validated p.S261L 1.000 38 0% 53 22.6% 2 100% benign(0) tolerated(1) - NULL SLC10A7 84068 genome.wustl.edu 37 4 147431199 147431199 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001029998.3 -1 validated p.E62 1.000 86 0% 73 26% 1 0% - - - HMMPfam_SBF ARHGAP10 79658 genome.wustl.edu 37 4 148778715 148778715 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024605.3 +1 validated p.K132N 1.000 52 0% 49 40.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ARHGAP10 79658 genome.wustl.edu 37 4 148787875 148787875 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024605.3 +1 validated p.F204V 1.000 131 0% 105 19% 2 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL ARHGAP10 79658 genome.wustl.edu 37 4 148803082 148803082 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024605.3 +1 validated p.R345W 0.925 367 0.3% 315 21.3% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 DCLK2 166614 genome.wustl.edu 37 4 151023773 151023773 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040260.2 +1 validated p.E189* 1.000 216 0% 209 25.4% 0 - - - - superfamily_Doublecortin (DC) DCLK2 166614 genome.wustl.edu 37 4 151023851 151023851 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040260.2 +1 validated p.L215I 1.000 198 0% 191 28.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DCX,HMMSmart_SM00537,superfamily_Doublecortin (DC) LRBA 987 genome.wustl.edu 37 4 151789427 151789427 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006726.2 -1 validated p.R827Q 1.000 294 0% 230 28.3% 0 - probably_damaging(0.987) tolerated(0.06) deleterious(0.759) superfamily_ARM repeat LRBA 987 genome.wustl.edu 37 4 151827521 151827521 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006726.2 -1 validated p.K510N 1.000 363 0% 323 28.5% 1 0% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_ARM repeat RPS3A 6189 genome.wustl.edu 37 4 152022212 152022212 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001006.3 +1 reviewed p.F84L 1.000 72 0% 98 22.4% 391 27.6% benign(0.037) deleterious(0.05) neutral(0.347) HMMPfam_Ribosomal_S3Ae PRSS48 345062 genome.wustl.edu 37 4 152201052 152201052 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_183375.2 +1 provisional p.C53G 1.000 183 0% 213 23% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys FBXW7 55294 genome.wustl.edu 37 4 153332553 153332553 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033632.2 -1 reviewed p.D135Y 1.000 328 0% 307 26.4% 5 20% unknown(0) deleterious(0.02) - superfamily_WD40 repeat-like TIGD4 201798 genome.wustl.edu 37 4 153691001 153691001 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145720.2 -1 reviewed p.E386* 0.781 300 0% 225 17.3% 0 - - - - NULL ARFIP1 27236 genome.wustl.edu 37 4 153809305 153809305 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001025595.1 +1 validated p.R271H 1.000 124 0% 140 27.9% 20 35% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Arfaptin TRIM2 23321 genome.wustl.edu 37 4 154215584 154215584 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015271.3 +1 validated p.R245C 1.000 113 0% 90 27.8% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00502 MND1 84057 genome.wustl.edu 37 4 154318479 154318479 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032117.2 +1 validated p.E154* 1.000 65 0% 73 31.5% 13 53.8% - - - HMMPfam_Mnd1 KIAA0922 23240 genome.wustl.edu 37 4 154479457 154479457 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015196.3 +1 validated p.K199 0.115 274 0% 254 25.6% 0 - - - - NULL TLR2 7097 genome.wustl.edu 37 4 154624714 154624714 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003264.3 +1 reviewed p.D219Y 0.779 180 0% 161 24.2% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52058 FGB 2244 genome.wustl.edu 37 4 155488886 155488886 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005141.4 +1 reviewed p.K211R 0.994 289 0% 234 35.5% 0 - benign(0.184) tolerated(0.27) neutral(0.051) HMMPfam_Fib_beta FGB 2244 genome.wustl.edu 37 4 155491638 155491638 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005141.4 +1 reviewed p.H438N 1.000 202 0% 202 25.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,PatternScan_FIBRIN_AG_C_DOMAIN,superfamily_Fibrinogen C-terminal domain-like FGG 2266 genome.wustl.edu 37 4 155533728 155533728 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021870.2 -1 reviewed p.L12I 0.006 194 0% 217 26.7% 0 - benign(0.086) deleterious(0) neutral(0.451) NULL RBM46 166863 genome.wustl.edu 37 4 155720180 155720180 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144979.3 +1 validated p.S289F 1.000 152 0% 178 27% 0 - possibly_damaging(0.821) deleterious(0.02) deleterious(0.694) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 RBM46 166863 genome.wustl.edu 37 4 155720414 155720414 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144979.3 +1 validated p.R367I 1.000 269 0% 271 34.7% 0 - benign(0.128) tolerated(0.12) neutral(0.271) NULL MAP9 79884 genome.wustl.edu 37 4 156296099 156296099 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039580.1 -1 validated p.S50 1.000 227 0% 152 22.4% 0 - - - - NULL GLRB 2743 genome.wustl.edu 37 4 158091671 158091671 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000824.4 +1 reviewed p.D429Y 1.000 282 0% 176 18.8% 2 50% possibly_damaging(0.924) deleterious(0.01) deleterious(0.778) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GRIA2 2891 genome.wustl.edu 37 4 158254085 158254085 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000826.3 +1 reviewed p.N333H 1.000 150 0% 116 27.6% 0 - probably_damaging(0.996) tolerated(0.06) deleterious(0.784) HMMPfam_ANF_receptor,superfamily_SSF53822 GRIA2 2891 genome.wustl.edu 37 4 158257015 158257015 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000826.3 +1 reviewed p.E487* 1.000 108 0% 65 27.7% 0 - - - - HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53850 TMEM144 55314 genome.wustl.edu 37 4 159133892 159133892 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018342.4 +1 validated p.N25H 0.965 261 0% 213 30% 3 33.3% probably_damaging(0.995) tolerated(0.19) deleterious(0.507) HMMPfam_DUF1632 RXFP1 59350 genome.wustl.edu 37 4 159533502 159533502 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021634.2 +1 provisional p.S223Y 1.000 118 0% 115 17.4% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_L domain-like ETFDH 2110 genome.wustl.edu 37 4 159629631 159629631 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004453.2 +1 reviewed p.N602K 1.000 121 0% 98 15.3% 7 28.5% probably_damaging(0.997) tolerated(0.69) neutral(0.468) NULL C4orf45 152940 genome.wustl.edu 37 4 159836477 159836477 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152543.2 -1 validated p.K131Q 0.000 67 0% 59 40.7% 0 - benign(0.312) tolerated(0.56) neutral(0.104) NULL RAPGEF2 9693 genome.wustl.edu 37 4 160252656 160252656 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014247.2 +1 validated p.F353C 1.000 199 0% 168 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RasGEF_N,HMMSmart_RasGEFN,superfamily_Ras_GEF RAPGEF2 9693 genome.wustl.edu 37 4 160271321 160271321 + Missense_Mutation SNP C C A rs186800143 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014247.2 +1 validated p.L1088I 1.000 116 0% 68 17.6% 0 - possibly_damaging(0.766) deleterious(0.02) deleterious(0.667) NULL NPY1R 4886 genome.wustl.edu 37 4 164246472 164246472 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000909.4 -1 validated p.D380Y 0.995 246 0% 176 25.6% 0 - possibly_damaging(0.741) deleterious(0) deleterious(0.716) NULL NPY1R 4886 genome.wustl.edu 37 4 164247027 164247027 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000909.4 -1 validated p.I227T 1.000 152 0% 155 31.6% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NPY5R 4889 genome.wustl.edu 37 4 164272489 164272489 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006174.2 +1 provisional p.S355Y 0.973 181 0% 158 33.5% 0 - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_7tm_1,superfamily_SSF81321 TRIM75 391714 genome.wustl.edu 37 4 165981171 165981171 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000322402 +1 known p.K291T 0.009 124 0% 172 28.5% 0 - - - - NULL CPE 1363 genome.wustl.edu 37 4 166408640 166408640 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001873.2 +1 reviewed p.E342K 1.000 173 0% 160 30.6% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases TLL1 7092 genome.wustl.edu 37 4 166964437 166964437 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012464.3 +1 reviewed p.G464C 1.000 685 0% 528 11.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain SPOCK3 50859 genome.wustl.edu 37 4 167675729 167675729 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016950.2 -1 validated p.N290 0.993 142 0% 146 26.7% 0 - - - - HMMPfam_SPARC_Ca_bdg,superfamily_EF-hand SPOCK3 50859 genome.wustl.edu 37 4 167983643 167983643 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016950.2 -1 validated p.A82T 1.000 216 0% 179 27.9% 0 - possibly_damaging(0.907) deleterious(0.03) deleterious(0.725) NULL ANXA10 11199 genome.wustl.edu 37 4 169102890 169102890 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007193.3 +1 reviewed p.H261N 1.000 142 0% 69 37.7% 0 - possibly_damaging(0.677) deleterious(0) deleterious(0.685) superfamily_Annexin,HMMPfam_Annexin DDX60 55601 genome.wustl.edu 37 4 169208246 169208246 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017631.5 -1 validated p.R431I 0.725 285 0.4% 253 28.5% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL NEK1 4750 genome.wustl.edu 37 4 170321696 170321696 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012224.1 -1 validated p.F1202L 1.000 57 0% 45 13.3% 0 - benign(0.054) tolerated(0.15) neutral(0.244) NULL NEK1 4750 genome.wustl.edu 37 4 170327820 170327820 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012224.1 -1 validated p.R1073C 0.011 99 0% 90 38.9% 0 - benign(0.001) tolerated(0.14) neutral(0.249) NULL CLCN3 1182 genome.wustl.edu 37 4 170610332 170610332 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173872.2 +1 validated p.K186T 1.000 174 0% 123 31.7% 6 33.3% benign(0.002) tolerated(0.08) neutral(0.300) superfamily_Cl-channel_core C4orf27 54969 genome.wustl.edu 37 4 170652934 170652934 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017867.2 -1 validated p.F277C 0.900 268 0% 203 20.7% 57 38.5% probably_damaging(0.969) tolerated(0.08) deleterious(0.712) HMMPfam_DUF2228 GALNT7 51809 genome.wustl.edu 37 4 174213410 174213410 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017423.2 +1 reviewed p.D247N 1.000 85 0% 58 20.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases GALNT7 51809 genome.wustl.edu 37 4 174235223 174235223 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017423.2 +1 reviewed p.R502* 1.000 261 0% 268 23.9% 1 0% - - - superfamily_Nucleotide-diphospho-sugar transferases HMGB2 3148 genome.wustl.edu 37 4 174254125 174254125 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130688.1 -1 reviewed p.C106* 1.000 269 0% 172 11.6% 136 0.7% - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box FBXO8 26269 genome.wustl.edu 37 4 175162308 175162308 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012180.2 -1 reviewed p.F173C 1.000 72 0% 85 28.2% 17 23.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain CEP44 80817 genome.wustl.edu 37 4 175224997 175224997 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145314.1 +1 validated p.Q127H 0.001 68 0% 60 35% 0 - possibly_damaging(0.447) tolerated(0.1) neutral(0.432) NULL CEP44 80817 genome.wustl.edu 37 4 175231080 175231080 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145314.1 +1 validated p.S253L 0.000 77 1.3% 74 29.7% 0 - benign(0) tolerated(1) - NULL ADAM29 11086 genome.wustl.edu 37 4 175897197 175897197 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130703.1 +1 reviewed p.R174Q 0.000 196 0% 197 26.4% 0 - benign(0.158) tolerated(1) neutral(0.014) NULL ADAM29 11086 genome.wustl.edu 37 4 175897437 175897437 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130703.1 +1 reviewed p.K254T 0.000 263 0% 225 35.6% 0 - possibly_damaging(0.446) tolerated(0.36) neutral(0.166) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" GPM6A 2823 genome.wustl.edu 37 4 176573136 176573136 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005277.3 -1 validated p.F130L 0.998 90 0% 65 30.8% 0 - benign(0.002) deleterious(0.03) neutral(0.364) HMMPfam_Myelin_PLP WDR17 116966 genome.wustl.edu 37 4 177049892 177049892 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_170710.4 +1 reviewed p.S289Y 1.000 78 0% 60 33.3% 0 - probably_damaging(0.98) deleterious(0.02) deleterious(0.807) HMMSmart_WD40,superfamily_Amine_DH_B_like WDR17 116966 genome.wustl.edu 37 4 177056310 177056310 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_170710.4 +1 reviewed p.L408I 1.000 246 0% 172 33.7% 0 - benign(0.095) tolerated(0.49) neutral(0.018) HMMSmart_WD40,superfamily_Amine_DH_B_like,superfamily_WD40_like,HMMPfam_WD40 WDR17 116966 genome.wustl.edu 37 4 177089834 177089834 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_170710.4 +1 reviewed p.A1040V 0.926 103 0% 94 22.3% 0 - benign(0) tolerated(1) - NULL SPATA4 132851 genome.wustl.edu 37 4 177106011 177106011 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144644.2 -1 provisional p.E280* 0.007 128 0% 101 28.7% 0 - - - - NULL SPATA4 132851 genome.wustl.edu 37 4 177114120 177114120 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144644.2 -1 provisional p.L152F 0.768 93 0% 86 16.3% 0 - probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMPfam_DUF1042 NEIL3 55247 genome.wustl.edu 37 4 178274615 178274615 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018248.2 +1 validated p.K398T 0.975 221 0% 164 33.5% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL AGA 175 genome.wustl.edu 37 4 178355562 178355562 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000027.3 -1 reviewed p.G260 0.001 227 0% 254 39% 54 38.8% - - - HMMPfam_Asparaginase_2,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) ODZ3 55714 genome.wustl.edu 37 4 183675945 183675945 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080477.1 +1 provisional p.S1475 0.998 119 0% 85 30.6% 0 - - - - HMMPfam_NHL,superfamily_ConA_like_lec_gl,superfamily_SSF101898,superfamily_SSF63829 ODZ3 55714 genome.wustl.edu 37 4 183714437 183714437 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080477.1 +1 provisional p.I2204 1.000 165 0% 155 25.8% 0 - - - - NULL ODZ3 55714 genome.wustl.edu 37 4 183714572 183714572 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080477.1 +1 provisional p.F2249L 0.991 127 0% 105 32.4% 0 - possibly_damaging(0.747) deleterious(0.03) deleterious(0.639) NULL CDKN2AIP 55602 genome.wustl.edu 37 4 184367801 184367801 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017632.2 +1 provisional p.K322E 1.000 63 0% 66 28.8% 5 60% unknown(0) deleterious(0) - NULL STOX2 56977 genome.wustl.edu 37 4 184930780 184930780 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020225.1 +1 provisional p.S263 0.996 100 0% 65 32.3% 0 - - - - NULL ENPP6 133121 genome.wustl.edu 37 4 185033894 185033894 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153343.3 -1 validated p.F308L 1.000 225 0% 146 17.8% 0 - probably_damaging(0.987) tolerated(0.19) deleterious(0.486) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core ENPP6 133121 genome.wustl.edu 37 4 185074800 185074800 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153343.3 -1 validated p.D110Y 1.000 79 0% 91 30.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core IRF2 3660 genome.wustl.edu 37 4 185339800 185339800 + Missense_Mutation SNP C C G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002199.3 -1 reviewed p.A84P 1.000 103 0% 99 19.2% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_IRF,HMMSmart_SM00348,superfamily_""Winged helix"" DNA-binding domain" IRF2 3660 genome.wustl.edu 37 4 185340702 185340702 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000509274 -1 known p.P78S 0.995 123 0% 132 19.7% 8 50% benign(0.014) deleterious(0) neutral(0.445) NULL CCDC111 201973 genome.wustl.edu 37 4 185593329 185593329 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152683.2 +1 validated p.N187H 1.000 115 0% 121 30.6% 0 - - - - HMMPfam_DNA_primase_S MLF1IP 79682 genome.wustl.edu 37 4 185621975 185621975 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024629.3 -1 validated p.R329W 1.000 102 0% 86 23.3% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL MLF1IP 79682 genome.wustl.edu 37 4 185622020 185622020 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024629.3 -1 validated p.E314K 0.163 75 0% 70 28.6% 4 50% probably_damaging(0.99) tolerated(0.16) deleterious(0.501) NULL ACSL1 2180 genome.wustl.edu 37 4 185681557 185681557 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001995.2 -1 reviewed p.R579Q 0.998 654 0% 597 26% 9 44.4% possibly_damaging(0.539) deleterious(0.01) deleterious(0.588) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSL1 2180 genome.wustl.edu 37 4 185689574 185689574 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001995.2 -1 reviewed p.G342R 1.000 145 0% 129 31% 16 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSL1 2180 genome.wustl.edu 37 4 185724638 185724638 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001995.2 -1 reviewed p.R11* 1.000 60 0% 64 29.7% 10 0% - - - NULL SNX25 83891 genome.wustl.edu 37 4 186244868 186244868 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031953.2 +1 validated p.F391L 1.000 148 0% 125 24.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam UFSP2 55325 genome.wustl.edu 37 4 186336376 186336376 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018359.3 -1 validated p.K206T 0.000 119 0% 142 27.5% 2 50% benign(0.014) tolerated(0.76) neutral(0.002) NULL CCDC110 256309 genome.wustl.edu 37 4 186379440 186379440 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152775.3 -1 validated p.L767 0.999 107 0% 98 29.6% 0 - - - - NULL CCDC110 256309 genome.wustl.edu 37 4 186382295 186382295 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152775.3 -1 validated p.E86* 1.000 124 0% 112 18.8% 0 - - - - NULL CCDC110 256309 genome.wustl.edu 37 4 186392141 186392141 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152775.3 -1 validated p.N25H 0.843 88 0% 72 20.8% 0 - possibly_damaging(0.844) deleterious(0) deleterious(0.768) NULL SORBS2 8470 genome.wustl.edu 37 4 186570727 186570727 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021069.4 -1 reviewed p.D155N 1.000 86 0% 81 12.3% 76 21% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL TLR3 7098 genome.wustl.edu 37 4 187005882 187005882 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003265.2 +1 reviewed p.D857A 1.000 73 0% 83 27.7% 8 75% possibly_damaging(0.868) deleterious(0.01) deleterious(0.743) HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR CYP4V2 285440 genome.wustl.edu 37 4 187131629 187131629 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207352.3 +1 reviewed p.K471T 0.998 220 0% 218 24.3% 11 18.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_p450,superfamily_Cytochrome P450 KLKB1 3818 genome.wustl.edu 37 4 187178433 187178433 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000892.3 +1 reviewed p.E547* 1.000 287 0% 182 30.2% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys F11 2160 genome.wustl.edu 37 4 187201532 187201532 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000128.3 +1 reviewed p.E341K 0.000 203 0% 240 20% 0 - benign(0) tolerated(0.53) neutral(0.007) HMMSmart_SM00223,PatternScan_APPLE,HMMPfam_PAN_1 F11 2160 genome.wustl.edu 37 4 187206880 187206880 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000128.3 +1 reviewed p.E465* 0.999 199 0% 159 23.9% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases MTNR1A 4543 genome.wustl.edu 37 4 187455704 187455704 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005958.3 -1 reviewed p.I64 0.967 58 0% 55 25.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FAT1 2195 genome.wustl.edu 37 4 187509797 187509797 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000512772 -1 known p.R352* 0.220 54 0% 61 14.8% 115 6.9% - - - NULL FAT1 2195 genome.wustl.edu 37 4 187517875 187517875 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000512772 -1 known p.R41* 0.617 90 0% 92 23.9% 24 66.6% - - - NULL FAT1 2195 genome.wustl.edu 37 4 187532854 187532854 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005245.3 -1 reviewed p.I3180S 0.999 89 0% 52 34.6% 1 0% benign(0.358) deleterious(0) deleterious(0.558) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187539951 187539951 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005245.3 -1 reviewed p.R2597* 0.986 106 0% 54 38.9% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187557284 187557284 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005245.3 -1 reviewed p.E1360* 1.000 113 0% 139 28.1% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187628521 187628521 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005245.3 -1 reviewed p.E821K 0.989 218 0% 211 27% 4 50% possibly_damaging(0.866) tolerated(0.72) neutral(0.337) superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like LRRC14B 389257 genome.wustl.edu 37 5 195133 195133 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080478.1 +1 provisional p.A404T 0.997 7 0.000 7 0.571 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_RNI-like AHRR 57491 genome.wustl.edu 37 5 353972 353972 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020731.3 +1 reviewed p.L68F 1.000 21 0% 43 27.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_HLH,HMMSmart_SM00353 SLC6A3 6531 genome.wustl.edu 37 5 1432663 1432663 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001044.4 -1 reviewed p.S190L 0.987 33 0% 68 17.6% 0 - benign(0.253) tolerated(0.58) neutral(0.031) HMMPfam_SNF SLC6A3 6531 genome.wustl.edu 37 5 1443034 1443034 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001044.4 -1 reviewed p.N93K 0.588 42 0% 60 31.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1 ADAMTS16 170690 genome.wustl.edu 37 5 5239993 5239993 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139056.2 +1 reviewed p.E826D 1.000 260 0% 189 28% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_ADAM_spacer1 KIAA0947 23379 genome.wustl.edu 37 5 5461834 5461834 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015325.1 +1 validated p.L796S 0.000 81 0% 97 20.6% 0 - possibly_damaging(0.664) deleterious(0.01) deleterious(0.641) NULL KIAA0947 23379 genome.wustl.edu 37 5 5462263 5462263 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015325.1 +1 validated p.S939Y 0.000 158 0% 148 19.6% 0 - benign(0.34) tolerated(0.22) neutral(0.149) NULL KIAA0947 23379 genome.wustl.edu 37 5 5464048 5464048 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015325.1 +1 validated p.I1534N 0.000 115 0% 108 10.2% 0 - benign(0.087) tolerated(0.17) neutral(0.066) NULL KIAA0947 23379 genome.wustl.edu 37 5 5464080 5464080 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015325.1 +1 validated p.K1545Q 0.438 111 0% 103 23.3% 0 - probably_damaging(0.98) deleterious(0.03) deleterious(0.788) NULL NSUN2 54888 genome.wustl.edu 37 5 6620391 6620391 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017755.4 -1 validated p.D215N 1.000 89 0% 153 18.3% 9 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nol1_Nop2_Fmu,superfamily_SSF53335 LOC442132 442132 genome.wustl.edu 37 5 7305213 7305213 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_040018.2 -1 model NULL 0.112 42 0% 39 25.6% 0 - - - - - ADCY2 108 genome.wustl.edu 37 5 7706894 7706894 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020546.2 +1 reviewed p.R383C 1.000 137 0.7% 168 39.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase ADCY2 108 genome.wustl.edu 37 5 7766820 7766820 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020546.2 +1 reviewed p.E705D 0.064 266 0% 243 23.5% 1 0% benign(0) tolerated(0.62) neutral(0.004) NULL MTRR 4552 genome.wustl.edu 37 5 7895863 7895863 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024010.2 +1 reviewed p.R552Q 0.947 390 0% 251 24.3% 11 36.3% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL SEMA5A 9037 genome.wustl.edu 37 5 9337844 9337844 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003966.2 -1 reviewed p.E69* 1.000 196 0% 138 21% 0 - - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema MARCH6 10299 genome.wustl.edu 37 5 10430095 10430095 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005885.2 +1 provisional p.Q866R 1.000 128 0% 117 24.8% 19 36.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ROPN1L 83853 genome.wustl.edu 37 5 10450114 10450114 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031916.3 +1 reviewed p.K102N 0.022 139 0% 129 10.9% 4 0% possibly_damaging(0.637) tolerated(0.08) deleterious(0.523) NULL DNAH5 1767 genome.wustl.edu 37 5 13719138 13719138 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001369.2 -1 reviewed p.E4118* 1.000 142 0% 134 35.8% 1 100% - - - HMMPfam_Dynein_heavy DNAH5 1767 genome.wustl.edu 37 5 13753429 13753429 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001369.2 -1 reviewed p.T3595 0.967 307 0% 297 33.7% 0 - - - - NULL DNAH5 1767 genome.wustl.edu 37 5 13754320 13754320 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001369.2 -1 reviewed p.R3516I 1.000 308 0% 298 23.8% 1 100% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL DNAH5 1767 genome.wustl.edu 37 5 13762932 13762932 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001369.2 -1 reviewed p.E3394K 1.000 142 0% 129 25.6% 0 - probably_damaging(0.953) deleterious(0.01) deleterious(0.802) NULL DNAH5 1767 genome.wustl.edu 37 5 13769652 13769652 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001369.2 -1 reviewed p.A3226 0.280 183 0% 146 28.8% 0 - - - - NULL DNAH5 1767 genome.wustl.edu 37 5 13809249 13809249 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001369.2 -1 reviewed p.P2552 0.000 180 0% 189 21.7% 0 - - - - superfamily_SSF52540 DNAH5 1767 genome.wustl.edu 37 5 13871022 13871022 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001369.2 -1 reviewed p.E1230* 1.000 213 0% 202 26.7% 0 - - - - superfamily_Spectrin DNAH5 1767 genome.wustl.edu 37 5 13882851 13882851 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001369.2 -1 reviewed p.E1083G 0.334 193 0% 170 17.1% 0 - benign(0) tolerated(0.22) neutral(0.042) NULL DNAH5 1767 genome.wustl.edu 37 5 13900515 13900515 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001369.2 -1 reviewed p.E687* 0.790 112 0% 101 25.7% 0 - - - - HMMPfam_DHC_N1 TRIO 7204 genome.wustl.edu 37 5 14290915 14290915 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007118.2 +1 validated p.E211K 1.000 109 0% 70 12.9% 0 - unknown(0) tolerated(0.16) - superfamily_CRAL/TRIO domain TRIO 7204 genome.wustl.edu 37 5 14387901 14387901 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007118.2 +1 validated p.R1276* 0.991 100 0% 102 28.4% 1 0% - - - NULL TRIO 7204 genome.wustl.edu 37 5 14471511 14471511 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007118.2 +1 validated p.L1950I 1.000 32 0% 57 31.6% 1 100% unknown(0) tolerated(0.41) - superfamily_DBL homology domain (DH-domain) TRIO 7204 genome.wustl.edu 37 5 14479436 14479436 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007118.2 +1 validated p.E2074K 1.000 76 0% 50 22% 2 0% unknown(0) deleterious(0.01) - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) FAM105A 54491 genome.wustl.edu 37 5 14602334 14602334 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019018.2 +1 validated p.R131* 0.440 87 0% 112 29.5% 1 0% - - - NULL FAM105A 54491 genome.wustl.edu 37 5 14610388 14610388 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019018.2 +1 validated p.E346K 0.999 40 0% 43 25.6% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ENSG00000249556 0 genome.wustl.edu 37 5 14652560 14652560 + RNA SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000515374 +1 novel NULL 1.000 144 0% 186 18.3% 1 0% - - - - ENSG00000249556 0 genome.wustl.edu 37 5 14652762 14652762 + RNA SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000515374 +1 novel NULL 1.000 88 0% 144 32.6% 574 0% - - - - FAM105B 90268 genome.wustl.edu 37 5 14690287 14690287 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138348.4 +1 validated p.N245T 0.774 157 0% 138 28.3% 3 100% benign(0.05) tolerated(0.55) neutral(0.010) NULL ANKH 56172 genome.wustl.edu 37 5 14713672 14713672 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_054027.4 -1 reviewed p.V416M 0.920 31 0% 21 33.3% 25 4% benign(0.06) deleterious(0.02) neutral(0.387) NULL MARCH11 441061 genome.wustl.edu 37 5 16091049 16091049 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001102562.1 -1 provisional p.L279I 1.000 53 0% 61 29.5% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL FAM134B 54463 genome.wustl.edu 37 5 16475220 16475220 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000510362 -1 known p.E95* 0.533 213 0% 250 28.4% 4 25% benign(0.024) tolerated(0.07) neutral(0.320) NULL MYO10 4651 genome.wustl.edu 37 5 16701923 16701923 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012334.2 -1 validated p.E861* 0.637 65 0% 85 24.7% 4 0% - - - NULL MYO10 4651 genome.wustl.edu 37 5 16755002 16755002 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012334.2 -1 validated p.L622V 1.000 46 0% 40 22.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 CDH18 1016 genome.wustl.edu 37 5 19473477 19473477 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004934.3 -1 reviewed p.R744I 1.000 269 0.4% 209 27.3% 0 - possibly_damaging(0.675) deleterious(0) deleterious(0.684) HMMPfam_Cadherin_C CDH18 1016 genome.wustl.edu 37 5 19571921 19571921 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004934.3 -1 reviewed p.K340N 1.000 219 0% 126 25.4% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH12 1010 genome.wustl.edu 37 5 21755706 21755706 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004061.3 -1 reviewed p.L627F 1.000 228 0% 180 30% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CDH12 1010 genome.wustl.edu 37 5 21765152 21765152 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004061.3 -1 reviewed p.E484* 1.000 305 0% 175 24.6% 0 - - - - HMMSmart_CA,superfamily_Cadherin PRDM9 56979 genome.wustl.edu 37 5 23509680 23509680 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020227.2 +1 provisional p.N57K 0.996 259 0% 235 29.8% 0 - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box PRDM9 56979 genome.wustl.edu 37 5 23526419 23526419 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020227.2 +1 provisional p.E408K 0.000 323 0% 242 40.9% 0 - possibly_damaging(0.662) tolerated(1) neutral(0.234) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 CDH10 1008 genome.wustl.edu 37 5 24487890 24487890 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006727.2 -1 reviewed p.S750* 1.000 377 0% 315 28.3% 0 - - - - HMMPfam_Cadherin_C CDH10 1008 genome.wustl.edu 37 5 24487948 24487948 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006727.2 -1 reviewed p.D731N 1.000 326 0% 270 31.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin_C CDH9 1007 genome.wustl.edu 37 5 26881672 26881672 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016279.3 -1 reviewed p.S648* 1.000 247 0% 219 32% 0 - - - - HMMPfam_Cadherin_C DROSHA 29102 genome.wustl.edu 37 5 31515295 31515295 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013235.4 -1 validated p.R364C 1.000 329 0% 318 30.8% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PDZD2 23037 genome.wustl.edu 37 5 32108122 32108122 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178140.2 +1 reviewed p.L2801F 0.994 394 0% 355 19.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MTMR12 54545 genome.wustl.edu 37 5 32242202 32242202 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040446.1 -1 reviewed p.E378* 0.934 99 0% 93 26.9% 0 - - - - superfamily_(Phosphotyrosine protein) phosphatases II ZFR 51663 genome.wustl.edu 37 5 32355883 32355883 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016107.3 -1 validated p.D1070Y 1.000 258 0% 186 24.2% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ADAMTS12 81792 genome.wustl.edu 37 5 33624433 33624433 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030955.2 -1 reviewed p.I682 0.029 55 0% 53 32.1% 0 - - - - NULL ADAMTS12 81792 genome.wustl.edu 37 5 33662041 33662041 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030955.2 -1 reviewed p.D340 1.000 224 0% 161 34.8% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" TTC23L 153657 genome.wustl.edu 37 5 34867007 34867007 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144725.3 +1 validated p.A225T 0.980 51 0% 32 25% 1 100% probably_damaging(0.978) deleterious(0.05) deleterious(0.766) superfamily_TPR-like AGXT2 64902 genome.wustl.edu 37 5 34998865 34998865 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031900.3 -1 reviewed p.R502C 0.953 239 0% 210 33.3% 0 - benign(0.051) deleterious(0.01) neutral(0.409) superfamily_PyrdxlP-dep_Trfase_major UGT3A1 133688 genome.wustl.edu 37 5 35955770 35955770 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152404.3 -1 validated p.M424I 0.996 292 0% 264 33.7% 0 - benign(0.028) tolerated(0.06) neutral(0.324) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT3A2 167127 genome.wustl.edu 37 5 36035913 36035913 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174914.3 -1 validated p.D487N 0.993 41 0% 60 40% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UDPGT UGT3A2 167127 genome.wustl.edu 37 5 36049228 36049228 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174914.3 -1 validated p.K202N 0.993 455 0% 429 24.2% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_UDPGT,superfamily_SSF53756 LMBRD2 92255 genome.wustl.edu 37 5 36136567 36136567 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001007527.1 -1 validated p.L197 0.999 230 0% 210 26.7% 0 - - - - HMMPfam_LMBR1 NIPBL 25836 genome.wustl.edu 37 5 36962228 36962228 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133433.3 +1 reviewed p.R154 1.000 564 0% 599 31.2% 1 0% - - - superfamily_ARM repeat NIPBL 25836 genome.wustl.edu 37 5 36995732 36995732 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133433.3 +1 reviewed p.D1044Y 1.000 173 0% 154 25.3% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM repeat NIPBL 25836 genome.wustl.edu 37 5 37020891 37020891 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133433.3 +1 reviewed p.T1747I 1.000 354 0% 248 28.2% 4 100% possibly_damaging(0.456) tolerated(0.1) neutral(0.436) superfamily_ARM repeat C5orf42 65250 genome.wustl.edu 37 5 37121877 37121877 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023073.3 -1 predicted p.L1853 0.486 244 0% 209 12.9% 2 0% - - - NULL C5orf42 65250 genome.wustl.edu 37 5 37165735 37165735 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023073.3 -1 predicted p.R1360I 0.000 166 0% 143 32.2% 0 - possibly_damaging(0.688) deleterious(0) deleterious(0.691) NULL C5orf42 65250 genome.wustl.edu 37 5 37167256 37167256 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023073.3 -1 predicted p.Q1311 0.225 94 0% 78 32.1% 0 - - - - NULL C5orf42 65250 genome.wustl.edu 37 5 37169569 37169569 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023073.3 -1 predicted p.S1066L 0.000 164 0% 139 25.2% 0 - benign(0) deleterious(0.01) neutral(0.406) NULL EGFLAM 133584 genome.wustl.edu 37 5 38407068 38407068 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152403.2 +1 validated p.P323S 0.362 135 0% 133 31.6% 0 - benign(0.008) tolerated(0.1) neutral(0.286) NULL EGFLAM 133584 genome.wustl.edu 37 5 38407152 38407152 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152403.2 +1 validated p.L351F 0.007 104 0% 89 24.7% 0 - benign(0) tolerated(0.71) neutral(0.002) HMMSmart_EGF LIFR 3977 genome.wustl.edu 37 5 38506684 38506684 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127671.1 -1 reviewed p.E348* 0.998 132 0% 157 29.3% 0 - - - - HMMSmart_SM00060,superfamily_Fibronectin type III LIFR 3977 genome.wustl.edu 37 5 38510602 38510602 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127671.1 -1 reviewed p.E319K 0.001 202 0% 173 23.7% 0 - possibly_damaging(0.597) tolerated(0.57) neutral(0.212) NULL LIFR 3977 genome.wustl.edu 37 5 38527269 38527269 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127671.1 -1 reviewed p.E129* 1.000 156 0% 115 35.7% 0 - - - - superfamily_Fibronectin type III OSMR 9180 genome.wustl.edu 37 5 38933131 38933131 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003999.2 +1 reviewed p.P842Q 0.003 452 0% 382 27% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL FYB 2533 genome.wustl.edu 37 5 39202893 39202893 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001465.3 -1 validated p.F57C 0.998 147 0% 124 26.6% 1 0% possibly_damaging(0.936) tolerated(0.06) deleterious(0.704) NULL TTC33 23548 genome.wustl.edu 37 5 40716540 40716540 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012382.2 -1 validated p.E166K 1.000 240 0% 171 26.3% 3 0% probably_damaging(0.953) tolerated(0.08) deleterious(0.697) NULL PRKAA1 5562 genome.wustl.edu 37 5 40762891 40762891 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_206907.3 -1 reviewed p.L572I 1.000 174 0% 166 28.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRKAA1 5562 genome.wustl.edu 37 5 40762927 40762927 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_206907.3 -1 reviewed p.E560* 1.000 217 0% 203 24.1% 0 - - - - NULL CARD6 84674 genome.wustl.edu 37 5 40853621 40853621 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032587.3 +1 reviewed p.E729 0.000 576 0% 659 27% 1 100% - - - NULL CARD6 84674 genome.wustl.edu 37 5 40854448 40854448 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032587.3 +1 reviewed p.S1005Y 0.027 822 0% 917 29.4% 24 62.5% benign(0.195) deleterious(0.02) neutral(0.402) NULL C7 730 genome.wustl.edu 37 5 40950023 40950023 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000587.2 +1 reviewed p.E334* 0.000 32 0% 16 37.5% 0 - - - - HMMPfam_MACPF,HMMSmart_MACPF C7 730 genome.wustl.edu 37 5 40962230 40962230 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000587.2 +1 reviewed p.E569* 0.847 59 0% 50 22% 0 - - - - superfamily_Complement_control_module HEATR7B2 133558 genome.wustl.edu 37 5 40998246 40998246 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173489.4 -1 validated p.R1556C 0.992 194 0% 174 25.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_ARM repeat HEATR7B2 133558 genome.wustl.edu 37 5 41039566 41039566 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173489.4 -1 validated p.F682S 0.998 49 0% 46 28.3% 0 - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) superfamily_ARM repeat C6 729 genome.wustl.edu 37 5 41160374 41160374 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000065.2 -1 reviewed p.F518 1.000 223 0% 190 29.5% 0 - - - - NULL PLCXD3 345557 genome.wustl.edu 37 5 41381944 41381944 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005473.2 -1 validated p.E266* 1.000 216 0% 195 30.3% 0 - - - - superfamily_PLC-like_Pdiesterase_TIM-brl PLCXD3 345557 genome.wustl.edu 37 5 41382006 41382006 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005473.2 -1 validated p.S245Y 1.000 229 0% 208 33.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PLC-like_Pdiesterase_TIM-brl OXCT1 5019 genome.wustl.edu 37 5 41794836 41794836 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000436.3 -1 reviewed p.T372N 1.000 170 0% 118 29.7% 6 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CoA_trans,superfamily_SSF100950 C5orf34 375444 genome.wustl.edu 37 5 43487109 43487109 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000306862 -1 known p.E609* 0.906 100 0% 57 35.1% 1 0% - - - NULL MRPS30 10884 genome.wustl.edu 37 5 44812047 44812047 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016640.3 +1 reviewed p.E260* 0.991 89 0% 61 21.3% 1 0% - - - HMMPfam_PDCD9 HCN1 348980 genome.wustl.edu 37 5 45267197 45267197 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021072.2 -1 validated p.R593* 1.000 330 0% 267 24.3% 0 - - - - superfamily_cNMP_binding ITGA1 3672 genome.wustl.edu 37 5 52248245 52248245 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181501.1 +1 reviewed p.F1168L 1.000 21 0% 14 50% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_INTEGRIN_ALPHA ITGA2 3673 genome.wustl.edu 37 5 52386365 52386365 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002203.3 +1 reviewed p.R1161I 1.000 110 0% 71 22.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Integrin_alpha,PatternScan_INTEGRIN_ALPHA FST 10468 genome.wustl.edu 37 5 52780941 52780941 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013409.1 +1 reviewed p.S279L 1.000 190 0% 171 27.5% 0 - benign(0.024) tolerated(0.33) neutral(0.025) HMMPfam_Kazal_1,HMMSmart_SM00280,superfamily_Kazal-type serine protease inhibitors ARL15 54622 genome.wustl.edu 37 5 53409128 53409128 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019087.2 -1 validated p.E122 1.000 137 0% 68 22.1% 3 0% - - - HMMPfam_Arf,superfamily_SSF52540 ARL15 54622 genome.wustl.edu 37 5 53409222 53409222 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019087.2 -1 validated p.K91R 1.000 113 0% 80 21.2% 3 0% probably_damaging(0.973) tolerated(0.07) deleterious(0.734) HMMPfam_Arf,superfamily_SSF52540 SNX18 112574 genome.wustl.edu 37 5 53839108 53839108 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001102575.1 +1 reviewed p.S574Y 1.000 167 0% 117 28.2% 5 20% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_BAR_3_WASP_bdg GZMA 3001 genome.wustl.edu 37 5 54401341 54401341 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006144.3 +1 reviewed p.P37H 1.000 160 0% 144 20.1% 17 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases SKIV2L2 23517 genome.wustl.edu 37 5 54674269 54674269 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015360.4 +1 validated p.K646 1.000 201 0% 132 23.5% 5 40% - - - NULL SLC38A9 153129 genome.wustl.edu 37 5 54952599 54952599 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173514.2 -1 validated p.F234C 1.000 58 1.7% 71 36.6% 0 - probably_damaging(0.991) tolerated(0.17) deleterious(0.503) NULL SLC38A9 153129 genome.wustl.edu 37 5 54960545 54960545 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173514.2 -1 validated p.F225V 1.000 109 0% 110 23.6% 0 - benign(0.411) deleterious(0.01) deleterious(0.538) NULL DDX4 54514 genome.wustl.edu 37 5 55094391 55094391 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024415.2 +1 validated p.R536Q 0.799 372 0% 295 21.4% 0 - possibly_damaging(0.435) tolerated(0.95) neutral(0.142) superfamily_P-loop containing nucleoside triphosphate hydrolases IL6ST 3572 genome.wustl.edu 37 5 55247856 55247856 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002184.2 -1 reviewed p.E534K 1.000 124 0% 115 27.8% 0 - benign(0.404) tolerated(0.13) neutral(0.383) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MAP3K1 4214 genome.wustl.edu 37 5 56160592 56160592 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005921.1 +1 validated p.R289I 1.000 187 0% 153 11.1% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL MAP3K1 4214 genome.wustl.edu 37 5 56180520 56180520 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005921.1 +1 validated p.E1283D 1.000 100 0% 56 30.4% 0 - benign(0.066) deleterious(0.04) neutral(0.353) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase SETD9 133383 genome.wustl.edu 37 5 56207251 56207251 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153706.3 +1 validated p.K118N 0.732 194 0% 144 16% 1 0% benign(0.004) tolerated(0.31) neutral(0.027) NULL MIER3 166968 genome.wustl.edu 37 5 56233420 56233420 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152622.3 -1 validated p.P141S 1.000 93 0% 88 37.5% 0 - probably_damaging(0.959) tolerated(0.06) deleterious(0.725) NULL ACTBL2 345651 genome.wustl.edu 37 5 56778291 56778291 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001017992.2 -1 validated p.D82N 1.000 66 0% 87 37.9% 0 - benign(0.332) - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain PLK2 10769 genome.wustl.edu 37 5 57751900 57751900 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006622.2 -1 validated p.R446Q 1.000 80 0% 63 34.9% 76 40.7% possibly_damaging(0.861) tolerated(0.23) neutral(0.374) NULL PDE4D 5144 genome.wustl.edu 37 5 58272188 58272188 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001104631.1 -1 validated p.D607N 1.000 96 0% 53 18.9% 1 0% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_PDEase_I,superfamily_HD-domain/PDEase-like PDE4D 5144 genome.wustl.edu 37 5 58481063 58481063 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001104631.1 -1 validated p.R237Q 1.000 78 0% 76 18.4% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL KIF2A 3796 genome.wustl.edu 37 5 61668358 61668358 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098511.1 +1 validated p.D580 1.000 70 0% 59 18.6% 0 - - - - NULL HTR1A 3350 genome.wustl.edu 37 5 63256583 63256583 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000524.2 -1 validated p.E322K 1.000 76 1.3% 73 35.6% 0 - benign(0.005) deleterious(0.04) neutral(0.349) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PPWD1 23398 genome.wustl.edu 37 5 64881996 64881996 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015342.2 +1 validated p.T595 0.973 233 0% 166 16.3% 13 7.6% - - - HMMPfam_Pro_isomerase,superfamily_CSA_PPIase C5orf44 80006 genome.wustl.edu 37 5 64956680 64956680 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001093755.1 +1 validated p.L285I 1.000 102 0% 101 25.7% 5 0% possibly_damaging(0.531) tolerated(0.13) neutral(0.431) HMMPfam_DUF974 NLN 57486 genome.wustl.edu 37 5 65088600 65088600 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000506539 +1 known p.F549V 0.001 48 0% 38 42.1% 0 - - - - HMMPfam_Peptidase_M3 ERBB2IP 55914 genome.wustl.edu 37 5 65288560 65288560 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018695.2 +1 reviewed p.R5Q 1.000 275 0% 251 21.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ERBB2IP 55914 genome.wustl.edu 37 5 65338985 65338985 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018695.2 +1 reviewed p.E463* 1.000 240 0% 138 26.8% 0 - - - - NULL SREK1 140890 genome.wustl.edu 37 5 65470845 65470845 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001077199.1 +1 validated p.S519Y 1.000 122 0% 101 24.8% 6 33.3% probably_damaging(0.976) deleterious(0.05) deleterious(0.763) NULL SREK1 140890 genome.wustl.edu 37 5 65473395 65473395 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001077199.1 +1 validated p.R545I 1.000 437 0% 265 23% 3 0% possibly_damaging(0.847) deleterious(0) deleterious(0.770) NULL PIK3R1 5295 genome.wustl.edu 37 5 67576546 67576546 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181523.1 +1 reviewed p.F275L 1.000 134 0% 170 29.4% 0 - benign(0) tolerated(0.65) neutral(0.003) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP PIK3R1 5295 genome.wustl.edu 37 5 67586619 67586619 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181504.2 +1 reviewed p.N21 1.000 104 0% 90 22.2% 4 75% - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67589618 67589618 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181523.1 +1 reviewed p.R461* 0.484 125 0% 95 37.9% 2 50% - - - NULL CCDC125 202243 genome.wustl.edu 37 5 68602702 68602702 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176816.3 -1 validated p.E187* 0.973 106 0% 102 31.4% 0 - - - - NULL BDP1 55814 genome.wustl.edu 37 5 70785437 70785437 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018429.2 +1 reviewed p.E474* 0.002 238 0% 210 15.7% 0 - - - - NULL BDP1 55814 genome.wustl.edu 37 5 70806781 70806781 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018429.2 +1 reviewed p.E1288K 0.001 364 0% 395 27.3% 0 - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) NULL BDP1 55814 genome.wustl.edu 37 5 70858142 70858142 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018429.2 +1 reviewed p.S2513* 0.999 207 0% 183 25.1% 0 - - - - NULL MAP1B 4131 genome.wustl.edu 37 5 71490164 71490164 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005909.3 +1 validated p.I328F 0.964 294 0% 271 27.7% 0 - benign(0.045) deleterious(0.01) neutral(0.408) NULL MAP1B 4131 genome.wustl.edu 37 5 71492025 71492025 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005909.3 +1 validated p.T948I 1.000 225 0% 227 21.1% 0 - unknown(0) tolerated(0.1) - NULL MAP1B 4131 genome.wustl.edu 37 5 71493884 71493884 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005909.3 +1 validated p.D1568N 1.000 321 0% 340 14.7% 0 - unknown(0) deleterious(0.05) - NULL TNPO1 3842 genome.wustl.edu 37 5 72189471 72189471 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002270.3 +1 reviewed p.S695Y 1.000 235 0% 198 26.3% 11 0% possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_HEAT,superfamily_ARM repeat ENC1 8507 genome.wustl.edu 37 5 73931356 73931356 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003633.2 -1 validated p.E319* 1.000 101 0% 130 23.8% 5 20% - - - HMMSmart_SM00612,superfamily_Galactose oxidase central domain ENC1 8507 genome.wustl.edu 37 5 73932196 73932196 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003633.2 -1 validated p.L39V 0.391 37 0% 62 27.4% 8 12.5% possibly_damaging(0.787) deleterious(0.02) deleterious(0.677) superfamily_POZ domain,HMMPfam_BTB FAM169A 26049 genome.wustl.edu 37 5 74096797 74096797 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015566.1 -1 validated p.K337N 1.000 295 0% 204 22.5% 0 - probably_damaging(0.992) tolerated(0.17) deleterious(0.506) NULL GCNT4 51301 genome.wustl.edu 37 5 74324606 74324606 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016591.2 -1 validated p.I419 0.871 219 0% 208 38% 0 - - - - NULL HMGCR 3156 genome.wustl.edu 37 5 74638555 74638555 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000859.2 +1 reviewed p.K42T 1.000 99 0% 101 29.7% 6 66.6% benign(0.025) tolerated(0.46) neutral(0.013) NULL HMGCR 3156 genome.wustl.edu 37 5 74646188 74646188 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000859.2 +1 reviewed p.K257E 1.000 144 0% 155 33.5% 1 100% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL HMGCR 3156 genome.wustl.edu 37 5 74646732 74646732 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000859.2 +1 reviewed p.R300I 1.000 197 0% 179 30.7% 2 100% probably_damaging(0.996) tolerated(0.16) deleterious(0.521) NULL POLK 51426 genome.wustl.edu 37 5 74892498 74892498 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016218.2 +1 validated p.S660 0.000 222 0% 240 32.1% 3 33.3% - - - NULL IQGAP2 10788 genome.wustl.edu 37 5 75960885 75960885 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006633.2 +1 validated p.K855T 1.000 194 0% 186 25.8% 0 - probably_damaging(0.988) deleterious(0.03) deleterious(0.802) NULL IQGAP2 10788 genome.wustl.edu 37 5 75993818 75993818 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006633.2 +1 validated p.R1405 1.000 88 0% 91 25.3% 2 100% - - - HMMPfam_RasGAP_C F2RL1 2150 genome.wustl.edu 37 5 76129182 76129182 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005242.4 +1 validated p.V250 1.000 106 0% 213 23.5% 18 50% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like S100Z 170591 genome.wustl.edu 37 5 76171225 76171225 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130772.3 +1 validated p.R14I 0.620 30 0% 51 11.8% 0 - benign(0.119) tolerated(0.18) neutral(0.066) HMMPfam_S_100,superfamily_EF-hand S100Z 170591 genome.wustl.edu 37 5 76173582 76173582 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130772.3 +1 validated p.F75L 0.476 75 0% 68 23.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_S100_CABP,HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand AGGF1 55109 genome.wustl.edu 37 5 76335460 76335460 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018046.3 +1 validated p.P262 0.966 44 0% 52 11.5% 1 0% - - - NULL PDE8B 8622 genome.wustl.edu 37 5 76721592 76721592 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003719.2 +1 validated p.T807P 1.000 299 0% 222 34.7% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PDEase_I,superfamily_HD-domain/PDEase-like AP3B1 8546 genome.wustl.edu 37 5 77334942 77334942 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003664.3 -1 reviewed p.R912* 0.421 216 0% 183 31.7% 2 0% - - - NULL HOMER1 9456 genome.wustl.edu 37 5 78693421 78693421 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004272.3 -1 validated p.V242L 1.000 343 0% 335 27.2% 1 0% possibly_damaging(0.61) tolerated(0.52) neutral(0.220) NULL HOMER1 9456 genome.wustl.edu 37 5 78742962 78742962 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004272.3 -1 validated p.E101* 1.000 117 0% 84 25% 0 - - - - HMMPfam_WH1,HMMSmart_SM00461,superfamily_PH domain-like PAPD4 167153 genome.wustl.edu 37 5 78977843 78977843 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001114393.1 +1 validated p.E447K 1.000 78 0% 82 39% 4 0% benign(0.156) deleterious(0.01) neutral(0.420) superfamily_PAP/OAS1 substrate-binding domain CMYA5 202333 genome.wustl.edu 37 5 79025892 79025892 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153610.3 +1 validated p.S435Y 0.075 566 0% 546 32.1% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL CMYA5 202333 genome.wustl.edu 37 5 79033561 79033561 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153610.3 +1 validated p.L2991 0.000 400 0% 300 28% 0 - - - - NULL THBS4 7060 genome.wustl.edu 37 5 79361257 79361257 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003248.4 +1 reviewed p.R384Q 0.009 207 0% 193 25.4% 1 0% benign(0.001) tolerated(0.45) neutral(0.012) HMMSmart_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 SPZ1 84654 genome.wustl.edu 37 5 79616257 79616257 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032567.3 +1 validated p.E75* 0.358 287 0% 335 29.6% 0 - - - - NULL SPZ1 84654 genome.wustl.edu 37 5 79616454 79616454 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032567.3 +1 validated p.K140N 0.001 328 0% 332 22.6% 0 - unknown(0) tolerated(0.32) - NULL SPZ1 84654 genome.wustl.edu 37 5 79616534 79616534 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032567.3 +1 validated p.I167T 0.001 291 0% 298 27.2% 0 - unknown(0) tolerated(0.67) - NULL SPZ1 84654 genome.wustl.edu 37 5 79616698 79616698 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032567.3 +1 validated p.E222K 0.000 196 0% 182 29.1% 0 - probably_damaging(0.959) tolerated(0.15) deleterious(0.643) NULL ZFYVE16 9765 genome.wustl.edu 37 5 79747438 79747438 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105251.1 +1 validated p.L1173I 1.000 258 0% 149 23.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RASGRF2 5924 genome.wustl.edu 37 5 80382720 80382720 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006909.1 +1 validated p.I446 0.956 160 0% 156 27.6% 0 - - - - superfamily_DBL homology domain (DH-domain),superfamily_PH domain-like ACOT12 134526 genome.wustl.edu 37 5 80655779 80655779 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130767.2 -1 validated p.R147* 0.994 130 0% 91 20.9% 0 - - - - NULL ATP6AP1L 92270 genome.wustl.edu 37 5 81614013 81614013 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001017971.1 +1 provisional p.S190L 0.027 117 0% 100 41% 7 57.1% benign(0.009) deleterious(0.01) neutral(0.406) NULL VCAN 1462 genome.wustl.edu 37 5 82815724 82815724 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004385.4 +1 reviewed p.K533N 0.006 309 0% 243 31.7% 0 - benign(0.273) deleterious(0.03) neutral(0.394) NULL VCAN 1462 genome.wustl.edu 37 5 82816288 82816288 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004385.4 +1 reviewed p.F721L 1.000 185 0% 165 24.8% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL VCAN 1462 genome.wustl.edu 37 5 82841395 82841395 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004385.4 +1 reviewed p.G3102D 1.000 347 0% 215 27.4% 22 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin VCAN 1462 genome.wustl.edu 37 5 82876014 82876014 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000421036 +1 known p.C3366R 0.963 185 0% 162 29.6% 10 0% - - - NULL HAPLN1 1404 genome.wustl.edu 37 5 82937400 82937400 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001884.3 -1 validated p.P327H 0.998 158 0% 97 24.7% 12 0% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_Xlink,HMMSmart_SM00445,superfamily_C-type lectin-like RASA1 5921 genome.wustl.edu 37 5 86649005 86649005 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002890.1 +1 reviewed p.E429* 1.000 115 0% 96 25% 0 - - - - HMMSmart_SM00252,superfamily_SH2 domain MEF2C 4208 genome.wustl.edu 37 5 88018519 88018519 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002397.3 -1 validated p.E442* 1.000 133 0% 147 30.6% 4 0% - - - NULL POLR3G 10622 genome.wustl.edu 37 5 89807934 89807934 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006467.2 +1 validated p.N217T 1.000 146 0% 137 17.5% 0 - unknown(0) deleterious(0) - NULL GPR98 84059 genome.wustl.edu 37 5 89923146 89923146 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032119.3 +1 reviewed p.R264I 1.000 187 0% 190 21.6% 0 - possibly_damaging(0.872) tolerated(0.09) deleterious(0.635) NULL GPR98 84059 genome.wustl.edu 37 5 89940541 89940541 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032119.3 +1 reviewed p.R918I 1.000 384 0% 307 28.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00237 GPR98 84059 genome.wustl.edu 37 5 89986685 89986685 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032119.3 +1 reviewed p.R2260* 1.000 57 0% 64 29.7% 0 - - - - HMMSmart_SM00237 GPR98 84059 genome.wustl.edu 37 5 90072290 90072290 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032119.3 +1 reviewed p.R4142W 0.052 55 0% 51 33.3% 0 - probably_damaging(0.992) deleterious(0.05) deleterious(0.793) NULL GPR98 84059 genome.wustl.edu 37 5 90074406 90074406 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032119.3 +1 reviewed p.R4277* 0.229 102 0% 115 20.9% 0 - - - - HMMPfam_Calx-beta,HMMSmart_SM00237 GPR98 84059 genome.wustl.edu 37 5 90079798 90079798 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032119.3 +1 reviewed p.S4526Y 0.962 70 0% 80 22.5% 0 - possibly_damaging(0.654) tolerated(0.88) neutral(0.230) NULL GPR98 84059 genome.wustl.edu 37 5 90107058 90107058 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032119.3 +1 reviewed p.F5327L 0.993 65 0% 52 34.6% 0 - benign(0) tolerated(0.79) neutral(0.001) HMMPfam_Calx-beta NR2F1 7025 genome.wustl.edu 37 5 92921161 92921161 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005654.4 +1 provisional p.K144N 1.000 21 0% 28 28.6% 19 42.1% benign(0.061) deleterious(0.02) neutral(0.387) HMMPfam_zf-C4,HMMSmart_ZnF_C4,superfamily_Str_ncl_receptor,superfamily_SSF57716 MCTP1 79772 genome.wustl.edu 37 5 94207064 94207064 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024717.4 -1 validated p.R699* 1.000 77 0% 79 17.7% 3 0% - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) TTC37 9652 genome.wustl.edu 37 5 94805499 94805499 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014639.2 -1 provisional p.R1494H 0.988 317 0% 200 21% 20 30% probably_damaging(0.965) tolerated(0.16) neutral(0.466) NULL GLRX 2745 genome.wustl.edu 37 5 95152323 95152323 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001118890.1 -1 validated p.R72Q 0.992 122 0% 141 22.7% 29 13.7% possibly_damaging(0.455) tolerated(0.08) neutral(0.449) HMMPfam_Glutaredoxin,superfamily_Thioredoxin-like ELL2 22936 genome.wustl.edu 37 5 95226945 95226945 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000508757 -1 known p.A59V 1.000 277 0% 167 23.4% 0 - - - - HMMPfam_Occludin_ELL PCSK1 5122 genome.wustl.edu 37 5 95764936 95764936 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000439.4 -1 reviewed p.R89I 1.000 174 0% 179 33% 0 - benign(0.361) deleterious(0.01) deleterious(0.520) superfamily_Prot_inh_propept CAST 831 genome.wustl.edu 37 5 96076486 96076486 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000512620 +1 known p.R240* 0.001 397 0% 237 17.7% 19 36.8% benign(0) tolerated(0.27) neutral(0.034) HMMPfam_Calpain_inhib ERAP2 64167 genome.wustl.edu 37 5 96222375 96222375 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130140.1 +1 validated p.L244R 0.245 151 0% 138 17.4% 0 - benign(0.008) tolerated(0.22) neutral(0.042) HMMPfam_Peptidase_M1,superfamily_Leukotriene A4 hydrolase N-terminal domain LIX1 167410 genome.wustl.edu 37 5 96443064 96443064 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153234.4 -1 validated p.S129 0.121 274 0% 238 29.8% 0 - - - - NULL CHD1 1105 genome.wustl.edu 37 5 98193950 98193950 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001270.2 -1 reviewed p.R1574I 1.000 371 0% 267 25.5% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL CHD1 1105 genome.wustl.edu 37 5 98199284 98199284 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001270.2 -1 reviewed p.E1419* 1.000 87 0% 67 11.9% 1 100% - - - NULL SLCO4C1 353189 genome.wustl.edu 37 5 101575050 101575050 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_180991.4 -1 validated p.S640I 1.000 186 0% 117 33.3% 0 - possibly_damaging(0.598) tolerated(0.19) neutral(0.257) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO6A1 133482 genome.wustl.edu 37 5 101834189 101834189 + Splice_Site SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173488.3 -1 validated e1+2 0.996 64 0% 54 31.5% 0 - - - - - SLCO6A1 133482 genome.wustl.edu 37 5 101834311 101834311 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173488.3 -1 validated p.E80* 0.000 151 0% 154 19.5% 0 - - - - NULL SLCO6A1 133482 genome.wustl.edu 37 5 101834394 101834394 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173488.3 -1 validated p.R52I 0.000 196 0% 183 37.7% 0 - possibly_damaging(0.8) deleterious(0.04) deleterious(0.650) NULL PAM 5066 genome.wustl.edu 37 5 102309841 102309841 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000919.3 +1 reviewed p.S395F 1.000 146 0% 139 28.1% 6 83.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC134505 134505 genome.wustl.edu 37 5 102368683 102368683 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002342545.1 +1 model p.V167A 1.000 37 0% 30 23.3% 0 - - - - "superfamily_""Winged helix"" DNA-binding domain" NUDT12 83594 genome.wustl.edu 37 5 102894639 102894639 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031438.2 -1 validated p.N246T 1.000 112 0% 104 26.9% 1 0% benign(0.001) tolerated(0.62) neutral(0.004) HMMPfam_NUDIX-like FER 2241 genome.wustl.edu 37 5 108219116 108219116 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005246.2 +1 reviewed p.E315* 1.000 362 0% 285 23.9% 0 - - - - NULL MAN2A1 4124 genome.wustl.edu 37 5 109183456 109183456 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002372.2 +1 reviewed p.R981* 1.000 104 0% 116 31% 3 0% - - - superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C LOC100286926 100286926 genome.wustl.edu 37 5 110427980 110427980 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002342562.1 -1 model p.F85L 0.137 71 0% 65 30.8% 0 - - - - NULL WDR36 134430 genome.wustl.edu 37 5 110446632 110446632 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139281.2 +1 reviewed p.I585 0.029 183 0% 129 34.1% 2 50% - - - superfamily_WD40_like APC 324 genome.wustl.edu 37 5 112103071 112103071 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000038.4 +1 reviewed p.E136* 1.000 242 0% 189 22.8% 0 - - - - superfamily_ARM repeat APC 324 genome.wustl.edu 37 5 112173572 112173572 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000038.4 +1 reviewed p.E761* 0.998 133 0% 145 31.7% 0 - - - - NULL APC 324 genome.wustl.edu 37 5 112175921 112175921 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000038.4 +1 reviewed p.E1544* 1.000 333 0% 371 30.2% 1 0% - - - NULL APC 324 genome.wustl.edu 37 5 112177799 112177799 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000038.4 +1 reviewed p.P2170T 1.000 251 0.4% 300 24% 0 - probably_damaging(0.98) deleterious(0.02) deleterious(0.807) NULL ZRSR1 7310 genome.wustl.edu 37 5 112227934 112227934 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000391338 +1 known p.T200A 0.815 256 0% 270 23.7% 0 - benign(0.123) tolerated(0.75) neutral(0.011) NULL DCP2 167227 genome.wustl.edu 37 5 112337142 112337142 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152624.4 +1 validated p.F225C 1.000 212 0% 186 25.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Nudix CCDC112 153733 genome.wustl.edu 37 5 114607180 114607180 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040440.2 -1 validated p.Q354H 0.999 314 0% 258 30.6% 4 50% possibly_damaging(0.822) tolerated(0.12) deleterious(0.572) NULL SEMA6A 57556 genome.wustl.edu 37 5 115782595 115782595 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000515129 -1 known p.E451* 1.000 104 0% 93 31.2% 0 - possibly_damaging(0.91) deleterious(0.01) deleterious(0.768) NULL DMXL1 1657 genome.wustl.edu 37 5 118470057 118470057 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005509.4 +1 validated p.L783 0.787 331 0% 248 29.8% 0 - - - - superfamily_WD40 repeat-like DMXL1 1657 genome.wustl.edu 37 5 118485124 118485124 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005509.4 +1 validated p.R1201Q 1.000 394 0% 336 33.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DMXL1 1657 genome.wustl.edu 37 5 118485540 118485540 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005509.4 +1 validated p.R1340W 1.000 200 0% 149 23.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TNFAIP8 25816 genome.wustl.edu 37 5 118728739 118728739 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014350.2 +1 validated p.R87M 1.000 102 0% 116 31% 3 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF758 HSD17B4 3295 genome.wustl.edu 37 5 118832237 118832237 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000414.2 +1 reviewed e12-1 0.999 240 0% 169 32.5% 0 - - - - - SNCAIP 9627 genome.wustl.edu 37 5 121786808 121786808 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005460.2 +1 reviewed p.E756K 0.994 112 0% 91 30.8% 19 26.3% benign(0.408) deleterious(0) deleterious(0.577) NULL SNCAIP 9627 genome.wustl.edu 37 5 121799256 121799256 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000261367 +1 known p.E1013* 1.000 82 0% 118 11% 1 0% - - - NULL MEGF10 84466 genome.wustl.edu 37 5 126791225 126791225 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032446.2 +1 validated p.S1053L 1.000 169 0% 189 23.3% 0 - possibly_damaging(0.786) deleterious(0) deleterious(0.739) NULL FBN2 2201 genome.wustl.edu 37 5 127637081 127637081 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001999.3 -1 reviewed p.N2013 1.000 160 0% 114 21.1% 0 - - - - HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin FBN2 2201 genome.wustl.edu 37 5 127681271 127681271 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001999.3 -1 reviewed p.R999C 1.000 179 0% 190 26.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases FBN2 2201 genome.wustl.edu 37 5 127685655 127685655 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001999.3 -1 reviewed p.T952M 0.020 121 0% 73 30.1% 0 - possibly_damaging(0.643) tolerated(0.14) deleterious(0.475) superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases FBN2 2201 genome.wustl.edu 37 5 127713525 127713525 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001999.3 -1 reviewed p.R590Q 1.000 261 0% 269 11.2% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN2 2201 genome.wustl.edu 37 5 127800598 127800598 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001999.3 -1 reviewed p.P215 0.097 93 0% 98 30.6% 2 50% - - - superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases CHSY3 337876 genome.wustl.edu 37 5 129244019 129244019 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175856.4 +1 validated p.R351H 0.993 55 0% 53 32.1% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_CHGN RAPGEF6 51735 genome.wustl.edu 37 5 130788825 130788825 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016340.5 -1 validated p.R1041I 1.000 118 0% 127 31.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF FNIP1 96459 genome.wustl.edu 37 5 131006311 131006311 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133372.2 -1 validated p.E985K 1.000 427 0% 387 20.7% 5 60% possibly_damaging(0.759) tolerated(0.2) neutral(0.330) NULL FNIP1 96459 genome.wustl.edu 37 5 131014836 131014836 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133372.2 -1 validated p.R412Q 1.000 153 0% 117 28.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ACSL6 23305 genome.wustl.edu 37 5 131298255 131298255 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001009185.1 -1 validated p.Q610H 0.990 162 0% 183 24% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,superfamily_SSF56801 ACSL6 23305 genome.wustl.edu 37 5 131298297 131298297 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001009185.1 -1 validated p.E596D 1.000 160 0% 178 25.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,superfamily_SSF56801 P4HA2 8974 genome.wustl.edu 37 5 131543487 131543487 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142599.1 -1 reviewed p.E332K 1.000 49 0% 33 42.4% 162 51.2% probably_damaging(0.973) tolerated(0.57) neutral(0.421) NULL SLC22A5 6584 genome.wustl.edu 37 5 131719863 131719863 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003060.3 +1 reviewed p.F174 0.997 165 0% 217 35.9% 3 66.6% - - - PatternScan_SUGAR_TRANSPORT_1,HMMPfam_MFS_1,superfamily_MFS general substrate transporter IL5 3567 genome.wustl.edu 37 5 131879049 131879049 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000879.2 -1 reviewed p.R41Q 0.000 171 0.6% 163 28.8% 0 - benign(0.031) tolerated(0.09) neutral(0.298) HMMPfam_IL5,superfamily_4_helix_cytokine RAD50 10111 genome.wustl.edu 37 5 131927602 131927602 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005732.3 +1 reviewed p.S557P 1.000 231 0% 218 26.6% 0 - probably_damaging(0.955) tolerated(0.09) deleterious(0.695) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases RAD50 10111 genome.wustl.edu 37 5 131927603 131927603 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005732.3 +1 reviewed p.S557Y 1.000 234 0% 224 25.4% 0 - benign(0.009) deleterious(0.03) neutral(0.365) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases RAD50 10111 genome.wustl.edu 37 5 131953874 131953874 + Nonsense_Mutation SNP C C T rs121912628 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005732.3 +1 reviewed p.R1093* 0.990 533 0% 434 34.1% 2 0% - - - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases RAD50 10111 genome.wustl.edu 37 5 131977997 131977997 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005732.3 +1 reviewed p.D1294N 0.995 118 0% 132 25% 5 0% benign(0.183) tolerated(0.5) neutral(0.027) HMMPfam_SMC_N IL4 3565 genome.wustl.edu 37 5 132010163 132010163 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000589.2 +1 reviewed p.E50K 0.015 86 0% 90 23.3% 0 - benign(0) tolerated(0.23) neutral(0.042) HMMSmart_SM00190,HMMPfam_IL4,superfamily_4-helical cytokines,PatternScan_INTERLEUKIN_4_13 AFF4 27125 genome.wustl.edu 37 5 132222064 132222064 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014423.3 -1 validated p.L1013 0.981 53 0% 61 11.5% 1 0% - - - HMMPfam_AF-4 PPP2CA 5515 genome.wustl.edu 37 5 133537682 133537682 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002715.2 -1 reviewed p.R115* 1.000 111 0% 113 26.5% 40 7.5% - - - HMMPfam_Metallophos,HMMSmart_SM00156,PatternScan_SER_THR_PHOSPHATASE,superfamily_Metallo-dependent phosphatases CDKL3 51265 genome.wustl.edu 37 5 133644107 133644107 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001113575.1 -1 reviewed p.K362N 0.998 107 0% 88 26.1% 0 - possibly_damaging(0.697) tolerated(0.1) deleterious(0.536) NULL UBE2B 7320 genome.wustl.edu 37 5 133716430 133716430 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003337.2 +1 reviewed p.E58* 1.000 44 0% 28 25% 4 0% - - - HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like CAMLG 819 genome.wustl.edu 37 5 134077130 134077130 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001745.2 +1 reviewed p.E184* 1.000 121 0% 131 23.7% 12 0% - - - NULL DDX46 9879 genome.wustl.edu 37 5 134130542 134130542 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014829.2 +1 reviewed p.V543 0.979 336 0% 287 17.8% 13 7.6% - - - HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 TGFBI 7045 genome.wustl.edu 37 5 135398900 135398900 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000514554 +1 known p.E362K 1.000 66 0% 41 24.4% 193 31% - - - NULL SMAD5 4090 genome.wustl.edu 37 5 135508374 135508374 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000507637 +1 known p.R165Q 0.159 89 0% 110 31.8% 1 0% possibly_damaging(0.662) deleterious(0) deleterious(0.678) HMMPfam_MH2,HMMSmart_SM00524 SPOCK1 6695 genome.wustl.edu 37 5 136328224 136328224 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004598.3 -1 reviewed p.E219K 0.988 197 0% 111 20.7% 0 - benign(0.271) tolerated(0.17) neutral(0.088) HMMPfam_SPARC_Ca_bdg,superfamily_SSF47473 KLHL3 26249 genome.wustl.edu 37 5 136963985 136963985 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017415.2 -1 validated e13+1 1.000 195 0% 180 23.3% 0 - - - - - KLHL3 26249 genome.wustl.edu 37 5 137034000 137034000 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017415.2 -1 validated p.I113 0.516 313 0% 248 30.6% 0 - - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB PKD2L2 27039 genome.wustl.edu 37 5 137230127 137230127 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014386.2 +1 validated p.R118H 0.996 203 0% 192 33.3% 0 - benign(0.016) tolerated(0.47) neutral(0.011) HMMPfam_PKD_channel PKD2L2 27039 genome.wustl.edu 37 5 137261580 137261580 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014386.2 +1 validated p.L545 0.997 95 0% 68 17.6% 0 - - - - NULL NME5 8382 genome.wustl.edu 37 5 137451381 137451381 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003551.2 -1 validated p.E210* 1.000 127 0% 93 25.8% 2 50% - - - NULL BRD8 10902 genome.wustl.edu 37 5 137495826 137495826 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139199.1 -1 reviewed p.E822K 1.000 190 0% 220 17.3% 26 46.1% benign(0.158) deleterious(0.02) neutral(0.397) superfamily_Bromodomain KIF20A 10112 genome.wustl.edu 37 5 137515389 137515389 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005733.2 +1 validated p.S7Y 1.000 74 0% 75 29.3% 12 50% possibly_damaging(0.775) deleterious(0) deleterious(0.733) NULL GFRA3 2676 genome.wustl.edu 37 5 137593504 137593504 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001496.3 -1 reviewed p.F203L 1.000 16 0% 29 41.4% 2 0% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_GDNF CDC25C 995 genome.wustl.edu 37 5 137661570 137661570 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001790.3 -1 reviewed p.P131 0.047 138 0% 237 27.4% 2 50% - - - HMMPfam_M-inducer_phosp KDM3B 51780 genome.wustl.edu 37 5 137727375 137727375 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016604.3 +1 validated p.S685Y 0.984 111 0% 150 27.3% 1 0% possibly_damaging(0.861) deleterious(0.01) deleterious(0.739) NULL LRRTM2 26045 genome.wustl.edu 37 5 138208726 138208726 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015564.2 -1 validated p.Q508 1.000 318 0% 270 27.4% 0 - - - - NULL LRRTM2 26045 genome.wustl.edu 37 5 138208934 138208934 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015564.2 -1 validated p.F439C 1.000 338 0% 293 21.5% 0 - probably_damaging(0.957) deleterious(0) deleterious(0.845) NULL LRRTM2 26045 genome.wustl.edu 37 5 138209587 138209587 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015564.2 -1 validated p.N221K 1.000 559 0% 529 26.8% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like UBE2D2 7322 genome.wustl.edu 37 5 138994462 138994462 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003339.2 +1 reviewed p.R72I 1.000 165 0% 204 25.5% 153 34.6% possibly_damaging(0.617) deleterious(0) deleterious(0.659) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like UBE2D2 7322 genome.wustl.edu 37 5 139002988 139002988 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003339.2 +1 reviewed p.N114D 1.000 134 0% 186 18.8% 90 36.6% possibly_damaging(0.904) deleterious(0) deleterious(0.803) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like PSD2 84249 genome.wustl.edu 37 5 139216788 139216788 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032289.2 +1 provisional p.A544T 1.000 41 0% 44 31.8% 0 - benign(0.217) tolerated(0.08) neutral(0.322) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SLC4A9 83697 genome.wustl.edu 37 5 139741649 139741649 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031467.2 +1 validated p.G203 0.923 24 0% 36 13.9% 0 - - - - HMMPfam_Band_3_cyto,superfamily_PTrfase/Anion_transptr ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139892978 139892978 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020690.4 +1 reviewed p.E1411K 1.000 100 0% 103 27.2% 6 16.6% benign(0.224) tolerated(0.33) neutral(0.046) NULL ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139918528 139918528 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020690.4 +1 reviewed p.G2477C 1.000 229 0% 165 27.3% 39 48.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IK 3550 genome.wustl.edu 37 5 140034285 140034285 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006083.3 +1 reviewed p.N204H 1.000 58 0% 68 25% 6 66.6% benign(0.006) deleterious(0.02) neutral(0.383) HMMPfam_RED_N IK 3550 genome.wustl.edu 37 5 140038338 140038338 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006083.3 +1 reviewed p.K309N 1.000 32 0% 36 33.3% 59 27.1% possibly_damaging(0.679) tolerated(0.28) neutral(0.273) NULL HARS2 23438 genome.wustl.edu 37 5 140078096 140078096 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012208.2 +1 reviewed p.N494H 0.976 448 0% 461 14.1% 10 50% benign(0.041) deleterious(0.01) neutral(0.408) HMMPfam_HGTP_anticodon,superfamily_Anticodon_bd PCDHA1 56147 genome.wustl.edu 37 5 140166750 140166750 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018900.2 +1 reviewed p.K292T 0.012 152 0% 109 30.3% 0 - benign(0) tolerated(0.28) neutral(0.032) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA6 56142 genome.wustl.edu 37 5 140208322 140208322 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018909.2 +1 reviewed p.D216Y 1.000 120 0% 135 26.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA6 56142 genome.wustl.edu 37 5 140209607 140209607 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018909.2 +1 reviewed p.R644H 0.009 24 0% 41 31.7% 0 - benign(0.186) tolerated(0.1) neutral(0.304) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA8 56140 genome.wustl.edu 37 5 140221031 140221031 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018911.2 +1 reviewed p.G42V 1.000 48 0% 44 25% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHA8 56140 genome.wustl.edu 37 5 140221663 140221663 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018911.2 +1 reviewed p.E253K 1.000 85 0% 101 18.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHA8 56140 genome.wustl.edu 37 5 140221953 140221953 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018911.2 +1 reviewed p.E349D 0.832 161 0% 205 22.9% 0 - benign(0.041) tolerated(0.07) neutral(0.322) superfamily_Cadherin-like PCDHA8 56140 genome.wustl.edu 37 5 140222284 140222284 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018911.2 +1 reviewed p.Y460H 0.530 32 0% 44 31.8% 0 - benign(0.185) deleterious(0) neutral(0.462) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHA8 56140 genome.wustl.edu 37 5 140222364 140222364 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018911.2 +1 reviewed p.E486D 0.983 35 0% 47 31.9% 0 - benign(0.336) deleterious(0.03) deleterious(0.470) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA9 9752 genome.wustl.edu 37 5 140228351 140228351 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031857.1 +1 reviewed p.D91N 1.000 103 0% 125 25.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHA9 9752 genome.wustl.edu 37 5 140228687 140228687 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031857.1 +1 reviewed p.E203* 1.000 134 0% 115 14.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA10 56139 genome.wustl.edu 37 5 140236635 140236635 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018901.2 +1 reviewed p.T334 0.003 79 0% 47 19.1% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA11 56138 genome.wustl.edu 37 5 140249007 140249007 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018902.3 +1 reviewed p.E107* 1.000 109 0% 76 27.6% 0 - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHA11 56138 genome.wustl.edu 37 5 140249212 140249212 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018902.3 +1 reviewed p.N175T 0.995 126 0% 92 30.4% 0 - benign(0.015) tolerated(0.08) neutral(0.300) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA11 56138 genome.wustl.edu 37 5 140249586 140249586 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018902.3 +1 reviewed p.E300* 1.000 59 0% 33 18.2% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA13 56136 genome.wustl.edu 37 5 140262910 140262910 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018904.2 +1 reviewed p.T353P 0.861 185 0% 118 29.7% 0 - possibly_damaging(0.761) deleterious(0) deleterious(0.726) superfamily_Cadherin-like PCDHAC1 56135 genome.wustl.edu 37 5 140308268 140308268 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018898.3 +1 reviewed p.S597 1.000 160 0% 141 41.1% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHAC2 56134 genome.wustl.edu 37 5 140348138 140348138 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018899.5 +1 reviewed p.R596Q 1.000 101 0% 67 28.4% 0 - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) superfamily_Cadherin-like PCDHAC2 56134 genome.wustl.edu 37 5 140358579 140358579 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018899.5 +1 reviewed p.A871S 1.000 95 0% 96 31.2% 1 0% probably_damaging(1) tolerated(0.29) deleterious(0.529) NULL PCDHB2 56133 genome.wustl.edu 37 5 140476585 140476585 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018936.2 +1 reviewed p.Q737H 0.118 98 0% 115 21.7% 1 0% benign(0) tolerated(1) - NULL PCDHB3 56132 genome.wustl.edu 37 5 140481556 140481556 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018937.2 +1 reviewed p.V441 0.756 192 0% 171 32.2% 2 50% - - - HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHB4 56131 genome.wustl.edu 37 5 140502263 140502263 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018938.2 +1 reviewed p.R228Q 0.000 121 0% 145 26.2% 0 - benign(0.068) tolerated(0.35) neutral(0.025) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB4 56131 genome.wustl.edu 37 5 140503159 140503159 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018938.2 +1 reviewed p.E527K 0.930 80 0% 108 23.1% 1 0% possibly_damaging(0.87) tolerated(0.2) neutral(0.387) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB5 26167 genome.wustl.edu 37 5 140515314 140515314 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015669.2 +1 reviewed p.E100* 0.299 200 0% 237 24.1% 0 - - - - HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB5 26167 genome.wustl.edu 37 5 140517311 140517311 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015669.2 +1 reviewed p.F765L 0.072 204 0% 209 26.3% 0 - benign(0.047) deleterious(0.03) neutral(0.367) NULL PCDHB6 56130 genome.wustl.edu 37 5 140530376 140530376 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018939.2 +1 reviewed p.L180F 0.000 267 0% 353 20.1% 0 - possibly_damaging(0.822) tolerated(0.06) deleterious(0.633) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB7 56129 genome.wustl.edu 37 5 140553020 140553020 + Missense_Mutation SNP C C T rs113945814 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018940.2 +1 reviewed p.R202W 0.993 68 0% 96 24% 2 100% benign(0.056) deleterious(0.02) neutral(0.387) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB8 56128 genome.wustl.edu 37 5 140557693 140557693 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019120.2 +1 reviewed p.A26 0.000 211 0% 221 8.6% 0 - - - - NULL PCDHB10 56126 genome.wustl.edu 37 5 140573845 140573845 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018930.3 +1 reviewed p.E574K 0.988 31 0% 52 17.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cadherin PCDHB11 56125 genome.wustl.edu 37 5 140579401 140579401 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018931.2 +1 reviewed p.F18L 0.416 106 0% 96 26% 0 - possibly_damaging(0.625) tolerated(0.64) neutral(0.221) NULL PCDHB11 56125 genome.wustl.edu 37 5 140579519 140579519 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018931.2 +1 reviewed p.E58* 0.019 121 0% 129 32.6% 0 - - - - HMMSmart_CA,HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB11 56125 genome.wustl.edu 37 5 140579943 140579943 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018931.2 +1 reviewed p.A199V 0.000 162 0% 120 25.8% 0 - benign(0) tolerated(0.12) neutral(0.261) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB11 56125 genome.wustl.edu 37 5 140580305 140580305 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018931.2 +1 reviewed p.Q320K 0.930 167 0% 166 37.3% 0 - benign(0.006) tolerated(0.25) neutral(0.037) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB12 56124 genome.wustl.edu 37 5 140588741 140588741 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018932.3 +1 reviewed p.E88* 0.665 134 0% 115 30.4% 0 - - - - HMMSmart_CA,HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB14 56122 genome.wustl.edu 37 5 140603910 140603910 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018934.2 +1 reviewed p.S278Y 0.000 112 0% 108 33.3% 0 - benign(0.371) deleterious(0) deleterious(0.562) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB14 56122 genome.wustl.edu 37 5 140605331 140605331 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018934.2 +1 reviewed p.E752K 0.999 119 0% 115 27.8% 1 0% possibly_damaging(0.734) tolerated(0.27) neutral(0.302) NULL PCDHB14 56122 genome.wustl.edu 37 5 140605445 140605445 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018934.2 +1 reviewed p.R790* 0.001 104 0% 112 20.5% 1 100% - - - NULL PCDHB18 54660 genome.wustl.edu 37 5 140616303 140616303 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000274705 +1 known p.S673L 0.001 52 0% 60 36.7% 0 - - - - NULL PCDHB15 56121 genome.wustl.edu 37 5 140626387 140626387 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018935.2 +1 reviewed p.R414I 0.000 137 0% 128 10.2% 0 - benign(0.005) tolerated(0.36) neutral(0.020) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB15 56121 genome.wustl.edu 37 5 140626443 140626443 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018935.2 +1 reviewed p.T433S 0.014 154 0% 181 12.2% 2 0% probably_damaging(0.998) tolerated(0.2) deleterious(0.523) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHGA1 56114 genome.wustl.edu 37 5 140711178 140711178 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018912.2 +1 reviewed p.F309 0.877 144 0% 116 29.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA2 56113 genome.wustl.edu 37 5 140718605 140718605 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018915.2 +1 reviewed p.L23M 0.001 51 0% 46 26.1% 0 - possibly_damaging(0.828) tolerated(0.09) deleterious(0.611) HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA2 56113 genome.wustl.edu 37 5 140719174 140719174 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018915.2 +1 reviewed p.L212 0.005 119 0% 173 28.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA3 56112 genome.wustl.edu 37 5 140724856 140724856 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018916.3 +1 reviewed p.N419S 1.000 187 0% 204 30.4% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB1 56104 genome.wustl.edu 37 5 140731921 140731921 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018922.2 +1 reviewed p.L698 0.995 122 0% 120 25.8% 0 - - - - NULL PCDHGB1 56104 genome.wustl.edu 37 5 140731930 140731930 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018922.2 +1 reviewed p.L701 0.000 114 0% 121 26.4% 0 - - - - NULL PCDHGB1 56104 genome.wustl.edu 37 5 140732153 140732153 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018922.2 +1 reviewed p.L776M 1.000 52 0% 50 18% 0 - benign(0.057) tolerated(0.19) neutral(0.053) NULL PCDHGA4 56111 genome.wustl.edu 37 5 140736244 140736244 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018917.2 +1 reviewed p.E493K 0.937 230 0% 228 26.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA4 56111 genome.wustl.edu 37 5 140737156 140737156 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018917.2 +1 reviewed p.L797V 0.868 84 0% 97 20.6% 0 - - - - NULL PCDHGB2 56103 genome.wustl.edu 37 5 140742037 140742037 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018923.2 +1 reviewed p.D779Y 0.232 128 0% 130 20.8% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PCDHGA5 56110 genome.wustl.edu 37 5 140744763 140744763 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018918.2 +1 reviewed p.S289L 0.000 64 0% 59 33.9% 0 - benign(0.002) tolerated(0.35) neutral(0.021) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA5 56110 genome.wustl.edu 37 5 140746185 140746185 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018918.2 +1 reviewed p.S763L 1.000 131 0% 100 30% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PCDHGB3 56102 genome.wustl.edu 37 5 140751506 140751506 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018924.2 +1 reviewed p.F515 0.142 44 0% 48 37.5% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA6 56109 genome.wustl.edu 37 5 140754508 140754508 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018919.2 +1 reviewed p.E286D 0.659 81 0% 66 13.6% 0 - benign(0.001) tolerated(0.61) neutral(0.004) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA7 56108 genome.wustl.edu 37 5 140763001 140763001 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018920.2 +1 reviewed p.S179P 0.956 34 0% 28 14.3% 0 - possibly_damaging(0.952) tolerated(0.17) neutral(0.455) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA7 56108 genome.wustl.edu 37 5 140764854 140764854 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018920.2 +1 reviewed p.D796E 0.984 73 0% 74 24.3% 0 - benign(0.016) tolerated(0.34) neutral(0.024) NULL PCDHGB5 56101 genome.wustl.edu 37 5 140778867 140778867 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018925.2 +1 reviewed p.I391 0.000 79 0% 84 31% 1 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA10 56106 genome.wustl.edu 37 5 140792882 140792882 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018913.2 +1 reviewed p.S47F 0.998 75 0% 53 32.1% 0 - benign(0.085) tolerated(0.1) neutral(0.292) HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGB7 56099 genome.wustl.edu 37 5 140798405 140798405 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018927.2 +1 reviewed p.L327I 0.875 74 0% 61 31.1% 0 - possibly_damaging(0.886) deleterious(0.02) deleterious(0.730) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140801248 140801248 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018914.2 +1 reviewed p.R152* 0.144 53 0% 39 30.8% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140802373 140802373 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018914.2 +1 reviewed p.R527* 0.115 113 0% 97 21.6% 2 100% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA12 26025 genome.wustl.edu 37 5 140810726 140810726 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003735.2 +1 reviewed p.R134C 0.295 142 0% 170 29.4% 0 - possibly_damaging(0.72) tolerated(0.05) deleterious(0.607) superfamily_Cadherin-like PCDHGA12 26025 genome.wustl.edu 37 5 140812048 140812048 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003735.2 +1 reviewed p.G574 0.223 103 0% 131 31.3% 1 0% - - - superfamily_Cadherin-like PCDHGC4 56098 genome.wustl.edu 37 5 140866889 140866889 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018928.2 +1 reviewed p.R717C 0.916 148 0% 110 23.6% 0 - benign(0.069) deleterious(0) neutral(0.449) NULL ARAP3 64411 genome.wustl.edu 37 5 141044918 141044918 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022481.5 -1 reviewed p.P866T 1.000 256 0.4% 210 21.9% 0 - benign(0.01) tolerated(0.09) neutral(0.297) HMMSmart_PH,superfamily_SSF50729 PCDH1 5097 genome.wustl.edu 37 5 141248533 141248533 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032420.2 -1 reviewed p.F168 0.954 225 0% 305 23.9% 1 0% - - - superfamily_Cadherin PCDH12 51294 genome.wustl.edu 37 5 141329052 141329052 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016580.2 -1 reviewed p.L1025 1.000 164 0% 157 26.8% 9 0% - - - NULL RNF14 9604 genome.wustl.edu 37 5 141358266 141358266 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004290.3 +1 reviewed p.F235L 0.997 142 0% 181 29.8% 14 78.5% benign(0.254) deleterious(0) deleterious(0.471) HMMPfam_zf-C3HC4,superfamily_RING/U-box ARHGAP26 23092 genome.wustl.edu 37 5 142393656 142393656 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015071.4 +1 reviewed p.S373 0.898 137 0% 124 18.5% 7 0% - - - NULL ARHGAP26 23092 genome.wustl.edu 37 5 142500552 142500552 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015071.4 +1 reviewed e18-1 1.000 420 0% 407 28% 0 - - - - - NR3C1 2908 genome.wustl.edu 37 5 142779335 142779335 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001024094.1 -1 reviewed p.I357T 1.000 236 0% 225 26.2% 0 - possibly_damaging(0.56) deleterious(0.01) deleterious(0.597) HMMPfam_GCR YIPF5 81555 genome.wustl.edu 37 5 143543734 143543734 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001024947.2 -1 validated p.E124* 1.000 204 0% 149 28.9% 4 0% - - - HMMPfam_Yip1 KCTD16 57528 genome.wustl.edu 37 5 143586814 143586814 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020768.3 +1 validated p.E179D 0.830 171 0% 164 28.7% 0 - benign(0.002) tolerated(1) - NULL SH3RF2 153769 genome.wustl.edu 37 5 145393506 145393506 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152550.3 +1 validated p.S314Y 1.000 595 0% 642 24.3% 1 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL RBM27 54439 genome.wustl.edu 37 5 145610442 145610442 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018989.1 +1 validated p.R271Q 1.000 419 0% 392 30.6% 0 - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL STK32A 202374 genome.wustl.edu 37 5 146658898 146658898 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001112724.1 +1 validated p.R66I 1.000 56 0% 40 22.5% 0 - possibly_damaging(0.88) tolerated(0.19) neutral(0.393) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DPYSL3 1809 genome.wustl.edu 37 5 146798061 146798061 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001387.2 -1 validated p.D88Y 1.000 308 0% 401 29.7% 11 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amidohydro_1,superfamily_Metalo_hydrolase,superfamily_SSF51556 JAKMIP2 9832 genome.wustl.edu 37 5 147019275 147019275 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014790.3 -1 provisional p.E484* 1.000 420 0% 403 36% 0 - - - - NULL SPINK5 11005 genome.wustl.edu 37 5 147504332 147504332 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127698.1 +1 reviewed p.R891* 0.998 67 0% 40 37.5% 1 100% - - - HMMSmart_SM00280,HMMPfam_Kazal_2,superfamily_Kazal-type serine protease inhibitors SPINK14 408187 genome.wustl.edu 37 5 147553890 147553890 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001325.1 +1 provisional p.F69V 0.001 317 0% 339 11.8% 0 - benign(0.062) deleterious(0.03) neutral(0.368) HMMPfam_Kazal_1,HMMSmart_KAZAL,PatternScan_KAZAL,superfamily_SSF100895 SPINK6 404203 genome.wustl.edu 37 5 147585602 147585602 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_205841.2 +1 validated p.V21A 1.000 252 0% 241 29% 0 - benign(0.001) tolerated(0.92) - NULL SPINK7 84651 genome.wustl.edu 37 5 147693683 147693683 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032566.2 +1 validated p.K36N 1.000 272 0% 324 28.7% 0 - benign(0.075) tolerated(0.27) neutral(0.038) HMMSmart_KAZAL,superfamily_SSF100895 HTR4 3360 genome.wustl.edu 37 5 147929798 147929798 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040173.2 -1 reviewed p.E18D 1.000 357 0% 258 27.1% 0 - benign(0.243) tolerated(0.24) neutral(0.062) superfamily_SSF81321 SH3TC2 79628 genome.wustl.edu 37 5 148389834 148389834 + Missense_Mutation SNP C C T rs80338935 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024577.3 -1 reviewed p.R1109Q 0.981 134 0% 95 25.3% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) superfamily_TPR-like ABLIM3 22885 genome.wustl.edu 37 5 148619330 148619330 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014945.2 +1 validated p.Y361 0.558 80 0% 92 16.3% 0 - - - - NULL ABLIM3 22885 genome.wustl.edu 37 5 148619425 148619425 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014945.2 +1 validated p.R393H 1.000 78 0% 80 30% 0 - possibly_damaging(0.758) deleterious(0.03) deleterious(0.645) NULL AFAP1L1 134265 genome.wustl.edu 37 5 148680716 148680716 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152406.2 +1 validated p.R84W 0.969 63 0% 91 39.6% 0 - probably_damaging(0.956) deleterious(0.01) deleterious(0.805) NULL PPARGC1B 133522 genome.wustl.edu 37 5 149212258 149212258 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133263.3 +1 reviewed p.S208A 0.001 132 0% 115 28.7% 0 - benign(0.001) tolerated(0.6) neutral(0.004) NULL TIGD6 81789 genome.wustl.edu 37 5 149374866 149374866 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030953.2 -1 validated p.I349T 0.966 96 0% 96 22.9% 10 60% possibly_damaging(0.916) deleterious(0.01) deleterious(0.772) HMMPfam_DDE DCTN4 51164 genome.wustl.edu 37 5 150110697 150110697 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135643.1 -1 validated p.Q218H 1.000 245 0% 239 23.4% 4 25% possibly_damaging(0.865) tolerated(0.07) deleterious(0.654) HMMPfam_Dynactin_p62 ZNF300 91975 genome.wustl.edu 37 5 150275011 150275011 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052860.2 -1 reviewed p.R597I 0.997 241 0% 252 31.3% 2 100% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SLC36A3 285641 genome.wustl.edu 37 5 150660616 150660616 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145017.1 -1 validated p.F409C 0.013 133 0% 162 28.4% 0 - benign(0) tolerated(0.2) neutral(0.049) HMMPfam_Aa_trans SLC36A3 285641 genome.wustl.edu 37 5 150663609 150663609 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145017.1 -1 validated p.C365R 1.000 225 0% 238 26.1% 0 - possibly_damaging(0.469) tolerated(0.52) neutral(0.163) HMMPfam_Aa_trans FAT2 2196 genome.wustl.edu 37 5 150923682 150923682 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001447.2 -1 reviewed p.E2336* 0.800 161 0% 154 22.1% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150923856 150923856 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001447.2 -1 reviewed p.T2278A 0.912 191 0% 176 33% 0 - benign(0.059) tolerated(0.44) neutral(0.017) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150943168 150943168 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001447.2 -1 reviewed p.E1098* 1.000 75 0% 73 37% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150948121 150948121 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001447.2 -1 reviewed p.K124N 0.969 182 0% 170 34.7% 0 - benign(0.053) tolerated(0.36) neutral(0.024) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like NMUR2 56923 genome.wustl.edu 37 5 151771969 151771969 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020167.4 -1 reviewed p.S344Y 1.000 150 0% 199 16.6% 0 - benign(0) tolerated(0.06) neutral(0.323) superfamily_Family A G protein-coupled receptor-like FAM114A2 10827 genome.wustl.edu 37 5 153406870 153406870 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018691.2 -1 validated p.E219* 1.000 172 0% 83 21.7% 2 0% - - - HMMPfam_DUF719 LARP1 23367 genome.wustl.edu 37 5 154174736 154174736 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015315.3 +1 validated p.E335* 1.000 123 0% 103 23.3% 4 0% - - - HMMPfam_La,HMMSmart_LA,superfamily_SSF46785 LARP1 23367 genome.wustl.edu 37 5 154179309 154179309 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015315.3 +1 validated p.Q435H 1.000 188 0% 197 29.9% 3 33.3% possibly_damaging(0.932) tolerated(0.08) deleterious(0.678) NULL TIMD4 91937 genome.wustl.edu 37 5 156381483 156381483 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138379.2 -1 validated p.E115* 1.000 65 0% 98 27.6% 0 - - - - HMMSmart_SM00409,HMMPfam_V-set HAVCR2 84868 genome.wustl.edu 37 5 156531728 156531728 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032782.3 -1 validated p.D143Y 0.000 42 0% 41 29.3% 2 0% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL FAM71B 153745 genome.wustl.edu 37 5 156589791 156589791 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130899.2 -1 validated p.S495 0.802 162 0% 168 25.6% 0 - - - - NULL FAM71B 153745 genome.wustl.edu 37 5 156592594 156592594 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130899.2 -1 validated p.E196K 0.001 369 0% 392 29.3% 0 - possibly_damaging(0.81) deleterious(0.02) deleterious(0.688) NULL CYFIP2 26999 genome.wustl.edu 37 5 156752581 156752581 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037332.2 +1 validated p.I639 0.910 58 0% 70 24.3% 1 0% - - - HMMPfam_FragX_IP LSM11 134353 genome.wustl.edu 37 5 157181076 157181076 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173491.2 +1 provisional p.S218Y 1.000 92 0% 92 18.5% 3 33.3% possibly_damaging(0.7) tolerated(0.08) deleterious(0.551) HMMPfam_LSM,superfamily_Sm_like_riboprot CLINT1 9685 genome.wustl.edu 37 5 157240119 157240119 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014666.2 -1 validated p.D157Y 1.000 286 0% 261 24.1% 16 18.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CLINT1 9685 genome.wustl.edu 37 5 157243763 157243763 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014666.2 -1 validated p.K74N 0.998 313 0% 201 22.9% 4 50% possibly_damaging(0.753) deleterious(0.03) deleterious(0.641) HMMPfam_ENTH,superfamily_ENTH/VHS domain,HMMSmart_SM00273 UBLCP1 134510 genome.wustl.edu 37 5 158696002 158696002 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145049.3 +1 validated p.D27N 1.000 107 0% 119 10.1% 2 0% benign(0.209) tolerated(0.43) neutral(0.034) HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like IL12B 3593 genome.wustl.edu 37 5 158753767 158753767 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002187.2 -1 reviewed p.I8 0.612 133 0% 138 21.7% 0 - - - - NULL ENSG00000223908 0 genome.wustl.edu 37 5 159450880 159450880 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000411779 -1 known p.R39I 0.999 305 0% 280 29.6% 0 - - - - NULL ATP10B 23120 genome.wustl.edu 37 5 159996531 159996531 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025153.2 -1 validated p.L1304I 1.000 258 0% 200 27.5% 0 - benign(0.032) tolerated(0.24) neutral(0.039) NULL GABRA6 2559 genome.wustl.edu 37 5 161128544 161128544 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000811.2 +1 reviewed p.S376Y 1.000 304 0% 282 31.9% 0 - benign(0.004) deleterious(0.02) neutral(0.383) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GABRG2 2566 genome.wustl.edu 37 5 161531031 161531031 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198903.2 +1 reviewed p.S296 0.956 214 0% 133 20.3% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like MAT2B 27430 genome.wustl.edu 37 5 162939191 162939191 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013283.3 +1 reviewed p.H83N 1.000 145 0% 93 28% 25 28% possibly_damaging(0.736) tolerated(0.06) deleterious(0.592) HMMPfam_RmlD_sub_bind,superfamily_NAD(P)-binding Rossmann-fold domains MAT2B 27430 genome.wustl.edu 37 5 162945313 162945313 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013283.3 +1 reviewed p.E317* 1.000 125 0% 90 35.6% 34 50% - - - HMMPfam_RmlD_sub_bind,superfamily_NAD(P)-binding Rossmann-fold domains CCDC99 54908 genome.wustl.edu 37 5 169020366 169020366 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017785.4 +1 validated p.K115 0.943 86 0% 102 22.5% 1 0% - - - NULL DOCK2 1794 genome.wustl.edu 37 5 169108817 169108817 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004946.2 +1 validated p.V180 0.998 187 0% 148 31.1% 0 - - - - NULL DOCK2 1794 genome.wustl.edu 37 5 169125454 169125454 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004946.2 +1 validated e11+1 1.000 160 0% 108 32.4% 0 - - - - - FOXI1 2299 genome.wustl.edu 37 5 169535414 169535414 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012188.4 +1 reviewed p.T312 0.889 66 0% 94 26.6% 0 - - - - NULL LCP2 3937 genome.wustl.edu 37 5 169685107 169685107 + Missense_Mutation SNP C C A rs186940101 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005565.3 -1 reviewed p.R345I 0.981 437 0% 409 30.6% 53 0% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL LCP2 3937 genome.wustl.edu 37 5 169702853 169702853 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005565.3 -1 reviewed p.K67T 1.000 13 0% 10 40% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 LCP2 3937 genome.wustl.edu 37 5 169720344 169720344 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005565.3 -1 reviewed p.K37 0.975 29 0% 37 40.5% 3 0% - - - HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 NPM1 4869 genome.wustl.edu 37 5 170818747 170818747 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002520.6 +1 reviewed p.V99A 1.000 112 0% 146 28.8% 412 38.8% possibly_damaging(0.555) deleterious(0.03) deleterious(0.554) HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain STK10 6793 genome.wustl.edu 37 5 171509486 171509486 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005990.3 -1 reviewed p.T611 0.000 89 0% 78 30.8% 4 0% - - - NULL ERGIC1 57222 genome.wustl.edu 37 5 172324069 172324069 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001031711.2 +1 reviewed p.T49 0.794 66 0% 68 25% 158 29.1% - - - NULL CPEB4 80315 genome.wustl.edu 37 5 173317010 173317010 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030627.2 +1 validated p.E92* 1.000 252 0% 280 30% 0 - - - - NULL C5orf25 375484 genome.wustl.edu 37 5 175722168 175722168 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198567.4 +1 validated p.E89* 1.000 97 0% 130 19.2% 0 - - - - NULL C5orf25 375484 genome.wustl.edu 37 5 175763724 175763724 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198567.4 +1 validated p.E291* 0.999 138 0% 177 29.4% 1 0% - - - NULL CDHR2 54825 genome.wustl.edu 37 5 176011604 176011604 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017675.4 +1 reviewed p.F774L 0.111 41 0% 91 28.6% 0 - probably_damaging(0.961) tolerated(0.12) deleterious(0.665) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin GPRIN1 114787 genome.wustl.edu 37 5 176025625 176025625 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052899.2 -1 validated p.S404Y 0.013 79 0% 67 17.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL GPRIN1 114787 genome.wustl.edu 37 5 176025980 176025980 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052899.2 -1 validated p.S286P 0.000 151 0% 117 24.8% 2 0% benign(0) tolerated(0.29) neutral(0.029) NULL EIF4E1B 253314 genome.wustl.edu 37 5 176072448 176072448 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099408.1 +1 validated p.R182H 1.000 19 0% 34 23.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IF4E,superfamily_TIF_eIF_4E HK3 3101 genome.wustl.edu 37 5 176318486 176318486 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002115.2 -1 reviewed p.L54 0.882 43 0% 43 20.9% 0 - - - - HMMPfam_Hexokinase_1,superfamily_SSF53067 NSD1 64324 genome.wustl.edu 37 5 176563067 176563067 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000424831 +1 known p.I321M 0.000 65 0% 78 24.4% 0 - - - - NULL NSD1 64324 genome.wustl.edu 37 5 176709473 176709473 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022455.4 +1 reviewed p.F1967C 1.000 418 0% 453 30.7% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain B4GALT7 11285 genome.wustl.edu 37 5 177031445 177031445 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007255.2 +1 reviewed p.E106K 0.998 44 0% 75 18.7% 30 33.3% possibly_damaging(0.791) deleterious(0.01) deleterious(0.702) HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases HNRNPAB 3182 genome.wustl.edu 37 5 177636358 177636358 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031266.2 +1 reviewed p.E233* 1.000 104 0% 86 22.1% 256 4.2% - - - superfamily_SSF54928 ZNF354B 117608 genome.wustl.edu 37 5 178310114 178310114 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_058230.2 +1 validated p.K221Q 0.998 342 0% 319 30.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF354B 117608 genome.wustl.edu 37 5 178310292 178310292 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_058230.2 +1 validated p.S280N 0.252 263 0% 246 19.9% 0 - benign(0.087) tolerated(0.17) neutral(0.066) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF354B 117608 genome.wustl.edu 37 5 178310506 178310506 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_058230.2 +1 validated p.K351N 1.000 222 0% 222 28.4% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_SSF57667 ZNF354B 117608 genome.wustl.edu 37 5 178310658 178310658 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_058230.2 +1 validated p.R402I 1.000 222 0% 250 26% 1 100% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF354B 117608 genome.wustl.edu 37 5 178311010 178311010 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_058230.2 +1 validated p.E519D 1.000 205 0% 212 23.1% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) superfamily_SSF57667 ZFP2 80108 genome.wustl.edu 37 5 178359206 178359206 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030613.2 +1 provisional p.Y298D 0.968 166 0% 186 27.4% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP2 80108 genome.wustl.edu 37 5 178359519 178359519 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030613.2 +1 provisional p.R402I 1.000 127 0% 152 25.7% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF879 345462 genome.wustl.edu 37 5 178459956 178459956 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001136116.1 +1 provisional p.R336I 0.894 18 0% 23 34.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MAML1 9794 genome.wustl.edu 37 5 179192804 179192804 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014757.4 +1 reviewed p.E265* 1.000 266 0% 305 23% 1 0% - - - NULL FLT4 2324 genome.wustl.edu 37 5 180041138 180041138 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182925.4 -1 reviewed p.F1087 0.987 70 0% 84 33.3% 3 33.3% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) MGAT1 4245 genome.wustl.edu 37 5 180219000 180219000 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001114617.1 -1 reviewed p.F324 1.000 66 0% 42 14.3% 72 9.7% - - - HMMPfam_GNT-I,superfamily_SSF53448 BTNL9 153579 genome.wustl.edu 37 5 180482997 180482997 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152547.4 +1 validated p.R313W 0.999 57 0% 104 15.4% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IRF4 3662 genome.wustl.edu 37 6 394860 394860 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002460.2 +1 validated p.D86N 1.000 162 0% 156 31.4% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) "HMMPfam_IRF,HMMSmart_SM00348,superfamily_""Winged helix"" DNA-binding domain" EXOC2 55770 genome.wustl.edu 37 6 599086 599086 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018303.4 -1 reviewed p.I294M 0.996 450 0% 408 21.6% 1 0% possibly_damaging(0.882) deleterious(0.03) deleterious(0.709) NULL C6orf195 154386 genome.wustl.edu 37 6 2623682 2623682 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152554.2 -1 validated p.E125D 0.000 68 0% 68 26.5% 0 - unknown(0) - - NULL SERPINB1 1992 genome.wustl.edu 37 6 2838228 2838228 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030666.2 -1 provisional p.F104L 1.000 246 0% 235 35.7% 16 43.7% possibly_damaging(0.895) deleterious(0) deleterious(0.797) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin BPHL 670 genome.wustl.edu 37 6 3152778 3152778 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004332.2 +1 reviewed p.F282S 1.000 78 0% 46 26.1% 63 50.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases F13A1 2162 genome.wustl.edu 37 6 6251145 6251145 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000129.3 -1 reviewed p.D197N 1.000 361 0% 252 30.2% 1 0% benign(0.012) deleterious(0.02) neutral(0.384) superfamily_SSF54001 F13A1 2162 genome.wustl.edu 37 6 6318881 6318881 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000129.3 -1 reviewed p.R6K 0.000 187 0% 135 23.7% 0 - benign(0.008) tolerated(0.24) neutral(0.037) superfamily_Ig_E-set CAGE1 285782 genome.wustl.edu 37 6 7373437 7373437 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_205864.2 -1 validated p.E403K 0.000 53 0% 51 27.5% 0 - possibly_damaging(0.478) tolerated(0.32) neutral(0.182) NULL DSP 1832 genome.wustl.edu 37 6 7583835 7583835 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004415.2 +1 reviewed p.N2114H 1.000 231 0% 230 27% 3 33.3% probably_damaging(0.998) tolerated(0.18) deleterious(0.530) HMMSmart_SM00250,superfamily_Plakin repeat SNRNP48 154007 genome.wustl.edu 37 6 7594381 7594381 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152551.3 +1 validated p.S107L 0.867 37 0% 27 14.8% 0 - probably_damaging(0.955) deleterious(0.03) deleterious(0.763) NULL SNRNP48 154007 genome.wustl.edu 37 6 7595275 7595275 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152551.3 +1 validated p.F116C 0.993 302 0% 201 27.9% 0 - probably_damaging(0.995) tolerated(0.07) deleterious(0.776) NULL SNRNP48 154007 genome.wustl.edu 37 6 7606410 7606410 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152551.3 +1 validated p.S318L 0.211 216 0% 156 32.1% 5 0% benign(0.005) deleterious(0.02) neutral(0.383) NULL PAK1IP1 55003 genome.wustl.edu 37 6 10704800 10704800 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017906.2 +1 validated p.K186T 0.994 78 0% 77 27.3% 3 33.3% benign(0.045) tolerated(0.36) neutral(0.022) superfamily_WD40_like HIVEP1 3096 genome.wustl.edu 37 6 12015869 12015869 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002114.2 +1 validated p.R3Q 1.000 101 0% 94 34% 0 - possibly_damaging(0.627) deleterious(0) deleterious(0.663) NULL HIVEP1 3096 genome.wustl.edu 37 6 12120153 12120153 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002114.2 +1 validated p.S42L 0.894 525 0% 610 23.4% 0 - possibly_damaging(0.718) tolerated(0.26) neutral(0.294) NULL HIVEP1 3096 genome.wustl.edu 37 6 12121151 12121151 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002114.2 +1 validated p.N375H 1.000 370 0% 374 22.5% 1 100% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL HIVEP1 3096 genome.wustl.edu 37 6 12125382 12125382 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002114.2 +1 validated p.S1785L 0.001 253 0% 201 29.4% 0 - benign(0.117) tolerated(0.16) neutral(0.069) NULL HIVEP1 3096 genome.wustl.edu 37 6 12125410 12125410 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002114.2 +1 validated p.K1794N 1.000 288 0% 244 24.2% 0 - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) NULL HIVEP1 3096 genome.wustl.edu 37 6 12163712 12163712 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002114.2 +1 validated p.S2392L 0.279 194 0% 150 25.3% 14 42.8% possibly_damaging(0.647) tolerated(0.09) deleterious(0.523) NULL HIVEP1 3096 genome.wustl.edu 37 6 12164505 12164505 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002114.2 +1 validated p.Q2656 0.000 82 0% 62 19.4% 23 34.7% - - - NULL RANBP9 10048 genome.wustl.edu 37 6 13657357 13657357 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005493.2 -1 reviewed p.K296N 1.000 133 0% 113 31% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SPRY,HMMSmart_SM00449 RNF182 221687 genome.wustl.edu 37 6 13977579 13977579 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152737.3 +1 validated p.E77* 0.735 377 0% 268 29.9% 0 - - - - NULL DTNBP1 84062 genome.wustl.edu 37 6 15627634 15627634 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032122.3 -1 reviewed p.E99K 1.000 101 0% 76 26.3% 5 20% benign(0.103) tolerated(0.58) neutral(0.013) NULL GMPR 2766 genome.wustl.edu 37 6 16247101 16247101 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006877.3 +1 reviewed p.R39Q 1.000 82 0% 152 30.9% 12 50% probably_damaging(0.984) deleterious(0.01) deleterious(0.836) HMMPfam_IMPDH,superfamily_SSF51412 NUP153 9972 genome.wustl.edu 37 6 17648119 17648119 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005124.2 -1 reviewed p.P517 0.110 166 0% 158 22.2% 0 - - - - HMMPfam_Nup153 NUP153 9972 genome.wustl.edu 37 6 17665549 17665549 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005124.2 -1 reviewed p.R379Q 1.000 140 0% 133 28.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nup153 KIF13A 63971 genome.wustl.edu 37 6 17800213 17800213 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000358380 -1 known p.S256* 1.000 359 0% 336 24.1% 3 66.6% - - - NULL KIF13A 63971 genome.wustl.edu 37 6 17817433 17817433 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022113.4 -1 validated p.E606D 1.000 70 0% 92 23.9% 0 - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) NULL TPMT 7172 genome.wustl.edu 37 6 18143837 18143837 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000367.2 -1 reviewed p.K119T 1.000 120 0% 137 24.1% 5 60% possibly_damaging(0.666) deleterious(0.01) deleterious(0.641) HMMPfam_TPMT,superfamily_SSF53335 DEK 7913 genome.wustl.edu 37 6 18256632 18256632 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003472.3 -1 reviewed p.G138* 1.000 93 0% 109 18.3% 7 0% - - - NULL CDKAL1 54901 genome.wustl.edu 37 6 20781474 20781474 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017774.3 +1 reviewed p.E206* 1.000 219 0% 169 24.3% 3 0% - - - HMMSmart_SM00729,superfamily_Radical SAM enzymes CDKAL1 54901 genome.wustl.edu 37 6 20955791 20955791 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017774.3 +1 reviewed p.P295L 1.000 170 0% 212 24.1% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00729,HMMPfam_Radical_SAM,superfamily_Radical SAM enzymes KIAA0319 9856 genome.wustl.edu 37 6 24566874 24566874 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014809.3 -1 reviewed p.R748I 1.000 198 0% 170 17.1% 1 0% benign(0.001) deleterious(0) neutral(0.445) HMMSmart_SM00089,superfamily_PKD domain,HMMSmart_SM00060 KIAA0319 9856 genome.wustl.edu 37 6 24596683 24596683 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014809.3 -1 reviewed p.F73 0.998 56 0% 72 30.6% 0 - - - - HMMSmart_SM00765 LRRC16A 55604 genome.wustl.edu 37 6 25472656 25472656 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017640.5 +1 validated p.D261Y 1.000 29 0% 26 69.2% 1 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_SSF52047 LRRC16A 55604 genome.wustl.edu 37 6 25619776 25619776 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017640.5 +1 validated p.G1316R 0.985 177 0% 148 20.3% 17 47% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SCGN 10590 genome.wustl.edu 37 6 25665251 25665251 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006998.3 +1 reviewed p.E109D 1.000 102 0% 69 29% 0 - benign(0) tolerated(0.23) neutral(0.042) HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand SCGN 10590 genome.wustl.edu 37 6 25689399 25689399 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006998.3 +1 reviewed e8-1 1.000 75 0% 51 19.6% 0 - - - - - SLC17A4 10050 genome.wustl.edu 37 6 25769212 25769212 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005495.2 +1 validated e2-1 0.216 135 0% 99 19.2% 0 - - - - - SLC17A3 10786 genome.wustl.edu 37 6 25862047 25862047 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098486.1 -1 validated p.R172* 0.276 121 0% 94 21.3% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter HIST1H1A 3024 genome.wustl.edu 37 6 26017380 26017380 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005325.3 -1 reviewed p.A194V 0.862 180 0% 186 18.3% 0 - unknown(0) tolerated(0.44) - NULL HIST1H2BC 8347 genome.wustl.edu 37 6 26123939 26123939 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003526.2 -1 reviewed p.S65Y 1.000 312 0% 248 23.4% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00427,HMMPfam_Histone,superfamily_Histone-fold HIST1H2AC 8334 genome.wustl.edu 37 6 26124646 26124646 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003512.3 +1 reviewed p.E62D 1.000 75 0% 42 9.5% 38 31.5% possibly_damaging(0.477) deleterious(0) deleterious(0.602) HMMSmart_SM00414,HMMPfam_Histone,superfamily_Histone-fold HIST1H4D 8360 genome.wustl.edu 37 6 26189065 26189065 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003539.3 -1 reviewed p.K80 1.000 91 0% 121 31.4% 0 - - - - HMMSmart_SM00417,HMMSmart_SM00803,HMMPfam_Histone,superfamily_Histone-fold BTN3A2 11118 genome.wustl.edu 37 6 26370573 26370573 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007047.3 +1 reviewed p.E153K 0.000 124 0% 121 26.4% 27 18.5% benign(0.066) tolerated(0.57) neutral(0.010) HMMPfam_V-set,superfamily_SSF48726 BTN1A1 696 genome.wustl.edu 37 6 26508840 26508840 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001732.2 +1 validated p.R340I 1.000 291 0% 347 28.5% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMSmart_SM00589 BTN1A1 696 genome.wustl.edu 37 6 26509189 26509189 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001732.2 +1 validated p.L456 1.000 220 0% 206 28.2% 0 - - - - HMMPfam_SPRY,HMMSmart_SM00449 ZNF322 79692 genome.wustl.edu 37 6 26637897 26637897 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024639.3 -1 validated p.C295 1.000 503 0.2% 444 18.9% 0 - - - - HMMSmart_ZnF_C2H2,superfamily_SSF57667 FKSG83 387316 genome.wustl.edu 37 6 27293585 27293585 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032030.2 +1 validated p.R175I 0.000 84 0% 72 34.7% 0 - - - - NULL ZNF184 7738 genome.wustl.edu 37 6 27420179 27420179 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007149.2 -1 validated p.E387* 1.000 117 0% 183 18% 0 - - - - superfamily_C2H2 and C2HC zinc fingers OR2B2 81697 genome.wustl.edu 37 6 27879096 27879096 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033057.2 -1 validated p.F334 0.001 202 0% 210 32.9% 0 - - - - NULL ZNF192 7745 genome.wustl.edu 37 6 28116539 28116539 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006298.2 +1 validated p.N118 0.090 286 0% 243 25.5% 0 - - - - HMMPfam_SCAN,HMMSmart_SM00431 ZNF323 64288 genome.wustl.edu 37 6 28294523 28294523 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135215.1 -1 validated p.S214Y 0.102 186 0% 142 21.1% 1 0% possibly_damaging(0.858) tolerated(0.12) deleterious(0.592) superfamily_SSF57667 GPX6 257202 genome.wustl.edu 37 6 28473506 28473506 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182701.1 -1 reviewed p.E145* 0.994 233 0% 150 24.7% 0 - - - - HMMPfam_GSHPx,superfamily_Thioredoxin-like SCAND3 114821 genome.wustl.edu 37 6 28543856 28543856 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052923.1 -1 provisional p.S209I 0.617 107 0% 80 27.5% 0 - benign(0.039) deleterious(0.04) neutral(0.351) NULL ZNF311 282890 genome.wustl.edu 37 6 28967340 28967340 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010877.2 -1 provisional p.W78C 1.000 173 0% 195 13.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) OR2B3 442184 genome.wustl.edu 37 6 29054407 29054407 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005226.2 -1 validated p.L207I 0.000 143 0% 108 34.3% 0 - possibly_damaging(0.888) tolerated(0.09) deleterious(0.644) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2J1 442185 genome.wustl.edu 37 6 29069550 29069550 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000377171 +1 known p.L277 0.013 287 0% 276 25% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5V1 81696 genome.wustl.edu 37 6 29323709 29323709 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030876.5 -1 validated p.K88N 0.000 420 0% 471 29.1% 0 - benign(0.069) tolerated(0.14) neutral(0.254) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MAS1L 116511 genome.wustl.edu 37 6 29455613 29455613 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052967.1 -1 provisional p.I23L 0.013 71 0% 101 20.8% 0 - benign(0.001) deleterious(0) neutral(0.445) NULL GABBR1 2550 genome.wustl.edu 37 6 29591191 29591191 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001470.2 -1 reviewed p.R285Q 1.000 22 0% 44 36.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I ZFP57 346171 genome.wustl.edu 37 6 29641493 29641493 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001109809.2 -1 reviewed p.R112I 0.007 162 0% 166 13.3% 0 - possibly_damaging(0.928) tolerated(0.49) neutral(0.386) NULL TRIM10 10107 genome.wustl.edu 37 6 30122175 30122175 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006778.3 -1 validated p.Q339H 1.000 72 0% 75 25.3% 0 - probably_damaging(0.979) deleterious(0.02) deleterious(0.805) HMMSmart_SM00589 TRIM15 89870 genome.wustl.edu 37 6 30131750 30131750 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033229.2 +1 reviewed p.D97Y 0.645 52 0% 60 20% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain TRIM15 89870 genome.wustl.edu 37 6 30136086 30136086 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033229.2 +1 reviewed p.E163K 0.024 46 0% 58 27.6% 1 0% probably_damaging(0.989) tolerated(0.07) deleterious(0.758) NULL GNL1 2794 genome.wustl.edu 37 6 30514580 30514580 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005275.3 -1 validated p.K492T 1.000 188 0% 236 23.3% 92 34.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MDC1 9656 genome.wustl.edu 37 6 30676050 30676050 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014641.2 -1 reviewed p.D769G 0.000 283 0% 339 23.9% 0 - benign(0.075) - - NULL MDC1 9656 genome.wustl.edu 37 6 30681583 30681583 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014641.2 -1 reviewed p.V172I 0.973 230 0% 238 19.3% 0 - unknown(0) tolerated(0.53) - NULL FLOT1 10211 genome.wustl.edu 37 6 30710008 30710008 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000418160 -1 known p.P35 0.006 25 0% 36 22.2% 3 0% - - - NULL SAPCD1 401251 genome.wustl.edu 37 6 31731840 31731840 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039651.1 +1 provisional e3-1 0.278 43 0% 63 30.2% 0 - - - - - VWA7 80737 genome.wustl.edu 37 6 31741092 31741092 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025258.2 -1 validated p.K282Q 0.000 4 0.000 9 0.444 0 - benign(0) tolerated(0.49) neutral(0.011) NULL HSPA1L 3305 genome.wustl.edu 37 6 31778007 31778007 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005527.3 -1 reviewed p.S581 0.002 191 0% 247 31.2% 0 - - - - HMMPfam_HSP70,superfamily_SSF100934 HSPA1L 3305 genome.wustl.edu 37 6 31779716 31779716 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005527.3 -1 reviewed p.D12N 1.000 65 0% 88 14.8% 2 0% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_HSP70,PatternScan_HSP70_1,superfamily_SSF53067 SLC44A4 80736 genome.wustl.edu 37 6 31839095 31839095 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025257.2 -1 reviewed p.L233I 1.000 106 0% 138 18.8% 23 26% benign(0.014) tolerated(0.19) neutral(0.050) NULL C2 717 genome.wustl.edu 37 6 31902182 31902182 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000418949 +1 known p.E319* 0.319 85 0% 62 32.3% 1 0% - - - NULL STK19 8859 genome.wustl.edu 37 6 31939805 31939805 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032454.1 +1 reviewed p.A11E 0.847 41 0% 40 25% 6 33.3% unknown(0) deleterious(0) - NULL TNXB 7148 genome.wustl.edu 37 6 32015689 32015689 + Silent SNP G G A rs146798373 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019105.6 -1 reviewed p.F3380 0.259 29 0% 20 30% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNXB 7148 genome.wustl.edu 37 6 32036898 32036898 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019105.6 -1 reviewed p.T1868M 0.000 39 0% 47 34% 0 - probably_damaging(0.967) tolerated(0.18) neutral(0.465) superfamily_Fibronectin type III EGFL8 80864 genome.wustl.edu 37 6 32135385 32135385 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030652.2 +1 validated p.E263K 1.000 58 0% 57 26.3% 2 0% benign(0.418) deleterious(0.02) deleterious(0.518) NULL NOTCH4 4855 genome.wustl.edu 37 6 32181557 32181557 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004557.3 -1 reviewed p.S743Y 1.000 83 0% 113 35.4% 2 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin BTNL2 56244 genome.wustl.edu 37 6 32364113 32364113 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019602.1 -1 provisional p.E261* 0.977 65 0% 81 24.7% 0 - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin HLA-DMA 3108 genome.wustl.edu 37 6 32917421 32917421 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006120.3 -1 reviewed p.E207K 0.970 170 0% 199 26.6% 1083 31.4% benign(0.007) tolerated(0.19) neutral(0.050) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin HSD17B8 7923 genome.wustl.edu 37 6 33173616 33173616 + Missense_Mutation SNP G G A rs144565618 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014234.3 +1 reviewed p.R193H 1.000 151 0% 161 18.6% 31 3.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_NAD(P)-bd KIFC1 3833 genome.wustl.edu 37 6 33372754 33372754 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002263.3 +1 validated p.E294D 0.998 59 0% 68 29.4% 26 50% possibly_damaging(0.849) tolerated(0.11) deleterious(0.598) superfamily_SSF52540 ITPR3 3710 genome.wustl.edu 37 6 33631645 33631645 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002224.2 +1 validated p.S379Y 1.000 27 0% 38 21.1% 3 66.6% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_MIR,superfamily_MIR,HMMSmart_MIR GRM4 2914 genome.wustl.edu 37 6 34008054 34008054 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000841.1 -1 reviewed p.G469 0.995 171 0% 163 20.2% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I ANKS1A 23294 genome.wustl.edu 37 6 34949577 34949577 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015245.2 +1 validated p.F182 0.043 84 0% 76 27.6% 2 50% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK TULP1 7287 genome.wustl.edu 37 6 35478732 35478732 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003322.3 -1 reviewed p.K135 0.997 116 0% 137 35% 0 - - - - NULL FKBP5 2289 genome.wustl.edu 37 6 35554774 35554774 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145777.1 -1 reviewed p.K262N 0.000 172 0% 152 21.7% 0 - probably_damaging(0.976) - - NULL LHFPL5 222662 genome.wustl.edu 37 6 35773810 35773810 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182548.3 +1 reviewed p.C121* 1.000 64 0% 52 28.8% 0 - - - - HMMPfam_L_HGMIC_fpl SRPK1 6732 genome.wustl.edu 37 6 35836867 35836867 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003137.3 -1 reviewed p.F478V 1.000 94 0% 89 31.5% 2 100% benign(0) tolerated(0.11) neutral(0.272) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SLC26A8 116369 genome.wustl.edu 37 6 35923159 35923159 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052961.2 -1 reviewed p.V668M 0.000 248 0% 280 34.6% 0 - benign(0.003) tolerated(0.48) neutral(0.011) HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa KCTD20 222658 genome.wustl.edu 37 6 36452493 36452493 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173562.3 +1 provisional p.L287I 1.000 364 0% 269 28.3% 1 0% benign(0) tolerated(1) - NULL CPNE5 57699 genome.wustl.edu 37 6 36711471 36711471 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020939.1 -1 reviewed p.V520I 0.994 47 0% 32 12.5% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_SSF53300 CPNE5 57699 genome.wustl.edu 37 6 36730765 36730765 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020939.1 -1 reviewed p.D262Y 1.000 154 0% 137 30.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB MTCH1 23787 genome.wustl.edu 37 6 36936737 36936737 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014341.1 -1 provisional p.R354Q 0.995 45 0% 39 33.3% 213 46.9% benign(0.012) deleterious(0.01) neutral(0.406) superfamily_Mitochondrial carrier TMEM217 221468 genome.wustl.edu 37 6 37186606 37186606 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145316.3 -1 validated p.I67 0.000 589 0% 560 16.4% 0 - - - - NULL TBC1D22B 55633 genome.wustl.edu 37 6 37237424 37237424 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017772.2 +1 validated p.K37N 1.000 159 0% 155 10.3% 2 0% benign(0.268) tolerated(0.49) neutral(0.039) NULL RNF8 9025 genome.wustl.edu 37 6 37336153 37336153 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000229866 +1 known e3-1 0.996 108 0% 107 27.1% 0 - - - - - RNF8 9025 genome.wustl.edu 37 6 37344787 37344787 + Nonsense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000498460 +1 known p.Y164* 1.000 145 0% 145 29% 16 37.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL MDGA1 266727 genome.wustl.edu 37 6 37622255 37622255 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153487.3 -1 validated p.T259 0.576 65 0% 69 14.5% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin DNAH8 1769 genome.wustl.edu 37 6 38738307 38738307 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001371.2 +1 validated p.F362C 1.000 151 0% 167 28.7% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_DHC_N1 DNAH8 1769 genome.wustl.edu 37 6 38754599 38754599 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001371.2 +1 validated p.F601 1.000 97 0% 64 23.4% 0 - - - - HMMPfam_DHC_N1 DNAH8 1769 genome.wustl.edu 37 6 38810635 38810635 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001371.2 +1 validated p.N1384H 1.000 365 0% 216 29.2% 0 - benign(0.108) tolerated(0.18) neutral(0.065) HMMPfam_DHC_N2 DNAH8 1769 genome.wustl.edu 37 6 38819380 38819380 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001371.2 +1 validated p.R1582I 1.000 151 0% 125 30.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DHC_N2 DNAH8 1769 genome.wustl.edu 37 6 38840840 38840840 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001371.2 +1 validated p.E2249K 1.000 225 0% 216 30.6% 0 - benign(0.221) deleterious(0.02) neutral(0.405) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH8 1769 genome.wustl.edu 37 6 38874055 38874055 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001371.2 +1 validated p.D2857N 1.000 70 0% 85 18.8% 0 - possibly_damaging(0.714) deleterious(0) deleterious(0.703) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH8 1769 genome.wustl.edu 37 6 38903431 38903431 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001371.2 +1 validated p.E3624* 1.000 336 0% 385 28.1% 0 - - - - NULL DNAH8 1769 genome.wustl.edu 37 6 38998068 38998068 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001371.2 +1 validated p.R4458Q 0.996 146 0% 127 14.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy DNAH8 1769 genome.wustl.edu 37 6 38998104 38998104 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001371.2 +1 validated p.R4470Q 0.983 160 0% 113 23.9% 0 - possibly_damaging(0.435) tolerated(0.6) neutral(0.146) HMMPfam_Dynein_heavy DAAM2 23500 genome.wustl.edu 37 6 39869137 39869137 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015345.2 +1 validated p.F956L 1.000 228 0% 200 31.5% 3 66.6% probably_damaging(0.976) deleterious(0.01) deleterious(0.824) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) LRFN2 57497 genome.wustl.edu 37 6 40400810 40400810 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020737.1 -1 provisional p.F15L 1.000 37 0% 39 28.2% 0 - benign(0.003) tolerated(1) - NULL UNC5CL 222643 genome.wustl.edu 37 6 41002633 41002633 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173561.1 -1 provisional p.E61* 0.051 179 0% 217 33.2% 2 50% - - - NULL APOBEC2 10930 genome.wustl.edu 37 6 41029101 41029101 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006789.3 +1 validated p.F56L 1.000 103 0% 130 30% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_APOBEC_N NFYA 4800 genome.wustl.edu 37 6 41048549 41048549 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002505.4 +1 reviewed e2-1 1.000 40 0% 52 28.8% 0 - - - - - TREM2 54209 genome.wustl.edu 37 6 41129073 41129073 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018965.2 -1 reviewed p.L107F 0.959 101 0% 84 31% 34 0% benign(0.049) tolerated(0.2) neutral(0.052) HMMPfam_V-set,superfamily_Immunoglobulin TREML2 79865 genome.wustl.edu 37 6 41160199 41160199 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024807.2 -1 validated p.R311I 0.634 63 0% 57 28.1% 0 - probably_damaging(0.981) tolerated(0.1) deleterious(0.712) NULL TREML4 285852 genome.wustl.edu 37 6 41196752 41196752 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198153.2 +1 validated p.L122I 0.001 108 0% 106 25.5% 0 - possibly_damaging(0.862) tolerated(0.14) deleterious(0.583) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin TREM1 54210 genome.wustl.edu 37 6 41250490 41250490 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018643.2 -1 provisional e2-1 0.046 314 0% 308 26% 0 - - - - - NCR2 9436 genome.wustl.edu 37 6 41309820 41309820 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004828.3 +1 validated p.L193 0.041 89 0% 119 36.1% 0 - - - - NULL UBR2 23304 genome.wustl.edu 37 6 42573592 42573592 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015255.2 +1 reviewed p.R266* 1.000 96 0% 87 31% 0 - - - - HMMPfam_ClpS,superfamily_ClpS-like UBR2 23304 genome.wustl.edu 37 6 42633200 42633200 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015255.2 +1 reviewed p.S1251Y 1.000 338 0% 378 20.1% 0 - benign(0.184) tolerated(0.05) neutral(0.362) NULL PRPH2 5961 genome.wustl.edu 37 6 42672347 42672347 + Missense_Mutation SNP C C T rs121918567 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000322.4 -1 reviewed p.R195Q 1.000 39 0% 65 38.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Tetraspanin,HMMPfam_Tetraspannin KIAA0240 23506 genome.wustl.edu 37 6 42832563 42832563 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015349.1 +1 validated p.M873I 0.057 114 0% 103 34% 2 50% benign(0) tolerated(0.08) neutral(0.300) NULL CNPY3 10695 genome.wustl.edu 37 6 42903327 42903327 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006586.3 +1 validated p.I97 0.921 38 0% 92 23.9% 71 29.5% - - - NULL CUL7 9820 genome.wustl.edu 37 6 43018867 43018867 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014780.4 -1 reviewed p.R358C 1.000 88 0% 136 22.1% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CUL9 23113 genome.wustl.edu 37 6 43166400 43166400 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015089.2 +1 validated p.R953* 0.072 221 0% 294 32% 0 - - - - superfamily_ARM repeat TTBK1 84630 genome.wustl.edu 37 6 43250666 43250666 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032538.1 +1 validated p.N730D 0.934 108 0% 124 13.7% 0 - possibly_damaging(0.791) tolerated(0.24) neutral(0.334) NULL ZNF318 24149 genome.wustl.edu 37 6 43306763 43306763 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014345.2 -1 validated p.V1658A 0.003 228 0% 222 31.1% 2 100% benign(0.001) deleterious(0) neutral(0.445) NULL ZNF318 24149 genome.wustl.edu 37 6 43325291 43325291 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014345.2 -1 validated p.R254Q 1.000 228 0% 264 26.1% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL POLR1C 9533 genome.wustl.edu 37 6 43487162 43487162 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203290.1 +1 validated p.R78Q 0.398 68 0% 92 26.1% 40 30% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_RNA_POL_D_30KD,superfamily_RBP11-like subunits of RNA polymerase,HMMPfam_RNA_pol_L,HMMSmart_SM00662 POLH 5429 genome.wustl.edu 37 6 43582112 43582112 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006502.2 +1 reviewed p.H654N 1.000 200 0% 160 31.2% 5 20% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL TCTE1 202500 genome.wustl.edu 37 6 44254079 44254079 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182539.3 -1 validated p.F156 0.742 26 0% 24 33.3% 0 - - - - NULL CDC5L 988 genome.wustl.edu 37 6 44360538 44360538 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001253.2 +1 reviewed p.Q95R 1.000 197 0% 178 23.6% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SANT,superfamily_Homeodomain_like,HMMPfam_Myb_DNA-binding CLIC5 53405 genome.wustl.edu 37 6 45870870 45870870 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001114086.1 -1 validated p.I396 0.713 117 0% 64 34.4% 1 0% - - - superfamily_Glutathione S-transferase (GST) C-terminal domain ENPP4 22875 genome.wustl.edu 37 6 46111231 46111231 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014936.4 +1 validated p.E406K 0.998 290 0% 401 33.9% 4 50% benign(0.062) tolerated(0.86) neutral(0.005) NULL ENPP5 59084 genome.wustl.edu 37 6 46135426 46135426 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021572.4 -1 validated p.D192Y 1.000 108 0% 114 27.2% 0 - benign(0.001) tolerated(0.25) neutral(0.037) HMMPfam_Phosphodiest,superfamily_Alkaline phosphatase-like TDRD6 221400 genome.wustl.edu 37 6 46658447 46658447 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010870.2 +1 validated p.S861Y 0.469 234 0% 141 25.5% 0 - probably_damaging(0.957) tolerated(1) neutral(0.401) HMMSmart_TUDOR,HMMPfam_TUDOR,superfamily_SSF63748 TDRD6 221400 genome.wustl.edu 37 6 46660025 46660025 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010870.2 +1 validated p.F1387C 1.000 479 0% 379 25.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_TUDOR,HMMPfam_TUDOR,superfamily_SSF63748 GPR116 221395 genome.wustl.edu 37 6 46821785 46821785 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098518.1 -1 validated p.E1329* 1.000 114 0% 96 25% 2 0% - - - NULL GPR110 266977 genome.wustl.edu 37 6 46993670 46993670 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153840.2 -1 validated p.R66I 0.013 267 0% 269 29.4% 0 - possibly_damaging(0.462) deleterious(0) deleterious(0.596) NULL GPR115 221393 genome.wustl.edu 37 6 47678574 47678574 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153838.3 +1 validated p.Q84H 1.000 194 0% 153 20.3% 0 - benign(0.066) tolerated(0.44) neutral(0.017) NULL GPR115 221393 genome.wustl.edu 37 6 47681972 47681972 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153838.3 +1 validated p.E331* 0.975 132 0% 95 29.5% 0 - - - - NULL PTCHD4 442213 genome.wustl.edu 37 6 47846408 47846408 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013732.3 -1 validated p.F707 0.986 93 1.1% 76 32.9% 0 - - - - HMMPfam_Patched,superfamily_SSF82866 PTCHD4 442213 genome.wustl.edu 37 6 47846847 47846847 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013732.3 -1 validated p.S561* 0.994 104 0% 75 22.7% 0 - - - - HMMPfam_Patched MUT 4594 genome.wustl.edu 37 6 49415386 49415386 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000255.3 -1 reviewed p.K519N 0.984 120 0% 122 26.2% 9 44.4% benign(0) tolerated(0.52) neutral(0.009) HMMPfam_MM_CoA_mutase,superfamily_Cobalamin (vitamin B12)-dependent enzymes PGK2 5232 genome.wustl.edu 37 6 49754890 49754890 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138733.4 -1 reviewed p.S4Y 1.000 156 0% 144 34% 0 - unknown(0) deleterious(0.03) - HMMPfam_PGK PKHD1 5314 genome.wustl.edu 37 6 51491847 51491847 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138694.3 -1 reviewed p.S3911 0.047 252 0% 243 16.5% 0 - - - - NULL PKHD1 5314 genome.wustl.edu 37 6 51618146 51618146 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138694.3 -1 reviewed p.V2935L 0.297 252 0% 178 30.3% 0 - benign(0.059) tolerated(0.74) neutral(0.005) NULL PKHD1 5314 genome.wustl.edu 37 6 51619636 51619636 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138694.3 -1 reviewed p.E2915K 1.000 208 0% 175 30.9% 0 - probably_damaging(0.98) tolerated(0.8) neutral(0.424) NULL PKHD1 5314 genome.wustl.edu 37 6 51732869 51732869 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138694.3 -1 reviewed p.N2509H 0.859 148 0% 156 34.6% 0 - probably_damaging(1) tolerated(0.51) deleterious(0.509) NULL PKHD1 5314 genome.wustl.edu 37 6 51935235 51935235 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138694.3 -1 reviewed p.N226H 1.000 185 0% 137 22.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_E set domains EFHC1 114327 genome.wustl.edu 37 6 52288760 52288760 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018100.3 +1 reviewed p.R27K 1.000 301 0% 290 34.8% 2 0% benign(0.074) tolerated(1) neutral(0.005) NULL EFHC1 114327 genome.wustl.edu 37 6 52343876 52343876 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018100.3 +1 reviewed p.F440L 1.000 302 0% 261 30.3% 7 42.8% benign(0) tolerated(0.74) neutral(0.002) HMMSmart_SM00676,HMMPfam_DUF1126 TRAM2 9697 genome.wustl.edu 37 6 52370434 52370434 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012288.3 -1 reviewed p.D280Y 1.000 131 0% 103 23.3% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 GSTA2 2939 genome.wustl.edu 37 6 52621099 52621099 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000846.4 -1 reviewed p.E32D 0.954 168 0% 116 20.7% 0 - probably_damaging(0.97) tolerated(0.05) deleterious(0.758) HMMPfam_GST_N,superfamily_Thiordxn-like_fd GSTA3 2940 genome.wustl.edu 37 6 52764785 52764785 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000847.4 -1 reviewed p.I121L 0.000 835 0% 897 22.7% 0 - benign(0) tolerated(1) - HMMPfam_GST_C,superfamily_Glutathione S-transferase (GST) C-terminal domain GSTA3 2940 genome.wustl.edu 37 6 52768488 52768488 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000847.4 -1 reviewed p.G42E 0.306 254 0% 198 31.3% 0 - benign(0) tolerated(1) - HMMPfam_GST_N,superfamily_Thioredoxin-like GSTA3 2940 genome.wustl.edu 37 6 52768517 52768517 + Missense_Mutation SNP C C A rs186026850 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000847.4 -1 reviewed p.E32D 0.435 229 0% 180 29.4% 0 - probably_damaging(0.983) tolerated(0.05) deleterious(0.774) HMMPfam_GST_N,superfamily_Thioredoxin-like GSTA4 2941 genome.wustl.edu 37 6 52850330 52850330 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001512.3 -1 reviewed p.K64T 1.000 157 0% 156 33.3% 27 74% benign(0.053) deleterious(0.02) neutral(0.387) HMMPfam_GST_N,superfamily_Thioredoxin-like ICK 22858 genome.wustl.edu 37 6 52906032 52906032 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014920.3 -1 reviewed p.M1I 1.000 144 0% 134 26.1% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FBXO9 26268 genome.wustl.edu 37 6 52938298 52938298 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012347.4 +1 reviewed p.R47Q 1.000 49 0% 66 31.8% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GCLC 2729 genome.wustl.edu 37 6 53385599 53385599 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000513939 -1 known p.F129C 0.999 250 0% 180 21.7% 2 50% - - - superfamily_Glutamine synthetase/guanido kinase KLHL31 401265 genome.wustl.edu 37 6 53519255 53519255 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001003760.4 -1 validated p.V272 0.998 165 0% 172 37.2% 0 - - - - HMMPfam_BACK TINAG 27283 genome.wustl.edu 37 6 54173469 54173469 + Missense_Mutation SNP G G A rs180999314 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014464.3 +1 validated p.V41I 0.000 915 0% 932 16.1% 0 - benign(0) tolerated(0.94) - NULL TINAG 27283 genome.wustl.edu 37 6 54212180 54212180 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014464.3 +1 validated p.R255Q 1.000 138 0% 132 25.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C1,HMMSmart_SM00645,superfamily_Cysteine proteinases FAM83B 222584 genome.wustl.edu 37 6 54735453 54735453 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010872.1 +1 validated p.E137* 1.000 170 0% 130 26.2% 0 - - - - HMMPfam_DUF1669,superfamily_SSF56024 FAM83B 222584 genome.wustl.edu 37 6 54792312 54792312 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010872.1 +1 validated p.R206* 1.000 133 0% 155 29% 0 - - - - HMMPfam_DUF1669,superfamily_SSF56024 FAM83B 222584 genome.wustl.edu 37 6 54805598 54805598 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010872.1 +1 validated p.K610R 0.907 229 0% 235 24.7% 1 0% possibly_damaging(0.883) deleterious(0.02) deleterious(0.728) NULL HCRTR2 3062 genome.wustl.edu 37 6 55147252 55147252 + Nonstop_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001526.3 +1 reviewed p.*445Y 1.000 80 0% 68 29.4% 0 - - - - NULL BMP5 653 genome.wustl.edu 37 6 55739585 55739585 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021073.2 -1 reviewed p.G27* 1.000 574 0% 600 16.8% 0 - - - - NULL COL21A1 81578 genome.wustl.edu 37 6 55929421 55929421 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030820.3 -1 reviewed e23-1 1.000 50 0% 27 22.2% 0 - - - - - COL21A1 81578 genome.wustl.edu 37 6 55932104 55932104 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030820.3 -1 reviewed p.K706Q 1.000 167 0% 170 27.6% 0 - benign(0.025) tolerated(0.54) neutral(0.009) HMMPfam_Collagen COL21A1 81578 genome.wustl.edu 37 6 55990341 55990341 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000456983 -1 known p.S122I 0.003 87 0% 45 20% 0 - unknown(0) tolerated(0.06) - NULL COL21A1 81578 genome.wustl.edu 37 6 56035595 56035595 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030820.3 -1 reviewed p.K293T 1.000 66 0% 68 35.3% 0 - probably_damaging(0.982) tolerated(0.1) deleterious(0.713) HMMSmart_SM00210 DST 667 genome.wustl.edu 37 6 56334987 56334987 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015548.4 -1 reviewed p.A4849V 1.000 69 0% 55 21.8% 6 0% probably_damaging(0.998) - - HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand DST 667 genome.wustl.edu 37 6 56470075 56470075 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000370769 -1 known p.K2906N 0.007 110 0% 96 18.8% 0 - benign(0.073) deleterious(0) neutral(0.450) PatternScan_RIBOSOMAL_L23 DST 667 genome.wustl.edu 37 6 56473616 56473616 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000370769 -1 known p.R1726I 1.000 92 0% 64 15.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Plakin repeat DST 667 genome.wustl.edu 37 6 56473729 56473729 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000370769 -1 known p.Q1688H 0.993 261 0% 195 21% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat DST 667 genome.wustl.edu 37 6 56483538 56483538 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001723.5 -1 reviewed p.K1765T 0.998 379 0% 349 23.5% 0 - possibly_damaging(0.922) tolerated(0.26) neutral(0.405) NULL DST 667 genome.wustl.edu 37 6 56492074 56492074 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015548.4 -1 reviewed p.S1013 0.973 221 0% 196 23.5% 0 - - - - HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56507231 56507231 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015548.4 -1 reviewed p.L80I 0.999 145 0% 133 29.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL DST 667 genome.wustl.edu 37 6 56569163 56569163 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000370769 -1 known p.R53Q 1.000 20 0% 31 16.1% 0 - probably_damaging(0.999) tolerated(0.15) deleterious(0.732) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain KIAA1586 57691 genome.wustl.edu 37 6 56917725 56917725 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020931.2 +1 validated p.F143C 0.955 152 0% 123 30.9% 0 - benign(0.026) tolerated(0.08) neutral(0.301) NULL KIAA1586 57691 genome.wustl.edu 37 6 56918079 56918079 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020931.2 +1 validated p.R261I 0.507 143 0% 107 20.6% 0 - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL ZNF451 26036 genome.wustl.edu 37 6 56999628 56999628 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001031623.2 +1 validated p.F221C 1.000 81 0% 73 31.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00355 KHDRBS2 202559 genome.wustl.edu 37 6 62611258 62611258 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152688.2 -1 validated p.R168C 1.000 115 0% 131 32.1% 0 - probably_damaging(1) tolerated(0.24) deleterious(0.537) superfamily_SSF54791 KHDRBS2 202559 genome.wustl.edu 37 6 62995779 62995779 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152688.2 -1 validated p.S25 0.999 33 0% 26 26.9% 0 - - - - NULL LGSN 51557 genome.wustl.edu 37 6 63990287 63990287 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016571.2 -1 reviewed p.S390I 1.000 220 0% 163 23.3% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Gln-synt_C,superfamily_Glutamine synthetase/guanido kinase PHF3 23469 genome.wustl.edu 37 6 64422602 64422602 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015153.2 +1 provisional p.K1706N 0.936 225 0% 199 32.2% 9 55.5% possibly_damaging(0.671) tolerated(0.05) deleterious(0.583) NULL PHF3 23469 genome.wustl.edu 37 6 64422704 64422704 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015153.2 +1 provisional p.Q1740 0.664 259 0% 240 25% 4 100% - - - NULL PHF3 23469 genome.wustl.edu 37 6 64423290 64423290 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015153.2 +1 provisional p.E1936* 1.000 335 0% 256 28.9% 14 42.8% - - - NULL EYS 346007 genome.wustl.edu 37 6 66205032 66205032 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142800.1 -1 reviewed p.S91Y 1.000 232 0% 140 22.1% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL BAI3 577 genome.wustl.edu 37 6 70049385 70049385 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001704.2 +1 reviewed p.L1150I 1.000 300 0% 293 18.1% 0 - possibly_damaging(0.923) deleterious(0.01) deleterious(0.778) HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 BAI3 577 genome.wustl.edu 37 6 70092778 70092778 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001704.2 +1 reviewed p.K1444T 1.000 132 0% 79 16.5% 0 - possibly_damaging(0.907) deleterious(0.01) deleterious(0.766) NULL COL19A1 1310 genome.wustl.edu 37 6 70610155 70610155 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001858.4 +1 reviewed p.S64Y 1.000 84 0% 59 25.4% 0 - unknown(0) deleterious(0.03) - HMMSmart_TSPN FAM135A 57579 genome.wustl.edu 37 6 71195905 71195905 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020819.4 +1 validated p.L244I 1.000 75 0% 53 32.1% 0 - possibly_damaging(0.888) tolerated(0.25) neutral(0.384) NULL RIMS1 22999 genome.wustl.edu 37 6 72889450 72889450 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014989.4 +1 reviewed p.R215Q 1.000 107 0% 79 19% 0 - possibly_damaging(0.855) tolerated(0.45) neutral(0.342) NULL RIMS1 22999 genome.wustl.edu 37 6 73108756 73108756 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014989.4 +1 reviewed p.S1607F 1.000 285 0% 147 28.6% 0 - benign(0.279) tolerated(0.54) neutral(0.037) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) DPPA5 340168 genome.wustl.edu 37 6 74063066 74063066 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001025290.1 -1 provisional p.E110K 0.001 128 0% 154 32.5% 0 - benign(0.002) tolerated(0.12) neutral(0.261) NULL CD109 135228 genome.wustl.edu 37 6 74476569 74476569 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133493.3 +1 reviewed p.D474Y 1.000 583 0% 531 14.1% 0 - benign(0.002) deleterious(0.04) neutral(0.349) HMMPfam_A2M_N_2 COL12A1 1303 genome.wustl.edu 37 6 75818823 75818823 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004370.5 -1 reviewed p.E2671* 1.000 168 0% 121 22.3% 0 - - - - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases COL12A1 1303 genome.wustl.edu 37 6 75827140 75827140 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004370.5 -1 reviewed p.E2493K 0.872 189 0% 184 12% 11 0% benign(0.004) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL12A1 1303 genome.wustl.edu 37 6 75860980 75860980 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004370.5 -1 reviewed p.E1342K 1.000 177 0% 153 32.7% 1 0% probably_damaging(0.987) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL12A1 1303 genome.wustl.edu 37 6 75862060 75862060 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004370.5 -1 reviewed p.R1235K 1.000 108 0% 138 23.9% 0 - benign(0.016) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL12A1 1303 genome.wustl.edu 37 6 75875478 75875478 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004370.5 -1 reviewed p.D910Y 0.051 227 0% 264 28% 0 - possibly_damaging(0.921) - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III COL12A1 1303 genome.wustl.edu 37 6 75898228 75898228 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004370.5 -1 reviewed p.E283* 1.000 332 0% 286 32.9% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like TMEM30A 55754 genome.wustl.edu 37 6 75969151 75969151 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018247.3 -1 validated p.L199F 1.000 248 0% 140 27.9% 2 0% benign(0.037) tolerated(0.08) neutral(0.302) HMMPfam_CDC50 FILIP1 27145 genome.wustl.edu 37 6 76024113 76024113 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015687.2 -1 validated p.E479* 1.000 399 0% 380 25.8% 0 - - - - HMMPfam_CortBP2 FILIP1 27145 genome.wustl.edu 37 6 76063419 76063419 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015687.2 -1 validated p.E155 1.000 90 0% 113 35.4% 0 - - - - HMMPfam_CortBP2 SENP6 26054 genome.wustl.edu 37 6 76344476 76344476 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015571.2 +1 validated p.R136H 1.000 55 0% 55 38.2% 3 66.6% probably_damaging(0.998) tolerated(0.14) deleterious(0.724) NULL MYO6 4646 genome.wustl.edu 37 6 76599898 76599898 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004999.3 +1 reviewed p.R928H 0.544 251 0% 200 25.5% 11 45.4% unknown(0) tolerated(0.07) - NULL IMPG1 3617 genome.wustl.edu 37 6 76715036 76715036 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001563.2 -1 provisional p.S368Y 0.917 221 0% 183 26.2% 0 - possibly_damaging(0.938) tolerated(0.16) neutral(0.443) NULL HTR1B 3351 genome.wustl.edu 37 6 78172982 78172982 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000863.1 -1 provisional p.P47T 1.000 52 0% 63 20.6% 0 - benign(0.06) tolerated(0.31) neutral(0.031) superfamily_Family A G protein-coupled receptor-like IRAK1BP1 134728 genome.wustl.edu 37 6 79607661 79607661 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010844.1 +1 provisional p.S166Y 0.999 277 0% 199 13.1% 3 0% possibly_damaging(0.92) tolerated(0.09) deleterious(0.667) HMMPfam_DUF541 PHIP 55023 genome.wustl.edu 37 6 79655853 79655853 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017934.5 -1 validated p.E1499* 0.998 378 0% 357 22.4% 2 0% - - - NULL PHIP 55023 genome.wustl.edu 37 6 79668241 79668241 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017934.5 -1 validated p.I1245V 1.000 148 0% 104 25% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain PHIP 55023 genome.wustl.edu 37 6 79672846 79672846 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017934.5 -1 validated p.I1168S 1.000 539 0% 403 32.8% 3 33.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain PHIP 55023 genome.wustl.edu 37 6 79672943 79672943 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017934.5 -1 validated p.S1136G 1.000 340 0% 266 32.3% 0 - benign(0.107) tolerated(0.5) neutral(0.019) NULL HMGN3 9324 genome.wustl.edu 37 6 79911410 79911410 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004242.2 -1 reviewed p.E99* 1.000 141 0% 105 25.7% 171 46.1% - - - NULL TTK 7272 genome.wustl.edu 37 6 80715624 80715624 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003318.4 +1 reviewed p.D22Y 1.000 214 0% 161 22.4% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TTK 7272 genome.wustl.edu 37 6 80746296 80746296 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003318.4 +1 reviewed p.S677R 1.000 169 0.6% 121 27.3% 8 12.5% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase BCKDHB 594 genome.wustl.edu 37 6 80982905 80982905 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000056.3 +1 reviewed p.G335 0.972 156 0% 113 27.4% 6 66.6% - - - HMMPfam_Transketolase_C,superfamily_TK C-terminal domain-like IBTK 25998 genome.wustl.edu 37 6 82935291 82935291 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015525.2 -1 reviewed p.V243A 1.000 102 0% 116 31.9% 5 20% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) superfamily_RCC1/BLIP-II IBTK 25998 genome.wustl.edu 37 6 82949920 82949920 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015525.2 -1 reviewed p.F95C 1.000 134 0.7% 146 27.4% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat UBE3D 90025 genome.wustl.edu 37 6 83728789 83728789 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198920.1 -1 provisional p.F305L 0.392 149 0% 68 16.2% 1 0% possibly_damaging(0.949) tolerated(0.33) neutral(0.417) HMMPfam_DUF2351 DOPEY1 23033 genome.wustl.edu 37 6 83848462 83848462 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015018.2 +1 validated p.F1567L 0.980 204 0% 177 27.7% 1 100% benign(0.01) tolerated(0.71) neutral(0.002) NULL DOPEY1 23033 genome.wustl.edu 37 6 83856993 83856993 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015018.2 +1 validated p.F1905L 1.000 92 0% 68 16.2% 0 - possibly_damaging(0.476) tolerated(0.77) neutral(0.158) NULL DOPEY1 23033 genome.wustl.edu 37 6 83862061 83862061 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015018.2 +1 validated p.V2035A 1.000 138 0% 117 33.3% 3 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL DOPEY1 23033 genome.wustl.edu 37 6 83865766 83865766 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015018.2 +1 validated p.F2183C 1.000 173 0% 143 28% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRSS35 167681 genome.wustl.edu 37 6 84234152 84234152 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153362.2 +1 validated p.S331Y 1.000 222 0% 169 14.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys MRAP2 112609 genome.wustl.edu 37 6 84772652 84772652 + Silent SNP C C T rs150284745 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138409.2 +1 validated p.F56 0.829 351 0% 275 26.9% 0 - - - - NULL KIAA1009 22832 genome.wustl.edu 37 6 84865186 84865186 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014895.2 -1 validated p.S942Y 1.000 321 0% 281 28.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL HTR1E 3354 genome.wustl.edu 37 6 87725686 87725686 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000865.2 +1 validated p.L212I 1.000 326 0% 325 25.5% 0 - probably_damaging(0.998) tolerated(0.42) deleterious(0.488) HMMPfam_7tm_1,superfamily_SSF81321 ZNF292 23036 genome.wustl.edu 37 6 87969153 87969153 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015021.1 +1 validated p.E1936* 1.000 56 0% 52 28.8% 0 - - - - NULL ZNF292 23036 genome.wustl.edu 37 6 87970379 87970379 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015021.1 +1 validated p.K2344N 0.984 203 0% 162 31.5% 0 - probably_damaging(0.977) deleterious(0.02) deleterious(0.802) NULL C6orf162 57150 genome.wustl.edu 37 6 88046785 88046785 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042493.1 +1 validated p.K12N 0.889 333 0% 313 20.1% 5 40% benign(0) tolerated(0.14) neutral(0.249) NULL ORC3 23595 genome.wustl.edu 37 6 88313169 88313169 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181837.1 +1 reviewed p.S82Y 0.602 188 0.5% 121 24% 0 - benign(0.264) tolerated(0.07) neutral(0.347) HMMPfam_ORC3_N ORC3 23595 genome.wustl.edu 37 6 88367685 88367685 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181837.1 +1 reviewed p.K548T 0.651 91 0% 74 40.5% 27 51.8% benign(0.403) tolerated(0.13) neutral(0.382) NULL SPACA1 81833 genome.wustl.edu 37 6 88767409 88767409 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030960.2 +1 reviewed p.C115 1.000 78 0% 44 27.3% 0 - - - - NULL CNR1 1268 genome.wustl.edu 37 6 88854253 88854253 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016083.4 -1 reviewed p.I247 0.009 69 0% 60 10% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RNGTT 8732 genome.wustl.edu 37 6 89511327 89511327 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003800.3 -1 validated p.E432* 1.000 202 0% 118 26.3% 0 - - - - HMMPfam_mRNA_cap_enzyme,superfamily_DNA ligase/mRNA capping enzyme catalytic domain GABRR1 2569 genome.wustl.edu 37 6 89895099 89895099 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002042.3 -1 reviewed p.R242 1.000 268 0% 249 22.1% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like MDN1 23195 genome.wustl.edu 37 6 90393043 90393043 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014611.1 -1 provisional p.L3970 0.999 51 0% 57 19.3% 0 - - - - NULL MDN1 23195 genome.wustl.edu 37 6 90409352 90409352 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014611.1 -1 provisional p.R2989* 0.637 185 0% 149 32.9% 0 - - - - NULL EPHA7 2045 genome.wustl.edu 37 6 93973600 93973600 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004440.3 -1 reviewed p.G592 0.837 137 0% 171 30.4% 3 33.3% - - - NULL UFL1 23376 genome.wustl.edu 37 6 96985307 96985307 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015323.4 +1 validated p.R287I 1.000 200 0% 219 28.8% 6 33.3% possibly_damaging(0.767) tolerated(0.06) deleterious(0.607) NULL UFL1 23376 genome.wustl.edu 37 6 97001344 97001344 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015323.4 +1 validated p.L784I 1.000 119 0% 99 29.3% 5 20% probably_damaging(0.987) tolerated(0.29) neutral(0.466) NULL FHL5 9457 genome.wustl.edu 37 6 97063516 97063516 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020482.4 +1 reviewed p.Q241 1.000 150 0% 102 18.6% 0 - - - - HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 GPR63 81491 genome.wustl.edu 37 6 97246445 97246445 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001143957.1 -1 validated p.K388T 1.000 201 0% 122 31.1% 0 - possibly_damaging(0.492) deleterious(0.02) deleterious(0.547) superfamily_Family A G protein-coupled receptor-like MMS22L 253714 genome.wustl.edu 37 6 97677022 97677022 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198468.2 -1 predicted p.S596* 0.998 155 0% 205 29.8% 0 - - - - NULL USP45 85015 genome.wustl.edu 37 6 99936646 99936646 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080481.1 -1 provisional p.E177* 0.949 123 0% 64 20.3% 0 - - - - NULL ASCC3 10973 genome.wustl.edu 37 6 101053536 101053536 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006828.2 -1 validated p.F1695 1.000 91 0% 89 31.5% 5 0% - - - superfamily_SSF52540 GRIK2 2898 genome.wustl.edu 37 6 102124560 102124560 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021956.4 +1 reviewed p.R202S 1.000 151 0% 116 20.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRIK2 2898 genome.wustl.edu 37 6 102483389 102483389 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021956.4 +1 reviewed p.T753 1.000 485 0% 560 25.2% 3 0% - - - HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II POPDC3 64208 genome.wustl.edu 37 6 105609758 105609758 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022361.4 -1 reviewed p.K9N 0.843 132 0% 178 30.3% 1 100% benign(0.071) tolerated(0.41) neutral(0.020) NULL AIM1 202 genome.wustl.edu 37 6 106987294 106987294 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001624.2 +1 validated p.E1171* 1.000 234 0% 259 22% 1 0% - - - HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF AIM1 202 genome.wustl.edu 37 6 107000084 107000084 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001624.2 +1 validated p.R1414Q 0.966 139 0% 103 25.2% 0 - possibly_damaging(0.673) tolerated(0.35) neutral(0.260) superfamily_G_crystallin_SF RTN4IP1 84816 genome.wustl.edu 37 6 107076714 107076714 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032730.4 -1 reviewed p.Q61H 0.992 175 0% 228 28.1% 20 25% possibly_damaging(0.445) tolerated(0.06) neutral(0.468) superfamily_GroES-like C6orf203 51250 genome.wustl.edu 37 6 107365516 107365516 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142470.1 +1 validated p.L180V 0.997 153 0% 178 21.9% 16 43.7% probably_damaging(0.988) tolerated(0.09) deleterious(0.734) NULL SCML4 256380 genome.wustl.edu 37 6 108066263 108066263 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198081.3 -1 validated p.K191R 1.000 19 0% 21 28.6% 0 - probably_damaging(0.998) tolerated(0.25) deleterious(0.511) NULL LACE1 246269 genome.wustl.edu 37 6 108676882 108676882 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145315.3 +1 reviewed p.D147G 1.000 156 0% 162 21% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AFG1_ATPase,superfamily_SSF52540 AKD1 221264 genome.wustl.edu 37 6 109827541 109827541 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000470564 -1 known p.E451* 1.000 177 0% 132 23.5% 0 - possibly_damaging(0.929) tolerated(0.46) neutral(0.388) superfamily_P-loop containing nucleoside triphosphate hydrolases AKD1 221264 genome.wustl.edu 37 6 109863281 109863281 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000424296 -1 known p.L186I 0.820 124 0% 76 27.6% 0 - possibly_damaging(0.866) tolerated(0.19) neutral(0.385) superfamily_SSF52540 AKD1 221264 genome.wustl.edu 37 6 109980442 109980442 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145128.2 -1 provisional p.E207K 1.000 143 0% 96 33.3% 1 0% probably_damaging(0.984) tolerated(0.14) deleterious(0.680) HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases FIG4 9896 genome.wustl.edu 37 6 110037745 110037745 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014845.5 +1 reviewed p.R88Q 1.000 356 0% 293 18.4% 1 0% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) NULL CDC40 51362 genome.wustl.edu 37 6 110528719 110528719 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015891.2 +1 reviewed p.L139F 0.995 174 0% 149 16.8% 2 0% possibly_damaging(0.795) tolerated(0.06) deleterious(0.621) NULL METTL24 728464 genome.wustl.edu 37 6 110620165 110620165 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001123364.1 -1 inferred p.R249I 1.000 227 0% 251 25.9% 0 - possibly_damaging(0.838) deleterious(0.03) deleterious(0.684) NULL SLC22A16 85413 genome.wustl.edu 37 6 110763569 110763569 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033125.2 -1 provisional p.S354I 0.019 455 0% 418 23.2% 1 0% possibly_damaging(0.856) deleterious(0.01) deleterious(0.736) HMMPfam_MFS_1,superfamily_MFS general substrate transporter RPF2 84154 genome.wustl.edu 37 6 111310216 111310216 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000454951 +1 known p.N9H 0.501 68 0% 77 24.7% 0 - possibly_damaging(0.886) - - HMMPfam_Brix RPF2 84154 genome.wustl.edu 37 6 111337050 111337050 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032194.1 +1 validated p.R196Q 1.000 78 0% 81 23.5% 24 20.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Brix REV3L 5980 genome.wustl.edu 37 6 111694539 111694539 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002912.3 -1 validated p.L1673F 1.000 239 0% 180 28.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Ribonuclease H-like REV3L 5980 genome.wustl.edu 37 6 111694807 111694807 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002912.3 -1 validated p.R1584Q 1.000 702 0% 531 22.4% 0 - possibly_damaging(0.883) deleterious(0) deleterious(0.789) superfamily_Ribonuclease H-like REV3L 5980 genome.wustl.edu 37 6 111710353 111710353 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002912.3 -1 validated p.R273I 1.000 470 0% 397 29.2% 0 - probably_damaging(0.998) - - superfamily_Ribonuclease H-like FYN 2534 genome.wustl.edu 37 6 112015891 112015891 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002037.3 -1 reviewed p.F353L 1.000 268 0% 258 28.7% 9 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) TUBE1 51175 genome.wustl.edu 37 6 112397272 112397272 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016262.4 -1 reviewed p.S227Y 1.000 241 0% 182 24.2% 0 - benign(0.133) deleterious(0.03) neutral(0.376) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like TUBE1 51175 genome.wustl.edu 37 6 112407803 112407803 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016262.4 -1 reviewed p.I36M 1.000 45 0% 46 28.3% 5 60% possibly_damaging(0.459) deleterious(0.03) deleterious(0.515) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like LAMA4 3910 genome.wustl.edu 37 6 112460366 112460366 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105206.1 -1 reviewed p.R1080* 0.984 425 0% 224 28.1% 2 0% - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 NT5DC1 221294 genome.wustl.edu 37 6 116560282 116560282 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152729.2 +1 reviewed p.I416 0.906 110 0% 76 35.5% 16 31.2% - - - HMMPfam_5_nucleotid DSE 29940 genome.wustl.edu 37 6 116758194 116758194 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080976.1 +1 reviewed p.E855* 1.000 134 0% 151 32.5% 3 33.3% - - - NULL KPNA5 3841 genome.wustl.edu 37 6 117050895 117050895 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002269.2 +1 reviewed p.E475K 1.000 284 0% 294 35% 1 0% probably_damaging(1) deleterious(0.05) deleterious(0.845) superfamily_ARM repeat FAM162B 221303 genome.wustl.edu 37 6 117086375 117086375 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001085480.2 -1 validated p.F72 0.986 40 0% 36 41.7% 0 - - - - HMMPfam_DUF1075 GPRC6A 222545 genome.wustl.edu 37 6 117113328 117113328 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_148963.2 -1 validated p.R920* 0.510 511 0% 471 20.2% 0 - - - - NULL GPRC6A 222545 genome.wustl.edu 37 6 117114214 117114214 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_148963.2 -1 validated p.V624 0.975 353 0% 317 36% 0 - - - - HMMPfam_7tm_3 GPRC6A 222545 genome.wustl.edu 37 6 117127966 117127966 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_148963.2 -1 validated p.A301D 1.000 280 0% 255 27.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GPRC6A 222545 genome.wustl.edu 37 6 117128327 117128327 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_148963.2 -1 validated p.R181C 0.309 357 0% 313 32.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I RFX6 222546 genome.wustl.edu 37 6 117240311 117240311 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173560.2 +1 validated p.D345A 1.000 140 0% 138 19.6% 0 - probably_damaging(1) tolerated(0.4) deleterious(0.516) NULL RFX6 222546 genome.wustl.edu 37 6 117245947 117245947 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173560.2 +1 validated p.K557N 1.000 137 0% 122 23% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ROS1 6098 genome.wustl.edu 37 6 117647532 117647532 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002944.2 -1 reviewed p.K1804N 0.830 154 0% 93 25.8% 0 - benign(0.039) tolerated(0.46) neutral(0.014) HMMSmart_FN3,superfamily_FN_III-like ROS1 6098 genome.wustl.edu 37 6 117663595 117663595 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002944.2 -1 reviewed p.G1546E 1.000 179 0% 108 34.3% 0 - benign(0.21) deleterious(0.02) neutral(0.404) NULL ROS1 6098 genome.wustl.edu 37 6 117710875 117710875 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002944.2 -1 reviewed p.R466Q 0.982 135 0% 105 39% 0 - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) superfamily_SSF63825 FAM184A 79632 genome.wustl.edu 37 6 119285843 119285843 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024581.4 -1 validated p.P1043T 1.000 42 0% 48 22.9% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL C6orf170 221322 genome.wustl.edu 37 6 121563367 121563367 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152730.4 -1 validated p.R713* 0.800 229 0% 173 24.9% 0 - - - - NULL C6orf170 221322 genome.wustl.edu 37 6 121613231 121613231 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152730.4 -1 validated p.K447T 0.979 230 0% 142 34.5% 0 - benign(0.411) tolerated(0.5) neutral(0.143) NULL C6orf170 221322 genome.wustl.edu 37 6 121624829 121624829 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152730.4 -1 validated p.K338N 0.991 171 0% 69 30.4% 0 - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL GJA1 2697 genome.wustl.edu 37 6 121768294 121768294 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000165.3 +1 reviewed p.R101* 0.971 114 0% 124 26.6% 25 36% - - - HMMPfam_Connexin SERINC1 57515 genome.wustl.edu 37 6 122766249 122766249 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020755.2 -1 provisional p.I434 0.158 145 0% 94 21.3% 35 28.5% - - - HMMPfam_Serinc TRDN 10345 genome.wustl.edu 37 6 123687296 123687296 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006073.2 -1 validated p.A435 0.996 185 0% 169 11.8% 0 - - - - NULL NCOA7 135112 genome.wustl.edu 37 6 126210198 126210198 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181782.3 +1 validated p.R333L 1.000 318 0% 282 27% 0 - benign(0.11) deleterious(0.01) neutral(0.414) NULL NCOA7 135112 genome.wustl.edu 37 6 126210307 126210307 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181782.3 +1 validated p.E369D 0.000 237 0% 224 22.8% 0 - benign(0) tolerated(0.3) neutral(0.029) NULL TRMT11 60487 genome.wustl.edu 37 6 126319454 126319454 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001031712.2 +1 validated p.R127Q 0.996 240 0% 134 28.4% 0 - possibly_damaging(0.747) tolerated(0.06) deleterious(0.597) NULL ECHDC1 55862 genome.wustl.edu 37 6 127611308 127611308 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001139510.1 -1 validated p.K210N 1.000 324 0% 250 28% 32 40.6% benign(0.156) tolerated(0.27) neutral(0.048) HMMPfam_ECH,superfamily_ClpP/crotonase ECHDC1 55862 genome.wustl.edu 37 6 127652168 127652168 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001139510.1 -1 validated p.A8 0.017 101 0% 84 26.2% 14 14.2% - - - NULL LAMA2 3908 genome.wustl.edu 37 6 129573320 129573320 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000426.3 +1 reviewed p.S659* 0.068 143 0.7% 99 35.4% 0 - - - - HMMPfam_Laminin_B,superfamily_ConA_like_lec_gl,HMMSmart_LamB LAMA2 3908 genome.wustl.edu 37 6 129581958 129581958 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000426.3 +1 reviewed p.S733 0.985 226 0% 252 31% 0 - - - - superfamily_ConA_like_lec_gl,PatternScan_EGF_1,PatternScan_EGF_2 LAMA2 3908 genome.wustl.edu 37 6 129687395 129687395 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000426.3 +1 reviewed p.L1583 0.986 153 0.7% 109 32.1% 3 0% - - - superfamily_ConA_like_lec_gl LAMA2 3908 genome.wustl.edu 37 6 129712668 129712668 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000426.3 +1 reviewed p.T1702A 1.000 501 0% 374 14.2% 0 - probably_damaging(1) tolerated(0.59) deleterious(0.504) superfamily_ConA_like_lec_gl,HMMPfam_Laminin_I LAMA2 3908 genome.wustl.edu 37 6 129775318 129775318 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000426.3 +1 reviewed p.E2198* 1.000 91 0% 89 42.7% 0 - - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_1 LAMA2 3908 genome.wustl.edu 37 6 129835569 129835569 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000426.3 +1 reviewed p.A3014T 1.000 128 0% 160 23.7% 16 0% benign(0) tolerated(0.06) neutral(0.323) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 L3MBTL3 84456 genome.wustl.edu 37 6 130454721 130454721 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032438.1 +1 validated p.V697 0.305 109 0% 123 24.4% 1 0% - - - NULL SAMD3 154075 genome.wustl.edu 37 6 130467298 130467298 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001017373.2 -1 validated p.R351I 1.000 215 0% 163 23.3% 1 0% possibly_damaging(0.805) deleterious(0.02) deleterious(0.686) NULL SAMD3 154075 genome.wustl.edu 37 6 130505720 130505720 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001017373.2 -1 validated p.T144 0.176 316 0% 249 28.1% 3 0% - - - NULL MED23 9439 genome.wustl.edu 37 6 131929091 131929091 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004830.2 -1 reviewed p.D400N 1.000 193 0% 201 26.9% 1 100% possibly_damaging(0.61) tolerated(0.28) neutral(0.243) NULL CTAGE9 643854 genome.wustl.edu 37 6 132030203 132030203 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145659.1 -1 provisional p.K652R 0.000 537 0% 390 15.6% 1 0% probably_damaging(0.999) tolerated(0.13) deleterious(0.743) NULL CTAGE9 643854 genome.wustl.edu 37 6 132030636 132030636 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145659.1 -1 provisional p.D508N 0.000 429 0% 370 22.2% 0 - probably_damaging(0.992) tolerated(0.17) deleterious(0.506) NULL TAAR9 134860 genome.wustl.edu 37 6 132860466 132860466 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175057.3 +1 reviewed p.E346D 0.000 55 0% 68 36.8% 0 - benign(0) tolerated(0.67) neutral(0.003) superfamily_Family A G protein-coupled receptor-like VNN2 8875 genome.wustl.edu 37 6 133073750 133073750 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004665.2 -1 reviewed p.D226Y 0.191 432 0% 465 33.5% 2 100% probably_damaging(0.976) deleterious(0.01) deleterious(0.824) superfamily_Ntlse/CNhydtse EYA4 2070 genome.wustl.edu 37 6 133804194 133804194 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004100.4 +1 reviewed p.E378* 1.000 146 0% 124 20.2% 0 - - - - HMMPfam_Hydrolase BCLAF1 9774 genome.wustl.edu 37 6 136597111 136597111 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014739.2 -1 reviewed p.N518H 1.000 474 0% 569 10.7% 3 0% unknown(0) - - NULL MAP3K5 4217 genome.wustl.edu 37 6 136913420 136913420 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005923.3 -1 reviewed p.S1039Y 1.000 263 0% 236 28.4% 2 100% possibly_damaging(0.911) deleterious(0.04) deleterious(0.712) NULL MAP3K5 4217 genome.wustl.edu 37 6 137019666 137019666 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005923.3 -1 reviewed p.R256H 1.000 159 0% 168 22% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC35D3 340146 genome.wustl.edu 37 6 137245432 137245432 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008783.1 +1 provisional p.F283L 1.000 25 0% 21 38.1% 0 - probably_damaging(0.995) tolerated(1) neutral(0.458) HMMPfam_UAA IL20RA 53832 genome.wustl.edu 37 6 137325829 137325829 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014432.2 -1 reviewed p.L265I 0.979 279 0% 273 25.6% 5 20% benign(0.018) tolerated(0.57) neutral(0.007) NULL ECT2L 345930 genome.wustl.edu 37 6 139197634 139197634 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001077706.1 +1 validated p.S535Y 0.055 79 0% 67 35.8% 0 - benign(0.013) tolerated(0.1) neutral(0.287) NULL ECT2L 345930 genome.wustl.edu 37 6 139206668 139206668 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001077706.1 +1 validated p.R685Q 1.000 173 0% 156 22.4% 0 - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain ECT2L 345930 genome.wustl.edu 37 6 139206840 139206840 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001077706.1 +1 validated p.R711Q 0.339 160 0% 151 26.5% 0 - benign(0.031) tolerated(1) neutral(0.002) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain REPS1 85021 genome.wustl.edu 37 6 139265101 139265101 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031922.3 -1 validated p.R269C 1.000 176 0.6% 144 29.9% 9 22.2% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_SSF47473 LTV1 84946 genome.wustl.edu 37 6 144179020 144179020 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032860.3 +1 provisional p.R224K 0.010 226 0% 156 34% 16 31.2% benign(0) tolerated(0.5) neutral(0.010) HMMPfam_LTV UTRN 7402 genome.wustl.edu 37 6 144612999 144612999 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007124.2 +1 reviewed p.D12G 0.305 58 0% 64 23.4% 0 - benign(0.029) deleterious(0.01) neutral(0.407) NULL UTRN 7402 genome.wustl.edu 37 6 144795810 144795810 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007124.2 +1 reviewed p.R1084Q 0.760 152 0% 112 35.7% 0 - benign(0.022) tolerated(0.44) neutral(0.014) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin UTRN 7402 genome.wustl.edu 37 6 145157514 145157514 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007124.2 +1 reviewed p.S3301L 1.000 322 0% 259 19.7% 0 - probably_damaging(0.98) tolerated(0.22) neutral(0.466) NULL GRM1 2911 genome.wustl.edu 37 6 146350983 146350983 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000838.3 +1 reviewed p.W110* 1.000 75 0% 61 23% 0 - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 GRM1 2911 genome.wustl.edu 37 6 146755635 146755635 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000838.3 +1 reviewed p.D1096 0.901 66 0% 77 13% 0 - - - - NULL STXBP5 134957 genome.wustl.edu 37 6 147599230 147599230 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127715.1 +1 reviewed p.V243A 0.998 182 0% 155 28.4% 2 100% benign(0.228) tolerated(0.14) neutral(0.272) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 STXBP5 134957 genome.wustl.edu 37 6 147684753 147684753 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127715.1 +1 reviewed p.S943L 1.000 221 0% 175 25.1% 6 16.6% possibly_damaging(0.9) deleterious(0.05) deleterious(0.702) NULL SASH1 23328 genome.wustl.edu 37 6 148852767 148852767 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015278.3 +1 validated p.R512C 1.000 109 0% 65 10.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SASH1 23328 genome.wustl.edu 37 6 148854906 148854906 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015278.3 +1 validated e15-1 1.000 221 0% 162 22.8% 0 - - - - - UST 10090 genome.wustl.edu 37 6 149342530 149342530 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005715.2 +1 validated p.L284F 1.000 142 0% 108 21.3% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_HS2ST ZC3H12D 340152 genome.wustl.edu 37 6 149795498 149795498 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207360.2 -1 validated p.R61Q 0.948 18 0% 17 35.3% 0 - probably_damaging(0.994) tolerated(0.34) deleterious(0.475) NULL PPIL4 85313 genome.wustl.edu 37 6 149854644 149854644 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139126.2 -1 reviewed p.E210* 1.000 214 0% 209 24.4% 1 0% - - - NULL PPIL4 85313 genome.wustl.edu 37 6 149855846 149855846 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139126.2 -1 reviewed p.R177* 1.000 196 0% 181 24.3% 5 0% - - - NULL KATNA1 11104 genome.wustl.edu 37 6 149925801 149925801 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007044.2 -1 reviewed p.R207* 1.000 117 0% 96 21.9% 2 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases KATNA1 11104 genome.wustl.edu 37 6 149944402 149944402 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007044.2 -1 reviewed p.R113I 1.000 159 0% 179 35.2% 10 0% possibly_damaging(0.692) tolerated(0.07) deleterious(0.567) NULL LATS1 9113 genome.wustl.edu 37 6 150001374 150001374 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004690.2 -1 reviewed p.R744* 1.000 448 0.2% 447 22.8% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NUP43 348995 genome.wustl.edu 37 6 150063573 150063573 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198887.1 -1 validated p.R152Q 1.000 72 0% 79 32.9% 4 25% possibly_damaging(0.946) deleterious(0.03) deleterious(0.754) HMMSmart_WD40,superfamily_WD40_like IYD 389434 genome.wustl.edu 37 6 150713566 150713566 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203395.2 +1 reviewed p.I152 0.974 75 0% 53 15.1% 0 - unknown(0) - - HMMPfam_Nitroreductase,superfamily_FMN-dependent nitroreductase-like PLEKHG1 57480 genome.wustl.edu 37 6 151152620 151152620 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001029884.1 +1 provisional p.Q791 0.997 91 0% 61 29.5% 5 60% - - - NULL MTHFD1L 25902 genome.wustl.edu 37 6 151239797 151239797 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015440.3 +1 validated p.R326Q 1.000 176 0% 146 34.2% 4 50% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL MTHFD1L 25902 genome.wustl.edu 37 6 151293095 151293095 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015440.3 +1 validated p.F676L 1.000 157 0% 167 29.9% 14 57.1% benign(0.135) tolerated(0.6) neutral(0.016) HMMPfam_FTHFS,superfamily_P-loop containing nucleoside triphosphate hydrolases AKAP12 9590 genome.wustl.edu 37 6 151626960 151626960 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005100.3 +1 reviewed p.L81I 0.012 55 0% 60 20% 0 - probably_damaging(0.991) tolerated(0.36) neutral(0.464) NULL AKAP12 9590 genome.wustl.edu 37 6 151671147 151671147 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005100.3 +1 reviewed p.D541Y 0.900 109 0% 175 23.4% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SYNE1 23345 genome.wustl.edu 37 6 152476160 152476160 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182961.2 -1 reviewed p.R7999Q 0.996 331 0% 278 18.7% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Spectrin SYNE1 23345 genome.wustl.edu 37 6 152510449 152510449 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182961.2 -1 reviewed p.I7747V 1.000 207 0% 188 23.9% 0 - benign(0.001) tolerated(0.88) - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152534785 152534785 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182961.2 -1 reviewed p.N7486D 1.000 379 0% 229 29.7% 1 0% probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152536190 152536190 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182961.2 -1 reviewed p.Q7399H 1.000 188 0% 87 17.2% 0 - benign(0.008) tolerated(0.79) neutral(0.001) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152557996 152557996 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182961.2 -1 reviewed p.E6719K 1.000 93 0% 67 13.4% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152605163 152605163 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182961.2 -1 reviewed p.R6053* 1.000 151 0% 183 29% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152646280 152646280 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182961.2 -1 reviewed p.A5199V 1.000 157 0% 181 24.3% 0 - benign(0.036) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152652143 152652143 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182961.2 -1 reviewed p.K4559N 0.591 343 0% 275 30.5% 0 - probably_damaging(1) - - HMMPfam_Spectrin,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152673279 152673279 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182961.2 -1 reviewed p.F3821L 0.926 244 0% 196 32.1% 0 - probably_damaging(0.998) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152716683 152716683 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182961.2 -1 reviewed p.V2560 1.000 366 0% 368 26.1% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152763363 152763363 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000367248 -1 known p.L844I 1.000 112 0% 89 18% 0 - - - - superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152832181 152832181 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182961.2 -1 reviewed p.L123I 1.000 290 0% 265 25.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain VIP 7432 genome.wustl.edu 37 6 153077285 153077285 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003381.2 +1 reviewed p.D118Y 1.000 240 0% 184 26.1% 0 - probably_damaging(0.954) deleterious(0) deleterious(0.842) NULL OPRM1 4988 genome.wustl.edu 37 6 154411040 154411040 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145279.1 +1 reviewed p.P217S 1.000 345 0% 354 24.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 IPCEF1 26034 genome.wustl.edu 37 6 154481128 154481128 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130699.1 -1 validated p.P384 0.278 264 0% 236 30.5% 0 - - - - NULL IPCEF1 26034 genome.wustl.edu 37 6 154520910 154520910 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130699.1 -1 validated p.S268R 1.000 457 0% 313 16% 1 0% possibly_damaging(0.531) tolerated(0.11) neutral(0.451) NULL SCAF8 22828 genome.wustl.edu 37 6 155109056 155109056 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014892.3 +1 validated p.R74Q 1.000 293 0% 263 29.3% 1 100% unknown(0) tolerated(0.08) - HMMSmart_RPR,HMMPfam_DUF618,superfamily_ENTH_VHS SCAF8 22828 genome.wustl.edu 37 6 155154194 155154194 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014892.3 +1 validated p.D1161N 1.000 233 0% 101 29.7% 5 60% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TIAM2 26230 genome.wustl.edu 37 6 155574087 155574087 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012454.3 +1 reviewed p.S1375 0.001 64 0% 52 25% 0 - - - - HMMSmart_SM00233,superfamily_PH domain-like ARID1B 57492 genome.wustl.edu 37 6 157527627 157527627 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017519.2 +1 validated p.F1766 0.996 111 0% 138 30.4% 12 50% - - - NULL TMEM242 729515 genome.wustl.edu 37 6 157714019 157714019 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018452.4 -1 validated p.R114* 1.000 182 0% 134 29.9% 10 10% - - - HMMPfam_DUF1358 SYNJ2 8871 genome.wustl.edu 37 6 158517390 158517390 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003898.3 +1 reviewed p.K1495N 0.813 70 0% 64 23.4% 4 0% benign(0.076) deleterious(0) neutral(0.450) NULL TULP4 56995 genome.wustl.edu 37 6 158850873 158850873 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020245.3 +1 validated p.E163K 1.000 333 0% 246 28.9% 1 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMSmart_SM00320,superfamily_WD40 repeat-like TAGAP 117289 genome.wustl.edu 37 6 159459225 159459225 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_054114.3 -1 reviewed p.C273* 1.000 132 0% 128 14.1% 6 0% - - - HMMSmart_SM00324,superfamily_GTPase activation domain GAP TAGAP 117289 genome.wustl.edu 37 6 159463198 159463198 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_054114.3 -1 reviewed p.A76D 0.002 470 0% 438 15.1% 0 - benign(0.282) tolerated(0.62) neutral(0.090) NULL IGF2R 3482 genome.wustl.edu 37 6 160453726 160453726 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000876.2 +1 reviewed p.T342 0.975 156 0% 128 21.9% 0 - - - - HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain IGF2R 3482 genome.wustl.edu 37 6 160465616 160465616 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000876.2 +1 reviewed p.L564 0.367 104 0% 107 36.4% 0 - - - - HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain SLC22A1 6580 genome.wustl.edu 37 6 160557336 160557336 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003057.2 +1 reviewed p.K308N 1.000 149 1.3% 135 25.2% 0 - benign(0.212) tolerated(0.35) neutral(0.041) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A3 6581 genome.wustl.edu 37 6 160864732 160864732 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021977.2 +1 reviewed p.R490W 1.000 60 0% 44 22.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_MFS general substrate transporter LPA 4018 genome.wustl.edu 37 6 160952893 160952893 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005577.2 -1 reviewed p.F1997 0.795 156 0% 210 21.9% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases MAP3K4 4216 genome.wustl.edu 37 6 161529823 161529823 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005922.2 +1 reviewed p.E1390K 0.995 344 0% 292 30.8% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PARK2 5071 genome.wustl.edu 37 6 161966459 161966459 + Missense_Mutation SNP C C T rs147756270 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000366892 -1 known p.R365Q 0.000 78 0% 37 16.2% 0 - unknown(0) - - NULL QKI 9444 genome.wustl.edu 37 6 163984467 163984467 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006775.2 +1 validated p.S217Y 1.000 137 0% 122 35.2% 6 0% unknown(0) deleterious(0.03) - NULL PDE10A 10846 genome.wustl.edu 37 6 165792768 165792768 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130690.1 -1 validated p.D634N 0.003 252 0% 187 26.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 PDE10A 10846 genome.wustl.edu 37 6 165827174 165827174 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130690.1 -1 validated p.E365* 0.944 88 0% 45 31.1% 0 - - - - HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF55781 PDE10A 10846 genome.wustl.edu 37 6 165832255 165832255 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130690.1 -1 validated p.K289T 1.000 156 0% 98 34.7% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF55781 GPR31 2853 genome.wustl.edu 37 6 167570890 167570890 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005299.2 -1 validated p.A144T 0.000 57 0% 63 28.6% 0 - benign(0.099) tolerated(0.35) neutral(0.028) HMMPfam_7tm_1,superfamily_SSF81321 TCP10L2 401285 genome.wustl.edu 37 6 167587310 167587310 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145121.1 +1 inferred p.H72N 0.000 182 0% 165 18.2% 0 - probably_damaging(0.959) deleterious(0.03) deleterious(0.767) NULL TCP10L2 401285 genome.wustl.edu 37 6 167590526 167590526 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145121.1 +1 inferred p.A134 0.007 168 0% 164 11.6% 0 - - - - NULL TTLL2 83887 genome.wustl.edu 37 6 167754505 167754505 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031949.4 +1 validated p.D373Y 1.000 290 0% 444 29.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like KIF25 3834 genome.wustl.edu 37 6 168431493 168431493 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030615.2 +1 reviewed p.D45Y 0.047 65 0% 65 30.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases THBS2 7058 genome.wustl.edu 37 6 169622310 169622310 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003247.2 -1 reviewed p.T1085 0.569 15 0% 14 35.7% 45 0% - - - HMMPfam_TSP_C,superfamily_ConA_like_lec_gl TCTE3 6991 genome.wustl.edu 37 6 170144212 170144212 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174910.1 -1 provisional p.K93N 0.998 127 0% 105 34.3% 0 - benign(0.244) tolerated(0.23) neutral(0.066) NULL DLL1 28514 genome.wustl.edu 37 6 170597456 170597456 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005618.3 -1 reviewed p.E181K 1.000 28 0% 21 33.3% 8 0% possibly_damaging(0.942) deleterious(0.04) deleterious(0.736) HMMPfam_DSL,HMMSmart_SM00051 FAM120B 84498 genome.wustl.edu 37 6 170626742 170626742 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032448.1 +1 provisional p.F88L 1.000 102 0% 88 30.7% 3 0% possibly_damaging(0.789) tolerated(0.1) deleterious(0.583) superfamily_PIN domain-like ZFAND2A 90637 genome.wustl.edu 37 7 1197351 1197351 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182491.2 -1 validated p.D31Y 1.000 248 0% 227 18.1% 1 0% possibly_damaging(0.658) deleterious(0.02) deleterious(0.616) HMMPfam_zf-AN1,HMMSmart_ZnF_AN1 PSMG3 84262 genome.wustl.edu 37 7 1607463 1607463 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134340.1 -1 validated p.K80N 1.000 28 0% 73 19.2% 87 41.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_DUF2372 SDK1 221935 genome.wustl.edu 37 7 3861158 3861158 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152744.3 +1 validated p.V264M 0.997 150 0% 150 31.3% 4 25% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin RBAK 57786 genome.wustl.edu 37 7 5104931 5104931 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021163.3 +1 reviewed p.R615Q 0.994 197 0% 207 21.7% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RBAK 57786 genome.wustl.edu 37 7 5105069 5105069 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021163.3 +1 reviewed p.S661Y 0.988 234 0.4% 281 23.1% 0 - probably_damaging(0.999) tolerated(1) deleterious(0.490) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RBAK 57786 genome.wustl.edu 37 7 5112841 5112841 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000407184 +1 known p.L242I 0.002 108 0% 132 30.3% 0 - unknown(0) - - NULL WIPI2 26100 genome.wustl.edu 37 7 5257638 5257638 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015610.3 +1 validated p.S221L 1.000 142 0% 202 24.8% 24 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like EIF2AK1 27102 genome.wustl.edu 37 7 6068659 6068659 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014413.3 -1 reviewed p.R446I 1.000 108 0% 66 33.3% 18 50% probably_damaging(0.976) deleterious(0.03) deleterious(0.782) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EIF2AK1 27102 genome.wustl.edu 37 7 6077114 6077114 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014413.3 -1 reviewed p.E425* 1.000 206 0% 176 27.8% 36 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ZNF12 7559 genome.wustl.edu 37 7 6732198 6732198 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016265.3 -1 reviewed p.T125 0.000 510 0.2% 490 31.6% 0 - - - - NULL RSPH10B2 728194 genome.wustl.edu 37 7 6826526 6826526 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099697.1 +1 provisional p.F628L 1.000 390 0% 378 10.8% 0 - benign(0.243) tolerated(0.05) neutral(0.370) NULL LOC100131257 100131257 genome.wustl.edu 37 7 7117935 7117935 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001716696.1 -1 model p.E423D 1.000 264 0% 132 54.5% 0 - - - - superfamily_C2H2 and C2HC zinc fingers LOC100131257 100131257 genome.wustl.edu 37 7 7118585 7118585 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001716696.1 -1 model p.E207* 1.000 260 0% 145 26.9% 0 - - - - superfamily_C2H2 and C2HC zinc fingers LOC100131257 100131257 genome.wustl.edu 37 7 7118740 7118740 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001716696.1 -1 model p.K155T 0.111 231 0% 94 36.2% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers COL28A1 340267 genome.wustl.edu 37 7 7415129 7415129 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037763.2 -1 validated e30-1 1.000 96 0% 58 17.2% 0 - - - - - COL28A1 340267 genome.wustl.edu 37 7 7476037 7476037 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037763.2 -1 validated p.R617* 1.000 302 0% 220 32.7% 0 - - - - NULL MIOS 54468 genome.wustl.edu 37 7 7612769 7612769 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019005.3 +1 validated p.F221L 1.000 155 0.6% 181 23.2% 5 40% benign(0.009) tolerated(1) neutral(0.001) HMMSmart_SM00320,superfamily_WD40 repeat-like MIOS 54468 genome.wustl.edu 37 7 7625357 7625357 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019005.3 +1 validated p.R580Q 1.000 250 0% 185 26.5% 7 42.8% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL LOC340268 340268 genome.wustl.edu 37 7 9766392 9766392 + RNA SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_041608.1 +1 model NULL 1.000 70 0% 52 34.6% 0 - - - - - PHF14 9678 genome.wustl.edu 37 7 11091322 11091322 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000303905 +1 known p.R799Q 1.000 109 0% 89 22.5% 32 21.8% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL THSD7A 221981 genome.wustl.edu 37 7 11452292 11452292 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015204.2 -1 validated p.N1225D 1.000 86 0% 54 24.1% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ETV1 2115 genome.wustl.edu 37 7 13949261 13949261 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004956.4 -1 validated p.F312 0.755 238 0.4% 184 16.8% 0 - - - - HMMPfam_ETS_PEA3_N ETV1 2115 genome.wustl.edu 37 7 13971195 13971195 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004956.4 -1 validated p.A245V 0.999 63 1.6% 59 20.3% 2 50% benign(0) tolerated(0.33) neutral(0.024) HMMPfam_ETS_PEA3_N AGMO 392636 genome.wustl.edu 37 7 15599877 15599877 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004320.1 -1 provisional p.S49Y 1.000 191 0% 188 21.8% 0 - benign(0.055) tolerated(1) neutral(0.004) NULL ANKMY2 57037 genome.wustl.edu 37 7 16649376 16649376 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020319.2 -1 validated p.R254Q 1.000 157 0% 121 27.3% 2 50% probably_damaging(0.999) tolerated(0.21) deleterious(0.534) NULL ANKMY2 57037 genome.wustl.edu 37 7 16664667 16664667 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020319.2 -1 validated p.A104V 1.000 263 0% 289 29.1% 0 - probably_damaging(0.999) tolerated(0.31) deleterious(0.517) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat BZW2 28969 genome.wustl.edu 37 7 16736588 16736588 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014038.2 +1 validated p.T291A 1.000 223 0% 157 28.7% 49 34.6% benign(0.023) tolerated(0.39) neutral(0.017) superfamily_ARM repeat AHR 196 genome.wustl.edu 37 7 17378911 17378911 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001621.4 +1 validated p.E488K 0.000 247 0% 174 34.5% 2 50% benign(0.025) tolerated(0.14) neutral(0.251) NULL AHR 196 genome.wustl.edu 37 7 17379548 17379548 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001621.4 +1 validated p.F700C 0.961 228 0% 160 23.1% 8 37.5% possibly_damaging(0.823) deleterious(0) deleterious(0.756) NULL SNX13 23161 genome.wustl.edu 37 7 17836501 17836501 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015132.4 -1 reviewed p.R859* 0.993 277 0% 301 23.6% 8 0% - - - HMMPfam_Nexin_C SNX13 23161 genome.wustl.edu 37 7 17838724 17838724 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015132.4 -1 reviewed p.F784 0.916 138 0% 156 29.5% 3 66.6% - - - NULL PRPS1L1 221823 genome.wustl.edu 37 7 18066654 18066654 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175886.2 -1 reviewed p.G251V 1.000 356 0.3% 276 24.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PRTase-like MACC1 346389 genome.wustl.edu 37 7 20198114 20198114 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182762.3 -1 validated p.F624L 0.001 381 0% 286 27.6% 1 0% benign(0) tolerated(0.65) neutral(0.003) NULL ABCB5 340273 genome.wustl.edu 37 7 20682911 20682911 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000404938 +1 known p.R140Q 0.993 134 0% 75 29.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB5 340273 genome.wustl.edu 37 7 20782535 20782535 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178559.5 +1 validated p.V575 0.016 121 0% 201 25.4% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB5 340273 genome.wustl.edu 37 7 20782555 20782555 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178559.5 +1 validated p.R582H 0.998 127 0% 219 14.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH11 8701 genome.wustl.edu 37 7 21630554 21630554 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003777.3 +1 reviewed p.E730* 1.000 36 0% 26 34.6% 0 - - - - HMMPfam_DHC_N1 DNAH11 8701 genome.wustl.edu 37 7 21757454 21757454 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003777.3 +1 reviewed p.L2356I 1.000 144 0% 89 15.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DNAH11 8701 genome.wustl.edu 37 7 21779217 21779217 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003777.3 +1 reviewed p.E2621* 1.000 161 0% 260 31.2% 0 - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH11 8701 genome.wustl.edu 37 7 21908581 21908581 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003777.3 +1 reviewed p.S3987Y 0.977 105 0% 94 25.5% 0 - probably_damaging(0.956) tolerated(0.89) neutral(0.400) HMMPfam_Dynein_heavy RAPGEF5 9771 genome.wustl.edu 37 7 22186551 22186551 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012294.3 -1 validated p.M504I 1.000 189 0% 147 28.6% 0 - benign(0.055) deleterious(0.02) neutral(0.387) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF FAM126A 84668 genome.wustl.edu 37 7 23015832 23015832 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000440481 -1 known p.Q260* 1.000 222 0% 154 26.6% 0 - possibly_damaging(0.948) tolerated(0.17) neutral(0.450) HMMPfam_Hyccin NUPL2 11097 genome.wustl.edu 37 7 23226687 23226687 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007342.2 +1 validated p.D123Y 1.000 118 0% 133 18.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRA2A 29896 genome.wustl.edu 37 7 23547114 23547114 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013293.3 -1 reviewed p.R189I 1.000 196 0% 222 22.1% 45 20% benign(0.256) deleterious(0) deleterious(0.471) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD STK31 56164 genome.wustl.edu 37 7 23775232 23775232 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031414.3 +1 reviewed p.T187A 1.000 328 0% 296 13.9% 0 - possibly_damaging(0.744) deleterious(0.03) deleterious(0.637) NULL MPP6 51678 genome.wustl.edu 37 7 24689307 24689307 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016447.2 +1 provisional p.S116Y 0.991 246 0% 203 24.6% 0 - benign(0.005) tolerated(0.07) neutral(0.319) superfamily_PDZ domain-like MPP6 51678 genome.wustl.edu 37 7 24718897 24718897 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016447.2 +1 provisional p.S421Y 1.000 499 0% 453 25.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_kin,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases OSBPL3 26031 genome.wustl.edu 37 7 24849501 24849501 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015550.2 -1 reviewed p.H748N 1.000 156 0% 138 37.7% 14 35.7% benign(0.348) deleterious(0) deleterious(0.554) HMMPfam_Oxysterol_BP NPVF 64111 genome.wustl.edu 37 7 25266386 25266386 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022150.3 -1 validated p.R133I 1.000 533 0% 453 26.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SKAP2 8935 genome.wustl.edu 37 7 26724404 26724404 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003930.3 -1 reviewed p.S313Y 0.999 165 0% 153 24.2% 0 - possibly_damaging(0.843) deleterious(0.01) deleterious(0.729) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain HOXA2 3199 genome.wustl.edu 37 7 27141085 27141085 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006735.3 -1 reviewed e2-1 1.000 42 0% 56 39.3% 2 100% - - - - HOXA13 3209 genome.wustl.edu 37 7 27237955 27237955 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000522.4 -1 reviewed p.T343 1.000 146 0% 128 29.7% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like HIBADH 11112 genome.wustl.edu 37 7 27582704 27582704 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152740.2 -1 validated p.R167Q 0.998 324 0% 241 32.8% 34 70.5% benign(0.014) tolerated(0.75) neutral(0.002) HMMPfam_NAD_binding_2,superfamily_NAD(P)-binding Rossmann-fold domains TAX1BP1 8887 genome.wustl.edu 37 7 27797748 27797748 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006024.5 +1 validated p.F87L 1.000 132 0% 124 23.4% 23 56.5% possibly_damaging(0.924) deleterious(0) deleterious(0.818) HMMPfam_CALCOCO1 LOC402644 402644 genome.wustl.edu 37 7 28319076 28319076 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001126493.1 -1 predicted p.E81D 1.000 275 0% 242 14% 0 - - - - HMMPfam_Pro_isomerase,superfamily_CSA_PPIase CPVL 54504 genome.wustl.edu 37 7 29111401 29111401 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019029.2 -1 reviewed p.F284L 0.000 232 0% 260 29.2% 7 14.2% benign(0) tolerated(0.32) neutral(0.024) HMMPfam_Peptidase_S10,superfamily_alpha/beta-Hydrolases PLEKHA8 84725 genome.wustl.edu 37 7 30118249 30118249 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000436767 +1 known p.A470V 0.997 132 0% 133 34.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_GLTP,superfamily_Glycolipid transfer protein GLTP GARS 2617 genome.wustl.edu 37 7 30671863 30671863 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002047.2 +1 reviewed p.S635L 1.000 181 0% 186 29.6% 132 38.6% possibly_damaging(0.874) deleterious(0) deleterious(0.784) HMMPfam_HGTP_anticodon,superfamily_Anticodon-binding domain of Class II aaRS CRHR2 1395 genome.wustl.edu 37 7 30706880 30706880 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001883.3 -1 validated p.I93 1.000 88 0% 105 23.8% 0 - - - - HMMPfam_HRM,HMMSmart_SM00008,superfamily_Hormone receptor domain (HRM Pfam 02793),superfamily_Family A G protein-coupled receptor-like FAM188B 84182 genome.wustl.edu 37 7 30915201 30915201 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032222.2 +1 validated p.L634R 0.310 229 0% 171 24.6% 16 37.5% benign(0.156) tolerated(0.4) neutral(0.030) NULL GHRHR 2692 genome.wustl.edu 37 7 31018748 31018748 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000823.3 +1 reviewed p.I387 0.226 35 0% 52 9.6% 0 - - - - superfamily_SSF81321 ADCYAP1R1 117 genome.wustl.edu 37 7 31121360 31121360 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001118.3 +1 reviewed p.D107N 0.977 127 0% 199 24.1% 0 - benign(0) tolerated(0.13) neutral(0.253) HMMPfam_HRM,HMMSmart_SM00008,superfamily_Hormone receptor domain (HRM Pfam 02793),superfamily_Family A G protein-coupled receptor-like NEUROD6 63974 genome.wustl.edu 37 7 31377934 31377934 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022728.2 -1 provisional p.D317N 1.000 203 0% 170 20% 0 - possibly_damaging(0.798) deleterious(0) deleterious(0.745) NULL NEUROD6 63974 genome.wustl.edu 37 7 31378321 31378321 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022728.2 -1 provisional p.F188V 1.000 183 0.5% 239 36.8% 0 - possibly_damaging(0.454) tolerated(0.08) neutral(0.449) NULL CCDC129 223075 genome.wustl.edu 37 7 31592650 31592650 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_194300.2 +1 validated p.Q4H 0.081 82 0% 56 23.2% 0 - possibly_damaging(0.888) deleterious(0.01) deleterious(0.753) NULL PDE1C 5137 genome.wustl.edu 37 7 31855561 31855561 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005020.1 -1 provisional p.S597* 0.779 300 0% 224 31.7% 0 - - - - NULL PDE1C 5137 genome.wustl.edu 37 7 31864484 31864484 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005020.1 -1 provisional p.S468L 1.000 362 0% 399 25.1% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_SSF109604 PDE1C 5137 genome.wustl.edu 37 7 31877484 31877484 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005020.1 -1 provisional p.A361V 1.000 399 0% 287 26.8% 0 - possibly_damaging(0.652) tolerated(0.42) neutral(0.243) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 PDE1C 5137 genome.wustl.edu 37 7 31890332 31890332 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005020.1 -1 provisional p.I258 1.000 215 0% 215 28.4% 0 - - - - HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 PDE1C 5137 genome.wustl.edu 37 7 32109974 32109974 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005020.1 -1 provisional p.F11C 1.000 110 0% 75 25.3% 0 - possibly_damaging(0.835) deleterious(0.01) deleterious(0.724) NULL NT5C3 51251 genome.wustl.edu 37 7 33055445 33055445 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001002010.1 -1 reviewed p.V249A 1.000 125 0% 125 28.8% 16 31.2% benign(0.252) tolerated(0.08) neutral(0.326) HMMPfam_UMPH-1,superfamily_HAD-like RP9 6100 genome.wustl.edu 37 7 33136124 33136124 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203288.1 -1 reviewed p.R150* 1.000 182 0% 195 23.1% 20 25% - - - NULL BBS9 27241 genome.wustl.edu 37 7 33313469 33313469 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198428.2 +1 reviewed p.G306E 1.000 129 0% 128 25.8% 0 - possibly_damaging(0.716) tolerated(0.07) deleterious(0.578) NULL BBS9 27241 genome.wustl.edu 37 7 33392474 33392474 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198428.2 +1 reviewed p.R514Q 1.000 163 0% 76 31.6% 2 0% benign(0.025) tolerated(0.42) neutral(0.015) NULL BBS9 27241 genome.wustl.edu 37 7 33427631 33427631 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198428.2 +1 reviewed p.E664* 1.000 777 0% 628 29.3% 3 0% - - - NULL BMPER 168667 genome.wustl.edu 37 7 34091518 34091518 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133468.3 +1 validated p.R241Q 1.000 199 0% 146 32.2% 0 - benign(0.055) tolerated(0.15) neutral(0.244) HMMPfam_VWC,HMMSmart_VWC LOC100294084 100294084 genome.wustl.edu 37 7 35942715 35942715 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002344301.1 -1 model e1+2 1.000 35 0% 32 28.1% 25 40% benign(0.264) tolerated(0.11) neutral(0.299) - KIAA0895 23366 genome.wustl.edu 37 7 36373756 36373756 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001100425.1 -1 validated p.R339* 1.000 189 0% 212 26.4% 3 0% - - - NULL AOAH 313 genome.wustl.edu 37 7 36552722 36552722 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000431169 -1 known p.F661L 0.003 89 0% 76 31.6% 12 0% unknown(0) - - NULL AOAH 313 genome.wustl.edu 37 7 36634028 36634028 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001637.3 -1 reviewed p.F285L 0.867 144 0% 145 35.2% 3 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type AOAH 313 genome.wustl.edu 37 7 36657910 36657910 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001637.3 -1 reviewed p.F248L 1.000 70 0% 54 11.1% 1 0% benign(0.195) tolerated(0.53) neutral(0.026) NULL TXNDC3 51314 genome.wustl.edu 37 7 37916545 37916545 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016616.4 +1 reviewed p.M310I 0.004 171 0% 119 24.4% 0 - benign(0) tolerated(0.47) neutral(0.011) NULL SFRP4 6424 genome.wustl.edu 37 7 37951817 37951817 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003014.3 -1 reviewed p.R232Q 0.983 133 0% 105 21.9% 41 0% benign(0.172) deleterious(0.01) neutral(0.421) superfamily_TIMP_like,HMMPfam_NTR,HMMSmart_C345C SFRP4 6424 genome.wustl.edu 37 7 37953987 37953987 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003014.3 -1 reviewed p.R172C 1.000 158 0% 120 32.5% 35 0% probably_damaging(0.986) tolerated(0.07) deleterious(0.754) superfamily_TIMP_like TRGV2 6974 genome.wustl.edu 37 7 38402741 38402741 + Silent SNP C C T rs79993290 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000426402 -1 known p.T26 0.000 450 0% 298 23.2% 0 - - - - HMMPfam_V-set,superfamily_SSF48726 AMPH 273 genome.wustl.edu 37 7 38433678 38433678 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001635.2 -1 reviewed p.I512T 0.000 282 0% 229 24.9% 0 - benign(0) tolerated(0.41) neutral(0.015) NULL AMPH 273 genome.wustl.edu 37 7 38574564 38574564 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001635.2 -1 reviewed p.F39 1.000 103 0% 74 25.7% 0 - - - - HMMPfam_BAR,HMMSmart_SM00721 FAM183B 340286 genome.wustl.edu 37 7 38725459 38725459 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000409072 -1 known p.T49 0.117 150 0% 136 23.5% 0 - - - - NULL POU6F2 11281 genome.wustl.edu 37 7 39504266 39504266 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007252.3 +1 reviewed p.S686Y 1.000 60 0% 45 28.9% 0 - possibly_damaging(0.928) deleterious(0.01) deleterious(0.781) NULL RALA 5898 genome.wustl.edu 37 7 39745749 39745749 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005402.2 +1 reviewed p.R176* 1.000 210 0.5% 109 34.9% 20 35% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CDK13 8621 genome.wustl.edu 37 7 40027248 40027248 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003718.4 +1 reviewed p.R421K 1.000 209 0% 179 29.1% 4 0% unknown(0) tolerated(0.08) - NULL C7orf10 79783 genome.wustl.edu 37 7 40789051 40789051 + Missense_Mutation SNP G G A rs147837552 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024728.1 +1 provisional p.V366I 0.000 187 0% 179 33% 0 - benign(0.001) tolerated(0.2) neutral(0.049) superfamily_CoA-Trfase_fam_III GLI3 2737 genome.wustl.edu 37 7 42003980 42003980 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000168.5 -1 reviewed p.S1564Y 1.000 47 0% 42 21.4% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HECW1 23072 genome.wustl.edu 37 7 43581573 43581573 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000429529 +1 known p.L132R 0.005 125 0% 139 16.5% 1 0% - - - HMMPfam_HECT,superfamily_Hect E3 ligase catalytic domain HECW1 23072 genome.wustl.edu 37 7 43594343 43594343 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015052.3 +1 validated p.R1555W 0.984 27 0% 34 23.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT POLD2 5425 genome.wustl.edu 37 7 44155847 44155847 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127218.1 -1 validated p.P296T 1.000 12 0% 26 23.1% 304 39.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_E_B NPC1L1 29881 genome.wustl.edu 37 7 44556408 44556408 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013389.2 -1 reviewed p.G1165D 1.000 29 0% 31 41.9% 5 0% possibly_damaging(0.539) deleterious(0) deleterious(0.627) HMMPfam_Patched,superfamily_SSF82866 ADCY1 107 genome.wustl.edu 37 7 45724641 45724641 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021116.2 +1 reviewed p.I683L 1.000 143 0% 109 19.3% 1 0% benign(0.01) tolerated(0.35) neutral(0.021) NULL TNS3 64759 genome.wustl.edu 37 7 47341790 47341790 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022748.10 -1 validated p.E1180* 1.000 88 0% 56 23.2% 3 0% - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain TNS3 64759 genome.wustl.edu 37 7 47454762 47454762 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022748.10 -1 validated p.K172N 0.998 31 0% 22 22.7% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PKD1L1 168507 genome.wustl.edu 37 7 47882660 47882660 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138295.2 -1 reviewed p.A1782V 0.000 63 0% 39 15.4% 0 - benign(0.039) tolerated(0.44) neutral(0.015) NULL PKD1L1 168507 genome.wustl.edu 37 7 47945502 47945502 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138295.2 -1 reviewed p.S487Y 0.002 109 0% 92 28.3% 0 - probably_damaging(0.962) deleterious(0.01) deleterious(0.810) NULL HUS1 3364 genome.wustl.edu 37 7 48008853 48008853 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004507.2 -1 reviewed p.V201 0.582 83 0% 90 28.9% 3 33.3% - - - HMMPfam_Hus1 SUN3 256979 genome.wustl.edu 37 7 48046884 48046884 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001030019.1 -1 validated p.L124I 0.988 93 0% 94 17% 0 - benign(0.409) tolerated(0.13) neutral(0.385) NULL C7orf57 136288 genome.wustl.edu 37 7 48081045 48081045 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001100159.1 +1 validated p.G57V 0.004 77 0% 63 38.1% 0 - benign(0.024) tolerated(0.19) neutral(0.051) NULL ABCA13 154664 genome.wustl.edu 37 7 48237849 48237849 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152701.3 +1 reviewed p.R60Q 0.827 111 0% 64 25% 0 - probably_damaging(0.997) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48269441 48269441 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152701.3 +1 reviewed p.D218N 0.957 623 0% 468 31.8% 0 - probably_damaging(0.972) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48288926 48288926 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152701.3 +1 reviewed p.E661D 0.000 372 0% 267 14.6% 0 - benign(0) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48314022 48314022 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152701.3 +1 reviewed p.E1587* 0.998 485 0% 277 28.9% 0 - - - - NULL ABCA13 154664 genome.wustl.edu 37 7 48314899 48314899 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152701.3 +1 reviewed p.R1879Q 0.000 238 0% 106 27.4% 0 - benign(0.001) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48317704 48317704 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152701.3 +1 reviewed p.D2305Y 0.864 18 0% 10 50% 0 - probably_damaging(1) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48567930 48567930 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152701.3 +1 reviewed p.R4781S 0.990 32 0% 30 16.7% 0 - probably_damaging(0.999) - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases FIGNL1 63979 genome.wustl.edu 37 7 50513011 50513011 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042762.1 -1 validated p.D659Y 1.000 82 0% 73 31.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Vps4_C,superfamily_P-loop containing nucleoside triphosphate hydrolases FIGNL1 63979 genome.wustl.edu 37 7 50513424 50513424 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042762.1 -1 validated p.K521T 1.000 208 0% 234 32.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases DDC 1644 genome.wustl.edu 37 7 50537844 50537844 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000790.3 -1 reviewed p.R356I 0.726 114 0% 105 30.5% 0 - possibly_damaging(0.78) deleterious(0) deleterious(0.736) HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases COBL 23242 genome.wustl.edu 37 7 51096911 51096911 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015198.3 -1 validated p.A628T 0.001 139 0% 101 22.8% 10 0% benign(0.026) tolerated(0.26) neutral(0.035) NULL LOC441228 441228 genome.wustl.edu 37 7 56359131 56359131 + RNA SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_016387.3 +1 model NULL 0.181 297 0% 179 32.4% 0 - - - - - ZNF479 90827 genome.wustl.edu 37 7 57187836 57187836 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033273.1 -1 provisional p.R429I 1.000 297 0% 343 29.4% 0 - unknown(0) tolerated(0.41) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF716 441234 genome.wustl.edu 37 7 57522844 57522844 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002342727.1 +1 model p.K78Q 0.681 276 0% 385 27% 0 - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) NULL ZNF716 441234 genome.wustl.edu 37 7 57528881 57528881 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002342727.1 +1 model p.E238D 1.000 128 0% 118 24.6% 0 - possibly_damaging(0.709) tolerated(0.06) deleterious(0.579) superfamily_C2H2 and C2HC zinc fingers ZNF716 441234 genome.wustl.edu 37 7 57529027 57529027 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000420713 +1 known p.K287T 0.395 151 0% 188 23.4% 0 - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) superfamily_C2H2 and C2HC zinc fingers ZNF736 728927 genome.wustl.edu 37 7 63809071 63809071 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000423484 +1 known p.R277K 0.844 107 0% 137 19% 0 - possibly_damaging(0.727) tolerated(0.42) neutral(0.279) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF736 728927 genome.wustl.edu 37 7 63809156 63809156 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000423484 +1 known p.I305 0.691 88 0% 122 23.8% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF107 51427 genome.wustl.edu 37 7 64167902 64167902 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013746.1 +1 validated p.S407Y 1.000 193 0% 219 26% 0 - possibly_damaging(0.845) deleterious(0) deleterious(0.768) superfamily_SSF57667 ZNF107 51427 genome.wustl.edu 37 7 64168245 64168245 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013746.1 +1 validated p.E521D 1.000 184 0% 202 22.3% 0 - unknown(0) deleterious(0.03) - superfamily_SSF57667 ZNF107 51427 genome.wustl.edu 37 7 64168565 64168565 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013746.1 +1 validated p.R628I 0.962 194 0% 203 32% 1 0% benign(0.023) tolerated(0.19) neutral(0.051) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF273 10793 genome.wustl.edu 37 7 64388164 64388164 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021148.2 +1 reviewed p.A153V 0.000 227 0% 273 34.1% 0 - benign(0) tolerated(1) - NULL ZNF273 10793 genome.wustl.edu 37 7 64388276 64388276 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021148.2 +1 reviewed p.F190L 0.000 259 0% 242 31% 0 - benign(0.012) tolerated(0.6) neutral(0.005) superfamily_C2H2 and C2HC zinc fingers ZNF92 168374 genome.wustl.edu 37 7 64863892 64863892 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152626.2 +1 validated p.E289* 0.909 273 0% 289 17.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SNORA22 677807 genome.wustl.edu 37 7 65220629 65220629 + RNA SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NR_002961.1 +1 provisional NULL 1.000 155 0% 164 29.3% 0 - - - - - KCTD7 154881 genome.wustl.edu 37 7 66104044 66104044 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153033.3 +1 validated p.F232C 1.000 82 0% 113 22.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RABGEF1 27342 genome.wustl.edu 37 7 66270131 66270131 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014504.2 +1 validated p.I275 0.997 224 0% 178 18% 4 50% - - - HMMPfam_VPS9,HMMSmart_VPS9,superfamily_SSF109993 TYW1 55253 genome.wustl.edu 37 7 66648215 66648215 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018264.2 +1 validated p.E601K 1.000 36 0% 29 31% 14 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Wyosine_form,superfamily_Radical SAM enzymes LOC442572 442572 genome.wustl.edu 37 7 66751161 66751161 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_499314.5 +1 model p.N296D 0.002 356 0% 312 26.6% 0 - - - - NULL AUTS2 26053 genome.wustl.edu 37 7 69364421 69364421 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015570.2 +1 validated p.E153D 0.996 366 0% 318 33.3% 1 100% benign(0.105) tolerated(0.05) neutral(0.353) NULL WBSCR17 64409 genome.wustl.edu 37 7 70886054 70886054 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022479.1 +1 reviewed p.D309Y 1.000 98 0% 64 31.2% 0 - possibly_damaging(0.658) deleterious(0.02) deleterious(0.616) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases BAZ1B 9031 genome.wustl.edu 37 7 72877334 72877334 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032408.3 -1 validated p.R1056H 1.000 580 0% 545 27.7% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL WBSCR22 114049 genome.wustl.edu 37 7 73098222 73098222 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000423166 +1 known p.R49I 0.000 21 0% 26 34.6% 1 100% benign(0.004) deleterious(0) neutral(0.445) NULL STX1A 6804 genome.wustl.edu 37 7 73118578 73118578 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004603.3 -1 reviewed p.T122 0.962 19 0% 19 21.1% 5 40% - - - HMMPfam_Syntaxin,HMMSmart_SM00503,superfamily_t-snare proteins ELN 2006 genome.wustl.edu 37 7 73467563 73467563 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000501.2 +1 reviewed p.G340 0.049 21 0% 26 23.1% 3 0% - - - NULL GTF2I 2969 genome.wustl.edu 37 7 74159108 74159108 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032999.2 +1 reviewed p.G588* 1.000 119 0.8% 125 26.4% 15 6.6% - - - HMMPfam_GTF2I GTF2IRD2 84163 genome.wustl.edu 37 7 74212066 74212066 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173537.2 -1 validated p.I595 0.873 123 0.8% 93 9.7% 1 0% - - - NULL MDH2 4191 genome.wustl.edu 37 7 75694217 75694217 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005918.2 +1 reviewed p.F277 0.620 59 0% 46 26.1% 478 38.9% - - - HMMPfam_Ldh_1_C,superfamily_Lactate_DH/Glyco_hydro_4_C SRCRB4D 136853 genome.wustl.edu 37 7 76019498 76019498 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080744.1 -1 provisional p.L536I 1.000 48 0% 56 30.4% 2 0% possibly_damaging(0.912) tolerated(0.35) neutral(0.384) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like FGL2 10875 genome.wustl.edu 37 7 76826112 76826112 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006682.2 -1 reviewed p.W268* 1.000 277 0% 178 25.3% 25 0% - - - HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like FGL2 10875 genome.wustl.edu 37 7 76826188 76826188 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006682.2 -1 reviewed p.D243G 1.000 258 0% 158 36.1% 12 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like FGL2 10875 genome.wustl.edu 37 7 76826251 76826251 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006682.2 -1 reviewed p.R222I 1.000 238 0% 140 23.6% 15 0% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like CCDC146 57639 genome.wustl.edu 37 7 76909961 76909961 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020879.2 +1 validated p.R637Q 0.998 109 0% 78 29.5% 4 50% probably_damaging(0.999) tolerated(0.14) deleterious(0.740) NULL PTPN12 5782 genome.wustl.edu 37 7 77200461 77200461 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002835.3 +1 reviewed p.E56* 1.000 146 0% 113 28.3% 6 50% - - - HMMSmart_PTPc,superfamily_SSF52799 RSBN1L 222194 genome.wustl.edu 37 7 77408468 77408468 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198467.2 +1 validated p.D842N 1.000 100 0% 82 34.1% 0 - possibly_damaging(0.798) deleterious(0.01) deleterious(0.706) NULL MAGI2 9863 genome.wustl.edu 37 7 77649192 77649192 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012301.3 -1 reviewed p.P1270T 1.000 18 0% 23 26.1% 0 - benign(0) tolerated(0.09) neutral(0.296) NULL MAGI2 9863 genome.wustl.edu 37 7 77973155 77973155 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012301.3 -1 reviewed p.L450M 1.000 168 0% 135 32.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MAGI2 9863 genome.wustl.edu 37 7 77998505 77998505 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012301.3 -1 reviewed p.I357 1.000 156 0% 124 20.2% 0 - - - - HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain MAGI2 9863 genome.wustl.edu 37 7 78256493 78256493 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012301.3 -1 reviewed p.E161* 1.000 218 0% 139 10.8% 0 - - - - HMMPfam_Guanylate_kin,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases SEMA3C 10512 genome.wustl.edu 37 7 80378305 80378305 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006379.2 -1 validated p.K584R 1.000 186 0% 116 18.1% 3 0% benign(0) tolerated(0.1) neutral(0.286) HMMSmart_IG,superfamily_SSF48726 CACNA2D1 781 genome.wustl.edu 37 7 81603842 81603842 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000722.2 -1 reviewed p.S661L 0.581 57 0% 44 40.9% 0 - possibly_damaging(0.927) deleterious(0.04) deleterious(0.724) NULL PCLO 27445 genome.wustl.edu 37 7 82580231 82580231 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033026.5 -1 validated p.K3225E 1.000 168 0% 145 29.7% 0 - probably_damaging(0.971) - - NULL PCLO 27445 genome.wustl.edu 37 7 82581337 82581337 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033026.5 -1 validated p.R2978* 0.940 379 0% 296 26.4% 0 - - - - NULL PCLO 27445 genome.wustl.edu 37 7 82582944 82582944 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033026.5 -1 validated p.K2442T 0.984 78 0% 79 30.4% 0 - probably_damaging(0.995) - - NULL PCLO 27445 genome.wustl.edu 37 7 82583786 82583786 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033026.5 -1 validated p.S2161 0.997 353 0% 375 27.5% 0 - - - - NULL PCLO 27445 genome.wustl.edu 37 7 82586082 82586082 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033026.5 -1 validated p.S1396Y 0.165 224 0% 200 27% 0 - probably_damaging(0.995) - - NULL PCLO 27445 genome.wustl.edu 37 7 82595617 82595617 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033026.5 -1 validated p.E1163* 0.984 238 0% 176 31.8% 0 - - - - NULL PCLO 27445 genome.wustl.edu 37 7 82785442 82785442 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033026.5 -1 validated p.K172T 1.000 94 0% 73 20.5% 0 - unknown(0) - - NULL GRM3 2913 genome.wustl.edu 37 7 86394478 86394478 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000840.2 +1 reviewed p.R6I 1.000 485 0% 472 14.2% 0 - benign(0.086) deleterious(0) neutral(0.451) NULL GRM3 2913 genome.wustl.edu 37 7 86394817 86394817 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000840.2 +1 reviewed p.K119R 1.000 511 0% 547 30.7% 0 - benign(0.014) tolerated(0.2) neutral(0.050) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I KIAA1324L 222223 genome.wustl.edu 37 7 86544102 86544102 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000423294 -1 known p.H517N 1.000 220 0% 117 25.6% 5 0% - - - superfamily_Growth factor receptor domain KIAA1324L 222223 genome.wustl.edu 37 7 86547849 86547849 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142749.2 -1 validated p.S501Y 1.000 374 0% 273 28.9% 4 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) superfamily_Growth factor receptor domain DMTF1 9988 genome.wustl.edu 37 7 86803944 86803944 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142327.1 +1 reviewed p.E160* 1.000 78 0% 81 21% 0 - - - - NULL CROT 54677 genome.wustl.edu 37 7 87011811 87011811 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001143935.1 +1 reviewed p.T446K 0.995 281 0% 270 25.6% 0 - probably_damaging(0.995) tolerated(0.05) deleterious(0.803) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases ABCB4 5244 genome.wustl.edu 37 7 87083907 87083907 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018849.2 -1 reviewed p.V96 1.000 57 0% 50 34% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB1 5243 genome.wustl.edu 37 7 87160680 87160680 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000927.3 -1 reviewed p.G872V 1.000 561 0% 523 13.2% 2 0% possibly_damaging(0.824) tolerated(0.09) deleterious(0.609) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB1 5243 genome.wustl.edu 37 7 87170704 87170704 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000927.3 -1 reviewed p.G763V 1.000 289 0.3% 215 26.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB1 5243 genome.wustl.edu 37 7 87174271 87174271 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000927.3 -1 reviewed p.S644 0.000 162 0% 94 34% 0 - - - - NULL ABCB1 5243 genome.wustl.edu 37 7 87180119 87180119 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000927.3 -1 reviewed p.V345 0.999 326 0% 235 18.7% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB1 5243 genome.wustl.edu 37 7 87190589 87190589 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000927.3 -1 reviewed p.E273* 1.000 191 0% 137 21.9% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ADAM22 53616 genome.wustl.edu 37 7 87795236 87795236 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021723.2 +1 reviewed p.K722N 0.793 133 0% 99 36.4% 0 - possibly_damaging(0.675) tolerated(0.26) neutral(0.273) NULL ZNF804B 219578 genome.wustl.edu 37 7 88964040 88964040 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181646.2 +1 provisional p.L582I 1.000 285 0% 210 30% 0 - benign(0.026) tolerated(0.35) neutral(0.022) NULL ZNF804B 219578 genome.wustl.edu 37 7 88964209 88964209 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181646.2 +1 provisional p.K638T 0.038 259 0% 215 28.8% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL ZNF804B 219578 genome.wustl.edu 37 7 88965390 88965390 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181646.2 +1 provisional p.H1032Y 0.992 331 0% 278 26.3% 0 - benign(0.378) tolerated(0.1) neutral(0.407) NULL ZNF804B 219578 genome.wustl.edu 37 7 88965777 88965777 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181646.2 +1 provisional p.L1161I 0.999 241 0% 227 27.8% 0 - probably_damaging(0.959) deleterious(0.02) deleterious(0.786) NULL C7orf63 79846 genome.wustl.edu 37 7 89929239 89929239 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039706.2 +1 validated p.N639T 1.000 136 0% 144 27.8% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL C7orf63 79846 genome.wustl.edu 37 7 89929346 89929346 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039706.2 +1 validated p.K675E 1.000 139 0% 161 30.4% 0 - probably_damaging(0.954) tolerated(0.22) neutral(0.440) NULL AKAP9 10142 genome.wustl.edu 37 7 91603225 91603225 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005751.4 +1 reviewed p.I83 0.001 181 0% 219 22.4% 0 - - - - NULL AKAP9 10142 genome.wustl.edu 37 7 91624951 91624951 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005751.4 +1 reviewed p.H256R 0.996 103 0% 114 21.1% 0 - possibly_damaging(0.925) tolerated(0.2) neutral(0.422) NULL AKAP9 10142 genome.wustl.edu 37 7 91631176 91631176 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005751.4 +1 reviewed p.R649* 0.991 197 0% 212 23.6% 0 - - - - NULL AKAP9 10142 genome.wustl.edu 37 7 91667961 91667961 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005751.4 +1 reviewed p.E1523K 1.000 234 0% 167 22.2% 0 - probably_damaging(0.987) tolerated(0.17) deleterious(0.495) NULL AKAP9 10142 genome.wustl.edu 37 7 91687674 91687674 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000265737 +1 known p.N64 0.999 76 0% 64 25% 0 - - - - NULL CYP51A1 1595 genome.wustl.edu 37 7 91755742 91755742 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000786.3 -1 reviewed e5-1 1.000 59 0% 84 10.7% 0 - - - - - KRIT1 889 genome.wustl.edu 37 7 91852280 91852280 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004912.3 -1 reviewed p.R423* 1.000 79 0% 61 26.2% 2 0% - - - HMMSmart_SM00295 KRIT1 889 genome.wustl.edu 37 7 91855908 91855908 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004912.3 -1 reviewed p.H360N 1.000 172 0% 160 36.2% 3 33.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat SAMD9 54809 genome.wustl.edu 37 7 92731623 92731623 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017654.2 -1 validated p.S1263Y 0.105 408 0% 349 30.7% 0 - probably_damaging(0.981) deleterious(0.02) deleterious(0.808) NULL SAMD9 54809 genome.wustl.edu 37 7 92731758 92731758 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017654.2 -1 validated p.D1218A 0.090 386 0% 345 31.6% 0 - benign(0.304) tolerated(0.43) neutral(0.108) NULL SAMD9 54809 genome.wustl.edu 37 7 92731862 92731862 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017654.2 -1 validated p.P1183 0.479 462 0% 357 23.8% 2 0% - - - NULL SAMD9 54809 genome.wustl.edu 37 7 92732360 92732360 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017654.2 -1 validated p.F1017L 0.997 248 0% 168 33.9% 0 - possibly_damaging(0.792) tolerated(1) neutral(0.297) NULL SAMD9 54809 genome.wustl.edu 37 7 92732492 92732492 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017654.2 -1 validated p.I973 0.000 258 0% 231 29% 0 - - - - NULL SAMD9L 219285 genome.wustl.edu 37 7 92763267 92763267 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152703.2 -1 validated p.K673T 0.019 553 0% 392 29.8% 2 50% benign(0.013) deleterious(0.03) neutral(0.365) NULL CCDC132 55610 genome.wustl.edu 37 7 92883211 92883211 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017667.2 +1 validated p.A88 1.000 110 0% 84 28.6% 0 - - - - HMMPfam_DUF2450 CCDC132 55610 genome.wustl.edu 37 7 92983000 92983000 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017667.2 +1 validated p.R838C 1.000 406 0% 272 27.9% 1 100% probably_damaging(0.999) tolerated(0.18) deleterious(0.546) HMMPfam_DUF2451 CCDC132 55610 genome.wustl.edu 37 7 92983058 92983058 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017667.2 +1 validated p.R857Q 1.000 339 0.6% 231 24.2% 2 0% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_DUF2451 CCDC132 55610 genome.wustl.edu 37 7 92985327 92985327 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017667.2 +1 validated p.E904* 1.000 106 0% 78 29.5% 1 0% - - - HMMPfam_DUF2451 CALCR 799 genome.wustl.edu 37 7 93106921 93106921 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001742.3 -1 reviewed p.V89I 0.038 83 0% 98 16.3% 0 - benign(0.003) tolerated(0.14) neutral(0.249) HMMPfam_HRM,HMMSmart_HormR,PatternScan_G_PROTEIN_RECEP_F2_1,superfamily_SSF111418,superfamily_SSF81321 TFPI2 7980 genome.wustl.edu 37 7 93519623 93519623 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006528.2 -1 provisional p.A33T 0.000 89 0% 62 16.1% 7 57.1% benign(0.005) tolerated(0.63) neutral(0.004) superfamily_Prot_inh_Kunz-m BET1 10282 genome.wustl.edu 37 7 93623697 93623697 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005868.4 -1 reviewed p.D68N 1.000 95 0% 85 32.9% 3 0% possibly_damaging(0.663) tolerated(0.16) neutral(0.294) HMMPfam_SNARE,HMMSmart_SM00397 COL1A2 1278 genome.wustl.edu 37 7 94053652 94053652 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000089.3 +1 reviewed p.P857L 1.000 120 0% 88 27.3% 219 0% unknown(0) tolerated(0.14) - HMMPfam_Collagen COL1A2 1278 genome.wustl.edu 37 7 94057167 94057167 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000089.3 +1 reviewed p.L1166V 0.932 81 0% 62 21% 423 0% possibly_damaging(0.947) deleterious(0) deleterious(0.835) HMMPfam_COLFI,HMMSmart_SM00038 COL1A2 1278 genome.wustl.edu 37 7 94057766 94057766 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000089.3 +1 reviewed p.E1230* 1.000 138 0% 107 25.2% 291 0% - - - HMMPfam_COLFI,HMMSmart_SM00038 PEG10 23089 genome.wustl.edu 37 7 94292875 94292875 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040152.1 +1 reviewed p.E3K 0.053 9 0.000 18 0.389 1 0% benign(0.048) deleterious(0) neutral(0.448) NULL PON1 5444 genome.wustl.edu 37 7 94947668 94947668 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000446.5 -1 reviewed p.E38* 0.823 363 0% 226 23.5% 0 - - - - superfamily_Calcium-dependent phosphotriesterase PDK4 5166 genome.wustl.edu 37 7 95223051 95223051 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002612.3 -1 reviewed p.F102V 1.000 79 0% 83 38.6% 1 0% benign(0.186) deleterious(0.04) neutral(0.366) HMMPfam_BCDHK_Adom3,superfamily_alpha-ketoacid dehydrogenase kinase N-terminal domain DYNC1I1 1780 genome.wustl.edu 37 7 95499225 95499225 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004411.4 +1 validated p.K152N 1.000 161 0% 149 22.1% 0 - possibly_damaging(0.943) tolerated(0.55) neutral(0.395) superfamily_WD40 repeat-like SLC25A13 10165 genome.wustl.edu 37 7 95751055 95751055 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014251.2 -1 reviewed p.R585C 1.000 450 0% 386 31.6% 25 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Mitoch_carrier,HMMPfam_Mito_carr LMTK2 22853 genome.wustl.edu 37 7 97816246 97816246 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014916.3 +1 reviewed p.E312* 1.000 279 0.4% 250 31.2% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) BAIAP2L1 55971 genome.wustl.edu 37 7 97937198 97937198 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018842.4 -1 reviewed p.E322D 0.749 154 0% 141 31.9% 34 38.2% benign(0.001) tolerated(0.39) neutral(0.016) NULL TMEM130 222865 genome.wustl.edu 37 7 98461022 98461022 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134450.1 -1 validated p.G29 0.340 39 0% 35 31.4% 0 - - - - NULL TRRAP 8295 genome.wustl.edu 37 7 98497370 98497370 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003496.2 +1 validated p.I260M 0.992 101 0% 87 24.1% 0 - unknown(0) tolerated(0.11) - superfamily_ARM repeat TRRAP 8295 genome.wustl.edu 37 7 98546246 98546246 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003496.2 +1 validated p.T1551A 1.000 106 0% 126 30.2% 0 - possibly_damaging(0.511) deleterious(0.04) deleterious(0.520) superfamily_ARM repeat SMURF1 57154 genome.wustl.edu 37 7 98638148 98638148 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020429.1 -1 reviewed p.R494Q 1.000 88 0% 65 26.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain BUD31 8896 genome.wustl.edu 37 7 99015051 99015051 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003910.3 +1 validated e3-1 1.000 51 0% 47 10.6% 1 0% - - - - ZNF394 84124 genome.wustl.edu 37 7 99091180 99091180 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032164.2 -1 provisional p.S553L 0.007 82 0% 128 19.5% 17 23.5% benign(0) deleterious(0) neutral(0.445) NULL ZNF394 84124 genome.wustl.edu 37 7 99091730 99091730 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032164.2 -1 provisional p.R370C 0.001 197 0% 278 25.5% 9 22.2% probably_damaging(0.976) deleterious(0.03) deleterious(0.782) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF655 79027 genome.wustl.edu 37 7 99170510 99170510 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001083956.1 +1 reviewed p.R295I 1.000 108 0% 112 32.1% 0 - possibly_damaging(0.546) deleterious(0.01) deleterious(0.591) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CYP3A4 1576 genome.wustl.edu 37 7 99364813 99364813 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017460.3 -1 reviewed p.N247H 0.000 168 0% 151 27.2% 0 - benign(0.001) tolerated(0.1) neutral(0.286) HMMPfam_p450,superfamily_Cytochrome P450 OR2AE1 81392 genome.wustl.edu 37 7 99474603 99474603 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005276.1 -1 provisional p.F18 0.114 167 0.6% 171 23.4% 0 - - - - superfamily_SSF81321 AP4M1 9179 genome.wustl.edu 37 7 99700369 99700369 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004722.3 +1 reviewed p.N73K 0.229 45 0% 34 14.7% 11 54.5% possibly_damaging(0.864) deleterious(0.01) deleterious(0.740) HMMPfam_Clat_adaptor_s,superfamily_Longin_like STAG3 10734 genome.wustl.edu 37 7 99794861 99794861 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012447.2 +1 validated p.D342N 1.000 996 0.1% 1177 21.2% 1 0% possibly_damaging(0.947) deleterious(0) deleterious(0.835) superfamily_ARM repeat ZCWPW1 55063 genome.wustl.edu 37 7 100013635 100013635 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017984.3 -1 validated p.Q238H 0.983 172 0% 200 26% 3 100% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL ZCWPW1 55063 genome.wustl.edu 37 7 100017463 100017463 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017984.3 -1 validated p.Q24H 0.999 81 0% 102 37.3% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL FBXO24 26261 genome.wustl.edu 37 7 100190474 100190474 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033506.2 +1 reviewed p.P209 0.993 45 0% 51 31.4% 1 0% - - - NULL ZAN 7455 genome.wustl.edu 37 7 100350208 100350208 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003386.1 +1 reviewed p.E827G 0.009 87 0% 122 28.7% 0 - unknown(0) - - NULL SRRT 51593 genome.wustl.edu 37 7 100479343 100479343 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015908.5 +1 validated p.G105 0.997 52 0% 85 28.2% 32 46.8% - - - NULL SRRT 51593 genome.wustl.edu 37 7 100482401 100482401 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015908.5 +1 validated p.S328L 0.996 109 0% 77 16.9% 46 19.5% benign(0.119) tolerated(0.22) neutral(0.052) NULL MUC3A 4584 genome.wustl.edu 37 7 100550180 100550180 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001725354.2 +1 model p.T254N 0.007 400 0% 491 12.6% 0 - possibly_damaging(0.45) deleterious(0) deleterious(0.592) NULL MUC3A 4584 genome.wustl.edu 37 7 100551038 100551038 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001725354.2 +1 model p.S540Y 0.021 218 0% 419 12.6% 0 - - - - NULL MUC17 140453 genome.wustl.edu 37 7 100685505 100685505 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040105.1 +1 provisional p.R3603I 0.000 160 0% 163 33.7% 0 - possibly_damaging(0.907) - - NULL MUC17 140453 genome.wustl.edu 37 7 100695124 100695124 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040105.1 +1 provisional p.F4328 0.170 123 0% 205 25.9% 0 - - - - NULL CLDN15 24146 genome.wustl.edu 37 7 100876140 100876140 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014343.2 -1 reviewed p.F146L 1.000 18 0% 32 28.1% 9 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PMP22_Claudin MYL10 93408 genome.wustl.edu 37 7 101259514 101259514 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138403.4 -1 validated p.F173 0.158 24 0% 32 40.6% 0 - - - - HMMSmart_EFh,superfamily_SSF47473 FBXL13 222235 genome.wustl.edu 37 7 102517962 102517962 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145032.3 -1 validated p.I529 0.007 189 0% 191 33% 0 - - - - HMMSmart_SM00367,superfamily_RNI-like LRRC17 10234 genome.wustl.edu 37 7 102584980 102584980 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001031692.2 +1 validated p.D418Y 1.000 241 0% 147 16.3% 1 0% possibly_damaging(0.837) deleterious(0) deleterious(0.764) NULL PSMC2 5701 genome.wustl.edu 37 7 103007953 103007953 + Missense_Mutation SNP G G C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002803.2 +1 reviewed p.G313A 1.000 220 0% 274 10.6% 133 15.7% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases SLC26A5 375611 genome.wustl.edu 37 7 103018906 103018906 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198999.2 -1 reviewed p.T591N 0.009 274 0% 255 32.2% 0 - benign(0.02) tolerated(0.53) neutral(0.009) HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa RELN 5649 genome.wustl.edu 37 7 103151406 103151406 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005045.3 -1 reviewed p.F2722L 1.000 204 0% 145 17.2% 0 - possibly_damaging(0.943) deleterious(0.02) deleterious(0.770) superfamily_Sialidase RELN 5649 genome.wustl.edu 37 7 103159849 103159849 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005045.3 -1 reviewed p.L2595I 1.000 156 0% 117 29.9% 0 - possibly_damaging(0.95) deleterious(0.05) deleterious(0.739) superfamily_Sialidase RELN 5649 genome.wustl.edu 37 7 103183303 103183303 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005045.3 -1 reviewed p.F2182L 1.000 183 0% 160 27.5% 0 - probably_damaging(0.991) deleterious(0.04) deleterious(0.793) NULL RELN 5649 genome.wustl.edu 37 7 103191688 103191688 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005045.3 -1 reviewed p.F2043C 1.000 34 0% 47 40.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RELN 5649 genome.wustl.edu 37 7 103194177 103194177 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005045.3 -1 reviewed p.E1967* 1.000 117 0% 89 22.5% 0 - - - - NULL RELN 5649 genome.wustl.edu 37 7 103206669 103206669 + Splice_Site SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005045.3 -1 reviewed e33+2 1.000 110 0% 81 29.6% 0 - - - - - MLL5 55904 genome.wustl.edu 37 7 104717872 104717872 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018682.3 +1 reviewed p.F374L 1.000 261 0% 313 31% 3 33.3% possibly_damaging(0.819) tolerated(0.15) deleterious(0.550) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain MLL5 55904 genome.wustl.edu 37 7 104748330 104748330 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018682.3 +1 reviewed p.I1142 0.867 156 0% 121 16.5% 6 33.3% - - - NULL SRPK2 6733 genome.wustl.edu 37 7 104783684 104783684 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182692.1 -1 validated p.E303* 1.000 370 0% 338 29.3% 0 - - - - superfamily_Kinase_like,HMMPfam_Pkinase SRPK2 6733 genome.wustl.edu 37 7 104909273 104909273 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182691.1 -1 validated p.E6D 1.000 145 0% 151 25.8% 0 - unknown(0) tolerated(0.16) - NULL PUS7 54517 genome.wustl.edu 37 7 105122872 105122872 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019042.3 -1 validated p.R312S 1.000 154 0% 195 24.1% 0 - probably_damaging(0.985) tolerated(0.46) neutral(0.444) HMMPfam_TruD,superfamily_PsdUridine_synth_cat_dom CDHR3 222256 genome.wustl.edu 37 7 105662697 105662697 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152750.4 +1 validated p.R627C 0.471 212 0% 252 36.1% 0 - probably_damaging(0.975) deleterious(0.02) deleterious(0.800) HMMPfam_Cadherin,superfamily_Cadherin-like CDHR3 222256 genome.wustl.edu 37 7 105672861 105672861 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152750.4 +1 validated p.F792L 1.000 46 0% 41 26.8% 0 - probably_damaging(0.979) tolerated(0.25) neutral(0.459) NULL PIK3CG 5294 genome.wustl.edu 37 7 106526695 106526695 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002649.2 +1 reviewed p.G996 0.976 153 0.7% 140 24.3% 1 0% - - - HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) SLC26A4 5172 genome.wustl.edu 37 7 107330579 107330579 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000441.1 +1 reviewed p.A387D 1.000 225 0% 271 25.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfate_transp LAMB1 3912 genome.wustl.edu 37 7 107569979 107569979 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002291.2 -1 reviewed p.Q1541H 1.000 172 0% 157 22.9% 123 25.2% benign(0.054) tolerated(0.22) neutral(0.046) superfamily_Prefoldin LAMB1 3912 genome.wustl.edu 37 7 107621249 107621249 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002291.2 -1 reviewed p.L228F 1.000 85 0% 66 27.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Laminin_N,HMMSmart_SM00136 LAMB4 22798 genome.wustl.edu 37 7 107669500 107669500 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007356.2 -1 validated p.R1712 0.019 180 0% 185 25.4% 0 - - - - NULL LAMB4 22798 genome.wustl.edu 37 7 107692626 107692626 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007356.2 -1 validated p.A1278T 0.000 226 0% 186 32.3% 0 - benign(0.045) tolerated(0.57) neutral(0.009) NULL LAMB4 22798 genome.wustl.edu 37 7 107704399 107704399 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007356.2 -1 validated p.F956L 1.000 175 0% 129 27.1% 0 - probably_damaging(0.979) deleterious(0.04) deleterious(0.771) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_EGF/Laminin LAMB4 22798 genome.wustl.edu 37 7 107719945 107719945 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000414450 -1 known p.D589N 0.000 62 0% 46 26.1% 0 - - - - NULL LAMB4 22798 genome.wustl.edu 37 7 107732842 107732842 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007356.2 -1 validated p.G497V 0.044 99 0% 124 29% 0 - benign(0.054) deleterious(0.01) neutral(0.409) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_EGF/Laminin LAMB4 22798 genome.wustl.edu 37 7 107743489 107743489 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007356.2 -1 validated p.P394S 0.789 44 0% 31 35.5% 0 - probably_damaging(0.955) tolerated(0.3) neutral(0.427) PatternScan_EGF_LAM_1,superfamily_EGF/Laminin NRCAM 4897 genome.wustl.edu 37 7 107790525 107790525 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037132.1 -1 reviewed p.E1249* 1.000 437 0% 590 21.5% 1 0% - - - NULL NRCAM 4897 genome.wustl.edu 37 7 107836304 107836304 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037132.1 -1 reviewed p.R455Q 1.000 69 0% 42 23.8% 0 - probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_I-set,superfamily_Immunoglobulin LRRN3 54674 genome.wustl.edu 37 7 110763006 110763006 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099658.1 +1 validated p.L60I 1.000 397 0% 349 29.5% 0 - possibly_damaging(0.882) deleterious(0.01) deleterious(0.750) HMMSmart_SM00013,superfamily_L domain-like LRRN3 54674 genome.wustl.edu 37 7 110763240 110763240 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099658.1 +1 validated p.E138K 0.987 252 0% 192 20.8% 0 - benign(0.003) tolerated(0.09) neutral(0.296) HMMSmart_SM00369,superfamily_L domain-like LRRN3 54674 genome.wustl.edu 37 7 110763396 110763396 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099658.1 +1 validated p.L190I 1.000 263 0% 195 21% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like C7orf60 154743 genome.wustl.edu 37 7 112461939 112461939 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152556.2 -1 validated p.R360* 1.000 140 0% 104 20.2% 1 100% - - - NULL C7orf60 154743 genome.wustl.edu 37 7 112462322 112462322 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152556.2 -1 validated p.S232Y 1.000 100 0% 81 30.9% 0 - benign(0) tolerated(0.74) neutral(0.002) NULL PPP1R3A 5506 genome.wustl.edu 37 7 113518642 113518642 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002711.3 -1 reviewed p.E835D 0.976 604 0.2% 537 29.2% 0 - benign(0.059) tolerated(0.11) neutral(0.276) NULL PPP1R3A 5506 genome.wustl.edu 37 7 113558745 113558745 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002711.3 -1 reviewed p.E103* 1.000 190 0% 188 28.7% 0 - - - - NULL PPP1R3A 5506 genome.wustl.edu 37 7 113558991 113558991 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002711.3 -1 reviewed p.L21V 0.948 205 0% 170 35.9% 0 - benign(0.093) tolerated(0.4) neutral(0.023) NULL FOXP2 93986 genome.wustl.edu 37 7 114066708 114066708 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_148898.2 +1 reviewed p.E48* 1.000 187 0% 156 25% 0 - - - - NULL FOXP2 93986 genome.wustl.edu 37 7 114329958 114329958 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_148898.2 +1 reviewed p.P734S 1.000 159 0% 181 31.5% 0 - unknown(0) tolerated(0.6) - NULL TES 26136 genome.wustl.edu 37 7 115890525 115890525 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015641.2 +1 reviewed p.S226Y 0.017 77 0% 49 22.4% 27 25.9% benign(0.237) deleterious(0.01) neutral(0.429) NULL MET 4233 genome.wustl.edu 37 7 116398560 116398560 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127500.1 +1 reviewed p.S717* 0.102 373 0% 216 31.5% 0 - - - - HMMPfam_TIG,HMMSmart_IPT,superfamily_Ig_E-set MET 4233 genome.wustl.edu 37 7 116411995 116411995 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127500.1 +1 reviewed p.E1012* 1.000 160 0% 89 39.3% 0 - - - - NULL CFTR 1080 genome.wustl.edu 37 7 117230480 117230480 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000492.3 +1 reviewed p.E585* 1.000 106 0% 91 31.9% 1 0% - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases CTTNBP2 83992 genome.wustl.edu 37 7 117374987 117374987 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033427.2 -1 reviewed p.R1286* 0.102 83 0% 82 25.6% 1 0% - - - NULL ANKRD7 56311 genome.wustl.edu 37 7 117879966 117879966 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000417525 +1 known e6-1 0.190 151 0% 83 20.5% 0 - - - - - KCND2 3751 genome.wustl.edu 37 7 119915653 119915653 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012281.2 +1 reviewed p.E323* 1.000 77 0% 62 11.3% 1 0% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels C7orf58 79974 genome.wustl.edu 37 7 120780957 120780957 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024913.4 +1 validated p.K592N 0.998 66 0% 78 26.9% 0 - benign(0.018) tolerated(0.37) neutral(0.019) NULL C7orf58 79974 genome.wustl.edu 37 7 120906385 120906385 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024913.4 +1 validated p.F805L 0.750 453 0% 555 33.9% 3 0% benign(0.002) tolerated(1) - NULL WNT16 51384 genome.wustl.edu 37 7 120979235 120979235 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_057168.1 +1 reviewed p.R312C 1.000 117 0% 106 17% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_wnt,HMMSmart_SM00097 PTPRZ1 5803 genome.wustl.edu 37 7 121650423 121650423 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002851.2 +1 reviewed p.A441 0.011 486 0% 481 32.2% 0 - - - - NULL PTPRZ1 5803 genome.wustl.edu 37 7 121653769 121653769 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002851.2 +1 reviewed p.D1557N 1.000 230 0% 172 23.8% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121671535 121671535 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002851.2 +1 reviewed p.V1696 1.000 116 0% 110 30.9% 1 100% - - - superfamily_(Phosphotyrosine protein) phosphatases II PTPRZ1 5803 genome.wustl.edu 37 7 121695024 121695024 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002851.2 +1 reviewed p.N2137 1.000 292 0% 238 23.1% 0 - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II CADPS2 93664 genome.wustl.edu 37 7 122261767 122261767 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017954.10 -1 reviewed p.R291I 1.000 210 0% 154 24.7% 0 - benign(0.278) deleterious(0) deleterious(0.475) NULL SLC13A1 6561 genome.wustl.edu 37 7 122759214 122759214 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022444.3 -1 validated p.S478Y 0.990 157 0% 112 31.2% 0 - probably_damaging(0.961) deleterious(0) deleterious(0.849) HMMPfam_Na_sulph_symp SLC13A1 6561 genome.wustl.edu 37 7 122839956 122839956 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022444.3 -1 validated p.F15 0.001 186 0% 225 25.3% 0 - - - - HMMPfam_Na_sulph_symp IQUB 154865 genome.wustl.edu 37 7 123109351 123109351 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178827.4 -1 validated p.N500H 0.549 174 0% 148 18.2% 0 - possibly_damaging(0.508) tolerated(0.09) neutral(0.467) NULL IQUB 154865 genome.wustl.edu 37 7 123136912 123136912 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178827.4 -1 validated p.V358I 0.103 212 0% 174 25.9% 2 100% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) NULL IQUB 154865 genome.wustl.edu 37 7 123143344 123143344 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178827.4 -1 validated p.I202 0.576 469 0% 415 30.1% 0 - - - - HMMPfam_DUF2021,superfamily_Ubiquitin-like ASB15 142685 genome.wustl.edu 37 7 123254568 123254568 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080928.3 +1 validated p.N4K 0.243 389 0% 292 25.3% 0 - benign(0.013) tolerated(0.29) neutral(0.030) NULL ASB15 142685 genome.wustl.edu 37 7 123276904 123276904 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080928.3 +1 validated p.R546* 1.000 231 0% 195 22.6% 0 - - - - HMMPfam_SOCS_box,HMMSmart_SM00253 HYAL4 23553 genome.wustl.edu 37 7 123509122 123509122 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012269.2 +1 reviewed p.W265* 0.062 200 0% 158 24.1% 0 - - - - HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat SPAM1 6677 genome.wustl.edu 37 7 123594358 123594358 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003117.4 +1 reviewed p.R245I 1.000 283 0% 385 30.9% 0 - probably_damaging(0.96) deleterious(0) deleterious(0.848) HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat SPAM1 6677 genome.wustl.edu 37 7 123595075 123595075 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003117.4 +1 reviewed p.E327* 1.000 338 0% 435 22.3% 0 - - - - HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat GPR37 2861 genome.wustl.edu 37 7 124387171 124387171 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005302.2 -1 provisional p.E417V 1.000 111 0% 142 15.5% 0 - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR37 2861 genome.wustl.edu 37 7 124387286 124387286 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005302.2 -1 provisional p.T379A 0.989 76 0% 122 31.1% 2 0% possibly_damaging(0.702) deleterious(0.05) deleterious(0.598) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR37 2861 genome.wustl.edu 37 7 124404056 124404056 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005302.2 -1 provisional p.K325N 1.000 132 0% 121 37.2% 2 50% possibly_damaging(0.541) tolerated(0.07) deleterious(0.502) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GRM8 2918 genome.wustl.edu 37 7 126542606 126542606 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000845.2 -1 reviewed p.K382N 1.000 160 0% 175 25.7% 0 - benign(0.122) tolerated(0.17) neutral(0.069) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRM8 2918 genome.wustl.edu 37 7 126542657 126542657 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000845.2 -1 reviewed p.E365D 1.000 174 0% 167 29.3% 0 - benign(0) tolerated(0.76) neutral(0.001) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRM8 2918 genome.wustl.edu 37 7 126883168 126883168 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000845.2 -1 reviewed p.T31A 1.000 130 0% 92 32.6% 0 - benign(0) tolerated(0.25) neutral(0.037) NULL PAX4 5078 genome.wustl.edu 37 7 127253874 127253874 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006193.2 -1 reviewed p.H158 1.000 91 0% 107 23.4% 0 - - - - superfamily_Homeodomain_like MIR129-1 406917 genome.wustl.edu 37 7 127847949 127847949 + RNA SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000384972 +1 known NULL 1.000 20 0% 20 35% 0 - - - - - IMPDH1 3614 genome.wustl.edu 37 7 128034511 128034511 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000883.3 -1 reviewed p.R565W 1.000 41 0% 21 38.1% 30 13.3% possibly_damaging(0.923) deleterious(0.03) deleterious(0.737) HMMPfam_IMPDH,superfamily_SSF51412 FAM71F1 84691 genome.wustl.edu 37 7 128355522 128355522 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032599.2 +1 validated p.K9N 0.949 98 0% 110 30.9% 0 - benign(0.235) deleterious(0) neutral(0.468) NULL CCDC136 64753 genome.wustl.edu 37 7 128445884 128445884 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022742.3 +1 validated p.R340W 0.939 23 0% 32 21.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CCDC136 64753 genome.wustl.edu 37 7 128446426 128446426 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022742.3 +1 validated p.L409I 0.000 30 0% 23 21.7% 0 - benign(0.01) tolerated(0.55) neutral(0.007) NULL CCDC136 64753 genome.wustl.edu 37 7 128450379 128450379 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022742.3 +1 validated p.D663Y 0.000 77 0% 45 11.1% 0 - possibly_damaging(0.805) deleterious(0) deleterious(0.748) NULL FLNC 2318 genome.wustl.edu 37 7 128486150 128486150 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001458.4 +1 reviewed p.K1299N 1.000 19 0% 41 22% 0 - benign(0) tolerated(0.49) neutral(0.011) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin IRF5 3663 genome.wustl.edu 37 7 128588361 128588361 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098629.1 +1 reviewed p.E426D 1.000 100 0% 92 26.1% 4 50% benign(0.075) deleterious(0) neutral(0.450) superfamily_SMAD_FHA,HMMPfam_IRF-3 AHCYL2 23382 genome.wustl.edu 37 7 129029014 129029014 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015328.2 +1 validated p.R198Q 1.000 217 0% 192 25% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AdoHcyase,superfamily_SSF52283 C7orf45 136263 genome.wustl.edu 37 7 129856292 129856292 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145268.3 +1 validated p.K239N 0.836 407 0% 412 20.9% 0 - benign(0.011) deleterious(0.03) neutral(0.365) NULL CPA2 1358 genome.wustl.edu 37 7 129912925 129912925 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001869.2 +1 reviewed p.E132* 0.990 101 0% 110 25.5% 0 - - - - HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases CPA1 1357 genome.wustl.edu 37 7 130021666 130021666 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001868.2 +1 reviewed p.D115N 0.006 28 0% 26 34.6% 0 - benign(0) tolerated(0.81) neutral(0.001) superfamily_SSF53187 CPA1 1357 genome.wustl.edu 37 7 130023570 130023570 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001868.2 +1 reviewed p.D211N 0.003 101 0% 105 23.8% 0 - benign(0) tolerated(1) - HMMPfam_Peptidase_M14,HMMSmart_Zn_pept,superfamily_SSF53187 TSGA13 114960 genome.wustl.edu 37 7 130357643 130357643 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052933.2 -1 provisional p.S154Y 0.000 106 0.9% 92 29.3% 0 - probably_damaging(0.96) tolerated(0.05) deleterious(0.748) NULL MKLN1 4289 genome.wustl.edu 37 7 131130592 131130592 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013255.4 +1 validated p.F485L 1.000 273 0% 241 33.2% 1 0% benign(0.054) tolerated(0.25) neutral(0.041) HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain PLXNA4 91584 genome.wustl.edu 37 7 131825379 131825379 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020911.1 -1 validated p.S1806N 1.000 131 0% 120 32.5% 1 0% benign(0.002) tolerated(1) - superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl PLXNA4 91584 genome.wustl.edu 37 7 131866367 131866367 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020911.1 -1 validated p.L1089M 1.000 46 0% 65 26.2% 0 - benign(0.115) tolerated(0.17) neutral(0.068) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains PLXNA4 91584 genome.wustl.edu 37 7 132169656 132169656 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181775.3 -1 validated p.C496* 0.000 235 0% 277 23.8% 0 - - - - superfamily_Sema LRGUK 136332 genome.wustl.edu 37 7 133824198 133824198 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144648.1 +1 provisional p.L139V 0.377 51 0% 71 22.5% 1 100% probably_damaging(0.99) deleterious(0.04) deleterious(0.790) superfamily_SSF52058 LRGUK 136332 genome.wustl.edu 37 7 133876470 133876470 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144648.1 +1 provisional p.I466 0.810 257 0% 305 31.8% 0 - - - - HMMPfam_Guanylate_kin,HMMSmart_GuKc,superfamily_SSF52540 LRGUK 136332 genome.wustl.edu 37 7 133943054 133943054 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144648.1 +1 provisional p.F748L 0.000 152 0% 121 31.4% 1 100% benign(0.009) deleterious(0.04) neutral(0.349) NULL CALD1 800 genome.wustl.edu 37 7 134618525 134618525 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033138.3 +1 reviewed p.E335D 0.016 153 0% 173 27.2% 0 - unknown(0) tolerated(0.19) - HMMPfam_Caldesmon CALD1 800 genome.wustl.edu 37 7 134618683 134618683 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033138.3 +1 reviewed p.R388H 0.000 340 0% 459 29.6% 0 - unknown(0) tolerated(0.1) - HMMPfam_Caldesmon CALD1 800 genome.wustl.edu 37 7 134625842 134625842 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033138.3 +1 reviewed e5-1 1.000 143 0% 101 26.7% 0 - - - - - WDR91 29062 genome.wustl.edu 37 7 134878368 134878368 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014149.3 -1 validated p.K484N 1.000 28 0% 30 40% 18 38.8% probably_damaging(1) tolerated(0.05) deleterious(0.845) superfamily_WD40 repeat-like CNOT4 4850 genome.wustl.edu 37 7 135048716 135048716 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000262563 -1 known p.S577Y 1.000 301 0% 331 31.4% 15 33.3% possibly_damaging(0.528) deleterious(0.01) deleterious(0.584) NULL CNOT4 4850 genome.wustl.edu 37 7 135078728 135078728 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013316.2 -1 validated p.F520L 1.000 104 0% 87 17.2% 5 40% probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL CNOT4 4850 genome.wustl.edu 37 7 135080559 135080559 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013316.2 -1 validated p.N316T 1.000 161 0% 148 29.7% 8 25% benign(0) tolerated(0.08) neutral(0.300) NULL NUP205 23165 genome.wustl.edu 37 7 135258481 135258481 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015135.2 +1 validated p.R84Q 1.000 147 0% 172 34.3% 5 20% probably_damaging(0.959) tolerated(0.19) neutral(0.452) NULL NUP205 23165 genome.wustl.edu 37 7 135261103 135261103 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015135.2 +1 validated p.A143 0.624 309 0% 278 30.6% 1 0% - - - NULL NUP205 23165 genome.wustl.edu 37 7 135301962 135301962 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015135.2 +1 validated p.K1219N 1.000 144 0% 105 23.8% 4 75% benign(0.286) tolerated(0.49) neutral(0.098) NULL NUP205 23165 genome.wustl.edu 37 7 135304353 135304353 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015135.2 +1 validated p.E1382D 0.018 188 0% 137 29.9% 4 25% benign(0.01) tolerated(0.61) neutral(0.005) NULL DGKI 9162 genome.wustl.edu 37 7 137262005 137262005 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004717.2 -1 reviewed p.R575I 1.000 35 0% 22 27.3% 0 - probably_damaging(0.98) tolerated(0.06) deleterious(0.746) HMMPfam_DAGK_acc,HMMSmart_DAGKa SVOPL 136306 genome.wustl.edu 37 7 138281185 138281185 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001139456.1 -1 validated p.E482K 1.000 99 1% 107 31.8% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_MFS general substrate transporter TMEM213 155006 genome.wustl.edu 37 7 138487655 138487655 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001085429.1 +1 validated p.F55L 1.000 49 0% 37 32.4% 0 - possibly_damaging(0.767) deleterious(0) deleterious(0.729) NULL ZC3HAV1 56829 genome.wustl.edu 37 7 138739960 138739960 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020119.3 -1 reviewed p.K726N 0.000 378 0% 362 29% 3 66.6% benign(0.001) tolerated(0.76) neutral(0.001) superfamily_ADP-ribosylation UBN2 254048 genome.wustl.edu 37 7 138946316 138946316 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000483726 +1 known p.S177L 0.999 155 0% 126 34.1% 0 - - - - NULL UBN2 254048 genome.wustl.edu 37 7 138951117 138951117 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173569.3 +1 validated p.F395L 1.000 171 0% 109 30.3% 0 - probably_damaging(0.994) tolerated(0.08) deleterious(0.752) NULL UBN2 254048 genome.wustl.edu 37 7 138969029 138969029 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173569.3 +1 validated p.L1043F 1.000 168 0% 211 25.6% 3 0% probably_damaging(0.982) tolerated(0.09) deleterious(0.723) NULL TBXAS1 6916 genome.wustl.edu 37 7 139657497 139657497 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001061.4 +1 reviewed p.L252 1.000 150 0% 86 32.6% 10 0% - - - HMMPfam_p450,superfamily_Cytochrome P450 DENND2A 27147 genome.wustl.edu 37 7 140257964 140257964 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015689.3 -1 validated p.F646 0.940 46 0% 39 28.2% 1 0% - - - HMMPfam_uDENN,HMMSmart_SM00800 MRPS33 51650 genome.wustl.edu 37 7 140706286 140706286 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016071.3 -1 reviewed p.R89S 1.000 317 0% 269 21.6% 70 32.8% unknown(0) deleterious(0) - HMMPfam_MRP-S33 WEE2 494551 genome.wustl.edu 37 7 141408668 141408668 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105558.1 +1 validated p.S37L 0.004 325 0% 538 37.5% 0 - benign(0.056) tolerated(0.47) neutral(0.014) NULL TAS2R5 54429 genome.wustl.edu 37 7 141490218 141490218 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018980.2 +1 reviewed p.I19 0.009 101 0% 94 27.7% 0 - - - - HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like CLEC5A 23601 genome.wustl.edu 37 7 141629904 141629904 + Nonstop_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013252.2 -1 reviewed p.*189W 0.350 120 0% 77 32.5% 1 0% - - - NULL PRSS58 136541 genome.wustl.edu 37 7 141957498 141957498 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001317.2 -1 reviewed p.L10F 0.011 359 0% 343 20.1% 0 - possibly_damaging(0.938) tolerated(0.12) deleterious(0.644) superfamily_Pept_Ser_Cys PRSS58 136541 genome.wustl.edu 37 7 141957520 141957520 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001317.2 -1 reviewed p.F3C 0.020 341 0% 307 17.6% 0 - probably_damaging(1) tolerated(0.21) deleterious(0.544) NULL TRBV2 28620 genome.wustl.edu 37 7 142001160 142001160 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000455382 +1 known p.F51L 0.004 55 0% 49 30.6% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin TRBV4-1 28617 genome.wustl.edu 37 7 142013310 142013310 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000390357 +1 known p.K55 0.345 299 0% 303 31.7% 0 - - - - HMMPfam_V-set,superfamily_Immunoglobulin TRBV6-1 28606 genome.wustl.edu 37 7 142028523 142028523 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000390353 +1 known p.S86F 0.002 372 0% 358 27.1% 4 0% probably_damaging(0.972) deleterious(0) deleterious(0.859) HMMPfam_V-set,superfamily_SSF48726 TRBV6-9 28598 genome.wustl.edu 37 7 142104186 142104186 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000390379 -1 known p.F93 0.003 377 0% 457 31.3% 0 - - - - HMMPfam_V-set,superfamily_SSF48726 TRBV6-7 28600 genome.wustl.edu 37 7 142143833 142143833 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000390373 -1 known p.R55* 0.292 475 0.2% 532 25.9% 0 - - - - HMMPfam_V-set,superfamily_SSF48726 TRBV6-7 28600 genome.wustl.edu 37 7 142144064 142144064 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000390373 -1 known p.C7 0.000 338 0% 388 20.1% 0 - - - - NULL TRBV5-4 28611 genome.wustl.edu 37 7 142168576 142168576 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000454561 -1 known p.N49K 0.000 235 0% 258 32.9% 1 0% benign(0) tolerated(0.92) - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin TRBV9 28586 genome.wustl.edu 37 7 142239631 142239631 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000390363 -1 known p.F83L 0.429 287 0% 258 27.5% 3 0% possibly_damaging(0.466) deleterious(0.01) deleterious(0.558) HMMPfam_V-set,superfamily_SSF48726 TRBV5-3 28612 genome.wustl.edu 37 7 142242398 142242398 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000390362 -1 known p.E76* 0.029 118 0% 83 22.9% 0 - - - - HMMPfam_V-set,superfamily_SSF48726 TRBV6-4 28603 genome.wustl.edu 37 7 142250815 142250815 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000390360 -1 known p.E78* 0.023 210 0% 194 30.9% 2 0% - - - HMMPfam_V-set,superfamily_SSF48726 TRBV19 28568 genome.wustl.edu 37 7 142327008 142327008 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000390393 +1 known p.K102N 0.010 365 0% 366 25.4% 4 0% benign(0.327) tolerated(0.32) neutral(0.127) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin TRBV24-1 28563 genome.wustl.edu 37 7 142364644 142364644 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000390397 +1 known p.F93L 0.067 331 0% 226 27% 1 0% benign(0.356) tolerated(0.16) neutral(0.172) HMMPfam_V-set,superfamily_SSF48726 EPHB6 2051 genome.wustl.edu 37 7 142566105 142566105 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004445.3 +1 reviewed p.V675 1.000 63 1.6% 52 44.2% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) TRPV5 56302 genome.wustl.edu 37 7 142605914 142605914 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019841.4 -1 reviewed p.K652N 0.800 182 0% 232 23.3% 0 - benign(0.015) tolerated(0.2) neutral(0.050) NULL TRPV5 56302 genome.wustl.edu 37 7 142627518 142627518 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019841.4 -1 reviewed p.R51Q 0.026 149 0% 132 31.8% 0 - benign(0.001) tolerated(0.33) neutral(0.024) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat OR9A2 135924 genome.wustl.edu 37 7 142723455 142723455 + Silent SNP G G A rs188754455 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001658.1 -1 provisional p.Y255 0.016 163 0% 107 33.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR9A2 135924 genome.wustl.edu 37 7 142723714 142723714 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001658.1 -1 provisional p.S169* 0.001 356 0% 269 26% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR9A2 135924 genome.wustl.edu 37 7 142723968 142723968 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001658.1 -1 provisional p.L84 0.903 240 0% 205 24.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR6V1 346517 genome.wustl.edu 37 7 142749455 142749455 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001667.1 +1 provisional p.Q6 0.001 371 0% 334 27.5% 0 - - - - superfamily_Family A G protein-coupled receptor-like PIP 5304 genome.wustl.edu 37 7 142836228 142836228 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002652.2 +1 validated p.A88S 0.000 149 0% 149 20.8% 0 - benign(0) tolerated(0.5) neutral(0.010) HMMPfam_SVA TAS2R39 259285 genome.wustl.edu 37 7 142881147 142881147 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176881.2 +1 provisional p.F212L 0.002 379 0.3% 373 28.4% 0 - benign(0.001) tolerated(1) - HMMPfam_TAS2R,superfamily_SSF81321 TAS2R40 259286 genome.wustl.edu 37 7 142919522 142919522 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176882.1 +1 provisional p.V117 1.000 525 0% 447 15% 0 - - - - HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like TAS2R40 259286 genome.wustl.edu 37 7 142919762 142919762 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176882.1 +1 provisional p.F197L 0.000 417 0% 313 31.3% 0 - benign(0) tolerated(1) - HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like CLCN1 1180 genome.wustl.edu 37 7 143028383 143028383 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000083.2 +1 reviewed p.K346N 1.000 144 0% 176 21% 0 - benign(0.025) deleterious(0.01) neutral(0.407) HMMPfam_Voltage_CLC,superfamily_Clc chloride channel TAS2R41 259287 genome.wustl.edu 37 7 143175837 143175837 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176883.2 +1 provisional p.R291Q 0.005 91 0% 76 40.8% 0 - possibly_damaging(0.624) tolerated(0.08) deleterious(0.517) HMMPfam_TAS2R,superfamily_SSF81321 OR2A25 392138 genome.wustl.edu 37 7 143771523 143771523 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004488.1 +1 provisional p.A71T 0.001 161 0% 225 30.2% 0 - benign(0.005) deleterious(0.03) neutral(0.364) HMMPfam_7tm_1,superfamily_SSF81321 OR2A25 392138 genome.wustl.edu 37 7 143772001 143772001 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004488.1 +1 provisional p.G230E 0.000 370 0% 323 22.9% 0 - benign(0.005) tolerated(0.35) neutral(0.021) HMMPfam_7tm_1,superfamily_SSF81321 ARHGEF35 445328 genome.wustl.edu 37 7 143884379 143884379 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001003702.2 -1 validated p.E366D 0.000 79 0% 94 25.5% 1 0% benign(0.152) tolerated(0.64) neutral(0.017) NULL OR2A7 401427 genome.wustl.edu 37 7 143955912 143955912 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005328.1 -1 provisional p.K270N 0.944 663 0% 590 10.2% 0 - probably_damaging(0.996) tolerated(0.18) deleterious(0.518) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2A1 346528 genome.wustl.edu 37 7 144015219 144015219 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005287.1 +1 provisional p.M1T 0.986 179 0% 193 16.1% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL TPK1 27010 genome.wustl.edu 37 7 144364917 144364917 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000378099 -1 known p.S24 0.000 136 0% 129 27.9% 0 - unknown(0) - - superfamily_TPK_catalytic CNTNAP2 26047 genome.wustl.edu 37 7 147092717 147092717 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014141.5 +1 reviewed p.M505I 0.999 267 0% 289 30.4% 0 - benign(0.055) tolerated(0.38) neutral(0.021) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CNTNAP2 26047 genome.wustl.edu 37 7 147600755 147600755 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014141.5 +1 reviewed p.E733K 0.914 30 0% 49 12.2% 0 - benign(0.113) tolerated(0.16) neutral(0.068) superfamily_Concanavalin A-like lectins/glucanases CNTNAP2 26047 genome.wustl.edu 37 7 147914548 147914548 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014141.5 +1 reviewed p.A1060V 0.997 185 0% 179 23.5% 0 - possibly_damaging(0.465) deleterious(0.01) deleterious(0.558) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CNTNAP2 26047 genome.wustl.edu 37 7 147926866 147926866 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014141.5 +1 reviewed p.L1126I 0.447 397 0% 345 27% 0 - benign(0.128) tolerated(1) neutral(0.011) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 EZH2 2146 genome.wustl.edu 37 7 148504761 148504761 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004456.3 -1 reviewed p.E745K 1.000 16 0% 16 56.2% 35 77.1% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL PDIA4 9601 genome.wustl.edu 37 7 148716136 148716136 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004911.4 -1 validated p.K141 1.000 21 0% 28 39.3% 172 50.5% - - - superfamily_Thioredoxin-like,HMMPfam_Thioredoxin ZNF425 155054 genome.wustl.edu 37 7 148802507 148802507 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001661.2 -1 validated p.E152 0.003 157 0.6% 169 21.3% 0 - - - - NULL LOC100288645 100288645 genome.wustl.edu 37 7 149152673 149152673 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002342805.1 +1 model p.R177Q 0.109 60 0% 52 23.1% 3 66.6% - - - NULL GIMAP7 168537 genome.wustl.edu 37 7 150217911 150217911 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153236.3 +1 reviewed p.M283I 0.000 289 0% 234 30.8% 0 - benign(0.001) tolerated(0.65) neutral(0.003) NULL GIMAP4 55303 genome.wustl.edu 37 7 150270001 150270001 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018326.2 +1 reviewed p.K281N 0.000 373 0% 352 24.1% 41 0% possibly_damaging(0.545) tolerated(0.34) neutral(0.208) NULL GIMAP6 474344 genome.wustl.edu 37 7 150324701 150324701 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000477013 -1 known p.S87* 0.001 87 0% 71 36.6% 3 0% - - - NULL GIMAP6 474344 genome.wustl.edu 37 7 150325616 150325616 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000438845 -1 known p.L94I 0.000 221 0% 193 33.2% 0 - benign(0.01) deleterious(0.01) neutral(0.406) NULL TMEM176A 55365 genome.wustl.edu 37 7 150499323 150499323 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018487.2 +1 validated p.G65 0.001 47 0% 27 14.8% 35 0% - - - HMMPfam_LR8 ABP1 26 genome.wustl.edu 37 7 150553879 150553879 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001091.2 +1 reviewed p.E107 0.004 87 0% 86 17.4% 0 - - - - HMMPfam_Cu_amine_oxidN2,superfamily_Amine oxidase N-terminal region SMARCD3 6604 genome.wustl.edu 37 7 150939280 150939280 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000489503 -1 known p.E84* 1.000 105 0% 73 32.9% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SMARCD3 6604 genome.wustl.edu 37 7 150939679 150939679 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001003801.1 -1 reviewed p.K156T 1.000 145 0% 171 34.5% 8 25% benign(0.001) tolerated(0.46) neutral(0.012) NULL GALNTL5 168391 genome.wustl.edu 37 7 151668056 151668056 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145292.3 +1 validated p.E92K 0.031 147 0% 106 27.4% 0 - possibly_damaging(0.888) tolerated(0.09) deleterious(0.644) superfamily_Nucleotide-diphospho-sugar transferases GALNTL5 168391 genome.wustl.edu 37 7 151680198 151680198 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145292.3 +1 validated p.L166I 0.700 136 0% 96 24% 0 - benign(0.098) tolerated(0.16) neutral(0.067) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases GALNTL5 168391 genome.wustl.edu 37 7 151699934 151699934 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145292.3 +1 validated p.E265G 0.001 126 0% 121 26.4% 0 - possibly_damaging(0.646) tolerated(0.09) deleterious(0.523) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases MLL3 58508 genome.wustl.edu 37 7 151835975 151835975 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_170606.2 -1 reviewed p.S4850L 1.000 162 0% 127 24.4% 13 23% unknown(0) - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain MLL3 58508 genome.wustl.edu 37 7 151859925 151859925 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000360104 -1 known p.T1085A 0.263 186 0% 173 31.2% 0 - - - - NULL MLL3 58508 genome.wustl.edu 37 7 151879228 151879228 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_170606.2 -1 reviewed p.R1906Q 1.000 259 0% 238 29% 0 - probably_damaging(1) - - NULL MLL3 58508 genome.wustl.edu 37 7 151879600 151879600 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_170606.2 -1 reviewed p.Q1782P 1.000 515 0% 447 32.7% 0 - probably_damaging(0.999) - - NULL MLL3 58508 genome.wustl.edu 37 7 151891161 151891161 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_170606.2 -1 reviewed p.A1531 0.000 236 0% 181 24.3% 0 - - - - NULL MLL3 58508 genome.wustl.edu 37 7 152055755 152055755 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_170606.2 -1 reviewed p.R56Q 1.000 297 0% 282 25.9% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LOC100288889 100288889 genome.wustl.edu 37 7 152841539 152841539 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002342789.1 -1 model p.N45 1.000 36 0% 22 45.5% 0 - - - - superfamily_Ubiquitin-like DPP6 1804 genome.wustl.edu 37 7 154379433 154379433 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000406326 +1 known p.A234D 0.000 26 0% 19 31.6% 0 - benign(0.359) - - NULL CNPY1 285888 genome.wustl.edu 37 7 155301793 155301793 + Splice_Site SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001103176.1 -1 validated e1-1 1.000 38 0% 37 37.8% 0 - - - - - SHH 6469 genome.wustl.edu 37 7 155604570 155604570 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000193.2 -1 reviewed p.D83N 1.000 116 0% 192 16.1% 3 66.6% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_HH_signal,superfamily_Hedgehog_sig_N LMBR1 64327 genome.wustl.edu 37 7 156526939 156526939 + Missense_Mutation SNP G G A rs182641358 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022458.3 -1 reviewed p.S257L 0.981 216 0% 220 23.6% 2 50% benign(0.001) tolerated(0.25) neutral(0.037) HMMPfam_LMBR1 UBE3C 9690 genome.wustl.edu 37 7 156961791 156961791 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014671.2 +1 validated p.R57Q 1.000 142 0% 133 24.1% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IQ,HMMSmart_SM00015 WDR60 55112 genome.wustl.edu 37 7 158695262 158695262 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018051.4 +1 validated p.E445* 0.070 137 0% 115 23.5% 0 - - - - superfamily_WD40 repeat-like WDR60 55112 genome.wustl.edu 37 7 158705694 158705694 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018051.4 +1 validated p.E537K 1.000 68 0% 74 16.2% 1 0% probably_damaging(0.971) deleterious(0.02) deleterious(0.796) superfamily_WD40 repeat-like C8orf42 157695 genome.wustl.edu 37 8 442598 442598 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175075.3 -1 validated p.S120* 0.001 56 0% 53 26.4% 0 - - - - NULL DLGAP2 9228 genome.wustl.edu 37 8 1581034 1581034 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004745.3 +1 reviewed p.C464 1.000 42 0% 48 22.9% 0 - - - - NULL DLGAP2 9228 genome.wustl.edu 37 8 1581154 1581154 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004745.3 +1 reviewed p.D504 0.994 101 0% 82 20.7% 0 - - - - NULL MYOM2 9172 genome.wustl.edu 37 8 2050459 2050459 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003970.2 +1 validated p.V874 0.905 36 0% 42 28.6% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like MYOM2 9172 genome.wustl.edu 37 8 2065711 2065711 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003970.2 +1 validated p.T1141 0.347 147 0% 134 29.1% 0 - - - - superfamily_SSF48726 MYOM2 9172 genome.wustl.edu 37 8 2077200 2077200 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003970.2 +1 validated p.M1260I 1.000 162 0% 133 20.3% 0 - benign(0.001) tolerated(0.05) neutral(0.345) superfamily_SSF48726 MYOM2 9172 genome.wustl.edu 37 8 2088763 2088763 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003970.2 +1 validated p.F1306 0.009 231 0% 190 25.3% 0 - - - - superfamily_SSF48726 CSMD1 64478 genome.wustl.edu 37 8 3046428 3046428 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033225.5 -1 validated p.T1836M 0.059 32 0% 21 28.6% 0 - possibly_damaging(0.768) tolerated(0.07) deleterious(0.604) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD1 64478 genome.wustl.edu 37 8 3216752 3216752 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033225.5 -1 validated p.R1077S 1.000 114 0% 118 32.2% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD1 64478 genome.wustl.edu 37 8 3224730 3224730 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033225.5 -1 validated p.S981F 0.964 64 0% 66 22.7% 0 - probably_damaging(0.961) tolerated(0.27) neutral(0.438) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain FAM90A20P 728430 genome.wustl.edu 37 8 7155409 7155409 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000360191 +1 known p.P420S 0.006 13 0% 16 37.5% 0 - - - - NULL USP17L1P 401447 genome.wustl.edu 37 8 7190831 7190831 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000382655 +1 known p.S308F 1.000 109 0% 119 22.7% 0 - - - - HMMPfam_UCH,superfamily_SSF54001 ZNF705G 100131980 genome.wustl.edu 37 8 7215658 7215658 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000400156 -1 known p.R248I 0.967 844 0% 864 12.3% 0 - possibly_damaging(0.695) deleterious(0) deleterious(0.694) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF705G 100131980 genome.wustl.edu 37 8 7215978 7215978 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000400156 -1 known p.K141N 1.000 693 0% 764 13.7% 0 - benign(0.014) deleterious(0.03) neutral(0.365) superfamily_SSF57667 TNKS 8658 genome.wustl.edu 37 8 9622299 9622299 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003747.2 +1 validated p.R1149Q 1.000 26 0% 56 26.8% 3 0% benign(0.014) deleterious(0.02) neutral(0.384) HMMPfam_PARP,superfamily_ADP-ribosylation PRSS55 203074 genome.wustl.edu 37 8 10396104 10396104 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198464.2 +1 validated p.S287L 0.000 276 0% 261 30.3% 0 - benign(0.001) tolerated(0.34) neutral(0.023) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases RP1L1 94137 genome.wustl.edu 37 8 10467725 10467725 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178857.5 -1 validated p.N1295H 0.001 99 0% 64 25% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL PINX1 54984 genome.wustl.edu 37 8 10683727 10683727 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017884.4 -1 provisional p.S110Y 1.000 58 0% 45 28.9% 3 0% benign(0.257) tolerated(0.11) neutral(0.298) NULL XKR6 286046 genome.wustl.edu 37 8 10756221 10756221 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000382461 -1 known p.S166L 1.000 182 0% 206 24.3% 0 - - - - HMMPfam_XK-related FDFT1 2222 genome.wustl.edu 37 8 11683712 11683712 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004462.3 +1 reviewed p.F230L 1.000 194 0% 160 31.9% 113 61% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SQS_PSY,superfamily_Terpenoid synthases,PatternScan_SQUALEN_PHYTOEN_SYN_2 USP17L7 392197 genome.wustl.edu 37 8 11991178 11991178 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000416902 -1 known p.S114F 0.921 81 0% 76 23.7% 0 - - - - HMMPfam_UCH,superfamily_SSF54001 FAM86B1 85002 genome.wustl.edu 37 8 12040330 12040330 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NR_003494.1 -1 validated NULL 0.010 31 0% 28 21.4% 5 20% - - - - LONRF1 91694 genome.wustl.edu 37 8 12600699 12600699 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152271.3 -1 provisional p.L272I 1.000 126 0% 143 23.1% 1 0% benign(0.099) tolerated(0.08) neutral(0.307) HMMSmart_SM00028,superfamily_TPR-like DLC1 10395 genome.wustl.edu 37 8 12952359 12952359 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182643.2 -1 reviewed p.D1145 0.717 66 0% 85 40% 5 20% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP DLC1 10395 genome.wustl.edu 37 8 13259113 13259113 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182643.2 -1 reviewed p.R347* 0.976 241 0% 229 35.8% 0 - - - - NULL DLC1 10395 genome.wustl.edu 37 8 13356569 13356569 + Missense_Mutation SNP G G A rs191904737 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182643.2 -1 reviewed p.R338C 1.000 173 0% 134 32.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MSR1 4481 genome.wustl.edu 37 8 16035480 16035480 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138715.2 -1 reviewed p.H6 0.000 110 0% 116 25% 0 - - - - NULL EFHA2 286097 genome.wustl.edu 37 8 16935364 16935364 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181723.2 +1 validated p.E214* 1.000 149 0% 108 27.8% 0 - - - - NULL EFHA2 286097 genome.wustl.edu 37 8 16974065 16974065 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181723.2 +1 validated p.E494* 1.000 173 0% 144 32.6% 0 - - - - HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 SLC7A2 6542 genome.wustl.edu 37 8 17409284 17409284 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003046.5 +1 validated p.R322W 1.000 192 0% 211 32.7% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_AA_permease SLC7A2 6542 genome.wustl.edu 37 8 17412528 17412528 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003046.5 +1 validated p.L417I 1.000 150 0% 214 30.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_AA_permease PDGFRL 5157 genome.wustl.edu 37 8 17486034 17486034 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006207.1 +1 reviewed p.D182N 1.000 299 0% 305 23% 11 9% benign(0.024) deleterious(0.01) neutral(0.407) superfamily_Immunoglobulin MTUS1 57509 genome.wustl.edu 37 8 17512100 17512100 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001924.2 -1 reviewed p.L1062 0.536 82 0% 110 22.7% 0 - - - - NULL MTUS1 57509 genome.wustl.edu 37 8 17554820 17554820 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020749.4 -1 reviewed p.R23* 1.000 310 0% 260 27.3% 0 - - - - NULL PCM1 5108 genome.wustl.edu 37 8 17813006 17813006 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006197.3 +1 validated p.R439K 1.000 43 0% 53 34% 6 0% possibly_damaging(0.799) tolerated(0.12) deleterious(0.561) NULL PCM1 5108 genome.wustl.edu 37 8 17814826 17814826 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006197.3 +1 validated p.Q567P 1.000 317 0% 280 33.2% 1 0% benign(0.012) deleterious(0.03) neutral(0.365) NULL PCM1 5108 genome.wustl.edu 37 8 17867069 17867069 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006197.3 +1 validated p.K1659T 1.000 68 0% 53 32.1% 6 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PCM1 5108 genome.wustl.edu 37 8 17869185 17869185 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006197.3 +1 validated p.K1787T 1.000 135 0% 109 24.8% 12 25% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL CSGALNACT1 55790 genome.wustl.edu 37 8 19315133 19315133 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NR_024040.1 -1 validated NULL 0.001 46 0% 23 52.2% 0 - - - - - SLC18A1 6570 genome.wustl.edu 37 8 20022588 20022588 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135691.2 -1 validated p.L297I 1.000 98 0% 71 21.1% 0 - possibly_damaging(0.927) tolerated(0.19) neutral(0.424) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter ATP6V1B2 526 genome.wustl.edu 37 8 20077845 20077845 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001693.3 +1 reviewed p.E490* 1.000 137 0% 154 33.8% 16 25% - - - HMMPfam_ATP-synt_ab_C XPO7 23039 genome.wustl.edu 37 8 21844746 21844746 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001100161.1 +1 validated p.R567C 1.000 247 0% 221 27.1% 4 25% probably_damaging(0.963) deleterious(0) deleterious(0.850) superfamily_ARM repeat LGI3 203190 genome.wustl.edu 37 8 22012907 22012907 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139278.2 -1 validated p.F92L 1.000 51 0% 38 23.7% 0 - benign(0.005) tolerated(1) - superfamily_SSF52058 PPP3CC 5533 genome.wustl.edu 37 8 22333038 22333038 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005605.3 +1 provisional p.F91L 1.000 109 0% 89 33.7% 5 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Metallophos,HMMSmart_PP2Ac,superfamily_SSF56300 SORBS3 10174 genome.wustl.edu 37 8 22423995 22423995 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005775.4 +1 validated p.R363Q 0.958 43 0% 45 35.6% 21 52.3% probably_damaging(0.989) tolerated(0.09) deleterious(0.736) superfamily_SH3-domain RHOBTB2 23221 genome.wustl.edu 37 8 22863573 22863573 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015178.2 +1 validated p.A133S 1.000 318 0% 296 25.7% 0 - benign(0.215) tolerated(0.09) neutral(0.318) HMMSmart_RHO,HMMPfam_Ras,superfamily_SSF52540 LOXL2 4017 genome.wustl.edu 37 8 23198574 23198574 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002318.2 -1 reviewed p.K225T 0.993 78 0% 96 22.9% 24 16.6% benign(0.005) tolerated(0.48) neutral(0.011) HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SR,superfamily_Srcr_receptor ADAMDEC1 27299 genome.wustl.edu 37 8 24249807 24249807 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014479.3 +1 validated p.L41F 0.007 159 0% 150 32.7% 0 - possibly_damaging(0.868) tolerated(0.05) deleterious(0.682) HMMPfam_Pep_M12B_propep ADAMDEC1 27299 genome.wustl.edu 37 8 24253271 24253271 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014479.3 +1 validated p.K134N 0.576 91 0% 86 27.9% 4 0% benign(0.025) tolerated(0.06) neutral(0.324) HMMPfam_Pep_M12B_propep ADAMDEC1 27299 genome.wustl.edu 37 8 24254847 24254847 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014479.3 +1 validated p.E169* 0.944 312 0.3% 267 19.9% 1 0% - - - HMMPfam_Pep_M12B_propep ADAM7 8756 genome.wustl.edu 37 8 24333986 24333986 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000380789 +1 known p.R225Q 0.989 294 0% 274 32.1% 0 - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM7 8756 genome.wustl.edu 37 8 24339715 24339715 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000380789 +1 known p.D256Y 1.000 130 0% 129 29.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM7 8756 genome.wustl.edu 37 8 24350084 24350084 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000380789 +1 known p.E543D 0.000 144 0% 108 32.4% 0 - benign(0) tolerated(0.22) neutral(0.042) HMMPfam_ADAM_CR,HMMSmart_SM00608 ADAM7 8756 genome.wustl.edu 37 8 24359044 24359044 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000380789 +1 known p.Q721 0.002 400 0% 435 27.4% 0 - - - - NULL NEFM 4741 genome.wustl.edu 37 8 24773148 24773148 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005382.2 +1 reviewed p.R371W 1.000 71 0% 70 21.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament NEFM 4741 genome.wustl.edu 37 8 24775344 24775344 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005382.2 +1 reviewed p.S659* 0.014 277 0% 215 25.6% 0 - - - - NULL NEFM 4741 genome.wustl.edu 37 8 24775396 24775396 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005382.2 +1 reviewed p.E676 0.002 213 0.5% 203 33% 1 0% - - - NULL DOCK5 80005 genome.wustl.edu 37 8 25154087 25154087 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024940.6 +1 validated p.E177K 0.898 47 0% 49 26.5% 1 0% benign(0) tolerated(0.92) - NULL SCARA3 51435 genome.wustl.edu 37 8 27516012 27516012 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016240.2 +1 reviewed e5-1 1.000 308 0% 313 28.1% 0 - - - - - ELP3 55140 genome.wustl.edu 37 8 27970632 27970632 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018091.5 +1 validated p.R187* 1.000 139 0% 118 34.7% 4 50% - - - HMMSmart_SM00729,HMMPfam_Radical_SAM,superfamily_Radical SAM enzymes ZNF395 55893 genome.wustl.edu 37 8 28217123 28217123 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018660.2 -1 validated p.I153 0.453 56 0% 55 36.4% 2 0% - - - NULL FBXO16 157574 genome.wustl.edu 37 8 28314306 28314306 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_172366.2 -1 reviewed p.E162* 1.000 236 0% 253 24.9% 3 0% - - - superfamily_SSF81383 INTS9 55756 genome.wustl.edu 37 8 28704310 28704310 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018250.3 -1 reviewed p.S72L 1.000 215 0% 240 21.2% 3 33.3% benign(0.017) tolerated(0.12) neutral(0.261) NULL PPP2CB 5516 genome.wustl.edu 37 8 30643751 30643751 + Nonstop_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001009552.1 -1 reviewed p.*310Y 0.998 13 0% 15 40% 74 55.4% - - - NULL TEX15 56154 genome.wustl.edu 37 8 30694711 30694711 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031271.3 -1 validated p.S2647Y 0.996 225 0% 219 26.9% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL TEX15 56154 genome.wustl.edu 37 8 30694818 30694818 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031271.3 -1 validated p.Y2611 0.000 222 0% 216 20.4% 0 - - - - NULL TEX15 56154 genome.wustl.edu 37 8 30700118 30700118 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031271.3 -1 validated p.L2139R 0.261 163 0% 160 23.1% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TEX15 56154 genome.wustl.edu 37 8 30700559 30700559 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031271.3 -1 validated p.I1992R 0.998 132 0% 157 24.2% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL TEX15 56154 genome.wustl.edu 37 8 30701727 30701727 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031271.3 -1 validated p.E1603* 0.026 188 0% 194 22.2% 0 - - - - NULL TEX15 56154 genome.wustl.edu 37 8 30702230 30702230 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031271.3 -1 validated p.S1435F 0.000 147 0% 132 38.6% 0 - possibly_damaging(0.706) tolerated(0.06) deleterious(0.577) NULL TEX15 56154 genome.wustl.edu 37 8 30702827 30702827 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031271.3 -1 validated p.S1236Y 0.023 93 0% 109 29.4% 0 - benign(0.002) tolerated(0.58) neutral(0.005) NULL TEX15 56154 genome.wustl.edu 37 8 30703414 30703414 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031271.3 -1 validated p.F1040L 0.636 279 0% 244 29.5% 0 - possibly_damaging(0.888) deleterious(0) deleterious(0.792) NULL WRN 7486 genome.wustl.edu 37 8 30938507 30938507 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000553.4 +1 reviewed p.D322Y 0.021 420 0% 265 23.4% 0 - probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL LOC100289349 100289349 genome.wustl.edu 37 8 33380783 33380783 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002342830.1 +1 model p.W34R 0.095 80 0% 73 20.5% 0 - - - - HMMPfam_Thymosin,HMMSmart_SM00152 ENSG00000188512 0 genome.wustl.edu 37 8 33827291 33827291 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000341045 -1 known p.L36I 1.000 79 0% 106 33% 0 - - - - HMMPfam_Cytochrom_C,superfamily_Cytochrome_c KCNU1 157855 genome.wustl.edu 37 8 36790511 36790511 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001031836.2 +1 validated p.R1002Q 0.934 18 0% 18 38.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL WHSC1L1 54904 genome.wustl.edu 37 8 38146081 38146081 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023034.1 -1 reviewed p.R1142I 1.000 101 0% 152 24.3% 3 66.6% possibly_damaging(0.822) deleterious(0) deleterious(0.756) HMMPfam_SET,HMMSmart_SM00570,superfamily_SET domain LETM2 137994 genome.wustl.edu 37 8 38264492 38264492 + Nonsense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144652.1 +1 provisional p.L321* 0.004 110 0% 96 35.4% 8 37.5% - - - NULL FGFR1 2260 genome.wustl.edu 37 8 38279438 38279438 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023110.2 -1 reviewed p.D320N 1.000 95 0% 65 23.1% 12 33.3% benign(0.004) tolerated(0.37) neutral(0.019) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ADAM9 8754 genome.wustl.edu 37 8 38880697 38880697 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003816.2 +1 reviewed p.R256Q 1.000 213 0% 186 25.8% 5 20% possibly_damaging(0.551) deleterious(0.04) deleterious(0.536) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM2 2515 genome.wustl.edu 37 8 39626991 39626991 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001464.3 -1 reviewed p.D378Y 0.677 94 0% 89 23.6% 0 - possibly_damaging(0.911) deleterious(0.02) deleterious(0.746) NULL SFRP1 6422 genome.wustl.edu 37 8 41122988 41122988 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003012.4 -1 reviewed p.E215* 1.000 79 0% 90 14.4% 0 - - - - superfamily_TIMP_like,HMMPfam_NTR,HMMSmart_C345C SFRP1 6422 genome.wustl.edu 37 8 41160986 41160986 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003012.4 -1 reviewed p.E206K 1.000 31 0% 35 34.3% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) superfamily_TIMP_like,HMMPfam_NTR,HMMSmart_C345C ANK1 286 genome.wustl.edu 37 8 41566326 41566326 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142446.1 -1 reviewed p.S689 0.390 61 0% 76 28.9% 0 - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANK1 286 genome.wustl.edu 37 8 41753901 41753901 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142446.1 -1 reviewed p.R33I 1.000 27 0% 18 22.2% 0 - probably_damaging(0.991) tolerated(0.19) deleterious(0.493) superfamily_ANK KAT6A 7994 genome.wustl.edu 37 8 41789756 41789756 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099412.1 -1 validated p.K1994 1.000 129 0% 124 29.8% 13 76.9% - - - NULL KAT6A 7994 genome.wustl.edu 37 8 41790368 41790368 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099412.1 -1 validated p.G1790 0.950 184 0% 174 29.9% 10 40% - - - NULL KAT6A 7994 genome.wustl.edu 37 8 41791296 41791296 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099412.1 -1 validated p.S1481N 1.000 180 0% 185 21.1% 19 21% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL KAT6A 7994 genome.wustl.edu 37 8 41798752 41798752 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099412.1 -1 validated p.D883Y 0.999 206 0.5% 196 28.6% 0 - unknown(0) deleterious(0) - NULL KAT6A 7994 genome.wustl.edu 37 8 41801350 41801350 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099412.1 -1 validated p.K715T 0.993 259 0% 234 23.5% 1 0% unknown(0) tolerated(0.32) - HMMPfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase POLB 5423 genome.wustl.edu 37 8 42213036 42213036 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002690.1 +1 provisional p.L125I 1.000 113 0% 139 12.9% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_POLXc,HMMPfam_DNA_pol_lambd_f,superfamily_DNA_pol_lambd_fingers_domain VDAC3 7419 genome.wustl.edu 37 8 42257213 42257213 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135694.1 +1 validated p.P106 0.997 69 0% 53 28.3% 38 42.1% - - - HMMPfam_Porin_3 SLC20A2 6575 genome.wustl.edu 37 8 42323432 42323432 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006749.3 -1 provisional p.S98F 1.000 111 0% 91 11% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PHO4 CHRNB3 1142 genome.wustl.edu 37 8 42586826 42586826 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000749.3 +1 validated p.E126K 1.000 55 0% 76 44.7% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like CHRNA6 8973 genome.wustl.edu 37 8 42611545 42611545 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004198.2 -1 provisional p.S266L 1.000 172 0% 169 27.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore HOOK3 84376 genome.wustl.edu 37 8 42865471 42865471 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032410.3 +1 validated p.E588* 1.000 29 0% 26 30.8% 0 - - - - HMMPfam_HOOK HOOK3 84376 genome.wustl.edu 37 8 42868201 42868201 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032410.3 +1 validated p.R616H 1.000 58 0% 102 27.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_HOOK HGSNAT 138050 genome.wustl.edu 37 8 43027473 43027473 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152419.2 +1 reviewed p.V255A 1.000 91 0% 91 22% 2 50% possibly_damaging(0.799) deleterious(0.02) deleterious(0.684) HMMPfam_DUF2261 POTEA 340441 genome.wustl.edu 37 8 43197366 43197366 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005365.2 +1 validated p.D419Y 0.972 185 0% 189 27.5% 0 - - - - NULL ENSG00000215179 0 genome.wustl.edu 37 8 47885794 47885794 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000399732 -1 known p.D147N 1.000 77 0% 69 43.5% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KIAA0146 23514 genome.wustl.edu 37 8 48508400 48508400 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080394.1 +1 predicted p.S375 0.955 120 0% 113 32.7% 5 40% - - - NULL PRKDC 5591 genome.wustl.edu 37 8 48706963 48706963 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000314191 -1 known p.E3519* 1.000 64 0% 88 36.4% 6 0% - - - NULL PRKDC 5591 genome.wustl.edu 37 8 48752648 48752648 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001081640.1 -1 validated p.S2461L 0.722 21 0% 27 33.3% 0 - - - - NULL PRKDC 5591 genome.wustl.edu 37 8 48817474 48817474 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000314191 -1 known p.K999N 1.000 216 0% 188 32.4% 0 - probably_damaging(0.996) tolerated(0.05) deleterious(0.807) superfamily_ARM repeat EFCAB1 79645 genome.wustl.edu 37 8 49643199 49643199 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024593.3 -1 validated p.F73L 1.000 13 0% 17 35.3% 0 - possibly_damaging(0.728) deleterious(0.01) deleterious(0.671) HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 SNAI2 6591 genome.wustl.edu 37 8 49832997 49832997 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003068.3 -1 reviewed p.I28S 1.000 143 0% 86 37.2% 6 0% benign(0) tolerated(0.48) neutral(0.011) NULL C8orf22 492307 genome.wustl.edu 37 8 49986636 49986636 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001007176.3 +1 validated p.V25A 0.045 225 0% 112 32.1% 0 - benign(0.055) tolerated(1) neutral(0.004) NULL PXDNL 137902 genome.wustl.edu 37 8 52366144 52366144 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144651.4 -1 validated p.R395Q 0.015 107 0% 115 37.4% 0 - benign(0.003) tolerated(0.59) neutral(0.004) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PXDNL 137902 genome.wustl.edu 37 8 52384855 52384855 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144651.4 -1 validated p.R235Q 0.827 211 0% 202 26.7% 0 - possibly_damaging(0.827) tolerated(0.66) neutral(0.317) HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_L domain-like ST18 9705 genome.wustl.edu 37 8 53062489 53062489 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014682.2 -1 validated p.K619E 1.000 265 0% 241 32% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_MYT1 ST18 9705 genome.wustl.edu 37 8 53071652 53071652 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014682.2 -1 validated p.P538T 1.000 93 0% 72 22.2% 0 - possibly_damaging(0.747) tolerated(0.08) deleterious(0.574) HMMPfam_MYT1 ST18 9705 genome.wustl.edu 37 8 53084363 53084363 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014682.2 -1 validated p.F353C 0.997 156 0% 114 28.1% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL RB1CC1 9821 genome.wustl.edu 37 8 53586653 53586653 + Nonsense_Mutation SNP C C A rs140425456 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014781.4 -1 reviewed p.E252* 0.023 382 0% 286 28.7% 0 - - - - NULL RP1 6101 genome.wustl.edu 37 8 55538370 55538370 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006269.1 +1 reviewed p.D643V 0.941 151 0% 92 32.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RP1 6101 genome.wustl.edu 37 8 55541000 55541000 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006269.1 +1 reviewed p.M1520L 0.002 227 0% 99 21.2% 0 - benign(0) deleterious(0) neutral(0.445) NULL RP1 6101 genome.wustl.edu 37 8 55542599 55542599 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006269.1 +1 reviewed p.D2053Y 0.000 282 0% 168 27.4% 1 0% possibly_damaging(0.946) deleterious(0) deleterious(0.835) NULL FAM110B 90362 genome.wustl.edu 37 8 59059594 59059594 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_147189.2 +1 validated p.R269* 1.000 153 0% 163 14.7% 0 - - - - NULL UBXN2B 137886 genome.wustl.edu 37 8 59352199 59352199 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001077619.1 +1 validated p.P181S 1.000 346 0% 271 29.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SEP,HMMSmart_SEP,superfamily_SEP CYP7A1 1581 genome.wustl.edu 37 8 59404246 59404246 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000780.3 -1 reviewed p.M435V 1.000 153 0% 170 14.1% 0 - probably_damaging(0.976) deleterious(0.01) deleterious(0.824) HMMPfam_p450,superfamily_Cytochrome_P450 NSMAF 8439 genome.wustl.edu 37 8 59514643 59514643 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001144772.1 -1 reviewed p.N398H 1.000 247 0% 182 21.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Beach,superfamily_BEACH domain TOX 9760 genome.wustl.edu 37 8 59720795 59720795 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014729.2 -1 reviewed p.I476L 1.000 162 0% 149 28.9% 14 0% possibly_damaging(0.63) tolerated(0.14) deleterious(0.470) NULL TOX 9760 genome.wustl.edu 37 8 59750747 59750747 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014729.2 -1 reviewed p.R273C 1.000 259 0% 309 23.6% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box CHD7 55636 genome.wustl.edu 37 8 61728999 61728999 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017780.2 +1 reviewed p.R851I 1.000 62 0% 39 20.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Chromo,HMMSmart_SM00298,superfamily_Chromo domain-like CLVS1 157807 genome.wustl.edu 37 8 62212786 62212786 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173519.2 +1 validated p.D134Y 1.000 189 0% 208 19.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CRAL_TRIO,HMMSmart_SM00516,superfamily_CRAL/TRIO domain CLVS1 157807 genome.wustl.edu 37 8 62289216 62289216 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173519.2 +1 validated p.I170L 1.000 137 0% 151 28.5% 0 - benign(0.005) tolerated(0.48) neutral(0.011) HMMPfam_CRAL_TRIO,HMMSmart_SM00516,superfamily_CRAL/TRIO domain CLVS1 157807 genome.wustl.edu 37 8 62370995 62370995 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173519.2 +1 validated p.D291N 1.000 121 0% 128 28.9% 0 - probably_damaging(0.996) tolerated(0.06) deleterious(0.784) superfamily_CRAL/TRIO domain TTPA 7274 genome.wustl.edu 37 8 63978614 63978614 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000370.3 -1 reviewed p.R134Q 1.000 117 0% 85 30.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_CRAL_TRIO,HMMSmart_SEC14,superfamily_CRAL_TRIO_C TTPA 7274 genome.wustl.edu 37 8 63985567 63985567 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000370.3 -1 reviewed p.L95 0.882 167 0.6% 186 26.9% 0 - - - - HMMPfam_CRAL_TRIO,HMMSmart_SEC14,superfamily_CRAL_TRIO_C MTFR1 9650 genome.wustl.edu 37 8 66619478 66619478 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014637.3 +1 reviewed p.R251W 1.000 174 0% 113 28.3% 7 14.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF729 TRIM55 84675 genome.wustl.edu 37 8 67062673 67062673 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_184085.1 +1 reviewed p.K319N 1.000 246 0% 191 27.2% 0 - benign(0.104) deleterious(0.01) neutral(0.414) NULL SGK3 23678 genome.wustl.edu 37 8 67759560 67759560 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001033578.1 +1 reviewed p.R403* 1.000 243 0% 238 28.2% 1 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PPP1R42 286187 genome.wustl.edu 37 8 67922994 67922994 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013626.2 -1 provisional p.L170I 1.000 86 0% 84 10.7% 0 - probably_damaging(0.969) deleterious(0.01) deleterious(0.817) superfamily_SSF52058 ARFGEF1 10565 genome.wustl.edu 37 8 68111197 68111197 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006421.3 -1 reviewed p.E1841G 1.000 227 0% 146 28.8% 10 50% benign(0.001) deleterious(0.02) neutral(0.383) NULL ARFGEF1 10565 genome.wustl.edu 37 8 68139733 68139733 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006421.3 -1 reviewed p.R1231I 1.000 287 0% 199 14.1% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_DUF1981,superfamily_ARM-type_fold ARFGEF1 10565 genome.wustl.edu 37 8 68170044 68170044 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006421.3 -1 reviewed p.L817I 1.000 281 0% 248 21.8% 0 - benign(0.175) tolerated(0.4) neutral(0.032) HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7,superfamily_ARM-type_fold PREX2 80243 genome.wustl.edu 37 8 68930093 68930093 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024870.2 +1 validated p.R52G 1.000 90 0% 56 25% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) PREX2 80243 genome.wustl.edu 37 8 68934337 68934337 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024870.2 +1 validated p.E135* 1.000 131 0% 107 27.1% 1 0% - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) PREX2 80243 genome.wustl.edu 37 8 69033159 69033159 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024870.2 +1 validated p.F1200S 1.000 124 0% 101 29.7% 3 100% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL SULF1 23213 genome.wustl.edu 37 8 70476349 70476349 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001128204.1 +1 validated p.L47I 0.998 260 0% 262 30.9% 12 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core PRDM14 63978 genome.wustl.edu 37 8 70971059 70971059 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024504.2 -1 validated p.R401I 0.997 109 0% 85 24.7% 0 - possibly_damaging(0.857) deleterious(0.02) deleterious(0.714) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2 PRDM14 63978 genome.wustl.edu 37 8 70980717 70980717 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024504.2 -1 validated p.E251* 1.000 78 0% 54 27.8% 0 - - - - HMMSmart_SET NCOA2 10499 genome.wustl.edu 37 8 71039222 71039222 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006540.2 -1 validated p.R1248* 0.999 31 0% 32 46.9% 1 0% - - - NULL NCOA2 10499 genome.wustl.edu 37 8 71068244 71068244 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006540.2 -1 validated p.T786A 1.000 122 0% 75 30.7% 0 - benign(0) tolerated(0.67) neutral(0.003) NULL LACTB2 51110 genome.wustl.edu 37 8 71553205 71553205 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016027.2 -1 validated p.L225F 1.000 102 0% 63 23.8% 3 0% benign(0.029) tolerated(0.13) neutral(0.254) superfamily_SSF56281 TRPA1 8989 genome.wustl.edu 37 8 72945968 72945968 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007332.2 -1 reviewed p.L927M 0.001 155 0% 162 38.3% 0 - possibly_damaging(0.901) tolerated(0.19) neutral(0.406) HMMPfam_Ion_trans TRPA1 8989 genome.wustl.edu 37 8 72970031 72970031 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007332.2 -1 reviewed p.I338 0.105 138 0% 124 22.6% 0 - - - - HMMPfam_Ank,superfamily_Ankyrin repeat KCNB2 9312 genome.wustl.edu 37 8 73480362 73480362 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004770.2 +1 reviewed p.I131 1.000 448 0% 416 20.7% 0 - - - - HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold KCNB2 9312 genome.wustl.edu 37 8 73848928 73848928 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004770.2 +1 reviewed p.N446 0.602 254 0% 198 26.3% 0 - - - - NULL STAU2 27067 genome.wustl.edu 37 8 74464404 74464404 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014393.2 -1 reviewed p.S426L 0.767 321 0% 242 24.8% 3 66.6% benign(0.032) tolerated(0.09) neutral(0.298) NULL UBE2W 55284 genome.wustl.edu 37 8 74717942 74717942 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001481.1 -1 validated p.S140Y 1.000 43 0% 27 29.6% 0 - benign(0.186) deleterious(0.04) neutral(0.366) HMMPfam_UQ_con,HMMSmart_SM00212 JPH1 56704 genome.wustl.edu 37 8 75227565 75227565 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020647.2 -1 reviewed p.R224C 0.910 47 0% 39 17.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZFHX4 79776 genome.wustl.edu 37 8 77761247 77761247 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000399468 +1 known p.E1176 0.989 21 0% 27 44.4% 0 - - - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77763860 77763860 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024721.4 +1 validated p.K1523T 1.000 269 0% 229 36.7% 0 - benign(0.076) - - HMMSmart_SM00451,superfamily_C2H2 and C2HC zinc fingers ZFHX4 79776 genome.wustl.edu 37 8 77764742 77764742 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024721.4 +1 validated p.S1817Y 0.366 111 0% 96 24% 0 - benign(0.017) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77765615 77765615 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024721.4 +1 validated p.S2108Y 1.000 234 0% 140 17.1% 0 - probably_damaging(0.959) - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like ZFHX4 79776 genome.wustl.edu 37 8 77767933 77767933 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024721.4 +1 validated p.R2881W 0.980 97 0% 68 25% 0 - probably_damaging(1) - - superfamily_Homeodomain-like ZFHX4 79776 genome.wustl.edu 37 8 77776709 77776709 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024721.4 +1 validated p.D3542Y 1.000 145 0% 120 28.3% 0 - probably_damaging(1) - - NULL PEX2 5828 genome.wustl.edu 37 8 77896041 77896041 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000318.2 -1 reviewed p.R125Q 0.998 268 0% 253 16.6% 22 31.8% possibly_damaging(0.788) tolerated(0.61) neutral(0.299) HMMPfam_Pex2_Pex12 STMN2 11075 genome.wustl.edu 37 8 80567253 80567253 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007029.2 +1 provisional p.R146C 1.000 212 0% 173 17.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Stathmin,superfamily_Stathmin ZBTB10 65986 genome.wustl.edu 37 8 81399981 81399981 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105539.1 +1 validated p.V312 1.000 67 0% 58 36.2% 0 - - - - NULL ZBTB10 65986 genome.wustl.edu 37 8 81412507 81412507 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105539.1 +1 validated p.F584C 1.000 35 0% 61 52.5% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL PMP2 5375 genome.wustl.edu 37 8 82357140 82357140 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002677.3 -1 validated p.R53Q 1.000 145 0% 94 33% 0 - probably_damaging(0.98) tolerated(0.07) deleterious(0.743) HMMPfam_Lipocalin,superfamily_Lipocalins RALYL 138046 genome.wustl.edu 37 8 85799868 85799868 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001100391.1 +1 validated p.L252I 0.962 268 0.4% 253 35.6% 0 - benign(0) tolerated(0.36) neutral(0.020) NULL RALYL 138046 genome.wustl.edu 37 8 85799948 85799948 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001100391.1 +1 validated p.A278 0.013 325 0% 323 28.2% 0 - - - - NULL E2F5 1875 genome.wustl.edu 37 8 86121394 86121394 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001951.3 +1 reviewed p.K211N 1.000 157 0% 131 27.5% 3 66.6% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL CA1 759 genome.wustl.edu 37 8 86245846 86245846 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001128829.2 -1 reviewed p.H120N 1.000 166 0% 122 26.2% 0 - probably_damaging(0.968) deleterious(0) deleterious(0.855) HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd,PatternScan_ALPHA_CA_1 WWP1 11059 genome.wustl.edu 37 8 87460401 87460401 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007013.3 +1 validated p.D675N 1.000 202 0% 173 29.5% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain CNGB3 54714 genome.wustl.edu 37 8 87591451 87591451 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019098.4 -1 reviewed p.R604Q 1.000 344 0% 353 31.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_cNMP_binding,HMMSmart_SM00100,PatternScan_CNMP_BINDING_2,superfamily_cAMP-binding domain-like CNBD1 168975 genome.wustl.edu 37 8 88365863 88365863 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173538.2 +1 provisional e10-1 1.000 132 0% 63 23.8% 0 - - - - - DCAF4L2 138009 genome.wustl.edu 37 8 88885279 88885279 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152418.3 -1 validated p.Q307 0.997 140 0% 101 17.8% 0 - - - - HMMSmart_WD40,superfamily_WD40_like MMP16 4325 genome.wustl.edu 37 8 89081622 89081622 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022564.3 -1 reviewed p.E451* 0.063 79 0% 64 25% 0 - - - - NULL RIPK2 8767 genome.wustl.edu 37 8 90777608 90777608 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003821.5 +1 reviewed p.R123C 1.000 303 0.3% 276 33.3% 36 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DECR1 1666 genome.wustl.edu 37 8 91029411 91029411 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001359.1 +1 reviewed p.F43L 1.000 349 0% 192 28.6% 16 50% benign(0.351) deleterious(0.02) deleterious(0.494) NULL DECR1 1666 genome.wustl.edu 37 8 91064096 91064096 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001359.1 +1 reviewed p.E327* 1.000 293 0% 304 25.3% 103 17.4% - - - NULL CALB1 793 genome.wustl.edu 37 8 91072441 91072441 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004929.2 -1 reviewed p.R249Q 1.000 447 0% 364 24.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TMEM67 91147 genome.wustl.edu 37 8 94805468 94805468 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153704.5 +1 reviewed p.L540I 1.000 130 0% 131 22.1% 3 66.6% possibly_damaging(0.866) tolerated(0.27) neutral(0.369) HMMPfam_Meckelin CDH17 1015 genome.wustl.edu 37 8 95172211 95172211 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001144663.1 -1 reviewed p.V513 0.735 285 0% 240 25.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH17 1015 genome.wustl.edu 37 8 95183119 95183119 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001144663.1 -1 reviewed p.Y293C 0.999 223 0% 210 32.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like KIAA1429 25962 genome.wustl.edu 37 8 95531223 95531223 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015496.3 -1 validated p.E835* 1.000 341 0% 260 32.3% 0 - - - - NULL KIAA1429 25962 genome.wustl.edu 37 8 95541372 95541372 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015496.3 -1 validated p.R269Q 0.448 116 0% 103 40.8% 1 100% benign(0.023) tolerated(0.37) neutral(0.020) NULL ESRP1 54845 genome.wustl.edu 37 8 95674532 95674532 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017697.3 +1 validated p.R175* 0.049 34 0% 27 14.8% 5 20% - - - NULL ESRP1 54845 genome.wustl.edu 37 8 95709137 95709137 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017697.3 +1 validated p.E677* 1.000 35 0% 29 17.2% 6 16.6% - - - NULL INTS8 55656 genome.wustl.edu 37 8 95853794 95853794 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017864.2 +1 provisional p.E365* 1.000 392 0% 415 28.2% 2 0% - - - NULL INTS8 55656 genome.wustl.edu 37 8 95885606 95885606 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017864.2 +1 provisional p.T846 1.000 515 0% 528 28.2% 14 71.4% - - - NULL CCNE2 9134 genome.wustl.edu 37 8 95900249 95900249 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_057749.1 -1 reviewed p.F169C 1.000 81 0% 66 31.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00385,HMMPfam_Cyclin_N,PatternScan_CYCLINS,superfamily_Cyclin-like PLEKHF2 79666 genome.wustl.edu 37 8 96166863 96166863 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024613.3 +1 validated p.S197 0.965 146 0% 193 26.9% 4 50% - - - HMMPfam_FYVE,HMMSmart_FYVE,superfamily_FYVE_PHD_ZnF C8orf37 157657 genome.wustl.edu 37 8 96264437 96264437 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_177965.2 -1 predicted p.S150L 0.981 215 0% 264 22% 1 0% probably_damaging(0.998) tolerated(0.23) deleterious(0.516) NULL TSPYL5 85453 genome.wustl.edu 37 8 98289621 98289621 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033512.2 -1 validated p.E151G 0.053 54 0% 86 20.9% 0 - benign(0) tolerated(0.12) neutral(0.261) NULL MATN2 4147 genome.wustl.edu 37 8 98943199 98943199 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002380.3 +1 reviewed p.K54T 1.000 71 0% 45 17.8% 1 100% possibly_damaging(0.925) tolerated(0.14) deleterious(0.623) superfamily_vWA-like MATN2 4147 genome.wustl.edu 37 8 98943356 98943356 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002380.3 +1 reviewed p.K106N 1.000 78 0% 53 30.2% 0 - probably_damaging(0.996) tolerated(0.11) deleterious(0.733) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like MATN2 4147 genome.wustl.edu 37 8 98943544 98943544 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002380.3 +1 reviewed p.T169I 1.000 55 0% 46 21.7% 1 0% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like OSR2 116039 genome.wustl.edu 37 8 99961141 99961141 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000457907 +1 known p.K108N 1.000 38 0% 39 35.9% 1 0% possibly_damaging(0.605) deleterious(0) deleterious(0.654) NULL VPS13B 157680 genome.wustl.edu 37 8 100147278 100147278 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017890.3 +1 reviewed p.Q446 1.000 209 0% 182 28.6% 0 - - - - NULL VPS13B 157680 genome.wustl.edu 37 8 100168838 100168838 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017890.3 +1 reviewed p.R692Q 1.000 205 0% 230 22.2% 3 33.3% benign(0.001) tolerated(0.88) - NULL VPS13B 157680 genome.wustl.edu 37 8 100523719 100523719 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017890.3 +1 reviewed p.E1563* 1.000 94 0% 81 16% 0 - - - - NULL VPS13B 157680 genome.wustl.edu 37 8 100866032 100866032 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017890.3 +1 reviewed p.Y3497C 1.000 351 0% 297 30.6% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL FBXO43 286151 genome.wustl.edu 37 8 101153676 101153676 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001029860.2 -1 validated p.S269I 1.000 73 0% 60 21.7% 1 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL FBXO43 286151 genome.wustl.edu 37 8 101157338 101157338 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001029860.2 -1 validated p.R9I 0.035 35 0% 27 37% 0 - benign(0.076) - - NULL RNF19A 25897 genome.wustl.edu 37 8 101271192 101271192 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015435.3 -1 reviewed p.T703 0.998 470 0% 452 30.5% 25 32% - - - NULL SNX31 169166 genome.wustl.edu 37 8 101625266 101625266 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152628.3 -1 validated p.F160 0.982 134 0% 104 33.7% 0 - - - - NULL SNX31 169166 genome.wustl.edu 37 8 101629858 101629858 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152628.3 -1 validated p.R141I 1.000 167 0% 142 22.5% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL GRHL2 79977 genome.wustl.edu 37 8 102676699 102676699 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024915.3 +1 reviewed p.G572 0.998 160 0% 114 28.1% 5 60% - - - NULL RRM2B 50484 genome.wustl.edu 37 8 103220448 103220448 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015713.4 -1 reviewed p.F323L 1.000 176 0% 167 21% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL UBR5 51366 genome.wustl.edu 37 8 103326050 103326050 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015902.4 -1 reviewed p.K663N 1.000 193 0% 153 25.5% 0 - possibly_damaging(0.722) deleterious(0.01) deleterious(0.667) NULL AZIN1 51582 genome.wustl.edu 37 8 103841572 103841572 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015878.4 -1 reviewed p.S388Y 0.991 305 0% 271 33.6% 18 50% benign(0.397) deleterious(0) deleterious(0.572) HMMPfam_Orn_DAP_Arg_deC,superfamily_Racem_decarbox_C ATP6V1C1 528 genome.wustl.edu 37 8 104065051 104065051 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001695.4 +1 reviewed e5+1 1.000 175 0% 118 28% 0 - - - - - FZD6 8323 genome.wustl.edu 37 8 104337567 104337567 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003506.3 +1 reviewed p.K411N 1.000 436 0% 425 28.7% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Frizzled DCAF13 25879 genome.wustl.edu 37 8 104439410 104439410 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015420.6 +1 validated p.R337I 1.000 92 0% 97 27.8% 20 20% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_WD40,superfamily_WD40_like DCAF13 25879 genome.wustl.edu 37 8 104439415 104439415 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015420.6 +1 validated p.N339D 0.956 96 0% 100 32% 20 55% benign(0) tolerated(0.44) neutral(0.013) HMMSmart_WD40,superfamily_WD40_like RIMS2 9699 genome.wustl.edu 37 8 104831791 104831791 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014677.3 +1 validated p.G19V 1.000 302 0% 173 26.6% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RIMS2 9699 genome.wustl.edu 37 8 104973333 104973333 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001100117.1 +1 validated p.D914E 0.998 337 0% 191 22.5% 0 - probably_damaging(0.992) tolerated(0.73) neutral(0.449) NULL LRP12 29967 genome.wustl.edu 37 8 105509965 105509965 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013437.4 -1 reviewed p.S272Y 1.000 151 0% 106 13.2% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain ZFPM2 23414 genome.wustl.edu 37 8 106813606 106813606 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012082.3 +1 reviewed p.A432 0.067 164 0% 164 27.4% 0 - - - - NULL OXR1 55074 genome.wustl.edu 37 8 107695484 107695484 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018002.2 +1 validated p.E121K 1.000 168 0% 158 20.3% 2 0% probably_damaging(0.974) tolerated(0.1) deleterious(0.702) HMMSmart_SM00257,HMMPfam_LysM,superfamily_LysM domain RSPO2 340419 genome.wustl.edu 37 8 109094818 109094818 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178565.4 -1 validated p.D17N 1.000 53 0% 54 22.2% 0 - unknown(0) deleterious(0) - superfamily_Growth factor receptor domain PKHD1L1 93035 genome.wustl.edu 37 8 110451283 110451283 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_177531.4 +1 validated p.I1306 0.005 261 0% 191 21.5% 0 - - - - HMMSmart_SM00429,superfamily_E set domains PKHD1L1 93035 genome.wustl.edu 37 8 110527528 110527528 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_177531.4 +1 validated p.Y3895H 0.000 48 0% 47 10.6% 0 - benign(0) tolerated(0.58) neutral(0.005) NULL SYBU 55638 genome.wustl.edu 37 8 110587998 110587998 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099744.1 -1 validated p.E377K 1.000 149 0% 147 27.2% 4 50% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CSMD3 114788 genome.wustl.edu 37 8 113277652 113277652 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198123.1 -1 validated p.P3226T 1.000 336 0% 279 28.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113318305 113318305 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198123.1 -1 validated p.E2668* 1.000 272 0% 161 26.7% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113318415 113318415 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198123.1 -1 validated p.S2631F 1.000 164 0% 101 16.8% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113353884 113353884 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198123.1 -1 validated p.T2158 0.984 87 0% 67 37.3% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113599317 113599317 + Nonsense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198123.1 -1 validated p.L1288* 1.000 157 0% 113 26.5% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113668437 113668437 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198123.1 -1 validated p.L984I 1.000 127 0% 82 18.3% 0 - benign(0.124) tolerated(0.07) neutral(0.329) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113694724 113694724 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198123.1 -1 validated p.C875F 1.000 320 0.3% 216 31.5% 0 - benign(0.001) deleterious(0) neutral(0.445) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113812499 113812499 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198123.1 -1 validated p.T622A 0.997 165 0% 175 21.7% 0 - unknown(0) tolerated(0.14) - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113966930 113966930 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198123.1 -1 validated p.S468I 1.000 61 0% 31 41.9% 0 - unknown(0) deleterious(0.01) - NULL EIF3H 8667 genome.wustl.edu 37 8 117671056 117671056 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003756.2 -1 validated p.I151M 1.000 221 0% 257 27.6% 141 22.6% probably_damaging(0.97) deleterious(0) deleterious(0.857) HMMSmart_SM00232 SLC30A8 169026 genome.wustl.edu 37 8 118174074 118174074 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173851.2 +1 reviewed p.D224N 1.000 126 0% 100 21% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cation_efflux EXT1 2131 genome.wustl.edu 37 8 118834745 118834745 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000127.2 -1 reviewed p.S459* 1.000 221 0% 227 26% 5 20% - - - NULL TNFRSF11B 4982 genome.wustl.edu 37 8 119938903 119938903 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002546.3 -1 reviewed p.T216M 0.918 149 0% 97 33% 0 - possibly_damaging(0.944) deleterious(0.02) deleterious(0.772) superfamily_DEATH domain COLEC10 10584 genome.wustl.edu 37 8 120118073 120118073 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006438.3 +1 reviewed p.F159L 1.000 134 0% 142 30.3% 0 - benign(0.008) tolerated(0.08) neutral(0.300) HMMSmart_CLECT,superfamily_C-type_lectin_fold ENPP2 5168 genome.wustl.edu 37 8 120608142 120608142 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006209.3 -1 reviewed p.R358I 1.000 149 0% 117 34.2% 0 - possibly_damaging(0.933) deleterious(0) deleterious(0.824) HMMPfam_Phosphodiest,superfamily_Alkaline phosphatase-like ENPP2 5168 genome.wustl.edu 37 8 120612951 120612951 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006209.3 -1 reviewed p.F313L 0.890 169 0% 139 16.5% 0 - benign(0.001) tolerated(0.74) neutral(0.002) HMMPfam_Phosphodiest,superfamily_Alkaline phosphatase-like ENPP2 5168 genome.wustl.edu 37 8 120631537 120631537 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006209.3 -1 reviewed p.S142 0.318 143 0% 87 37.9% 0 - - - - HMMPfam_Somatomedin_B,HMMSmart_SM00201 ENPP2 5168 genome.wustl.edu 37 8 120633724 120633724 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006209.3 -1 reviewed p.E110* 1.000 172 0% 133 20.3% 0 - - - - HMMPfam_Somatomedin_B,HMMSmart_SM00201,superfamily_Somatomedin B domain TAF2 6873 genome.wustl.edu 37 8 120831664 120831664 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003184.3 -1 reviewed p.R74Q 1.000 386 0% 390 25.4% 0 - probably_damaging(0.996) tolerated(0.06) deleterious(0.784) HMMPfam_Peptidase_M1,superfamily_SSF63737 TAF2 6873 genome.wustl.edu 37 8 120844763 120844763 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003184.3 -1 reviewed p.K14N 1.000 120 0% 116 31.9% 0 - unknown(0) deleterious(0) - superfamily_SSF63737 HAS2 3037 genome.wustl.edu 37 8 122641563 122641563 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005328.2 -1 reviewed p.F6L 1.000 165 0% 166 31.9% 0 - benign(0) tolerated(0.38) neutral(0.018) NULL ATAD2 29028 genome.wustl.edu 37 8 124346503 124346503 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014109.3 -1 reviewed p.E1091* 1.000 89 0% 125 28.8% 0 - - - - HMMSmart_SM00297,superfamily_Bromodomain ATAD2 29028 genome.wustl.edu 37 8 124357185 124357185 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014109.3 -1 reviewed p.S886* 0.997 224 0% 170 34.1% 3 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases MIR548D1 693130 genome.wustl.edu 37 8 124360274 124360274 + RNA SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000384971 -1 known NULL 0.020 142 0% 112 30.4% 0 - - - - - ZNF572 137209 genome.wustl.edu 37 8 125988742 125988742 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152412.2 +1 validated p.D78Y 0.000 231 0% 225 39.6% 0 - possibly_damaging(0.677) deleterious(0.02) deleterious(0.624) NULL KIAA0196 9897 genome.wustl.edu 37 8 126061289 126061289 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014846.3 -1 reviewed p.Y780D 1.000 174 0% 87 32.2% 7 28.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Strumpellin KIAA0196 9897 genome.wustl.edu 37 8 126061296 126061296 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014846.3 -1 reviewed p.I777 0.986 180 0% 84 20.2% 7 71.4% - - - HMMPfam_Strumpellin MYC 4609 genome.wustl.edu 37 8 128752732 128752732 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002467.4 +1 reviewed p.S298Y 0.134 82 0% 79 10.1% 41 12.1% benign(0.014) tolerated(0.07) neutral(0.320) HMMPfam_Myc_N GSDMC 56169 genome.wustl.edu 37 8 130762312 130762312 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031415.2 -1 validated p.K379N 0.011 101 0% 92 29.3% 0 - benign(0.045) tolerated(0.54) neutral(0.010) HMMPfam_Gasdermin GSDMC 56169 genome.wustl.edu 37 8 130765065 130765065 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031415.2 -1 validated p.E241D 0.003 200 0% 182 22% 0 - benign(0) tolerated(0.63) neutral(0.004) HMMPfam_Gasdermin FAM49B 51571 genome.wustl.edu 37 8 130883720 130883720 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016623.3 -1 predicted p.E32D 1.000 228 0% 180 29.4% 6 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DUF1394 ASAP1 50807 genome.wustl.edu 37 8 131130828 131130828 + Missense_Mutation SNP C C G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018482.2 -1 validated p.L567F 1.000 158 0% 119 23.5% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ANK EFR3A 23167 genome.wustl.edu 37 8 132966204 132966204 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015137.3 +1 validated p.E210* 0.991 37 0% 16 31.2% 1 0% - - - superfamily_ARM repeat OC90 729330 genome.wustl.edu 37 8 133051317 133051317 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080399.2 -1 validated p.E171* 0.994 100 0% 79 24.1% 0 - - - - HMMPfam_Phospholip_A2_1,HMMSmart_SM00085,superfamily_Phospholipase A2 PLA2 TG 7038 genome.wustl.edu 37 8 133894112 133894112 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003235.4 +1 reviewed p.P215S 1.000 79 0% 82 19.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Thyroglobulin type-1 domain TG 7038 genome.wustl.edu 37 8 133923763 133923763 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003235.4 +1 reviewed p.D1382Y 0.108 230 0% 207 22.7% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL NDRG1 10397 genome.wustl.edu 37 8 134276881 134276881 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135242.1 -1 reviewed p.E38D 1.000 104 0% 101 34.7% 42 42.8% benign(0.002) tolerated(0.05) neutral(0.345) HMMPfam_Ndr,superfamily_alpha/beta-Hydrolases ZFAT 57623 genome.wustl.edu 37 8 135614561 135614561 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020863.3 -1 reviewed p.F467 0.879 43 0% 27 37% 2 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FAM135B 51059 genome.wustl.edu 37 8 139163741 139163741 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015912.3 -1 validated p.V993I 0.000 183 0% 175 28% 0 - benign(0) tolerated(1) - NULL FAM135B 51059 genome.wustl.edu 37 8 139165370 139165370 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015912.3 -1 validated p.V450I 0.000 193 0% 135 28.1% 0 - benign(0.017) tolerated(0.55) neutral(0.007) NULL COL22A1 169044 genome.wustl.edu 37 8 139620186 139620186 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152888.1 -1 validated p.G1342V 0.999 87 0% 69 33.3% 0 - unknown(0) deleterious(0) - HMMPfam_Collagen COL22A1 169044 genome.wustl.edu 37 8 139649023 139649023 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152888.1 -1 validated p.R1173C 0.089 866 0% 973 30.1% 0 - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_Collagen KCNK9 51305 genome.wustl.edu 37 8 140630618 140630618 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016601.2 -1 reviewed p.E336D 1.000 144 0% 116 34.5% 2 0% benign(0.341) tolerated(0.26) neutral(0.142) NULL TRAPPC9 83696 genome.wustl.edu 37 8 141262946 141262946 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031466.5 -1 reviewed p.T885 0.002 108 0% 83 13.3% 3 0% - - - HMMPfam_Trs120 PTK2 5747 genome.wustl.edu 37 8 141900822 141900822 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005607.3 -1 reviewed p.Y27* 1.000 138 0% 166 36.7% 5 20% - - - NULL DENND3 22898 genome.wustl.edu 37 8 142178147 142178147 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014957.2 +1 validated p.E520K 1.000 62 0% 48 33.3% 1 0% possibly_damaging(0.772) tolerated(0.13) deleterious(0.539) NULL DENND3 22898 genome.wustl.edu 37 8 142202480 142202480 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014957.2 +1 validated p.E1064* 0.009 37 0% 37 21.6% 8 12.5% - - - superfamily_WD40 repeat-like BAI1 575 genome.wustl.edu 37 8 143614791 143614791 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001702.2 +1 reviewed p.F1178 0.750 6 0.000 16 0.375 0 - unknown(0) - - HMMPfam_7tm_2 CYP11B1 1584 genome.wustl.edu 37 8 143960484 143960484 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000497.3 -1 reviewed p.R120I 0.997 50 2% 52 28.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 ZNF251 90987 genome.wustl.edu 37 8 145948191 145948191 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138367.1 -1 validated p.R285I 1.000 153 0% 151 30.5% 2 100% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF34 80778 genome.wustl.edu 37 8 146003535 146003535 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030580.3 -1 validated p.F37 0.989 17 0% 23 43.5% 1 0% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF16 7564 genome.wustl.edu 37 8 146157407 146157407 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001029976.2 -1 reviewed p.H256N 0.009 341 0% 424 24.1% 0 - benign(0.087) deleterious(0.03) neutral(0.371) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF252 286101 genome.wustl.edu 37 8 146202778 146202778 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000355436 -1 known p.R378I 1.000 53 0% 37 48.6% 1 100% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 DOCK8 81704 genome.wustl.edu 37 9 434846 434846 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203447.3 +1 reviewed p.E1582D 1.000 76 0% 75 22.7% 7 0% benign(0.362) tolerated(0.31) neutral(0.142) NULL DOCK8 81704 genome.wustl.edu 37 9 452072 452072 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203447.3 +1 reviewed p.R1940Q 1.000 20 0% 52 34.6% 4 0% probably_damaging(0.998) tolerated(0.19) deleterious(0.524) HMMPfam_Ded_cyto DMRT1 1761 genome.wustl.edu 37 9 916768 916768 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021951.2 +1 reviewed p.K276N 0.010 117 0% 127 40.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DMRT2 10655 genome.wustl.edu 37 9 1056478 1056478 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181872.4 +1 reviewed p.K297N 1.000 266 0% 359 39% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL VLDLR 7436 genome.wustl.edu 37 9 2641473 2641473 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003383.3 +1 reviewed p.D141G 1.000 139 0% 173 46.2% 4 75% benign(0) deleterious(0.03) neutral(0.364) HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module RFX3 5991 genome.wustl.edu 37 9 3270389 3270389 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_134428.1 -1 reviewed p.V447I 1.000 160 0% 165 22.4% 1 0% possibly_damaging(0.929) tolerated(0.06) deleterious(0.699) NULL RCL1 10171 genome.wustl.edu 37 9 4826993 4826993 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005772.3 +1 validated p.I115T 0.990 105 0% 186 11.8% 5 40% benign(0.046) deleterious(0.04) neutral(0.351) HMMPfam_RTC,superfamily_RNA3apos_cycl/enolpyr_transf_A/B JAK2 3717 genome.wustl.edu 37 9 5069953 5069953 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004972.3 +1 reviewed p.T514 0.995 68 0% 83 39.8% 4 0% - - - superfamily_SSF55550 JAK2 3717 genome.wustl.edu 37 9 5090813 5090813 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004972.3 +1 reviewed p.E987D 1.000 616 0% 552 22.1% 10 40% possibly_damaging(0.458) tolerated(0.28) neutral(0.181) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like C9orf46 55848 genome.wustl.edu 37 9 5361151 5361151 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018465.2 -1 provisional p.P83 0.605 231 0% 196 17.3% 39 23% - - - HMMPfam_DUF2368 KIAA1432 57589 genome.wustl.edu 37 9 5773975 5773975 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020829.2 +1 validated p.F1255C 1.000 159 0% 169 21.3% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ERMP1 79956 genome.wustl.edu 37 9 5810072 5810072 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024896.2 -1 validated p.G496E 1.000 211 0% 222 41.4% 3 100% probably_damaging(0.993) tolerated(0.1) deleterious(0.736) NULL KIAA2026 158358 genome.wustl.edu 37 9 5929105 5929105 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001017969.2 -1 validated p.R813S 1.000 148 0% 125 21.6% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL KIAA2026 158358 genome.wustl.edu 37 9 5969191 5969191 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001017969.2 -1 validated p.S347Y 1.000 87 0% 104 19.2% 1 0% benign(0.184) tolerated(0.19) neutral(0.067) NULL RANBP6 26953 genome.wustl.edu 37 9 6012449 6012449 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012416.2 -1 validated p.G1053 0.996 120 0% 132 32.6% 0 - - - - NULL RANBP6 26953 genome.wustl.edu 37 9 6014395 6014395 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012416.2 -1 validated p.L405I 1.000 116 0% 88 18.2% 0 - probably_damaging(0.986) tolerated(0.07) deleterious(0.754) HMMPfam_HEAT,superfamily_ARM-type_fold IL33 90865 genome.wustl.edu 37 9 6251254 6251254 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033439.2 +1 validated p.S111* 0.000 177 0% 209 46.9% 0 - - - - NULL GLDC 2731 genome.wustl.edu 37 9 6554760 6554760 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000170.2 -1 reviewed p.D742Y 1.000 39 0% 47 31.9% 0 - probably_damaging(1) tolerated(0.55) deleterious(0.507) superfamily_PyrdxlP-dep_Trfase_major GLDC 2731 genome.wustl.edu 37 9 6592950 6592950 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000170.2 -1 reviewed p.F434L 1.000 175 0% 232 44.4% 0 - possibly_damaging(0.946) deleterious(0.01) deleterious(0.796) superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_GDC-P LOC100287684 100287684 genome.wustl.edu 37 9 6835207 6835207 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002342904.1 -1 model p.L118 1.000 112 0% 121 23.1% 1 0% - - - NULL KDM4C 23081 genome.wustl.edu 37 9 7049132 7049132 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015061.3 +1 reviewed p.R786* 1.000 138 0% 167 19.2% 3 0% - - - NULL PTPRD 5789 genome.wustl.edu 37 9 8460436 8460436 + Missense_Mutation SNP C C G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002839.3 -1 reviewed p.V1284L 1.000 471 0% 491 40.7% 0 - possibly_damaging(0.493) tolerated(0.08) neutral(0.465) NULL PTPRD 5789 genome.wustl.edu 37 9 8518099 8518099 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002839.3 -1 reviewed p.S431L 0.983 223 0% 244 26.2% 0 - benign(0.121) tolerated(0.22) neutral(0.052) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MPDZ 8777 genome.wustl.edu 37 9 13192200 13192200 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003829.3 -1 validated p.R633Q 1.000 71 0% 54 38.9% 0 - benign(0.076) tolerated(0.09) neutral(0.302) HMMSmart_SM00228,superfamily_PDZ domain-like MPDZ 8777 genome.wustl.edu 37 9 13221476 13221476 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003829.3 -1 validated p.T257 0.219 174 0% 194 51.5% 0 - - - - HMMPfam_PDZ,superfamily_PDZ domain-like MPDZ 8777 genome.wustl.edu 37 9 13222363 13222363 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003829.3 -1 validated p.I206V 1.000 268 0% 357 21.6% 0 - possibly_damaging(0.547) tolerated(0.08) deleterious(0.485) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like NFIB 4781 genome.wustl.edu 37 9 14120548 14120548 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005596.2 -1 validated p.S379L 0.999 75 0% 86 46.5% 19 52.6% probably_damaging(0.963) deleterious(0.03) deleterious(0.770) HMMPfam_CTF_NFI CER1 9350 genome.wustl.edu 37 9 14722413 14722413 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005454.2 -1 reviewed p.F86L 0.421 261 0% 274 41.6% 0 - benign(0) tolerated(0.27) neutral(0.034) NULL FREM1 158326 genome.wustl.edu 37 9 14774113 14774113 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000427623 -1 known p.E16* 0.000 505 0% 537 46.7% 0 - - - - NULL FREM1 158326 genome.wustl.edu 37 9 14816796 14816796 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144966.5 -1 reviewed p.E874* 0.994 17 0% 31 51.6% 1 0% - - - NULL PSIP1 11168 genome.wustl.edu 37 9 15472667 15472667 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001128217.1 -1 validated p.R314* 1.000 350 0% 297 16.5% 36 11.1% - - - NULL C9orf93 203238 genome.wustl.edu 37 9 15571672 15571672 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173550.2 +1 predicted p.E31G 0.998 183 0% 164 22.6% 0 - benign(0.277) deleterious(0.01) neutral(0.435) NULL C9orf93 203238 genome.wustl.edu 37 9 15727869 15727869 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173550.2 +1 predicted p.E565 1.000 215 0% 241 21.2% 0 - - - - NULL C9orf93 203238 genome.wustl.edu 37 9 15777758 15777758 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000449575 +1 known p.P184H 0.979 137 0% 181 16.6% 2 0% - - - NULL CNTLN 54875 genome.wustl.edu 37 9 17226202 17226202 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017738.2 +1 validated p.E151* 1.000 83 0% 77 39% 0 - - - - NULL CNTLN 54875 genome.wustl.edu 37 9 17226274 17226274 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017738.2 +1 validated p.E175* 1.000 88 0% 76 43.4% 0 - - - - superfamily_Prefoldin CNTLN 54875 genome.wustl.edu 37 9 17298351 17298351 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017738.2 +1 validated e7+1 1.000 108 0% 81 49.4% 0 - - - - - CNTLN 54875 genome.wustl.edu 37 9 17416159 17416159 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017738.2 +1 validated p.R1029Q 1.000 163 0% 227 39.6% 0 - possibly_damaging(0.718) tolerated(0.11) deleterious(0.532) NULL FAM154A 158297 genome.wustl.edu 37 9 18928583 18928583 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153707.1 -1 predicted p.E298K 0.920 123 0% 88 55.7% 0 - probably_damaging(0.989) tolerated(0.87) neutral(0.440) NULL HAUS6 54801 genome.wustl.edu 37 9 19058057 19058057 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017645.3 -1 provisional p.R903I 1.000 158 0% 170 42.4% 2 100% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL SCARNA8 677776 genome.wustl.edu 37 9 19063686 19063686 + RNA SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NR_003009.1 -1 provisional NULL 1.000 176 0% 234 23.5% 0 - - - - - PLIN2 123 genome.wustl.edu 37 9 19121124 19121124 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001122.2 -1 reviewed p.D117Y 1.000 97 0% 113 15% 27 22.2% possibly_damaging(0.862) deleterious(0) deleterious(0.778) HMMPfam_Perilipin DENND4C 55667 genome.wustl.edu 37 9 19369845 19369845 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017925.4 +1 provisional p.K1560N 1.000 191 0% 163 22.7% 1 100% benign(0.067) tolerated(0.44) neutral(0.017) NULL LOC392288 392288 genome.wustl.edu 37 9 19461136 19461136 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_373277.5 -1 model p.R308* 0.997 136 0% 140 40% 0 - - - - HMMPfam_MAP1_LC3,superfamily_Ubiquitin-like MLLT3 4300 genome.wustl.edu 37 9 20414132 20414132 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004529.2 -1 validated p.E238* 1.000 573 0% 483 13.3% 0 - - - - NULL KIAA1797 54914 genome.wustl.edu 37 9 20907214 20907214 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017794.3 +1 validated p.M897I 0.989 331 0% 521 44.3% 3 100% possibly_damaging(0.94) deleterious(0) deleterious(0.830) superfamily_ARM-type_fold KIAA1797 54914 genome.wustl.edu 37 9 20981507 20981507 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017794.3 +1 validated p.E1487G 1.000 164 0% 216 44.4% 8 62.5% probably_damaging(0.983) deleterious(0.02) deleterious(0.812) superfamily_ARM-type_fold IFNA4 3441 genome.wustl.edu 37 9 21187354 21187354 + Silent SNP G G A rs147890478 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021068.2 -1 validated p.F59 0.082 272 0% 390 46.7% 0 - - - - HMMPfam_Interferon,HMMSmart_IFabd,superfamily_4_helix_cytokine IFNA10 3446 genome.wustl.edu 37 9 21206787 21206787 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002171.1 -1 provisional p.L104I 0.000 396 0% 450 9.1% 0 - benign(0.282) deleterious(0) deleterious(0.531) HMMPfam_Interferon,HMMSmart_SM00076,superfamily_4-helical cytokines IFNA5 3442 genome.wustl.edu 37 9 21305139 21305139 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002169.2 -1 validated p.M39I 0.000 301 0% 445 22.7% 0 - benign(0) tolerated(0.36) neutral(0.020) HMMPfam_Interferon,superfamily_4_helix_cytokine KLHL9 55958 genome.wustl.edu 37 9 21334600 21334600 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018847.2 -1 validated p.E87* 1.000 285 0% 205 20% 1 0% - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB IFNA13 3447 genome.wustl.edu 37 9 21367676 21367676 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006900.3 -1 validated p.E112K 0.006 483 0.2% 560 27.7% 0 - possibly_damaging(0.585) deleterious(0) deleterious(0.646) HMMPfam_Interferon,HMMSmart_SM00076,superfamily_4-helical cytokines CDKN2A 1029 genome.wustl.edu 37 9 21974588 21974588 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_058197.3 -1 reviewed p.S80L 0.000 305 0% 409 24.7% 0 - unknown(0) - - NULL DMRTA1 63951 genome.wustl.edu 37 9 22451470 22451470 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022160.2 +1 validated p.A359T 1.000 154 0% 164 14.6% 1 0% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_DMA LINGO2 158038 genome.wustl.edu 37 9 27949161 27949161 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152570.1 -1 provisional p.F503 0.952 187 0% 186 27.4% 0 - - - - NULL LINGO2 158038 genome.wustl.edu 37 9 27950650 27950650 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152570.1 -1 provisional p.S7* 1.000 107 0% 105 23.8% 0 - - - - NULL TAF1L 138474 genome.wustl.edu 37 9 32630240 32630240 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153809.2 -1 provisional p.E1780K 1.000 338 0% 443 17.8% 0 - probably_damaging(0.99) deleterious(0.04) deleterious(0.790) NULL TAF1L 138474 genome.wustl.edu 37 9 32630919 32630919 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153809.2 -1 provisional p.K1553N 1.000 353 0% 418 45.2% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 TAF1L 138474 genome.wustl.edu 37 9 32631965 32631965 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153809.2 -1 provisional p.R1205* 1.000 271 0.4% 394 43.1% 0 - - - - NULL TAF1L 138474 genome.wustl.edu 37 9 32632800 32632800 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153809.2 -1 provisional p.S926 1.000 318 0% 401 42.1% 0 - - - - NULL TAF1L 138474 genome.wustl.edu 37 9 32633108 32633108 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153809.2 -1 provisional p.D824Y 1.000 335 0% 374 24.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TAF1L 138474 genome.wustl.edu 37 9 32634000 32634000 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153809.2 -1 provisional p.E526 1.000 413 0% 522 16.7% 0 - - - - NULL TAF1L 138474 genome.wustl.edu 37 9 32634323 32634323 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153809.2 -1 provisional p.E419K 1.000 545 0.4% 653 46.4% 0 - probably_damaging(0.99) tolerated(0.06) deleterious(0.764) NULL BAG1 573 genome.wustl.edu 37 9 33255910 33255910 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004323.5 -1 reviewed p.F301V 1.000 156 0% 172 19.2% 69 42% probably_damaging(1) tolerated(0.51) deleterious(0.509) HMMPfam_BAG,HMMSmart_SM00264,superfamily_BAG domain KIAA1161 57462 genome.wustl.edu 37 9 34371853 34371853 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000297625 -1 known p.F329 1.000 22 0% 24 33.3% 4 0% - - - HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases DNAI1 27019 genome.wustl.edu 37 9 34512175 34512175 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012144.2 +1 reviewed p.I460M 0.988 101 0% 132 24.2% 0 - possibly_damaging(0.922) deleterious(0) deleterious(0.816) HMMSmart_WD40,superfamily_WD40_like C9orf131 138724 genome.wustl.edu 37 9 35045392 35045392 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203299.2 +1 validated p.S922 0.001 469 0% 426 42.7% 0 - - - - NULL FANCG 2189 genome.wustl.edu 37 9 35077397 35077397 + Splice_Site SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004629.1 -1 reviewed e5-1 0.992 103 0% 165 31.5% 1 100% - - - - LOC730110 730110 genome.wustl.edu 37 9 35148104 35148104 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002342891.1 -1 model p.R335K 1.000 131 0% 204 43.1% 0 - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC730110 730110 genome.wustl.edu 37 9 35148520 35148520 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002342891.1 -1 model p.R221I 0.940 61 0% 104 52.9% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers UNC13B 10497 genome.wustl.edu 37 9 35378351 35378351 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006377.3 +1 reviewed p.T626A 1.000 134 0.7% 168 25% 3 0% possibly_damaging(0.754) tolerated(0.11) deleterious(0.550) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB UNC13B 10497 genome.wustl.edu 37 9 35386208 35386208 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006377.3 +1 reviewed p.D922G 1.000 166 0% 250 42.4% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_DUF1041 RUSC2 9853 genome.wustl.edu 37 9 35548019 35548019 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135999.1 +1 validated p.R501C 1.000 63 0% 72 27.8% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C9orf100 84904 genome.wustl.edu 37 9 35662723 35662723 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032818.2 -1 provisional p.R230H 0.441 21 0% 18 22.2% 18 22.2% benign(0.116) deleterious(0.01) neutral(0.415) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like GBA2 57704 genome.wustl.edu 37 9 35748352 35748352 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020944.2 -1 reviewed p.M117R 1.000 124 0% 146 39.7% 4 25% possibly_damaging(0.707) deleterious(0) deleterious(0.700) NULL OR13J1 392309 genome.wustl.edu 37 9 35870213 35870213 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004487.1 -1 provisional p.F62 1.000 71 0% 91 23.1% 5 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2S2 56656 genome.wustl.edu 37 9 35957185 35957185 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019897.2 -1 provisional p.V304A 0.899 189 0% 233 16.7% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_SSF81321 RECK 8434 genome.wustl.edu 37 9 36100519 36100519 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021111.2 +1 reviewed p.S426Y 1.000 153 0% 154 48.1% 0 - probably_damaging(1) tolerated(1) deleterious(0.500) NULL RECK 8434 genome.wustl.edu 37 9 36118772 36118772 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021111.2 +1 reviewed p.E758K 0.957 74 0% 63 15.9% 2 0% benign(0) tolerated(0.67) neutral(0.003) HMMSmart_SM00280,HMMPfam_Kazal_2,superfamily_Kazal-type serine protease inhibitors CCIN 881 genome.wustl.edu 37 9 36170079 36170079 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005893.2 +1 reviewed p.E194* 1.000 88 0% 125 41.6% 0 - - - - HMMPfam_BACK MELK 9833 genome.wustl.edu 37 9 36665472 36665472 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014791.2 +1 provisional p.K434N 1.000 173 0% 191 12.6% 6 16.6% benign(0.005) deleterious(0.01) neutral(0.406) NULL PAX5 5079 genome.wustl.edu 37 9 37020790 37020790 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016734.1 -1 reviewed p.G19* 1.000 110 0% 165 45.5% 3 0% - - - HMMPfam_PAX,HMMSmart_SM00351,superfamily_Homeodomain-like LOC647013 647013 genome.wustl.edu 37 9 37477904 37477904 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001726034.2 +1 model p.A253 0.996 87 0% 175 41.7% 0 - - - - NULL FRMPD1 22844 genome.wustl.edu 37 9 37724229 37724229 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014907.2 +1 validated p.S175Y 1.000 66 0% 117 41% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL FRMPD1 22844 genome.wustl.edu 37 9 37740465 37740465 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014907.2 +1 validated p.R647I 0.000 53 0% 82 14.6% 0 - benign(0.144) tolerated(0.08) neutral(0.312) NULL DCAF10 79269 genome.wustl.edu 37 9 37854962 37854962 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024345.3 +1 validated p.R346I 1.000 241 0% 287 37.6% 6 16.6% probably_damaging(0.99) tolerated(0.09) deleterious(0.738) superfamily_WD40 repeat-like DCAF10 79269 genome.wustl.edu 37 9 37860089 37860089 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024345.3 +1 validated p.L404I 1.000 166 0% 187 11.2% 20 25% benign(0.297) tolerated(0.51) neutral(0.101) superfamily_WD40 repeat-like MCART1 92014 genome.wustl.edu 37 9 37888316 37888316 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033412.3 -1 validated p.R78* 1.000 248 0% 216 14.4% 6 16.6% - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr CNTNAP3 79937 genome.wustl.edu 37 9 39085785 39085785 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033655.3 -1 reviewed p.S1130 0.237 234 0% 252 25% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 ZNF658 26149 genome.wustl.edu 37 9 40773446 40773446 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033160.5 -1 validated p.T610N 0.100 733 0% 625 13.9% 0 - probably_damaging(0.979) tolerated(0.08) deleterious(0.722) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF658 26149 genome.wustl.edu 37 9 40773880 40773880 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033160.5 -1 validated p.E465D 1.000 447 0.2% 370 11.1% 0 - benign(0.105) tolerated(0.07) neutral(0.327) superfamily_C2H2 and C2HC zinc fingers ZNF658 26149 genome.wustl.edu 37 9 40774157 40774157 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033160.5 -1 validated p.R373I 0.995 584 0% 472 29.7% 0 - benign(0.278) tolerated(0.08) neutral(0.330) superfamily_C2H2 and C2HC zinc fingers ZNF658 26149 genome.wustl.edu 37 9 40774571 40774571 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033160.5 -1 validated p.S235I 0.018 276 0% 224 13.8% 0 - benign(0.278) deleterious(0.01) neutral(0.435) NULL FAM75A6 389730 genome.wustl.edu 37 9 43624724 43624724 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145196.1 -1 predicted p.P1321 0.001 268 0% 199 21.1% 0 - - - - NULL FAM75A6 389730 genome.wustl.edu 37 9 43625339 43625339 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145196.1 -1 predicted p.K1116 0.000 508 0% 354 28% 0 - - - - NULL FAM75A6 389730 genome.wustl.edu 37 9 43626820 43626820 + Missense_Mutation SNP G G A rs138779714 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145196.1 -1 predicted p.R623W 0.003 196 0% 139 36% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL FAM75A6 389730 genome.wustl.edu 37 9 43627789 43627789 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145196.1 -1 predicted p.D300Y 0.003 618 0% 556 23% 0 - probably_damaging(0.983) deleterious(0.01) deleterious(0.835) NULL LOC389722 389722 genome.wustl.edu 37 9 43815881 43815881 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002342910.1 +1 model p.F212C 1.000 478 0% 336 14.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CBWD6 644019 genome.wustl.edu 37 9 69238295 69238295 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001085457.1 -1 provisional p.I199 0.985 460 0% 346 13.9% 0 - - - - HMMPfam_cobW,superfamily_SSF52540 ANKRD20A4 728747 genome.wustl.edu 37 9 69385696 69385696 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098805.1 +1 provisional p.E99* 0.830 319 0% 258 14.7% 0 - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANKRD20A4 728747 genome.wustl.edu 37 9 69410145 69410145 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098805.1 +1 provisional p.K353N 0.000 800 0% 872 8.7% 0 - probably_damaging(0.962) deleterious(0.02) deleterious(0.788) NULL LOC100288765 100288765 genome.wustl.edu 37 9 69846808 69846808 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002342925.1 +1 model p.R301I 1.000 104 0% 117 11.1% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100288765 100288765 genome.wustl.edu 37 9 69846840 69846840 + Missense_Mutation SNP G G A rs4430994 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002342925.1 +1 model p.E312K 0.825 98 0% 118 14.4% 0 - - - - superfamily_C2H2 and C2HC zinc fingers PGM5 5239 genome.wustl.edu 37 9 70999404 70999404 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021965.3 +1 validated p.L172R 0.997 278 0% 224 29.9% 2 100% probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_Phosphoglucomutase first 3 domains PRKACG 5568 genome.wustl.edu 37 9 71628877 71628877 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002732.3 -1 reviewed p.F44 1.000 58 0% 71 36.6% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase FAM189A2 9413 genome.wustl.edu 37 9 72000831 72000831 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127608.1 +1 validated p.S275N 1.000 72 0% 47 31.9% 20 45% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL MAMDC2 256691 genome.wustl.edu 37 9 72755177 72755177 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153267.4 +1 validated p.R371W 0.997 379 0% 250 26.4% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_MAM,HMMSmart_SM00137 SMC5 23137 genome.wustl.edu 37 9 72897383 72897383 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015110.3 +1 validated p.R289C 0.976 137 0% 109 29.4% 1 0% benign(0.145) tolerated(0.11) neutral(0.284) HMMPfam_SMC_N,superfamily_SSF52540 TRPM3 80036 genome.wustl.edu 37 9 73151013 73151013 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000396280 -1 known p.R1509* 0.986 247 0% 243 18.1% 0 - - - - NULL TRPM3 80036 genome.wustl.edu 37 9 73461447 73461447 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001007471.2 -1 reviewed p.W175G 1.000 179 0% 141 37.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMC1 117531 genome.wustl.edu 37 9 75445572 75445572 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138691.2 +1 reviewed p.N745S 1.000 240 0% 224 28.1% 0 - unknown(0) tolerated(0.66) - NULL ALDH1A1 216 genome.wustl.edu 37 9 75531910 75531910 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000689.3 -1 reviewed p.R321* 0.827 285 0% 227 18.9% 101 0% - - - HMMPfam_Aldedh,superfamily_ALDH-like ALDH1A1 216 genome.wustl.edu 37 9 75542069 75542069 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000689.3 -1 reviewed p.R156K 1.000 239 0% 133 16.5% 48 14.5% benign(0.003) tolerated(0.11) neutral(0.272) HMMPfam_Aldedh,superfamily_ALDH-like TRPM6 140803 genome.wustl.edu 37 9 77417031 77417031 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017662.4 -1 reviewed p.D598N 0.958 119 0% 98 23.5% 0 - benign(0.317) deleterious(0.04) neutral(0.448) NULL TRPM6 140803 genome.wustl.edu 37 9 77448916 77448916 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017662.4 -1 reviewed p.D223N 1.000 201 0% 261 29.1% 0 - benign(0.014) tolerated(0.18) neutral(0.057) NULL TRPM6 140803 genome.wustl.edu 37 9 77457148 77457148 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017662.4 -1 reviewed p.T88 0.002 254 0% 209 26.3% 0 - - - - NULL PCSK5 5125 genome.wustl.edu 37 9 78601104 78601104 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006200.3 +1 reviewed p.F118 0.626 194 0% 159 23.3% 0 - - - - superfamily_Subtilisin-like PCSK5 5125 genome.wustl.edu 37 9 78784662 78784662 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006200.3 +1 reviewed p.F554L 0.999 189 0% 128 25% 0 - probably_damaging(0.996) deleterious(0.05) deleterious(0.807) HMMPfam_P_proprotein,superfamily_Galactose-binding domain-like PCSK5 5125 genome.wustl.edu 37 9 78784745 78784745 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006200.3 +1 reviewed p.F582C 1.000 166 0% 124 28.2% 0 - benign(0.001) tolerated(0.18) neutral(0.056) HMMPfam_P_proprotein,superfamily_Galactose-binding domain-like PRUNE2 158471 genome.wustl.edu 37 9 79318388 79318388 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015225.2 -1 validated p.L2714S 0.010 49 0% 60 55% 0 - benign(0.323) deleterious(0.04) neutral(0.450) NULL PRUNE2 158471 genome.wustl.edu 37 9 79320041 79320041 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015225.2 -1 validated p.D2383E 0.000 204 0% 188 22.3% 0 - possibly_damaging(0.49) tolerated(0.06) deleterious(0.486) NULL VPS13A 23230 genome.wustl.edu 37 9 79980394 79980394 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033305.2 +1 reviewed p.D2744Y 1.000 96 0% 69 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GNA14 9630 genome.wustl.edu 37 9 80040628 80040628 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004297.3 -1 reviewed p.R243C 1.000 195 0% 181 21% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases TLE4 7091 genome.wustl.edu 37 9 82264737 82264737 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000399288 +1 known p.E131D 0.007 109 0% 107 29% 0 - unknown(0) tolerated(0.26) - HMMPfam_TLE_N FAM75D1 389763 genome.wustl.edu 37 9 84603897 84603897 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001670.2 +1 validated p.E55G 0.000 198 0% 263 27.8% 0 - benign(0.045) tolerated(0.28) neutral(0.034) NULL FAM75D1 389763 genome.wustl.edu 37 9 84608680 84608680 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001670.2 +1 validated p.E1099K 0.000 206 0% 142 29.6% 0 - benign(0.008) deleterious(0.03) neutral(0.364) NULL FAM75D1 389763 genome.wustl.edu 37 9 84609858 84609858 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001670.2 +1 validated p.Q1491 0.000 132 0% 102 24.5% 0 - - - - NULL RASEF 158158 genome.wustl.edu 37 9 85615940 85615940 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152573.2 -1 provisional p.F436 0.958 148 0% 100 31% 0 - - - - NULL RASEF 158158 genome.wustl.edu 37 9 85622385 85622385 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152573.2 -1 provisional p.R332L 1.000 257 0% 235 32.8% 1 100% probably_damaging(1) tolerated(0.18) deleterious(0.556) NULL FRMD3 257019 genome.wustl.edu 37 9 85863195 85863195 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174938.4 -1 validated p.E478* 1.000 260 0% 191 26.2% 1 100% - - - NULL FRMD3 257019 genome.wustl.edu 37 9 85914084 85914084 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174938.4 -1 validated p.Q315P 1.000 99 0% 84 19% 0 - possibly_damaging(0.837) tolerated(0.3) neutral(0.348) HMMPfam_FERM_C,superfamily_PH domain-like C9orf103 414328 genome.wustl.edu 37 9 86258392 86258392 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000376417 +1 known p.E73* 1.000 90 0% 99 12.1% 17 41.1% - - - NULL GKAP1 80318 genome.wustl.edu 37 9 86357484 86357484 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025211.3 -1 reviewed p.V312 0.998 203 0% 216 28.2% 2 100% - - - NULL KIF27 55582 genome.wustl.edu 37 9 86495361 86495361 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017576.1 -1 provisional p.I832L 0.554 473 0% 374 30.2% 1 100% benign(0.069) tolerated(0.62) neutral(0.009) NULL KIF27 55582 genome.wustl.edu 37 9 86518519 86518519 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017576.1 -1 provisional p.S305Y 1.000 218 0% 240 27.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases AGTPBP1 23287 genome.wustl.edu 37 9 88248055 88248055 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015239.2 -1 validated p.P473S 0.001 202 0% 100 39% 0 - benign(0.014) tolerated(0.07) neutral(0.320) NULL GOLM1 51280 genome.wustl.edu 37 9 88661459 88661459 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016548.3 -1 reviewed p.Y131 0.033 42 0% 55 25.5% 34 14.7% - - - NULL ZCCHC6 79670 genome.wustl.edu 37 9 88916434 88916434 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024617.3 -1 validated p.E1393* 1.000 234 0% 246 28.9% 3 100% - - - superfamily_Retrovirus zinc finger-like domains DAPK1 1612 genome.wustl.edu 37 9 90315120 90315120 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004938.2 +1 reviewed p.H947N 1.000 161 0% 175 29.1% 8 50% benign(0.305) tolerated(0.17) neutral(0.154) NULL DAPK1 1612 genome.wustl.edu 37 9 90322134 90322134 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004938.2 +1 reviewed p.L1383P 1.000 28 0% 52 23.1% 10 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Death,HMMSmart_DEATH,superfamily_DEATH_like C9orf79 286234 genome.wustl.edu 37 9 90503001 90503001 + Missense_Mutation SNP G G C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178828.4 +1 validated p.C1200S 0.000 44 0% 27 29.6% 0 - benign(0) tolerated(0.75) neutral(0.002) NULL C9orf79 286234 genome.wustl.edu 37 9 90503515 90503515 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178828.4 +1 validated p.E1371 0.000 71 0% 66 34.8% 0 - benign(0.014) - - NULL SHC3 53358 genome.wustl.edu 37 9 91661883 91661883 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016848.4 -1 validated p.T330M 0.312 50 0% 76 31.6% 0 - benign(0.036) tolerated(0.11) neutral(0.274) NULL SHC3 53358 genome.wustl.edu 37 9 91686130 91686130 + Missense_Mutation SNP G G C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016848.4 -1 validated p.A256G 1.000 83 0% 69 26.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like SEMA4D 10507 genome.wustl.edu 37 9 91993948 91993948 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006378.3 -1 validated p.N754D 1.000 14 0% 26 23.1% 11 36.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SEMA4D 10507 genome.wustl.edu 37 9 92007426 92007426 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006378.3 -1 validated p.S178 0.000 50 0% 35 28.6% 2 0% - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema IARS 3376 genome.wustl.edu 37 9 95050173 95050173 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002161.4 -1 reviewed p.T99I 1.000 170 0% 209 21.1% 0 - benign(0.01) tolerated(0.14) neutral(0.250) HMMPfam_tRNA-synt_1,superfamily_SSF52374 OMD 4958 genome.wustl.edu 37 9 95177670 95177670 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005014.2 -1 validated p.E344* 0.967 116 0% 116 29.3% 0 - - - - superfamily_L domain-like ASPN 54829 genome.wustl.edu 37 9 95237148 95237148 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017680.3 -1 validated p.A11V 1.000 162 0% 122 28.7% 5 0% benign(0) tolerated(0.23) neutral(0.042) NULL ECM2 1842 genome.wustl.edu 37 9 95274321 95274321 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001393.2 -1 reviewed p.S381Y 1.000 273 0% 180 30% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_LRR_1,superfamily_SSF52058 ZNF484 83744 genome.wustl.edu 37 9 95608934 95608934 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031486.1 -1 provisional p.R712I 1.000 186 0% 210 34.8% 0 - possibly_damaging(0.828) tolerated(0.11) deleterious(0.586) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PTPDC1 138639 genome.wustl.edu 37 9 96859763 96859763 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152422.3 +1 reviewed p.F303L 1.000 295 0% 253 28.9% 2 100% possibly_damaging(0.912) deleterious(0.01) deleterious(0.769) NULL ZNF169 169841 genome.wustl.edu 37 9 97062151 97062151 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_194320.2 +1 validated p.S104L 0.001 126 0% 123 27.6% 0 - benign(0.059) tolerated(0.18) neutral(0.060) NULL C9orf3 84909 genome.wustl.edu 37 9 97555102 97555102 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032823.3 +1 provisional p.T340 0.061 229 0% 206 21.4% 2 50% - - - superfamily_SSF63737 FANCC 2176 genome.wustl.edu 37 9 97873756 97873756 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000136.2 -1 reviewed p.A440T 0.938 45 0% 46 15.2% 1 0% benign(0) tolerated(0.65) neutral(0.003) HMMPfam_Fanconi_C FANCC 2176 genome.wustl.edu 37 9 97873825 97873825 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000136.2 -1 reviewed p.E417K 0.397 57 0% 50 20% 3 66.6% benign(0.224) tolerated(0.25) neutral(0.059) HMMPfam_Fanconi_C PTCH1 5727 genome.wustl.edu 37 9 98209263 98209263 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000264.3 -1 reviewed p.S1425 0.275 62 0% 71 38% 1 0% unknown(0) - - NULL PTCH1 5727 genome.wustl.edu 37 9 98212216 98212216 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000264.3 -1 reviewed p.F1152L 1.000 28 0% 48 39.6% 4 25% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) HMMPfam_Patched,superfamily_SSF82866 C9orf102 375748 genome.wustl.edu 37 9 98775222 98775222 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000407474 +1 known p.L445I 0.283 137 0% 78 33.3% 1 100% possibly_damaging(0.923) tolerated(0.37) neutral(0.392) NULL HSD17B3 3293 genome.wustl.edu 37 9 99006625 99006625 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000197.1 -1 reviewed p.E220* 0.991 149 0% 125 17.6% 0 - - - - superfamily_NAD(P)-binding Rossmann-fold domains HABP4 22927 genome.wustl.edu 37 9 99252311 99252311 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014282.2 +1 validated p.A411 0.762 86 0% 78 24.4% 35 42.8% - - - NULL ZNF322P1 387328 genome.wustl.edu 37 9 99961416 99961416 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_199005.1 -1 validated p.F126L 0.589 491 0% 364 29.7% 0 - benign(0) deleterious(0.04) neutral(0.349) superfamily_SSF57667 C9orf174 100499483 genome.wustl.edu 37 9 100080790 100080790 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020893.1 +1 predicted p.T518 0.001 25 0% 23 34.8% 0 - - - - NULL C9orf174 100499483 genome.wustl.edu 37 9 100124606 100124606 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000375202 +1 known p.P1306L 0.000 63 0% 49 14.3% 0 - benign(0.138) deleterious(0) neutral(0.456) NULL C9orf174 100499483 genome.wustl.edu 37 9 100132355 100132355 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020893.1 +1 predicted p.E1436D 0.001 30 0% 29 20.7% 0 - benign(0.195) tolerated(0.51) neutral(0.027) NULL TDRD7 23424 genome.wustl.edu 37 9 100204017 100204017 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014290.2 +1 validated p.N239H 1.000 160 0.6% 131 22.9% 0 - benign(0.145) tolerated(0.06) neutral(0.335) NULL TDRD7 23424 genome.wustl.edu 37 9 100222963 100222963 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014290.2 +1 validated p.T453 0.111 141 0% 104 14.4% 9 22.2% - - - NULL TDRD7 23424 genome.wustl.edu 37 9 100245206 100245206 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014290.2 +1 validated p.R830C 0.991 239 0% 221 30.8% 5 40% benign(0.228) tolerated(0.19) neutral(0.072) NULL TDRD7 23424 genome.wustl.edu 37 9 100249576 100249576 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014290.2 +1 validated p.R1013Q 0.993 204 0% 159 19.5% 58 27.5% probably_damaging(0.999) tolerated(0.15) deleterious(0.732) HMMPfam_TUDOR TMOD1 7111 genome.wustl.edu 37 9 100328174 100328174 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003275.3 +1 reviewed p.K221N 0.419 148 0% 127 22.8% 35 34.2% possibly_damaging(0.947) tolerated(0.1) deleterious(0.677) HMMPfam_Tropomodulin,superfamily_SSF52047 TMOD1 7111 genome.wustl.edu 37 9 100353711 100353711 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003275.3 +1 reviewed p.D337Y 1.000 206 0% 151 31.1% 143 41.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tropomodulin,superfamily_SSF52047 TSTD2 158427 genome.wustl.edu 37 9 100373908 100373908 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139246.4 -1 validated p.V226G 0.997 260 0% 278 29.9% 4 75% benign(0.086) tolerated(0.24) neutral(0.044) NULL TSTD2 158427 genome.wustl.edu 37 9 100388068 100388068 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139246.4 -1 validated p.S126L 0.000 246 0% 259 29.3% 0 - benign(0) deleterious(0.05) neutral(0.345) NULL GABBR2 9568 genome.wustl.edu 37 9 101073404 101073404 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005458.7 -1 reviewed p.I659 0.870 185 0% 171 29.2% 0 - - - - HMMPfam_7tm_3 ANKS6 203286 genome.wustl.edu 37 9 101536359 101536359 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173551.3 -1 provisional p.R541* 1.000 29 0% 21 33.3% 9 0% - - - NULL COL15A1 1306 genome.wustl.edu 37 9 101787281 101787281 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001855.3 +1 reviewed p.P660 0.998 87 0% 124 27.4% 7 0% - - - HMMPfam_Collagen ERP44 23071 genome.wustl.edu 37 9 102784416 102784416 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015051.1 -1 validated p.R127 1.000 318 0% 319 27.3% 70 30% - - - superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin TEX10 54881 genome.wustl.edu 37 9 103102546 103102546 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017746.3 -1 validated p.N415H 0.999 255 0% 241 28.2% 5 0% possibly_damaging(0.834) tolerated(0.24) neutral(0.355) NULL MSANTD3 91283 genome.wustl.edu 37 9 103213161 103213161 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080655.1 +1 predicted p.K247N 1.000 147 0% 169 25.4% 6 16.6% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL BAAT 570 genome.wustl.edu 37 9 104125239 104125239 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127610.1 -1 reviewed p.S243Y 0.909 224 0% 216 33.3% 0 - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMPfam_BAAT_C,superfamily_SSF53474 ZNF189 7743 genome.wustl.edu 37 9 104170637 104170637 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003452.2 +1 validated p.R196I 1.000 386 0% 349 19.5% 1 100% probably_damaging(0.973) deleterious(0.05) deleterious(0.760) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF189 7743 genome.wustl.edu 37 9 104170889 104170889 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003452.2 +1 validated p.R280I 1.000 805 0.1% 696 22.8% 1 0% probably_damaging(0.973) tolerated(0.2) neutral(0.464) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RNF20 56254 genome.wustl.edu 37 9 104317023 104317023 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019592.5 +1 reviewed p.K689N 1.000 216 0% 144 22.9% 6 0% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL GRIN3A 116443 genome.wustl.edu 37 9 104433064 104433064 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133445.2 -1 reviewed p.L544 1.000 167 0% 165 30.9% 0 - - - - superfamily_SSF53822,superfamily_SSF53850 CYLC2 1539 genome.wustl.edu 37 9 105757676 105757676 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001340.3 +1 reviewed p.R5I 1.000 329 0% 243 26.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CYLC2 1539 genome.wustl.edu 37 9 105765496 105765496 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001340.3 +1 reviewed p.G44E 0.998 313 0% 280 21.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CYLC2 1539 genome.wustl.edu 37 9 105767861 105767861 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001340.3 +1 reviewed p.K316N 0.000 305 0% 198 24.7% 0 - unknown(0) tolerated(0.06) - NULL CYLC2 1539 genome.wustl.edu 37 9 105767921 105767921 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001340.3 +1 reviewed p.K336N 0.441 338 0% 193 31.1% 0 - unknown(0) tolerated(0.46) - NULL OR13C4 138804 genome.wustl.edu 37 9 107288807 107288807 + Silent SNP C C T rs141274906 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001919.1 -1 provisional p.T228 0.003 253 0% 181 22.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR13C8 138802 genome.wustl.edu 37 9 107332096 107332096 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004483.1 +1 provisional p.I216 0.170 298 0% 180 26.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 NIPSNAP3B 55335 genome.wustl.edu 37 9 107535280 107535280 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018376.2 +1 provisional p.R224W 1.000 141 0% 141 27% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NIPSNAP ABCA1 19 genome.wustl.edu 37 9 107588035 107588035 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005502.2 -1 reviewed p.S824L 0.993 246 0% 288 16% 0 - possibly_damaging(0.671) tolerated(0.16) neutral(0.297) NULL ABCA1 19 genome.wustl.edu 37 9 107645352 107645352 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005502.2 -1 reviewed p.R130I 0.006 220 0% 236 31.8% 0 - benign(0.123) tolerated(0.14) neutral(0.260) NULL ZNF462 58499 genome.wustl.edu 37 9 109687544 109687544 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021224.4 +1 validated p.R451* 1.000 347 0% 345 13% 0 - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF462 58499 genome.wustl.edu 37 9 109688068 109688068 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021224.4 +1 validated p.F625L 1.000 879 0% 722 26.9% 0 - possibly_damaging(0.792) deleterious(0) deleterious(0.742) superfamily_beta-sandwich domain of Sec23/24 ZNF462 58499 genome.wustl.edu 37 9 109691732 109691732 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021224.4 +1 validated p.R1847C 1.000 118 0% 89 27% 7 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_beta-sandwich domain of Sec23/24 IKBKAP 8518 genome.wustl.edu 37 9 111655307 111655307 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003640.3 -1 reviewed p.E973K 0.964 349 0% 266 32.3% 3 66.6% benign(0.006) tolerated(0.51) neutral(0.009) NULL IKBKAP 8518 genome.wustl.edu 37 9 111660956 111660956 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003640.3 -1 reviewed p.P760S 1.000 597 0% 481 23.1% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_IKI3 CTNNAL1 8727 genome.wustl.edu 37 9 111735037 111735037 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003798.2 -1 provisional p.K422T 1.000 83 0% 76 23.7% 6 66.6% possibly_damaging(0.697) tolerated(0.1) deleterious(0.536) superfamily_alpha-catenin/vinculin CTNNAL1 8727 genome.wustl.edu 37 9 111741738 111741738 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003798.2 -1 provisional p.E308D 1.000 112 0% 132 31.8% 1 0% unknown(0) tolerated(0.35) - superfamily_alpha-catenin/vinculin PTPN3 5774 genome.wustl.edu 37 9 112141883 112141883 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002829.3 -1 reviewed p.L899I 1.000 75 0% 75 24% 14 7.1% benign(0.411) tolerated(0.17) neutral(0.192) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 PTPN3 5774 genome.wustl.edu 37 9 112190917 112190917 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002829.3 -1 reviewed p.H271P 1.000 103 0% 45 24.4% 4 25% possibly_damaging(0.667) deleterious(0.02) deleterious(0.619) HMMPfam_FERM_C,superfamily_SSF50729 C9orf152 401546 genome.wustl.edu 37 9 112963727 112963727 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001012993.2 -1 validated p.S74L 0.236 156 0% 122 25.4% 17 70.5% benign(0.008) tolerated(0.37) neutral(0.019) NULL TXNDC8 255220 genome.wustl.edu 37 9 113091516 113091516 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001003936.2 -1 validated p.S62Y 0.226 159 0% 174 24.1% 0 - probably_damaging(0.983) tolerated(0.08) deleterious(0.729) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin SVEP1 79987 genome.wustl.edu 37 9 113228229 113228229 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153366.3 -1 validated p.K1080Q 0.949 53 0% 45 42.2% 0 - benign(0) tolerated(0.48) neutral(0.011) superfamily_Growth factor receptor domain,HMMPfam_GCC2_GCC3 MUSK 4593 genome.wustl.edu 37 9 113538238 113538238 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005592.3 +1 reviewed p.H452R 0.999 348 0% 272 20.6% 0 - benign(0.067) tolerated(0.1) neutral(0.291) NULL OR2K2 26248 genome.wustl.edu 37 9 114090714 114090714 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000374428 -1 known p.K29N 0.897 223 0% 225 19.1% 0 - benign(0.037) tolerated(0.17) neutral(0.061) superfamily_SSF81321 LRRC37A5P 652972 genome.wustl.edu 37 9 114371300 114371300 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000374306 -1 known p.R103Q 0.001 70 0% 135 34.1% 0 - unknown(0) - - NULL C9orf84 158401 genome.wustl.edu 37 9 114503791 114503791 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173521.3 -1 validated p.R316I 0.084 52 0% 69 27.5% 0 - benign(0.082) tolerated(0.14) neutral(0.256) NULL ZNF883 169834 genome.wustl.edu 37 9 115759677 115759677 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001101338.1 -1 validated p.S288Y 1.000 332 0% 253 25.3% 1 0% - - - superfamily_C2H2 and C2HC zinc fingers ZNF883 169834 genome.wustl.edu 37 9 115759770 115759770 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001101338.1 -1 validated p.R257I 1.000 219 0% 171 19.9% 2 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF883 169834 genome.wustl.edu 37 9 115760190 115760190 + Missense_Mutation SNP C C A rs185997453 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001101338.1 -1 validated p.R117I 0.971 144 0% 149 26.8% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FKBP15 23307 genome.wustl.edu 37 9 115928418 115928418 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015258.1 -1 validated p.P1200 0.927 22 0% 12 41.7% 74 41.8% - - - NULL FKBP15 23307 genome.wustl.edu 37 9 115946040 115946040 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015258.1 -1 validated p.R601Q 1.000 289 0.3% 304 26% 9 33.3% probably_damaging(0.991) tolerated(0.2) deleterious(0.493) NULL ZNF618 114991 genome.wustl.edu 37 9 116812120 116812120 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133374.2 +1 validated p.F753 0.966 79 0% 81 33.3% 9 77.7% - - - NULL ATP6V1G1 9550 genome.wustl.edu 37 9 117354909 117354909 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004888.3 +1 reviewed p.E54* 1.000 13 0% 17 23.5% 136 11% - - - HMMPfam_V-ATPase_G TNC 3371 genome.wustl.edu 37 9 117844986 117844986 + Silent SNP G G T rs189608079 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002160.2 -1 validated p.I744 0.993 92 0% 65 16.9% 4 0% - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like TNC 3371 genome.wustl.edu 37 9 117848353 117848353 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002160.2 -1 validated p.F553V 0.996 65 0% 76 21.1% 69 15.9% possibly_damaging(0.9) deleterious(0.01) deleterious(0.762) HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2 ASTN2 23245 genome.wustl.edu 37 9 119202920 119202920 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000417725 -1 known p.S32L 0.996 145 0% 113 16.8% 1 100% - - - NULL TLR4 7099 genome.wustl.edu 37 9 120475855 120475855 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138554.3 +1 reviewed p.F483 0.176 190 0% 124 32.3% 0 - - - - HMMSmart_SM00369,superfamily_L domain-like TLR4 7099 genome.wustl.edu 37 9 120476077 120476077 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138554.3 +1 reviewed p.M557I 0.000 176 0% 90 16.7% 2 0% benign(0.003) tolerated(0.19) neutral(0.050) superfamily_L domain-like CDK5RAP2 55755 genome.wustl.edu 37 9 123220733 123220733 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018249.4 -1 reviewed p.E790D 0.965 214 0% 211 30.3% 2 50% probably_damaging(0.973) deleterious(0) deleterious(0.859) NULL CDK5RAP2 55755 genome.wustl.edu 37 9 123249700 123249700 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018249.4 -1 reviewed p.D500Y 1.000 170 0% 137 25.5% 3 100% probably_damaging(0.967) deleterious(0.01) deleterious(0.815) NULL DAB2IP 153090 genome.wustl.edu 37 9 124530909 124530909 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032552.2 +1 validated p.E604 1.000 57 0% 47 31.9% 4 25% - - - HMMSmart_SM00323,superfamily_GTPase activation domain GAP PTGS1 5742 genome.wustl.edu 37 9 125143686 125143686 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000962.2 +1 reviewed p.R178H 0.001 54 0% 51 27.5% 1 0% benign(0) deleterious(0.03) neutral(0.364) superfamily_Heme-dependent peroxidases OR1J1 347168 genome.wustl.edu 37 9 125239431 125239431 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004451.1 -1 provisional p.Y259D 0.147 182 0% 166 24.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1J1 347168 genome.wustl.edu 37 9 125239867 125239867 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004451.1 -1 provisional p.F113 0.830 126 0% 158 19% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like OR1L6 392390 genome.wustl.edu 37 9 125512138 125512138 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004453.2 +1 validated p.K40N 0.247 473 0% 483 24% 0 - possibly_damaging(0.619) tolerated(0.15) neutral(0.457) superfamily_SSF81321 OR5C1 392391 genome.wustl.edu 37 9 125551281 125551281 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001923.1 +1 provisional p.R24C 0.001 180 0% 219 23.7% 0 - benign(0.016) tolerated(0.07) neutral(0.320) superfamily_Family A G protein-coupled receptor-like PDCL 5082 genome.wustl.edu 37 9 125582741 125582741 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005388.3 -1 reviewed p.E177* 1.000 189 0% 180 27.8% 4 25% - - - HMMPfam_Phosducin,superfamily_Thioredoxin-like RC3H2 54542 genome.wustl.edu 37 9 125621111 125621111 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001100588.1 -1 validated p.Q707R 1.000 184 0% 203 33.5% 1 100% benign(0.025) tolerated(0.15) neutral(0.242) NULL ZBTB26 57684 genome.wustl.edu 37 9 125681448 125681448 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020924.2 -1 provisional p.D256Y 1.000 200 0% 249 32.5% 1 0% benign(0.001) deleterious(0.02) neutral(0.383) NULL RABGAP1 23637 genome.wustl.edu 37 9 125772741 125772741 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012197.3 +1 validated p.R495C 1.000 140 0% 124 39.5% 0 - possibly_damaging(0.66) deleterious(0.04) deleterious(0.582) NULL STRBP 55342 genome.wustl.edu 37 9 125941299 125941299 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018387.4 -1 validated p.E71K 0.991 393 0% 285 25.6% 7 71.4% benign(0.001) tolerated(0.44) neutral(0.013) NULL GOLGA1 2800 genome.wustl.edu 37 9 127652754 127652754 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002077.3 -1 reviewed p.E471* 1.000 138 0% 196 29.1% 1 0% - - - NULL GOLGA1 2800 genome.wustl.edu 37 9 127674222 127674222 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002077.3 -1 reviewed p.Q309H 0.991 312 0% 372 27.2% 0 - benign(0.296) tolerated(0.13) neutral(0.344) superfamily_Prefoldin GOLGA1 2800 genome.wustl.edu 37 9 127691521 127691521 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002077.3 -1 reviewed p.E92G 1.000 96 0% 77 23.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SCAI 286205 genome.wustl.edu 37 9 127781206 127781206 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173690.4 -1 reviewed p.D268Y 1.000 246 0% 195 24.6% 1 0% probably_damaging(0.992) tolerated(1) neutral(0.448) NULL HSPA5 3309 genome.wustl.edu 37 9 128000875 128000875 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005347.3 -1 validated p.D410Y 1.000 105 0% 112 25% 1215 32.6% benign(0.093) deleterious(0.01) neutral(0.413) HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain GAPVD1 26130 genome.wustl.edu 37 9 128064821 128064821 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015635.2 +1 validated p.E249* 1.000 288 0% 200 28% 0 - - - - HMMPfam_RasGAP,superfamily_Rho_GAP GAPVD1 26130 genome.wustl.edu 37 9 128099668 128099668 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015635.2 +1 validated p.S919Y 1.000 140 0% 134 27.6% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MAPKAP1 79109 genome.wustl.edu 37 9 128434810 128434810 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001006617.1 -1 reviewed p.R15Q 1.000 236 0% 184 26.6% 14 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LMX1B 4010 genome.wustl.edu 37 9 129453169 129453169 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002316.3 +1 reviewed p.F104 0.659 16 0% 22 22.7% 0 - - - - HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) ZBTB43 23099 genome.wustl.edu 37 9 129595087 129595087 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135776.1 +1 validated p.I100S 1.000 92 0% 93 32.3% 0 - possibly_damaging(0.557) deleterious(0) deleterious(0.635) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB RPL12 6136 genome.wustl.edu 37 9 130211898 130211898 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000976.2 -1 reviewed p.R67 1.000 34 0% 33 39.4% 1776 47.7% - - - HMMPfam_Ribosomal_L11_N,HMMSmart_SM00649,superfamily_Ribosomal protein L11 N-terminal domain LRSAM1 90678 genome.wustl.edu 37 9 130236144 130236144 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005373.1 +1 validated p.I228 0.000 66 0% 65 33.8% 4 0% - - - superfamily_L domain-like LRSAM1 90678 genome.wustl.edu 37 9 130263303 130263303 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005373.1 +1 validated p.M643V 0.001 59 0% 63 41.3% 22 36.3% benign(0) tolerated(0.35) neutral(0.021) NULL AK1 203 genome.wustl.edu 37 9 130630633 130630633 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000413016 -1 known p.S102L 0.052 14 0% 23 30.4% 160 42.5% - - - HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases DNM1 1759 genome.wustl.edu 37 9 130982545 130982545 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004408.2 +1 reviewed p.F258L 1.000 70 0% 73 26% 0 - possibly_damaging(0.731) deleterious(0) deleterious(0.712) HMMPfam_Dynamin_M,superfamily_P-loop containing nucleoside triphosphate hydrolases SPTAN1 6709 genome.wustl.edu 37 9 131355300 131355300 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130438.1 +1 validated p.R1065H 1.000 28 0% 24 37.5% 18 16.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SPEC,superfamily_Spectrin TBC1D13 54662 genome.wustl.edu 37 9 131550668 131550668 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018201.3 +1 validated p.R27W 0.997 68 0% 77 24.7% 5 80% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_RabGAP_TBC NUP188 23511 genome.wustl.edu 37 9 131735486 131735486 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015354.1 +1 validated p.F387 0.958 144 0% 156 30.8% 4 25% - - - HMMPfam_Nup188 NUP188 23511 genome.wustl.edu 37 9 131756671 131756671 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015354.1 +1 validated p.L1013V 0.994 191 0% 194 24.2% 11 63.6% possibly_damaging(0.573) deleterious(0.03) deleterious(0.561) NULL FAM73B 84895 genome.wustl.edu 37 9 131832166 131832166 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032809.2 +1 predicted p.S499 1.000 55 0% 49 20.4% 6 16.6% - - - HMMPfam_DUF2217 ASS1 445 genome.wustl.edu 37 9 133333847 133333847 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000413709 +1 known p.S16N 1.000 25 0% 24 29.2% 107 21.4% - - - NULL ASS1 445 genome.wustl.edu 37 9 133376396 133376396 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000050.4 +1 reviewed p.V409 1.000 127 0% 164 21.3% 588 3.5% - - - NULL FUBP3 8939 genome.wustl.edu 37 9 133491892 133491892 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003934.1 +1 validated p.I185 0.981 30 0% 29 17.2% 27 44.4% - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) NUP214 8021 genome.wustl.edu 37 9 134019784 134019784 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005085.2 +1 reviewed p.S471Y 0.818 903 0.1% 1012 24.8% 3 66.6% possibly_damaging(0.604) tolerated(0.07) deleterious(0.528) NULL PRRC2B 84726 genome.wustl.edu 37 9 134350345 134350345 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013318.3 +1 validated p.K943N 1.000 15 0% 13 30.8% 0 - possibly_damaging(0.922) deleterious(0.02) deleterious(0.754) NULL POMT1 10585 genome.wustl.edu 37 9 134393624 134393624 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000372220 +1 known p.T7A 0.000 12 0% 16 37.5% 0 - possibly_damaging(0.857) - - NULL SETX 23064 genome.wustl.edu 37 9 135204332 135204332 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015046.5 -1 reviewed p.K885E 0.000 226 0% 184 29.3% 1 100% benign(0) deleterious(0.04) neutral(0.349) NULL GTF3C4 9329 genome.wustl.edu 37 9 135554622 135554622 + Nonsense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012204.2 +1 validated p.L539* 0.993 169 0% 181 26% 1 0% - - - NULL OBP2B 29989 genome.wustl.edu 37 9 136083888 136083888 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014581.2 -1 validated p.G58 0.000 46 0% 35 31.4% 200 1% - - - HMMPfam_Lipocalin,superfamily_Lipocalins SURF6 6838 genome.wustl.edu 37 9 136199547 136199547 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006753.4 -1 reviewed p.R148I 0.614 48 0% 69 15.9% 29 34.4% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_SURF6 DBH 1621 genome.wustl.edu 37 9 136507511 136507511 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000787.3 +1 reviewed p.I223 0.991 35 0% 36 38.9% 0 - - - - HMMPfam_Cu2_monooxygen,superfamily_PHM_PNGase_F WDR5 11091 genome.wustl.edu 37 9 137007080 137007080 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017588.2 +1 reviewed p.D92N 0.992 16 0% 23 26.1% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 COL5A1 1289 genome.wustl.edu 37 9 137622250 137622250 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000093.3 +1 reviewed p.D365N 0.256 35 0% 72 12.5% 5 0% unknown(0) tolerated(0.44) - NULL COL5A1 1289 genome.wustl.edu 37 9 137707811 137707811 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000093.3 +1 reviewed p.D1367Y 1.000 26 0% 28 21.4% 5 0% unknown(0) deleterious(0) - HMMPfam_Collagen COL5A1 1289 genome.wustl.edu 37 9 137717681 137717681 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000371820 +1 known p.L86I 0.996 56 0% 82 34.1% 28 0% - - - HMMPfam_COLFI,HMMSmart_SM00038 PPP1R26 9858 genome.wustl.edu 37 9 138378867 138378867 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014811.3 +1 validated p.I837 0.171 17 0% 30 40% 12 41.6% - - - NULL LCN9 392399 genome.wustl.edu 37 9 138555206 138555206 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001676.1 +1 provisional p.I13 0.001 19 0% 17 29.4% 0 - - - - NULL CAMSAP1 157922 genome.wustl.edu 37 9 138713422 138713422 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015447.3 -1 validated p.E1029K 1.000 46 0% 45 28.9% 2 0% probably_damaging(1) tolerated(0.15) deleterious(0.741) NULL CACNA1B 774 genome.wustl.edu 37 9 140946613 140946613 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000718.2 +1 validated p.K1260N 1.000 20 0% 24 29.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1B 774 genome.wustl.edu 37 9 140954126 140954126 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000718.2 +1 validated p.W1535C 1.000 84 0% 57 12.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1B 774 genome.wustl.edu 37 9 141016396 141016396 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000718.2 +1 validated p.S2322L 0.005 22 0% 19 47.4% 0 - benign(0.122) deleterious(0.02) neutral(0.393) NULL LARP4B 23185 genome.wustl.edu 37 10 859147 859147 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015155.1 -1 provisional p.R646* 0.975 85 0% 73 34.2% 12 25% - - - NULL PITRM1 10531 genome.wustl.edu 37 10 3185614 3185614 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014889.2 -1 validated p.R871Q 0.637 56 0% 38 23.7% 70 24.2% probably_damaging(0.999) tolerated(0.15) deleterious(0.732) HMMPfam_Peptidase_M16_C,superfamily_LuxS/MPP-like metallohydrolase AKR1C3 8644 genome.wustl.edu 37 10 5144686 5144686 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003739.4 +1 reviewed p.P230 0.000 127 0% 109 17.4% 11 0% - - - HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase TUBAL3 79861 genome.wustl.edu 37 10 5435597 5435597 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024803.2 -1 validated p.K408N 1.000 80 0% 76 26.3% 0 - possibly_damaging(0.829) deleterious(0) deleterious(0.759) superfamily_Tubulin C-terminal domain-like FAM208B 54906 genome.wustl.edu 37 10 5762919 5762919 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017782.4 +1 validated p.M44I 0.000 96 0% 109 25.7% 0 - benign(0) tolerated(0.6) neutral(0.004) NULL FAM208B 54906 genome.wustl.edu 37 10 5789816 5789816 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017782.4 +1 validated p.E1478K 0.010 89 0% 67 35.8% 1 0% benign(0.006) deleterious(0) neutral(0.445) NULL FAM208B 54906 genome.wustl.edu 37 10 5799555 5799555 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017782.4 +1 validated p.L2269I 0.000 355 0% 288 29.2% 9 11.1% possibly_damaging(0.667) tolerated(0.34) neutral(0.259) NULL FAM208B 54906 genome.wustl.edu 37 10 5803367 5803367 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017782.4 +1 validated p.E2369D 0.000 252 0% 221 24% 23 52.1% possibly_damaging(0.893) tolerated(0.11) deleterious(0.623) NULL FBXO18 84893 genome.wustl.edu 37 10 5958395 5958395 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032807.3 +1 reviewed p.V639 1.000 182 0% 155 19.4% 29 13.7% - - - superfamily_SSF52540 IL2RA 3559 genome.wustl.edu 37 10 6061878 6061878 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000417.2 -1 reviewed p.E204K 0.015 39 0% 70 14.3% 1 0% possibly_damaging(0.906) tolerated(0.08) deleterious(0.659) NULL IL2RA 3559 genome.wustl.edu 37 10 6067923 6067923 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000417.2 -1 reviewed p.G44* 0.968 89 0% 92 23.9% 1 0% - - - HMMPfam_Sushi,HMMSmart_CCP PRKCQ 5588 genome.wustl.edu 37 10 6498675 6498675 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000397178 -1 known p.R309Q 0.919 205 0% 185 31.9% 6 50% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SFMBT2 57713 genome.wustl.edu 37 10 7214511 7214511 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001029880.1 -1 provisional p.F699 0.995 20 0% 24 29.2% 0 - - - - NULL SFMBT2 57713 genome.wustl.edu 37 10 7230644 7230644 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001029880.1 -1 provisional p.E584K 1.000 92 0% 104 27.9% 0 - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL SFMBT2 57713 genome.wustl.edu 37 10 7423858 7423858 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001029880.1 -1 provisional p.M1I 1.000 93 0% 78 29.5% 0 - benign(0.147) deleterious(0) neutral(0.458) NULL ITIH5 80760 genome.wustl.edu 37 10 7697597 7697597 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030569.5 -1 validated p.R44 1.000 169 0% 138 21% 0 - - - - HMMSmart_SM00609 TAF3 83860 genome.wustl.edu 37 10 7866349 7866349 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031923.2 +1 provisional p.E79* 1.000 410 0% 301 30.9% 2 0% - - - HMMPfam_Bromo_TP,HMMSmart_BTP TAF3 83860 genome.wustl.edu 37 10 8006793 8006793 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031923.2 +1 provisional p.A440 0.000 292 0% 288 16% 0 - - - - NULL CELF2 10659 genome.wustl.edu 37 10 11047382 11047382 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001025077.2 +1 reviewed p.R11I 1.000 242 0% 338 20.1% 0 - benign(0.17) tolerated(0.29) neutral(0.044) superfamily_RNA-binding domain RBD USP6NL 9712 genome.wustl.edu 37 10 11551642 11551642 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080491.2 -1 validated p.K93N 1.000 22 0% 18 38.9% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Ypt/Rab-GAP domain of gyp1p SEC61A2 55176 genome.wustl.edu 37 10 12203118 12203118 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018144.3 +1 reviewed p.D389Y 1.000 131 0% 122 33.6% 7 14.2% possibly_damaging(0.87) deleterious(0) deleterious(0.782) HMMPfam_SecY,superfamily_Preprotein translocase SecY subunit CAMK1D 57118 genome.wustl.edu 37 10 12595226 12595226 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153498.2 +1 reviewed p.G32E 1.000 243 0% 266 33.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase CAMK1D 57118 genome.wustl.edu 37 10 12811797 12811797 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153498.2 +1 reviewed p.V188 0.005 80 0% 61 32.8% 3 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CAMK1D 57118 genome.wustl.edu 37 10 12870833 12870833 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153498.2 +1 reviewed p.E369K 0.984 31 0% 32 21.9% 1 0% benign(0.007) tolerated(0.06) neutral(0.323) NULL SEPHS1 22929 genome.wustl.edu 37 10 13386914 13386914 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012247.3 -1 reviewed p.E13K 1.000 182 0% 186 29% 6 16.6% benign(0.139) tolerated(0.06) neutral(0.335) NULL FRMD4A 55691 genome.wustl.edu 37 10 13708203 13708203 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018027.3 -1 validated p.S499 0.009 100 0% 78 32.1% 3 0% - - - NULL SUV39H2 79723 genome.wustl.edu 37 10 14939107 14939107 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024670.3 +1 provisional p.R87I 0.994 210 0% 159 31.4% 0 - benign(0.003) tolerated(0.52) neutral(0.009) HMMPfam_Pre-SET,superfamily_SSF82199 SUV39H2 79723 genome.wustl.edu 37 10 14939434 14939434 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024670.3 +1 provisional p.R196Q 1.000 220 0% 148 27.7% 5 40% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 OLAH 55301 genome.wustl.edu 37 10 15113801 15113801 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018324.2 +1 validated p.V247I 0.000 76 0% 93 12.9% 0 - benign(0.001) tolerated(0.48) neutral(0.011) HMMPfam_Thioesterase,superfamily_SSF53474 ACBD7 414149 genome.wustl.edu 37 10 15120970 15120970 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039844.2 -1 validated p.E28* 1.000 333 0% 417 27.1% 2 50% - - - HMMPfam_ACBP,superfamily_Acyl-CoA binding protein FAM171A1 221061 genome.wustl.edu 37 10 15255388 15255388 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010924.1 -1 validated p.N733 0.827 80 0% 70 27.1% 0 - - - - HMMPfam_UPF0560 ITGA8 8516 genome.wustl.edu 37 10 15649742 15649742 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003638.1 -1 provisional p.R566 0.001 534 0% 475 33.5% 0 - - - - HMMPfam_Integrin_alpha2,superfamily_SSF69179 RSU1 6251 genome.wustl.edu 37 10 16794653 16794653 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012425.3 -1 reviewed e6-1 1.000 200 0% 146 29.5% 0 - - - - - CUBN 8029 genome.wustl.edu 37 10 17026169 17026169 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001081.3 -1 reviewed p.R1487Q 0.991 223 0% 218 26.6% 0 - benign(0.233) deleterious(0.04) neutral(0.372) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 17088054 17088054 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001081.3 -1 reviewed p.F1123L 0.988 214 0% 147 30.6% 0 - possibly_damaging(0.869) tolerated(0.09) deleterious(0.633) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain ST8SIA6 338596 genome.wustl.edu 37 10 17362928 17362928 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004470.1 -1 validated p.L382 0.995 457 0% 387 23.3% 0 - - - - HMMPfam_Glyco_transf_29 MRC1 4360 genome.wustl.edu 37 10 17865381 17865381 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001009567.1 +1 reviewed p.E124* 1.000 366 0% 284 35.9% 0 - - - - HMMSmart_SM00458,superfamily_Ricin B-like lectins CACNB2 783 genome.wustl.edu 37 10 18828572 18828572 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_201596.2 +1 reviewed p.Y634* 1.000 97 0% 138 27.5% 0 - - - - NULL NEBL 10529 genome.wustl.edu 37 10 21120214 21120214 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006393.2 -1 reviewed p.E528* 1.000 193 0% 169 29% 0 - - - - HMMPfam_Nebulin,HMMSmart_SM00227 C10orf113 387638 genome.wustl.edu 37 10 21414779 21414779 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010896.2 -1 validated p.K137N 0.000 419 0% 380 23.9% 0 - unknown(0) - - NULL C10orf113 387638 genome.wustl.edu 37 10 21414799 21414799 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010896.2 -1 validated p.E131* 0.055 404 0% 359 29% 0 - - - - NULL C10orf140 387640 genome.wustl.edu 37 10 21804876 21804876 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207371.3 -1 validated p.S626A 0.028 52 1.9% 59 23.7% 0 - benign(0.013) tolerated(1) neutral(0.001) NULL ARMC3 219681 genome.wustl.edu 37 10 23257260 23257260 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173081.3 +1 validated p.A253V 0.995 199 0% 105 30.5% 9 66.6% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMSmart_SM00185,superfamily_ARM repeat ARMC3 219681 genome.wustl.edu 37 10 23292194 23292194 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173081.3 +1 validated p.E528K 1.000 163 0% 105 15.2% 6 50% probably_damaging(0.998) tolerated(0.19) deleterious(0.524) superfamily_ARM repeat MSRB2 22921 genome.wustl.edu 37 10 23393076 23393076 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012228.3 +1 validated p.S41Y 0.089 280 0% 276 27.5% 47 59.5% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL KIAA1217 56243 genome.wustl.edu 37 10 24762419 24762419 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019590.3 +1 validated p.R370I 1.000 246 0% 237 21.9% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1217 56243 genome.wustl.edu 37 10 24809053 24809053 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019590.3 +1 validated p.E727K 1.000 133 0% 95 18.9% 5 0% possibly_damaging(0.835) deleterious(0.01) deleterious(0.724) NULL KIAA1217 56243 genome.wustl.edu 37 10 24832448 24832448 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019590.3 +1 validated p.D1417N 0.856 269 0.4% 289 23.5% 27 29.6% probably_damaging(0.998) tolerated(0.17) deleterious(0.533) NULL KIAA1217 56243 genome.wustl.edu 37 10 24832559 24832559 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019590.3 +1 validated p.R1454W 1.000 288 0% 276 25% 27 37% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1217 56243 genome.wustl.edu 37 10 24835117 24835117 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019590.3 +1 validated p.S1899Y 1.000 192 0% 148 12.2% 108 15.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARHGAP21 57584 genome.wustl.edu 37 10 24908950 24908950 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020824.3 -1 validated p.S625Y 0.998 443 0.2% 389 31.9% 1 0% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL THNSL1 79896 genome.wustl.edu 37 10 25312315 25312315 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024838.4 +1 validated p.D55Y 1.000 209 0% 141 19.9% 0 - probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL THNSL1 79896 genome.wustl.edu 37 10 25313397 25313397 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024838.4 +1 validated p.F415 1.000 245 0% 184 25% 6 66.6% - - - HMMPfam_PALP,superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes GPR158 57512 genome.wustl.edu 37 10 25755615 25755615 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020752.2 +1 validated p.T457 0.980 221 0% 106 21.7% 0 - - - - HMMPfam_7tm_3 GPR158 57512 genome.wustl.edu 37 10 25861613 25861613 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020752.2 +1 validated p.R517Q 1.000 244 0% 202 16.8% 1 0% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMPfam_7tm_3 GPR158 57512 genome.wustl.edu 37 10 25883238 25883238 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020752.2 +1 validated p.R637I 0.027 176 0% 120 27.5% 0 - benign(0.367) tolerated(0.13) neutral(0.369) HMMPfam_7tm_3 MYO3A 53904 genome.wustl.edu 37 10 26457659 26457659 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017433.4 +1 reviewed p.H1044N 1.000 289 0% 253 25.3% 0 - probably_damaging(1) tolerated(0.2) deleterious(0.549) HMMSmart_MYSc,superfamily_SSF52540 MYO3A 53904 genome.wustl.edu 37 10 26465757 26465757 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017433.4 +1 reviewed p.S1474F 0.978 176 0% 110 20% 0 - benign(0.273) tolerated(0.12) neutral(0.290) NULL APBB1IP 54518 genome.wustl.edu 37 10 26800746 26800746 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019043.3 +1 validated p.R201Q 1.000 100 0% 106 32.1% 8 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RA,HMMSmart_RA ABI1 10006 genome.wustl.edu 37 10 27040543 27040543 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005470.3 -1 validated p.K445N 0.998 138 0% 90 31.1% 8 75% benign(0.148) deleterious(0.01) neutral(0.419) superfamily_SH3-domain ANKRD26 22852 genome.wustl.edu 37 10 27294557 27294557 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014915.2 -1 validated p.E1699* 0.794 467 0% 342 29.8% 0 - - - - NULL YME1L1 10730 genome.wustl.edu 37 10 27425211 27425211 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139312.1 -1 reviewed p.F235 0.909 135 0% 130 30.8% 4 0% - - - NULL MASTL 84930 genome.wustl.edu 37 10 27469976 27469976 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032844.3 +1 reviewed p.F786L 1.000 100 0% 93 18.3% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Kinase_like,HMMPfam_Pkinase PTCHD3 374308 genome.wustl.edu 37 10 27700742 27700742 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001034842.3 -1 validated p.C402* 0.992 106 0% 99 26.3% 0 - - - - HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain PTCHD3 374308 genome.wustl.edu 37 10 27702546 27702546 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001034842.3 -1 validated p.L212M 0.026 47 0% 47 31.9% 0 - probably_damaging(0.993) deleterious(0.03) deleterious(0.815) HMMPfam_Patched ARMC4 55130 genome.wustl.edu 37 10 28196621 28196621 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018076.2 -1 validated p.A861T 1.000 157 0% 158 34.8% 2 100% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMSmart_SM00185,superfamily_ARM repeat ARMC4 55130 genome.wustl.edu 37 10 28196686 28196686 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018076.2 -1 validated p.G839E 1.000 163 0% 185 29.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00185,superfamily_ARM repeat ARMC4 55130 genome.wustl.edu 37 10 28228883 28228883 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018076.2 -1 validated p.K680N 1.000 96 0% 58 24.1% 0 - benign(0.007) tolerated(0.18) neutral(0.056) HMMSmart_SM00185,superfamily_ARM repeat ARMC4 55130 genome.wustl.edu 37 10 28283880 28283880 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018076.2 -1 validated p.A64 0.000 133 0% 161 32.3% 0 - - - - NULL WAC 51322 genome.wustl.edu 37 10 28897148 28897148 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016628.3 +1 reviewed p.S318Y 1.000 240 0% 226 33.2% 49 46.9% possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL SVIL 6840 genome.wustl.edu 37 10 29747453 29747453 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021738.2 -1 reviewed p.I2156M 0.764 60 0% 82 30.5% 20 40% benign(0.422) deleterious(0.04) deleterious(0.486) superfamily_VHP Villin headpiece domain SVIL 6840 genome.wustl.edu 37 10 29813538 29813538 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021738.2 -1 reviewed p.E817K 1.000 206 0.5% 181 25.4% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MTPAP 55149 genome.wustl.edu 37 10 30638149 30638149 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018109.3 -1 validated p.R19I 0.001 54 0% 50 36% 1 100% probably_damaging(0.961) deleterious(0) deleterious(0.849) NULL LOC645954 645954 genome.wustl.edu 37 10 30992506 30992506 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_017086.3 +1 model NULL 1.000 389 0% 417 25.9% 0 - - - - - ZEB1 6935 genome.wustl.edu 37 10 31809857 31809857 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030751.5 +1 reviewed p.L532I 0.999 349 0% 281 19.6% 0 - possibly_damaging(0.886) tolerated(0.27) neutral(0.380) NULL PARD3 56288 genome.wustl.edu 37 10 34671821 34671821 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019619.3 -1 validated p.R349H 1.000 299 0% 269 24.9% 3 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMSmart_SM00228,superfamily_PDZ domain-like PARD3 56288 genome.wustl.edu 37 10 34690760 34690760 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019619.3 -1 validated p.S267Y 1.000 242 0% 216 24.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_PDZ domain-like CCNY 219771 genome.wustl.edu 37 10 35858032 35858032 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145012.4 +1 validated p.A320 0.072 33 0% 18 33.3% 23 17.3% - - - NULL ANKRD30A 91074 genome.wustl.edu 37 10 37430937 37430937 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052997.2 +1 validated p.K315T 0.033 196 0% 214 36.4% 0 - possibly_damaging(0.662) tolerated(0.25) neutral(0.271) NULL ANKRD30A 91074 genome.wustl.edu 37 10 37431037 37431037 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052997.2 +1 validated p.E348D 0.294 214 0% 272 28.7% 0 - benign(0.105) deleterious(0.02) neutral(0.391) NULL ANKRD30A 91074 genome.wustl.edu 37 10 37442560 37442560 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052997.2 +1 validated p.E534* 0.002 255 0% 275 11.3% 0 - - - - NULL ANKRD30A 91074 genome.wustl.edu 37 10 37478455 37478455 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052997.2 +1 validated p.E772* 0.002 174 0% 134 29.1% 0 - - - - NULL ANKRD30A 91074 genome.wustl.edu 37 10 37508061 37508061 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052997.2 +1 validated p.E1085* 0.996 497 0% 544 25.4% 0 - - - - NULL ANKRD30A 91074 genome.wustl.edu 37 10 37508345 37508345 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052997.2 +1 validated p.M1179I 0.907 186 0% 240 32.5% 0 - benign(0.002) tolerated(0.14) neutral(0.249) NULL LOC646360 646360 genome.wustl.edu 37 10 37626961 37626961 + RNA SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_078419.1 +1 model NULL 0.061 127 0% 115 20% 0 - - - - - LOC646360 646360 genome.wustl.edu 37 10 37627172 37627172 + RNA SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_078419.1 +1 model NULL 0.986 134 0% 128 22.7% 0 - - - - - ZNF33A 7581 genome.wustl.edu 37 10 38344399 38344399 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006954.1 +1 validated p.S449 0.630 252 0% 279 16.1% 3 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF33A 7581 genome.wustl.edu 37 10 38344938 38344938 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006954.1 +1 validated p.R629K 1.000 283 0% 335 33.1% 1 0% benign(0.059) tolerated(0.37) neutral(0.023) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF33A 7581 genome.wustl.edu 37 10 38345155 38345155 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006954.1 +1 validated p.F701 0.507 379 0% 351 32.2% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF33A 7581 genome.wustl.edu 37 10 38345342 38345342 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006954.1 +1 validated p.L764F 0.262 318 0% 304 16.8% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF37A 7587 genome.wustl.edu 37 10 38407035 38407035 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001007094.2 +1 validated p.R319I 0.995 432 0.2% 422 24.4% 0 - possibly_damaging(0.669) deleterious(0.03) deleterious(0.601) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC728064 728064 genome.wustl.edu 37 10 43191243 43191243 + RNA SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_015196.2 -1 model NULL 0.765 70 0% 65 26.2% 0 - - - - - BMS1 9790 genome.wustl.edu 37 10 43289381 43289381 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014753.3 +1 reviewed p.R391* 1.000 390 0% 324 21.3% 5 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases BMS1 9790 genome.wustl.edu 37 10 43292423 43292423 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014753.3 +1 reviewed p.F577 0.977 291 0% 289 13.1% 3 33.3% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases RET 5979 genome.wustl.edu 37 10 43610018 43610018 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020975.4 +1 reviewed p.I657S 1.000 28 0% 35 31.4% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RET 5979 genome.wustl.edu 37 10 43620409 43620409 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020975.4 +1 reviewed p.E1006D 1.000 35 0% 26 19.2% 0 - benign(0.002) tolerated(0.33) neutral(0.024) superfamily_Kinase_like HNRNPF 3185 genome.wustl.edu 37 10 43882253 43882253 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098204.1 -1 reviewed p.F360L 1.000 126 0% 169 27.8% 132 37.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00360,superfamily_RNA-binding domain RBD ZNF485 220992 genome.wustl.edu 37 10 44112444 44112444 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145312.3 +1 validated p.R318I 0.937 110 0% 120 32.5% 0 - possibly_damaging(0.854) tolerated(0.06) deleterious(0.651) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFAND4 93550 genome.wustl.edu 37 10 46112007 46112007 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001128324.1 -1 validated p.N687 1.000 206 0% 186 22.6% 2 50% - - - HMMPfam_zf-AN1,HMMSmart_SM00154 ASAH2C 653365 genome.wustl.edu 37 10 48020500 48020500 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000426610 -1 known p.E336* 1.000 339 0% 428 31.1% 0 - - - - HMMPfam_Ceramidase_alk ASAH2C 653365 genome.wustl.edu 37 10 48025344 48025344 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000426610 -1 known p.A299V 1.000 332 0% 440 30% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ceramidase_alk GDF10 2662 genome.wustl.edu 37 10 48428790 48428790 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004962.2 -1 reviewed p.R366W 0.986 42 0% 46 28.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTPN20C 653045 genome.wustl.edu 37 10 49275391 49275391 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000316733 -1 known p.E287D 1.000 530 0% 530 23.2% 0 - possibly_damaging(0.472) tolerated(0.56) neutral(0.163) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II FRMPD2 143162 genome.wustl.edu 37 10 49371690 49371690 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001018071.3 -1 reviewed p.E1188* 0.286 1051 0% 1221 22.7% 0 - - - - superfamily_PDZ domain-like C10orf71 118461 genome.wustl.edu 37 10 50532549 50532549 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135196.1 +1 validated p.D653E 0.000 118 0% 94 35.1% 0 - benign(0.001) tolerated(1) - NULL DRGX 644168 genome.wustl.edu 37 10 50598233 50598233 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080520.1 -1 provisional p.V65 1.000 30 0% 26 15.4% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like ERCC6 2074 genome.wustl.edu 37 10 50682263 50682263 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000124.2 -1 reviewed p.R803I 0.995 305 0% 232 29.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N ERCC6 2074 genome.wustl.edu 37 10 50686488 50686488 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000124.2 -1 reviewed p.V733A 1.000 396 0% 257 28% 1 0% benign(0.095) deleterious(0.01) neutral(0.413) HMMPfam_SNF2_N CHAT 1103 genome.wustl.edu 37 10 50828618 50828618 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020549.4 +1 reviewed p.I219 1.000 103 0% 168 29.8% 0 - - - - HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases CHAT 1103 genome.wustl.edu 37 10 50835705 50835705 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020549.4 +1 reviewed p.L329M 1.000 140 0% 145 26.9% 0 - probably_damaging(0.957) tolerated(0.06) deleterious(0.723) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases CHAT 1103 genome.wustl.edu 37 10 50856565 50856565 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020549.4 +1 reviewed p.R432 0.982 13 0% 25 28% 0 - - - - HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_2,superfamily_CoA-dependent acyltransferases PARG 8505 genome.wustl.edu 37 10 51093279 51093279 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003631.2 -1 reviewed p.I600 0.982 288 0% 240 24.2% 1 100% - - - HMMPfam_PARG_cat NCOA4 8031 genome.wustl.edu 37 10 51586398 51586398 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145260.1 +1 reviewed p.R625Q 1.000 334 0% 261 20.3% 37 18.9% unknown(0) - - NULL PRKG1 5592 genome.wustl.edu 37 10 53814262 53814262 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006258.2 +1 validated p.E261K 1.000 204 0% 127 25.2% 0 - benign(0.022) tolerated(0.12) neutral(0.262) HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like PRKG1 5592 genome.wustl.edu 37 10 54040579 54040579 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006258.2 +1 validated p.F478L 1.000 161 0% 131 23.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PCDH15 65217 genome.wustl.edu 37 10 55569246 55569246 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142769.1 -1 reviewed p.E1527* 0.990 310 0% 269 20.4% 0 - - - - NULL PCDH15 65217 genome.wustl.edu 37 10 55626507 55626507 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142763.1 -1 reviewed p.I1209 1.000 307 0% 260 31.2% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH15 65217 genome.wustl.edu 37 10 55913042 55913042 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142763.1 -1 reviewed p.V539 0.019 263 0% 191 27.7% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like IPMK 253430 genome.wustl.edu 37 10 59986854 59986854 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152230.3 -1 provisional p.K108T 1.000 257 0% 208 25.5% 0 - benign(0.036) tolerated(0.23) neutral(0.044) HMMPfam_IPK,superfamily_SSF56104 BICC1 80114 genome.wustl.edu 37 10 60573646 60573646 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080512.1 +1 reviewed p.S811 0.108 278 0.4% 258 25.6% 0 - - - - NULL PHYHIPL 84457 genome.wustl.edu 37 10 61005146 61005146 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032439.3 +1 validated p.K309T 1.000 247 0% 238 30.3% 0 - benign(0.033) tolerated(0.39) neutral(0.018) NULL FAM13C 220965 genome.wustl.edu 37 10 61014093 61014093 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000422313 -1 known p.T449 0.000 274 0% 237 27.8% 0 - - - - NULL FAM13C 220965 genome.wustl.edu 37 10 61043243 61043243 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000442566 -1 known p.E201K 0.996 233 0.4% 172 31.4% 0 - benign(0.35) deleterious(0.05) neutral(0.456) NULL CCDC6 8030 genome.wustl.edu 37 10 61572397 61572397 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005436.3 -1 validated p.L281 0.998 261 0% 184 23.4% 1 0% - - - HMMPfam_DUF2046 ANK3 288 genome.wustl.edu 37 10 61832834 61832834 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020987.2 -1 reviewed p.L2602R 0.998 183 0% 232 15.1% 0 - probably_damaging(0.981) - - NULL TMEM26 219623 genome.wustl.edu 37 10 63170449 63170449 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178505.6 -1 validated p.F246L 0.956 77 0% 58 25.9% 0 - benign(0.001) tolerated(0.66) neutral(0.003) HMMPfam_Tmem26 ARID5B 84159 genome.wustl.edu 37 10 63845519 63845519 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032199.2 +1 validated p.I420V 1.000 721 0% 644 28.9% 0 - benign(0) tolerated(0.31) neutral(0.027) superfamily_ARID-like ARID5B 84159 genome.wustl.edu 37 10 63851571 63851571 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032199.2 +1 validated p.P783 0.322 286 0% 318 24.8% 1 100% - - - NULL RTKN2 219790 genome.wustl.edu 37 10 63958126 63958126 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145307.2 -1 provisional p.F457L 0.995 245 0% 218 20.6% 1 0% benign(0.008) tolerated(0.29) neutral(0.029) NULL JMJD1C 221037 genome.wustl.edu 37 10 64949050 64949050 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032776.1 -1 validated p.N2150H 0.002 265 0% 178 37.6% 1 100% benign(0.257) deleterious(0.01) neutral(0.432) NULL LRRTM3 347731 genome.wustl.edu 37 10 68687469 68687469 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178011.3 +1 validated p.I265 0.545 363 0% 224 23.7% 0 - - - - HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like LRRTM3 347731 genome.wustl.edu 37 10 68857440 68857440 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178011.3 +1 validated p.S544 1.000 226 0% 288 27.8% 0 - - - - NULL CTNNA3 29119 genome.wustl.edu 37 10 69366751 69366751 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127384.1 -1 validated p.S52 0.242 262 0% 294 23.1% 0 - - - - HMMPfam_Vinculin SIRT1 23411 genome.wustl.edu 37 10 69672431 69672431 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142498.1 +1 reviewed p.E225* 1.000 123 0% 114 30.7% 2 0% - - - NULL PBLD 64081 genome.wustl.edu 37 10 70045062 70045062 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001033083.1 -1 validated p.S266L 0.000 116 0% 104 14.4% 0 - unknown(0) deleterious(0.02) - superfamily_Diaminopimelate epimerase-like TET1 80312 genome.wustl.edu 37 10 70333495 70333495 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030625.2 +1 validated p.Q467P 0.000 94 0% 133 12% 0 - benign(0.004) tolerated(1) - NULL CCAR1 55749 genome.wustl.edu 37 10 70549564 70549564 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018237.2 +1 validated p.E1095D 0.998 73 0% 97 33% 6 50% benign(0.264) tolerated(0.38) neutral(0.045) NULL STOX1 219736 genome.wustl.edu 37 10 70645763 70645763 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130161.2 +1 reviewed p.L737 1.000 162 0% 129 11.6% 7 57.1% - - - NULL STOX1 219736 genome.wustl.edu 37 10 70652406 70652406 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130161.2 +1 reviewed p.F962V 1.000 124 0% 113 28.3% 7 100% possibly_damaging(0.658) deleterious(0.01) deleterious(0.638) NULL DDX50 79009 genome.wustl.edu 37 10 70666524 70666524 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024045.1 +1 reviewed p.E49* 1.000 274 0% 214 29% 1 100% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DDX50 79009 genome.wustl.edu 37 10 70695814 70695814 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024045.1 +1 reviewed p.S525Y 1.000 93 0% 127 26.8% 14 21.4% possibly_damaging(0.95) deleterious(0) deleterious(0.838) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX21 9188 genome.wustl.edu 37 10 70723156 70723156 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004728.2 +1 reviewed p.S239 1.000 136 0% 119 33.6% 3 66.6% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases KIAA1279 26128 genome.wustl.edu 37 10 70748592 70748592 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015634.3 +1 reviewed p.A2T 1.000 53 0% 49 34.7% 4 50% possibly_damaging(0.677) tolerated(0.05) deleterious(0.587) NULL SUPV3L1 6832 genome.wustl.edu 37 10 70949113 70949113 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003171.3 +1 provisional p.Y221* 1.000 150 0% 173 22.5% 0 - - - - superfamily_SSF52540 HKDC1 80201 genome.wustl.edu 37 10 70992818 70992818 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025130.3 +1 validated p.D142Y 0.089 91 0% 70 22.9% 0 - benign(0.007) deleterious(0.02) neutral(0.383) HMMPfam_Hexokinase_1,superfamily_Actin-like ATPase domain HKDC1 80201 genome.wustl.edu 37 10 71005961 71005961 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025130.3 +1 validated p.I334 0.638 103 0% 83 28.9% 1 100% - - - HMMPfam_Hexokinase_2,superfamily_Actin-like ATPase domain KIAA1274 27143 genome.wustl.edu 37 10 72324140 72324140 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000426268 +1 known p.A142T 1.000 34 0% 44 31.8% 34 55.8% - - - NULL ADAMTS14 140766 genome.wustl.edu 37 10 72489089 72489089 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139155.2 +1 reviewed p.I304V 1.000 76 0% 70 25.7% 0 - benign(0.012) tolerated(0.81) neutral(0.001) HMMPfam_Reprolysin,superfamily_SSF55486 SLC29A3 55315 genome.wustl.edu 37 10 73121791 73121791 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000373189 +1 known p.S285L 0.000 103 0% 131 36.6% 1 0% benign(0) tolerated(0.28) neutral(0.032) HMMPfam_Nucleoside_tran MICU1 10367 genome.wustl.edu 37 10 74326518 74326518 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006077.2 -1 validated p.E12* 1.000 61 0% 82 19.5% 13 46.1% - - - NULL ECD 11319 genome.wustl.edu 37 10 74908049 74908049 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135752.1 -1 validated p.K342N 0.944 119 0% 144 29.2% 10 30% possibly_damaging(0.659) tolerated(0.1) deleterious(0.519) HMMPfam_SGT1 TTC18 118491 genome.wustl.edu 37 10 75114497 75114497 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145170.3 -1 validated p.D20N 1.000 102 0% 105 35.2% 0 - benign(0.023) tolerated(0.51) neutral(0.010) NULL USP54 159195 genome.wustl.edu 37 10 75276232 75276232 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152586.3 -1 provisional p.E1318K 1.000 97 0% 120 32.5% 4 50% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL MYOZ1 58529 genome.wustl.edu 37 10 75399715 75399715 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021245.2 -1 provisional p.E21K 1.000 102 0% 159 23.9% 0 - benign(0.195) tolerated(0.12) neutral(0.279) HMMPfam_Calsarcin SYNPO2L 79933 genome.wustl.edu 37 10 75406933 75406933 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001114133.1 -1 validated p.R826Q 0.711 49 0% 58 22.4% 0 - probably_damaging(0.956) tolerated(0.45) neutral(0.412) NULL SYNPO2L 79933 genome.wustl.edu 37 10 75407664 75407664 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001114133.1 -1 validated p.I582 0.972 37 0% 41 9.8% 0 - - - - NULL SEC24C 9632 genome.wustl.edu 37 10 75525238 75525238 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004922.2 +1 reviewed p.E419D 1.000 67 0% 161 24.8% 9 33.3% possibly_damaging(0.797) tolerated(0.21) neutral(0.343) superfamily_Zn-finger domain of Sec23/24,superfamily_beta-sandwich domain of Sec23/24 ADK 132 genome.wustl.edu 37 10 76153931 76153931 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006721.2 +1 reviewed p.T102 0.669 348 0.3% 240 26.3% 5 0% - - - HMMPfam_PfkB,superfamily_Ribokinase-like DUSP13 51207 genome.wustl.edu 37 10 76857554 76857554 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001007273.1 -1 reviewed p.S123L 0.597 18 0% 26 42.3% 0 - benign(0.033) deleterious(0.05) neutral(0.347) NULL SAMD8 142891 genome.wustl.edu 37 10 76910713 76910713 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144660.2 +1 validated p.R143* 0.332 139 0% 173 23.7% 0 - - - - NULL KCNMA1 3778 genome.wustl.edu 37 10 78778781 78778781 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001014797.2 -1 reviewed p.E673* 1.000 85 0% 71 32.4% 0 - - - - NULL KCNMA1 3778 genome.wustl.edu 37 10 79010953 79010953 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001014797.2 -1 reviewed p.N201T 1.000 96 0% 95 23.2% 0 - benign(0) tolerated(0.1) neutral(0.286) superfamily_Voltage-gated potassium channels POLR3A 11128 genome.wustl.edu 37 10 79743720 79743720 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007055.3 -1 validated p.L1129 0.490 69 0% 67 22.4% 0 - - - - HMMPfam_RNA_pol_Rpb1_5,superfamily_SSF64484 FAM22B 729262 genome.wustl.edu 37 10 81463739 81463739 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000429828 +1 known p.S125L 0.047 143 0% 102 19.6% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL NRG3 10718 genome.wustl.edu 37 10 84745221 84745221 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010848.3 +1 reviewed p.E651K 1.000 155 0% 98 18.4% 0 - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL CDHR1 92211 genome.wustl.edu 37 10 85956268 85956268 + Silent SNP C C T rs12781048 byCluster;byFrequency;by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033100.2 +1 reviewed p.H53 0.068 150 0% 104 35.6% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like CDHR1 92211 genome.wustl.edu 37 10 85972925 85972925 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033100.2 +1 reviewed p.D621N 1.000 163 0% 186 31.7% 2 100% probably_damaging(0.997) tolerated(0.23) deleterious(0.508) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like LRIT2 340745 genome.wustl.edu 37 10 85984799 85984799 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001017924.2 -1 validated p.R61I 1.000 223 0% 166 34.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52058 WAPAL 23063 genome.wustl.edu 37 10 88260094 88260094 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015045.2 -1 validated p.T302 0.800 400 0% 292 28.1% 1 100% - - - NULL BMPR1A 657 genome.wustl.edu 37 10 88672088 88672088 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004329.2 +1 reviewed p.D208Y 1.000 96 0% 115 28.7% 4 25% possibly_damaging(0.718) deleterious(0) deleterious(0.705) HMMPfam_TGF_beta_GS,HMMSmart_GS,superfamily_Kinase_like FAM35A 54537 genome.wustl.edu 37 10 88911985 88911985 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019054.2 +1 validated p.Q292K 0.000 198 0% 246 20.3% 0 - benign(0.025) tolerated(0.18) neutral(0.057) NULL FAM35A 54537 genome.wustl.edu 37 10 88912240 88912240 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019054.2 +1 validated p.K377Q 0.022 271 0% 294 22.4% 2 0% probably_damaging(0.992) tolerated(0.32) deleterious(0.472) NULL FAM35A 54537 genome.wustl.edu 37 10 88939925 88939925 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019054.2 +1 validated p.S686I 0.003 359 0% 282 31.9% 3 33.3% possibly_damaging(0.731) deleterious(0.03) deleterious(0.631) NULL ATAD1 84896 genome.wustl.edu 37 10 89514551 89514551 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032810.2 -1 provisional p.E327* 1.000 68 0% 68 23.5% 15 26.6% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A rs121913292 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000371953 +1 known p.R130Q 1.000 374 0% 342 32.7% 17 29.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89711983 89711983 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000371953 +1 known p.E201* 1.000 446 0% 407 34.2% 12 8.3% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 PTEN 5728 genome.wustl.edu 37 10 89720749 89720749 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000371953 +1 known p.I300 1.000 362 0% 323 26.6% 7 0% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 LIPN 643418 genome.wustl.edu 37 10 90524354 90524354 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001102469.1 +1 validated p.F138L 1.000 169 0% 161 19.3% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Abhydrolase_1,superfamily_SSF53474 STAMBPL1 57559 genome.wustl.edu 37 10 90676453 90676453 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020799.2 +1 provisional p.T307N 0.993 220 0% 210 31.4% 0 - probably_damaging(0.993) tolerated(0.28) deleterious(0.482) HMMPfam_Mov34,HMMSmart_SM00232,superfamily_JAB1/MPN domain FAS 355 genome.wustl.edu 37 10 90762944 90762944 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000043.3 +1 reviewed p.C63 0.932 101 0% 79 25.3% 16 50% - - - HMMSmart_SM00208,superfamily_TNF receptor-like LIPA 3988 genome.wustl.edu 37 10 90983450 90983450 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000235.2 -1 reviewed p.N271K 0.998 254 0% 263 22.1% 3 33.3% unknown(0) - - HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases SLC16A12 387700 genome.wustl.edu 37 10 91198761 91198761 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_213606.3 -1 validated p.L180I 1.000 208 0.5% 189 21.7% 0 - probably_damaging(1) tolerated(0.4) deleterious(0.516) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter KIF20B 9585 genome.wustl.edu 37 10 91468996 91468996 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016195.2 +1 validated p.E74* 1.000 173 0% 182 32.4% 0 - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF20B 9585 genome.wustl.edu 37 10 91497373 91497373 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016195.2 +1 validated p.K885N 0.234 232 0% 146 24.7% 0 - benign(0) tolerated(0.07) neutral(0.319) NULL KIF20B 9585 genome.wustl.edu 37 10 91533786 91533786 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016195.2 +1 validated p.R1775Q 0.851 204 0% 281 32.4% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ANKRD1 27063 genome.wustl.edu 37 10 92679017 92679017 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014391.2 -1 reviewed p.K72N 1.000 113 0% 89 30.3% 0 - benign(0.023) tolerated(0.06) neutral(0.324) superfamily_ANK PCGF5 84333 genome.wustl.edu 37 10 93038067 93038067 + Silent SNP C C T rs191746944 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032373.3 +1 provisional p.F255 0.653 209 0% 111 27% 2 50% - - - NULL HECTD2 143279 genome.wustl.edu 37 10 93221064 93221064 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182765.3 +1 validated p.F154C 1.000 379 0.3% 399 26.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL IDE 3416 genome.wustl.edu 37 10 94247044 94247044 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004969.3 -1 reviewed p.F522C 1.000 155 0% 166 34.9% 3 33.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL HHEX 3087 genome.wustl.edu 37 10 94454328 94454328 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002729.4 +1 reviewed p.E206* 1.000 120 0% 92 20.7% 1 0% - - - NULL EXOC6 54536 genome.wustl.edu 37 10 94653276 94653276 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019053.4 +1 reviewed p.K91T 1.000 466 0% 379 21.6% 0 - benign(0.031) deleterious(0.03) neutral(0.366) NULL EXOC6 54536 genome.wustl.edu 37 10 94669348 94669348 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019053.4 +1 reviewed p.R208Q 1.000 301 0% 214 64% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL EXOC6 54536 genome.wustl.edu 37 10 94714486 94714486 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019053.4 +1 reviewed p.I542M 0.984 138 0% 142 12% 2 0% possibly_damaging(0.789) deleterious(0.02) deleterious(0.679) HMMPfam_Sec15 MYOF 26509 genome.wustl.edu 37 10 95147624 95147624 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013451.3 -1 reviewed p.T543I 1.000 372 0% 319 24.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CEP55 55165 genome.wustl.edu 37 10 95275259 95275259 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127182.1 +1 validated p.T209M 0.024 238 0% 234 24.4% 3 0% benign(0.389) deleterious(0.05) deleterious(0.470) NULL PDE6C 5146 genome.wustl.edu 37 10 95394584 95394584 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006204.3 +1 reviewed p.E397* 1.000 201 0% 158 22.2% 0 - - - - HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF55781 PDE6C 5146 genome.wustl.edu 37 10 95399952 95399952 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006204.3 +1 reviewed p.E536D 1.000 319 0% 295 23.4% 0 - benign(0.001) tolerated(0.33) neutral(0.024) superfamily_SSF109604 PDE6C 5146 genome.wustl.edu 37 10 95400207 95400207 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006204.3 +1 reviewed p.V544I 1.000 314 0% 288 29.9% 0 - possibly_damaging(0.886) deleterious(0.05) deleterious(0.692) superfamily_SSF109604 PDE6C 5146 genome.wustl.edu 37 10 95400718 95400718 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006204.3 +1 reviewed p.F593L 0.998 197 0% 153 34.6% 0 - benign(0.032) tolerated(1) neutral(0.002) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 LGI1 9211 genome.wustl.edu 37 10 95557262 95557262 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005097.2 +1 reviewed p.K459T 1.000 142 0% 123 23.6% 0 - possibly_damaging(0.929) deleterious(0) deleterious(0.821) HMMPfam_EPTP LGI1 9211 genome.wustl.edu 37 10 95557407 95557407 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005097.2 +1 reviewed p.E507D 0.950 206 0% 157 23.6% 0 - benign(0.122) tolerated(0.42) neutral(0.024) NULL PLCE1 51196 genome.wustl.edu 37 10 95790940 95790940 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016341.3 +1 reviewed p.R46Q 0.000 289 0% 222 33.8% 0 - benign(0) tolerated(1) - NULL PLCE1 51196 genome.wustl.edu 37 10 95848918 95848918 + Missense_Mutation SNP G G A rs144179807 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000371375 +1 known p.V23M 1.000 138 0% 117 27.4% 0 - possibly_damaging(0.449) - - NULL PLCE1 51196 genome.wustl.edu 37 10 95993816 95993816 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016341.3 +1 reviewed p.R654I 1.000 100 0% 68 35.3% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF PLCE1 51196 genome.wustl.edu 37 10 96039634 96039634 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016341.3 +1 reviewed p.D1587 0.999 132 0% 117 27.4% 3 100% - - - superfamily_PLC-like phosphodiesterases PLCE1 51196 genome.wustl.edu 37 10 96068403 96068403 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016341.3 +1 reviewed p.N1984H 0.998 207 0% 219 26.9% 0 - probably_damaging(0.96) tolerated(0.4) neutral(0.419) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PLCE1 51196 genome.wustl.edu 37 10 96081726 96081726 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016341.3 +1 reviewed p.F2137L 1.000 82 0% 85 23.5% 13 7.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RA,HMMSmart_SM00314 NOC3L 64318 genome.wustl.edu 37 10 96121506 96121506 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022451.9 -1 provisional p.E45* 1.000 257 0% 293 33.8% 0 - - - - NULL CYP2C8 1558 genome.wustl.edu 37 10 96824600 96824600 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000770.3 -1 reviewed p.R200I 0.000 225 0% 207 28% 0 - benign(0.002) tolerated(0.18) neutral(0.056) HMMPfam_p450,superfamily_Cytochrome_P450 C10orf129 142827 genome.wustl.edu 37 10 96970509 96970509 + Nonsense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207321.2 +1 validated p.Y238* 0.006 254 0% 251 34.7% 0 - - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like SORBS1 10580 genome.wustl.edu 37 10 97114661 97114661 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001034954.1 -1 validated p.R731Q 1.000 103 0% 71 29.6% 0 - probably_damaging(1) tolerated(0.29) deleterious(0.529) NULL SORBS1 10580 genome.wustl.edu 37 10 97135757 97135757 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001034954.1 -1 validated p.F570L 1.000 183 0% 161 26.7% 0 - probably_damaging(0.998) tolerated(0.21) deleterious(0.518) NULL SORBS1 10580 genome.wustl.edu 37 10 97192255 97192255 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001034954.1 -1 validated p.S84N 0.052 93 0% 101 31.7% 0 - benign(0.014) deleterious(0.05) neutral(0.346) NULL ENTPD1 953 genome.wustl.edu 37 10 97607350 97607350 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001776.5 +1 validated p.N321H 0.965 286 0% 238 25.6% 12 50% possibly_damaging(0.621) tolerated(0.05) deleterious(0.562) HMMPfam_GDA1_CD39 TLL2 7093 genome.wustl.edu 37 10 98133461 98133461 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012465.3 -1 validated p.G852S 1.000 73 0% 53 26.4% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB TLL2 7093 genome.wustl.edu 37 10 98138842 98138842 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012465.3 -1 validated p.D734 0.993 131 0% 144 22.2% 0 - - - - HMMSmart_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 TM9SF3 56889 genome.wustl.edu 37 10 98336521 98336521 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020123.3 -1 validated p.E56D 1.000 284 0% 306 31.4% 3 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_EMP70 LCOR 84458 genome.wustl.edu 37 10 98708916 98708916 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032440.3 +1 validated p.P34 1.000 276 0% 325 28.3% 0 - - - - NULL C10orf12 26148 genome.wustl.edu 37 10 98743206 98743206 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015652.2 +1 predicted p.E687K 0.000 124 0% 126 20.6% 2 100% possibly_damaging(0.571) tolerated(0.28) neutral(0.227) NULL SLIT1 6585 genome.wustl.edu 37 10 98806769 98806769 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003061.2 -1 validated p.K563T 1.000 40 0% 35 25.7% 0 - benign(0.076) tolerated(0.13) neutral(0.258) superfamily_L domain-like ANKRD2 26287 genome.wustl.edu 37 10 99342384 99342384 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020349.2 +1 validated p.D286 0.827 105 0% 86 29.1% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat C10orf62 414157 genome.wustl.edu 37 10 99350194 99350194 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001009997.2 +1 validated p.K180N 0.020 85 0% 99 19.2% 0 - benign(0.001) tolerated(0.26) neutral(0.034) NULL C10orf28 27291 genome.wustl.edu 37 10 99991407 99991407 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014472.4 +1 validated p.H642Y 1.000 282 0.4% 287 35.9% 0 - benign(0) deleterious(0.01) neutral(0.406) NULL PYROXD2 84795 genome.wustl.edu 37 10 100159990 100159990 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032709.2 -1 validated p.R114* 1.000 27 0% 22 27.3% 3 0% - - - superfamily_SSF51905 HPSE2 60495 genome.wustl.edu 37 10 100242490 100242490 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021828.4 -1 reviewed p.R506* 1.000 296 0% 345 28.1% 0 - - - - NULL ENTPD7 57089 genome.wustl.edu 37 10 101448494 101448494 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020354.3 +1 validated p.F232 0.921 462 0% 400 35% 0 - - - - HMMPfam_GDA1_CD39 CUTC 51076 genome.wustl.edu 37 10 101503026 101503026 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015960.2 +1 validated p.R104C 1.000 162 0% 214 13.6% 31 6.4% benign(0.014) deleterious(0.02) neutral(0.384) HMMPfam_CutC,superfamily_CutC-like (Pfam 03932) CUTC 51076 genome.wustl.edu 37 10 101503797 101503797 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015960.2 +1 validated p.I136S 0.944 77 0% 103 22.3% 35 45.7% benign(0.094) tolerated(0.29) neutral(0.036) HMMPfam_CutC,superfamily_CutC-like (Pfam 03932) ABCC2 1244 genome.wustl.edu 37 10 101553386 101553386 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000392.3 +1 reviewed p.L138F 1.000 151 0% 154 36.4% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ABCC2 1244 genome.wustl.edu 37 10 101553752 101553752 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000392.3 +1 reviewed p.S191* 0.946 118 0% 126 26.2% 0 - - - - NULL ABCC2 1244 genome.wustl.edu 37 10 101559008 101559008 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000392.3 +1 reviewed p.D304E 0.962 552 0% 661 26% 0 - benign(0.317) tolerated(0.96) neutral(0.099) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC2 1244 genome.wustl.edu 37 10 101567902 101567902 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000392.3 +1 reviewed p.Q577H 0.913 234 0% 213 31% 1 100% possibly_damaging(0.862) deleterious(0.02) deleterious(0.716) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC2 1244 genome.wustl.edu 37 10 101594172 101594172 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000392.3 +1 reviewed p.S1098 0.879 148 0% 165 32.1% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain DNMBP 23268 genome.wustl.edu 37 10 101640056 101640056 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015221.2 -1 validated p.D1354N 0.998 79 0% 70 30% 11 63.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SH3-domain DNMBP 23268 genome.wustl.edu 37 10 101716260 101716260 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015221.2 -1 validated p.S324Y 0.002 168 0% 212 38.2% 1 0% possibly_damaging(0.708) tolerated(0.17) neutral(0.315) NULL DNMBP 23268 genome.wustl.edu 37 10 101716662 101716662 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015221.2 -1 validated p.R190Q 1.000 285 0% 277 34.7% 0 - possibly_damaging(0.679) deleterious(0.03) deleterious(0.607) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain CHUK 1147 genome.wustl.edu 37 10 101969506 101969506 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001278.3 -1 reviewed p.S325Y 1.000 123 0% 114 27.2% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_Protein kinase-like (PK-like) PKD2L1 9033 genome.wustl.edu 37 10 102059425 102059425 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016112.2 -1 reviewed p.S134P 1.000 155 0% 230 30.4% 0 - probably_damaging(0.957) deleterious(0.01) deleterious(0.806) NULL WNT8B 7479 genome.wustl.edu 37 10 102240838 102240838 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003393.3 +1 reviewed p.F109V 1.000 156 0% 174 29.9% 0 - benign(0.086) tolerated(0.11) neutral(0.278) HMMPfam_wnt,HMMSmart_WNT1 SEC31B 25956 genome.wustl.edu 37 10 102269199 102269199 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015490.3 -1 reviewed p.G91 0.998 80 0% 76 23.7% 1 0% - - - superfamily_WD40 repeat-like FAM178A 55719 genome.wustl.edu 37 10 102685862 102685862 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000370271 +1 known p.H710N 0.000 46 0% 35 25.7% 0 - unknown(0) - - NULL BTRC 8945 genome.wustl.edu 37 10 103291047 103291047 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033637.2 +1 reviewed p.S266Y 1.000 254 0% 289 35.3% 0 - possibly_damaging(0.713) tolerated(0.16) neutral(0.317) superfamily_F-box domain PPRC1 23082 genome.wustl.edu 37 10 103901697 103901697 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015062.3 +1 reviewed p.S1144 0.240 42 0% 58 12.1% 16 18.7% - - - NULL NOLC1 9221 genome.wustl.edu 37 10 103920363 103920363 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004741.3 +1 validated p.T418 0.001 111 0% 103 38.8% 37 32.4% - - - NULL NFKB2 4791 genome.wustl.edu 37 10 104160067 104160067 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001077494.1 +1 validated p.Q539 0.963 72 0% 71 40.8% 265 52.8% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat LOC100289608 100289608 genome.wustl.edu 37 10 104605688 104605688 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343032.1 +1 model p.K37T 0.987 90 0% 113 11.5% 1 0% - - - NULL CNNM2 54805 genome.wustl.edu 37 10 104816706 104816706 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017649.3 +1 validated p.F686 1.000 411 0% 377 26.8% 0 - - - - NULL PDCD11 22984 genome.wustl.edu 37 10 105200186 105200186 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014976.1 +1 validated p.K1430Q 0.001 119 0% 97 28.9% 7 57.1% benign(0.259) tolerated(0.59) neutral(0.032) NULL SH3PXD2A 9644 genome.wustl.edu 37 10 105362581 105362581 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000420222 -1 known p.G725* 1.000 100 0% 110 31.8% 2 0% probably_damaging(0.987) tolerated(0.14) deleterious(0.686) NULL SLK 9748 genome.wustl.edu 37 10 105763002 105763002 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014720.2 +1 provisional p.S689* 0.104 252 0% 231 32% 1 0% - - - superfamily_Protein kinase-like (PK-like) COL17A1 1308 genome.wustl.edu 37 10 105831820 105831820 + Nonsense_Mutation SNP G G A rs121912774 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000494.3 -1 reviewed p.R145* 1.000 77 0% 61 31.1% 0 - - - - NULL SFR1 119392 genome.wustl.edu 37 10 105882837 105882837 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001002759.1 +1 validated p.R43Q 0.606 208 0.5% 170 27.1% 2 0% possibly_damaging(0.559) tolerated(0.55) neutral(0.198) HMMPfam_Mei5 CCDC147 159686 genome.wustl.edu 37 10 106207464 106207464 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008723.1 +1 validated p.E755D 1.000 109 0% 100 31% 0 - probably_damaging(0.993) tolerated(0.08) deleterious(0.750) NULL SORCS1 114815 genome.wustl.edu 37 10 108337011 108337011 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013031.1 -1 reviewed p.T1189A 1.000 269 0% 219 26.5% 0 - possibly_damaging(0.647) deleterious(0.03) deleterious(0.592) NULL SORCS1 114815 genome.wustl.edu 37 10 108521351 108521351 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013031.1 -1 reviewed p.F318 0.989 197 0% 140 23.6% 0 - - - - HMMSmart_VPS10,superfamily_SSF110296 XPNPEP1 7511 genome.wustl.edu 37 10 111667493 111667493 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020383.3 -1 reviewed p.E25K 1.000 214 0% 252 27.4% 11 9% benign(0.004) tolerated(0.55) neutral(0.007) NULL ADD3 120 genome.wustl.edu 37 10 111879001 111879001 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016824.3 +1 reviewed p.I250M 1.000 236 0% 230 35.7% 11 27.2% probably_damaging(0.989) tolerated(0.08) deleterious(0.740) HMMPfam_Aldolase_II,superfamily_AraD-like aldolase/epimerase SHOC2 8036 genome.wustl.edu 37 10 112724366 112724366 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007373.3 +1 reviewed p.K84Q 1.000 355 0% 222 25.7% 0 - possibly_damaging(0.917) tolerated(0.23) neutral(0.409) superfamily_L domain-like SHOC2 8036 genome.wustl.edu 37 10 112767343 112767343 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007373.3 +1 reviewed p.E406* 1.000 201 0% 159 28.9% 5 20% - - - HMMSmart_SM00369,superfamily_L domain-like TCF7L2 6934 genome.wustl.edu 37 10 114925397 114925397 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030756.4 +1 reviewed p.S486L 1.000 129 0% 194 28.4% 14 35.7% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL NRAP 4892 genome.wustl.edu 37 10 115401186 115401186 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198060.2 -1 validated p.E421* 1.000 179 0% 136 28.7% 0 - - - - HMMSmart_SM00227 DCLRE1A 9937 genome.wustl.edu 37 10 115612808 115612808 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014881.3 -1 provisional p.S45* 0.254 291 0% 227 20.7% 0 - - - - NULL NHLRC2 374354 genome.wustl.edu 37 10 115639384 115639384 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198514.2 +1 provisional p.S280Y 1.000 130 0% 171 32.2% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_NHL,superfamily_NHL repeat NHLRC2 374354 genome.wustl.edu 37 10 115662233 115662233 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198514.2 +1 provisional p.L459V 1.000 399 0% 271 24% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_NHL repeat C10orf118 55088 genome.wustl.edu 37 10 115885670 115885670 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018017.2 -1 validated p.T863M 1.000 117 0% 116 25.9% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL C10orf118 55088 genome.wustl.edu 37 10 115887322 115887322 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018017.2 -1 validated p.R764I 1.000 102 0% 116 34.5% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ABLIM1 3983 genome.wustl.edu 37 10 116200819 116200819 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000392955 -1 known p.S546L 0.996 10 0% 18 22.2% 13 30.7% - - - NULL ABLIM1 3983 genome.wustl.edu 37 10 116251562 116251562 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002313.5 -1 reviewed p.M324L 1.000 184 0% 187 29.4% 12 50% possibly_damaging(0.871) deleterious(0.05) deleterious(0.684) HMMPfam_LIM,HMMSmart_SM00132 ATRNL1 26033 genome.wustl.edu 37 10 117001450 117001450 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207303.2 +1 validated p.H541 1.000 144 0% 107 16.8% 0 - - - - HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain ATRNL1 26033 genome.wustl.edu 37 10 117093929 117093929 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207303.2 +1 validated p.A1059T 1.000 238 0% 149 17.4% 0 - possibly_damaging(0.803) tolerated(0.08) deleterious(0.603) PatternScan_EGF_LAM_1,superfamily_EGF/Laminin ATRNL1 26033 genome.wustl.edu 37 10 117278829 117278829 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207303.2 +1 validated p.F1237L 1.000 110 0% 73 17.8% 0 - possibly_damaging(0.889) deleterious(0) deleterious(0.794) NULL GFRA1 2674 genome.wustl.edu 37 10 117824034 117824034 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005264.4 -1 reviewed p.L425I 0.300 93 0% 79 17.7% 1 0% benign(0.026) tolerated(0.13) neutral(0.254) NULL C10orf96 374355 genome.wustl.edu 37 10 118138853 118138853 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198515.2 +1 validated p.L254I 0.999 67 0% 71 25.4% 0 - possibly_damaging(0.778) tolerated(0.54) neutral(0.298) NULL PNLIPRP3 119548 genome.wustl.edu 37 10 118220594 118220594 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001011709.2 +1 validated p.L228F 0.002 231 0% 105 24.8% 0 - benign(0.001) tolerated(0.06) neutral(0.323) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases KIAA1598 57698 genome.wustl.edu 37 10 118680973 118680973 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127211.1 -1 validated p.K389N 1.000 120 0% 104 21.2% 14 28.5% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) NULL VAX1 11023 genome.wustl.edu 37 10 118891790 118891790 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_199131.2 -1 reviewed p.R164M 0.001 66 0% 71 31% 0 - unknown(0) deleterious(0.01) - NULL KCNK18 338567 genome.wustl.edu 37 10 118969585 118969585 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181840.1 +1 provisional p.F310 0.293 124 0% 124 58.9% 0 - - - - HMMPfam_Ion_trans_2,superfamily_SSF81324 SLC18A2 6571 genome.wustl.edu 37 10 119003745 119003745 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003054.4 +1 reviewed p.V129M 1.000 52 0% 57 29.8% 0 - possibly_damaging(0.747) tolerated(0.08) deleterious(0.574) HMMPfam_MFS_1,superfamily_MFS general substrate transporter PDZD8 118987 genome.wustl.edu 37 10 119049715 119049715 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173791.3 -1 provisional p.R415* 1.000 202 0% 147 32% 10 80% - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ RAB11FIP2 22841 genome.wustl.edu 37 10 119798665 119798665 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014904.2 -1 validated p.E361 1.000 272 0% 278 23.4% 0 - - - - NULL EIF3A 8661 genome.wustl.edu 37 10 120825029 120825029 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003750.2 -1 validated p.R335H 1.000 104 0% 104 23.1% 10 40% unknown(0) tolerated(0.55) - NULL GRK5 2869 genome.wustl.edu 37 10 121212755 121212755 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005308.2 +1 reviewed p.K547N 1.000 47 0% 59 18.6% 3 0% probably_damaging(0.99) tolerated(0.08) deleterious(0.742) NULL GRK5 2869 genome.wustl.edu 37 10 121214503 121214503 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005308.2 +1 reviewed p.S566L 0.993 25 0% 35 34.3% 3 0% unknown(0) tolerated(0.24) - NULL INPP5F 22876 genome.wustl.edu 37 10 121551404 121551404 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014937.2 +1 reviewed p.E156D 1.000 123 0% 124 26.6% 1 100% possibly_damaging(0.47) tolerated(0.58) neutral(0.160) HMMPfam_Syja_N WDR11 55717 genome.wustl.edu 37 10 122619707 122619707 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018117.11 +1 reviewed p.D147N 1.000 110 0% 126 25.4% 2 50% probably_damaging(0.982) tolerated(0.5) neutral(0.436) superfamily_WD40_like ARMS2 387715 genome.wustl.edu 37 10 124214438 124214438 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099667.1 +1 reviewed p.M65I 0.001 53 0% 43 30.2% 0 - benign(0.002) - - NULL DMBT1 1755 genome.wustl.edu 37 10 124339319 124339319 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007329.2 +1 reviewed p.R302H 0.001 217 0% 209 18.2% 0 - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like DMBT1 1755 genome.wustl.edu 37 10 124343857 124343857 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007329.2 +1 reviewed p.T470 0.000 318 0% 306 6.2% 0 - - - - superfamily_SRCR-like DMBT1 1755 genome.wustl.edu 37 10 124348593 124348593 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007329.2 +1 reviewed p.V639 0.866 332 0% 342 21.3% 0 - - - - HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like DMBT1 1755 genome.wustl.edu 37 10 124380756 124380756 + Missense_Mutation SNP G G A rs111726992 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007329.2 +1 reviewed p.R1694Q 0.053 241 0% 186 24.2% 0 - probably_damaging(0.963) tolerated(0.3) neutral(0.434) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like DMBT1 1755 genome.wustl.edu 37 10 124389947 124389947 + Missense_Mutation SNP G G A rs7099177 byCluster;byFrequency;by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007329.2 +1 reviewed p.R1860Q 0.038 106 0% 120 35% 0 - probably_damaging(0.99) tolerated(0.14) deleterious(0.691) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUZD1 50624 genome.wustl.edu 37 10 124596456 124596456 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022034.4 -1 provisional p.F236 0.005 85 0% 115 36.5% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain C10orf88 80007 genome.wustl.edu 37 10 124697414 124697414 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024942.3 -1 validated p.L304F 0.011 261 0% 270 31.5% 1 0% possibly_damaging(0.808) tolerated(0.07) deleterious(0.623) NULL ACADSB 36 genome.wustl.edu 37 10 124800006 124800006 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001609.3 +1 reviewed p.E110* 0.756 126 0% 107 25.2% 0 - - - - HMMPfam_Acyl-CoA_dh_N,superfamily_Acyl-CoA dehydrogenase NM domain-like ACADSB 36 genome.wustl.edu 37 10 124802675 124802675 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001609.3 +1 reviewed p.F265 1.000 125 0% 108 26.9% 0 - - - - superfamily_Acyl-CoA dehydrogenase NM domain-like ACADSB 36 genome.wustl.edu 37 10 124813266 124813266 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001609.3 +1 reviewed p.I428 0.003 145 0% 120 15% 3 0% - - - HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like FAM53B 9679 genome.wustl.edu 37 10 126311817 126311817 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014661.3 -1 validated p.K421N 1.000 30 0% 11 54.5% 0 - benign(0) tolerated(0.66) neutral(0.003) NULL METTL10 399818 genome.wustl.edu 37 10 126463270 126463270 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000368836 -1 known p.E125* 1.000 90 0% 84 26.2% 0 - - - - HMMPfam_Methyltransf_11,superfamily_SSF53335 C10orf90 118611 genome.wustl.edu 37 10 128209882 128209882 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004298.2 -1 validated p.K3T 0.000 89 0% 61 26.2% 0 - benign(0.102) deleterious(0) neutral(0.453) NULL DOCK1 1793 genome.wustl.edu 37 10 128768998 128768998 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000398025 +1 known p.E27* 1.000 75 0% 115 23.5% 0 - - - - HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 DOCK1 1793 genome.wustl.edu 37 10 128798503 128798503 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000398025 +1 known p.R306H 0.994 166 0% 137 28.5% 0 - benign(0.157) tolerated(0.22) neutral(0.056) NULL FAM196A 642938 genome.wustl.edu 37 10 128974463 128974463 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039762.2 -1 validated p.S66L 0.013 45 0% 40 40% 1 100% benign(0.014) deleterious(0.02) neutral(0.384) NULL DOCK1 1793 genome.wustl.edu 37 10 129046280 129046280 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000398025 +1 known p.F997 0.744 59 0% 52 25% 2 0% - - - NULL CLRN3 119467 genome.wustl.edu 37 10 129676622 129676622 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152311.3 -1 validated p.E158K 0.000 67 0% 53 20.8% 1 100% benign(0.009) tolerated(0.22) neutral(0.043) NULL PTPRE 5791 genome.wustl.edu 37 10 129870476 129870476 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006504.4 +1 reviewed p.D488Y 1.000 50 0% 38 26.3% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II MKI67 4288 genome.wustl.edu 37 10 129902273 129902273 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002417.4 -1 reviewed p.E2611* 0.000 101 0% 161 29.8% 2 50% - - - HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129903567 129903567 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002417.4 -1 reviewed p.R2179 0.000 207 0% 331 33.8% 1 0% - - - HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129905089 129905089 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002417.4 -1 reviewed p.S1672I 0.000 297 0% 436 24.3% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129905848 129905848 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002417.4 -1 reviewed p.H1419P 0.000 360 0% 537 21.6% 0 - possibly_damaging(0.899) tolerated(0.32) neutral(0.380) HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129907286 129907286 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002417.4 -1 reviewed p.E940* 0.129 409 0.2% 549 29.3% 0 - - - - NULL GLRX3 10539 genome.wustl.edu 37 10 131969878 131969878 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006541.3 +1 provisional p.L268M 0.999 55 0% 75 16% 38 31.5% benign(0.008) tolerated(0.15) neutral(0.241) HMMPfam_Glutaredoxin,superfamily_Thiordxn-like_fd GLRX3 10539 genome.wustl.edu 37 10 131977615 131977615 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006541.3 +1 provisional p.E323* 1.000 186 0% 163 28.8% 55 18.1% - - - superfamily_Thiordxn-like_fd PPP2R2D 55844 genome.wustl.edu 37 10 133761248 133761248 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018461.3 +1 validated p.R313* 0.809 36 0% 32 37.5% 39 38.4% unknown(0) - - NULL BNIP3 664 genome.wustl.edu 37 10 133782057 133782057 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004052.2 -1 reviewed p.R186C 1.000 72 0% 24 20.8% 72 8.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BNIP3 KNDC1 85442 genome.wustl.edu 37 10 134981757 134981757 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152643.6 +1 validated e3-1 1.000 37 0% 51 9.8% 0 - - - - - MTG1 92170 genome.wustl.edu 37 10 135212692 135212692 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138384.2 +1 validated p.E128* 0.001 24 0% 23 17.4% 12 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SYCE1 93426 genome.wustl.edu 37 10 135371405 135371405 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001143764.1 -1 validated p.R113W 0.577 33 0% 47 38.3% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL FRG2B 441581 genome.wustl.edu 37 10 135440123 135440123 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080998.1 -1 provisional p.E42* 0.015 91 0% 83 18.1% 0 - - - - NULL PHRF1 57661 genome.wustl.edu 37 11 601669 601669 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020901.2 +1 validated p.R374* 0.013 26 0% 22 22.7% 4 0% - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1262666 1262666 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002458.1 +1 validated p.K1522T 0.000 22 0% 21 23.8% 16 62.5% benign(0.099) - - NULL MUC5B 727897 genome.wustl.edu 37 11 1271405 1271405 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002458.1 +1 validated p.A4435V 0.008 27 0% 42 28.6% 448 71.6% unknown(0) - - NULL TNNT3 7140 genome.wustl.edu 37 11 1953741 1953741 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006757.3 +1 reviewed p.F56 0.999 13 0% 21 42.9% 0 - - - - NULL ZNF195 7748 genome.wustl.edu 37 11 3380445 3380445 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130520.1 -1 validated p.R598I 1.000 682 0% 553 31.5% 4 25% possibly_damaging(0.476) tolerated(0.23) neutral(0.199) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF195 7748 genome.wustl.edu 37 11 3381468 3381468 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130520.1 -1 validated p.S257* 0.005 460 0% 410 25.4% 1 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF195 7748 genome.wustl.edu 37 11 3392255 3392255 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130520.1 -1 validated p.R59Q 0.000 414 0% 379 27.7% 8 25% probably_damaging(1) tolerated(0.34) deleterious(0.523) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) NUP98 4928 genome.wustl.edu 37 11 3774557 3774557 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016320.4 -1 reviewed p.G419E 1.000 143 0% 122 29.5% 2 50% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL STIM1 6786 genome.wustl.edu 37 11 4104508 4104508 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003156.3 +1 reviewed p.E418 0.998 134 0% 129 31.8% 32 37.5% - - - NULL TRIM21 6737 genome.wustl.edu 37 11 4409565 4409565 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003141.3 -1 reviewed p.R234* 0.008 350 0% 288 20.5% 17 0% - - - NULL TRIM21 6737 genome.wustl.edu 37 11 4411428 4411428 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003141.3 -1 reviewed p.N71S 0.925 170 0% 135 25.9% 21 52.3% probably_damaging(0.995) tolerated(0.06) deleterious(0.780) superfamily_SSF57850 OR51E2 81285 genome.wustl.edu 37 11 4703452 4703452 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030774.3 -1 validated p.R164W 0.002 123 0% 100 26% 0 - benign(0.265) deleterious(0.01) neutral(0.433) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51F1 256892 genome.wustl.edu 37 11 4790816 4790816 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004752.1 -1 provisional p.F111C 0.000 114 0% 126 27% 0 - benign(0.001) tolerated(0.19) neutral(0.050) HMMPfam_7tm_1,superfamily_SSF81321 OR52R1 119695 genome.wustl.edu 37 11 4824829 4824829 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005177.3 -1 validated p.S340Y 0.279 233 0% 279 28.7% 0 - possibly_damaging(0.437) deleterious(0) deleterious(0.587) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51A7 119687 genome.wustl.edu 37 11 4929190 4929190 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004749.1 +1 provisional p.I197 0.893 348 0% 317 30% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR51A4 401666 genome.wustl.edu 37 11 4967960 4967960 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005329.1 -1 provisional p.R124I 0.158 788 0.1% 632 22.8% 0 - possibly_damaging(0.772) deleterious(0) deleterious(0.732) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR52J3 119679 genome.wustl.edu 37 11 5068656 5068656 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001916.2 +1 validated p.R301* 0.001 236 0.4% 185 16.8% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR52E2 119678 genome.wustl.edu 37 11 5080032 5080032 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005164.2 -1 validated p.L276I 0.062 225 0% 181 18.8% 0 - probably_damaging(0.998) tolerated(0.25) deleterious(0.511) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52A4 390053 genome.wustl.edu 37 11 5142203 5142203 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005222.2 -1 validated p.V202 0.711 316 0% 309 31.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR52A4 390053 genome.wustl.edu 37 11 5142325 5142325 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005222.2 -1 validated p.P162T 0.090 276 0% 279 29.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR51V1 283111 genome.wustl.edu 37 11 5220990 5220990 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004760.2 -1 validated p.R314I 0.022 189 0% 94 26.6% 0 - possibly_damaging(0.76) deleterious(0.01) deleterious(0.687) superfamily_Family A G protein-coupled receptor-like OR51B6 390058 genome.wustl.edu 37 11 5373312 5373312 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004750.1 +1 provisional p.F192S 1.000 311 0.6% 253 22.9% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_7tm_1,superfamily_SSF81321 OR51I1 390063 genome.wustl.edu 37 11 5462628 5462628 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005288.2 -1 validated p.I39 0.017 257 0% 255 25.5% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR51I2 390064 genome.wustl.edu 37 11 5475300 5475300 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004754.2 +1 validated p.I194 0.833 233 0% 229 31.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 UBQLN3 50613 genome.wustl.edu 37 11 5529349 5529349 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017481.2 -1 reviewed p.P480 0.000 49 0% 53 22.6% 0 - - - - NULL UBQLN3 50613 genome.wustl.edu 37 11 5530637 5530637 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017481.2 -1 reviewed p.S51Y 0.998 122 0% 141 35.5% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_ubiquitin,HMMSmart_UBQ,superfamily_SSF54236 OR52H1 390067 genome.wustl.edu 37 11 5566279 5566279 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005289.1 -1 provisional p.R159* 0.003 170 0% 189 31.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TRIM6-TRIM34 445372 genome.wustl.edu 37 11 5655903 5655903 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001003819.2 +1 reviewed p.D542Y 0.585 91 0% 106 24.5% 0 - possibly_damaging(0.893) deleterious(0.02) deleterious(0.735) NULL TRIM6-TRIM34 445372 genome.wustl.edu 37 11 5655974 5655974 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001003819.2 +1 reviewed p.K565N 0.000 120 0% 152 21.1% 1 0% benign(0.016) tolerated(0.86) neutral(0.001) NULL TRIM5 85363 genome.wustl.edu 37 11 5699566 5699566 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033034.2 -1 reviewed p.E204D 0.028 208 0% 210 21.9% 10 30% benign(0.355) deleterious(0.04) neutral(0.461) NULL OR52E6 390078 genome.wustl.edu 37 11 5862222 5862222 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005167.1 -1 provisional p.E302D 0.000 364 0% 289 28.7% 0 - benign(0.001) tolerated(1) - superfamily_SSF81321 OR56A3 390083 genome.wustl.edu 37 11 5968590 5968590 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001003443.2 +1 provisional p.R5Q 0.000 154 0% 242 26% 0 - benign(0) tolerated(0.77) neutral(0.001) superfamily_SSF81321 OR52L1 338751 genome.wustl.edu 37 11 6007341 6007341 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005173.2 -1 validated p.I274F 0.705 191 0% 196 16.8% 0 - benign(0.003) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR56A1 120796 genome.wustl.edu 37 11 6048246 6048246 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001917.2 -1 validated p.R230I 0.002 246 0% 211 31.8% 0 - probably_damaging(0.971) deleterious(0.01) deleterious(0.819) HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000180913 0 genome.wustl.edu 37 11 6149955 6149955 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000316517 +1 known p.L39P 0.094 74 0% 62 24.2% 0 - benign(0.064) deleterious(0) neutral(0.449) superfamily_SSF81321 CNGA4 1262 genome.wustl.edu 37 11 6261928 6261928 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037329.2 +1 validated p.R302* 0.192 113 0% 132 37.1% 0 - - - - superfamily_cAMP-binding domain-like CNGA4 1262 genome.wustl.edu 37 11 6265493 6265493 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037329.2 +1 validated p.R528C 1.000 77 0% 91 27.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SMPD1 6609 genome.wustl.edu 37 11 6412102 6412102 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000543.3 +1 reviewed p.P92S 0.746 107 0% 90 20% 13 15.3% benign(0.005) tolerated(0.43) neutral(0.013) HMMSmart_SM00741,superfamily_Saposin DCHS1 8642 genome.wustl.edu 37 11 6646885 6646885 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003737.2 -1 reviewed p.D2269N 1.000 67 0% 45 33.3% 6 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin DCHS1 8642 genome.wustl.edu 37 11 6648492 6648492 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003737.2 -1 reviewed p.T1926 1.000 30 0% 15 26.7% 3 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin OR10A5 144124 genome.wustl.edu 37 11 6866935 6866935 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178168.1 +1 provisional p.E8* 0.009 345 0% 284 27.5% 0 - - - - superfamily_SSF81321 OR10A4 283297 genome.wustl.edu 37 11 6898817 6898817 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207186.2 +1 validated p.Q313H 0.635 218 0% 239 22.2% 0 - benign(0) tolerated(0.22) neutral(0.042) NULL OR2D2 120776 genome.wustl.edu 37 11 6913019 6913019 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003700.1 -1 provisional p.F238C 0.918 189 0% 226 11.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 OR2D3 120775 genome.wustl.edu 37 11 6943166 6943166 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004684.1 +1 provisional p.D312Y 1.000 221 0% 228 28.5% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) superfamily_SSF81321 ZNF215 7762 genome.wustl.edu 37 11 6962868 6962868 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013250.2 +1 validated p.R156Q 0.001 226 0% 213 24.4% 1 0% benign(0.063) tolerated(0.56) neutral(0.010) NULL ZNF214 7761 genome.wustl.edu 37 11 7021545 7021545 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013249.2 -1 validated p.L457I 1.000 236 0% 346 25.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NLRP14 338323 genome.wustl.edu 37 11 7059899 7059899 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176822.3 +1 reviewed p.N28H 0.809 208 0% 217 30.9% 0 - possibly_damaging(0.679) deleterious(0.04) deleterious(0.591) HMMPfam_PAAD_DAPIN,superfamily_DEATH_like NLRP14 338323 genome.wustl.edu 37 11 7063915 7063915 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176822.3 +1 reviewed p.E220* 1.000 263 0% 227 29.1% 0 - - - - HMMPfam_NACHT RBMXL2 27288 genome.wustl.edu 37 11 7110424 7110424 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014469.4 +1 reviewed p.E25K 0.964 14 0% 13 53.8% 0 - benign(0.107) tolerated(0.67) neutral(0.011) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 SYT9 143425 genome.wustl.edu 37 11 7437321 7437321 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175733.3 +1 validated p.T365A 0.997 331 0% 423 29.6% 0 - benign(0.001) deleterious(0) neutral(0.445) superfamily_C2_CaLB PPFIBP2 8495 genome.wustl.edu 37 11 7674305 7674305 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003621.2 +1 validated p.F829 0.547 244 0% 148 27% 23 39.1% - - - NULL OVCH2 341277 genome.wustl.edu 37 11 7713206 7713206 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198185.2 -1 validated p.E478D 0.847 19 0% 21 28.6% 0 - benign(0.04) tolerated(0.51) neutral(0.011) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain OVCH2 341277 genome.wustl.edu 37 11 7721858 7721858 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198185.2 -1 validated p.E296K 0.000 43 0% 48 10.4% 0 - benign(0.001) tolerated(0.69) neutral(0.002) superfamily_Trypsin-like serine proteases OR10A3 26496 genome.wustl.edu 37 11 7960255 7960255 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001003745.1 -1 provisional p.K271N 0.878 256 0% 265 31.3% 0 - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NLRP10 338322 genome.wustl.edu 37 11 7981578 7981578 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176821.3 -1 reviewed p.S527 0.000 157 0% 156 26.3% 0 - - - - NULL NLRP10 338322 genome.wustl.edu 37 11 7982851 7982851 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176821.3 -1 reviewed p.R103Q 1.000 82 0% 79 20.3% 0 - possibly_damaging(0.885) deleterious(0.03) deleterious(0.710) NULL LMO1 4004 genome.wustl.edu 37 11 8248629 8248629 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002315.1 -1 reviewed p.G86 1.000 28 0% 34 32.4% 0 - - - - superfamily_SSF57716 NRIP3 56675 genome.wustl.edu 37 11 9005626 9005626 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020645.2 -1 validated p.S203Y 0.999 334 0% 252 25% 0 - possibly_damaging(0.92) deleterious(0) deleterious(0.816) superfamily_Pept_Aspartic,HMMPfam_Asp_protease SCUBE2 57758 genome.wustl.edu 37 11 9087474 9087474 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020974.2 -1 validated p.D272N 1.000 60 0% 73 32.9% 0 - probably_damaging(0.959) tolerated(0.11) deleterious(0.674) NULL SBF2 81846 genome.wustl.edu 37 11 10024183 10024183 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030962.3 -1 reviewed p.L225I 1.000 286 0% 209 27.8% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_DENN,HMMSmart_SM00799 MRVI1 10335 genome.wustl.edu 37 11 10602108 10602108 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098579.1 -1 reviewed p.E788* 1.000 481 0% 421 29% 0 - - - - HMMPfam_MRVI1 MICAL2 9645 genome.wustl.edu 37 11 12247821 12247821 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014632.2 +1 provisional p.E598* 1.000 80 0% 89 14.6% 0 - - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain MICALCL 84953 genome.wustl.edu 37 11 12315174 12315174 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032867.2 +1 validated p.R66W 0.000 251 0% 212 19.3% 2 0% possibly_damaging(0.772) deleterious(0.01) deleterious(0.693) NULL TEAD1 7003 genome.wustl.edu 37 11 12923642 12923642 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021961.5 +1 reviewed p.F270L 1.000 292 0% 190 29.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TEA RRAS2 22800 genome.wustl.edu 37 11 14316023 14316023 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012250.5 -1 reviewed p.Q134 0.971 108 0% 155 20% 31 32.2% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases PSMA1 5682 genome.wustl.edu 37 11 14535995 14535995 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_148976.2 -1 reviewed p.F105 1.000 73 0% 47 38.3% 218 33.4% - - - HMMPfam_Proteasome,superfamily_SSF56235 CYP2R1 120227 genome.wustl.edu 37 11 14901797 14901797 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024514.4 -1 reviewed p.F295L 0.999 116 0% 132 28% 2 50% benign(0.001) deleterious(0) neutral(0.445) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2R1 120227 genome.wustl.edu 37 11 14902066 14902066 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024514.4 -1 reviewed p.D206N 1.000 153 0% 160 32.5% 2 0% benign(0.001) tolerated(0.43) neutral(0.013) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2R1 120227 genome.wustl.edu 37 11 14902249 14902249 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024514.4 -1 reviewed p.R145* 1.000 131 0% 201 31.8% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 CALCA 796 genome.wustl.edu 37 11 14990396 14990396 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001033952.2 -1 reviewed p.D125 0.929 226 0% 295 20% 0 - - - - NULL INSC 387755 genome.wustl.edu 37 11 15222372 15222372 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001031853.3 +1 provisional p.E279 1.000 37 0% 41 24.4% 0 - - - - superfamily_ARM repeat SOX6 55553 genome.wustl.edu 37 11 16036576 16036576 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033326.3 -1 reviewed p.N548K 0.470 189 0.5% 133 21.8% 0 - benign(0.07) deleterious(0.01) neutral(0.411) NULL PLEKHA7 144100 genome.wustl.edu 37 11 16822540 16822540 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175058.4 -1 validated p.R797K 1.000 365 0.3% 360 26.1% 0 - benign(0.085) tolerated(1) neutral(0.006) NULL PLEKHA7 144100 genome.wustl.edu 37 11 16824525 16824525 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175058.4 -1 validated p.E717D 1.000 211 0.5% 151 24.5% 0 - benign(0.006) tolerated(0.54) neutral(0.007) NULL RPS13 6207 genome.wustl.edu 37 11 17097026 17097026 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001017.2 -1 reviewed p.R99Q 0.994 82 0% 90 30% 678 28.3% benign(0.222) deleterious(0) neutral(0.467) HMMPfam_Ribosomal_S15,PatternScan_RIBOSOMAL_S15,superfamily_S15/NS1 RNA-binding domain PIK3C2A 5286 genome.wustl.edu 37 11 17113137 17113137 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002645.2 -1 validated p.R1570Q 1.000 141 0% 191 30.9% 4 75% probably_damaging(0.991) tolerated(0.73) neutral(0.446) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ABCC8 6833 genome.wustl.edu 37 11 17432122 17432122 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000352.3 -1 reviewed p.D879N 1.000 135 0% 185 22.7% 0 - possibly_damaging(0.93) deleterious(0.04) deleterious(0.726) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases TPH1 7166 genome.wustl.edu 37 11 18062269 18062269 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004179.2 -1 reviewed p.E14G 1.000 83 0% 105 27.6% 0 - possibly_damaging(0.941) deleterious(0.01) deleterious(0.792) superfamily_ACT-like ENSG00000189332 0 genome.wustl.edu 37 11 18231290 18231290 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000340135 +1 known p.E26K 0.009 95 0% 100 33% 0 - benign(0.017) tolerated(0.33) neutral(0.025) NULL HPS5 11234 genome.wustl.edu 37 11 18317630 18317630 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181507.1 -1 reviewed p.K517T 1.000 138 0% 147 32% 2 50% possibly_damaging(0.929) deleterious(0.01) deleterious(0.782) NULL GTF2H1 2965 genome.wustl.edu 37 11 18357412 18357412 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142307.1 +1 validated p.R89Q 1.000 161 0% 191 36.6% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PH domain-like GTF2H1 2965 genome.wustl.edu 37 11 18373941 18373941 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142307.1 +1 validated p.S403Y 1.000 479 0% 506 24.9% 4 25% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) NULL LDHA 3939 genome.wustl.edu 37 11 18418455 18418455 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005566.3 +1 reviewed p.K22N 1.000 233 0.4% 206 24.3% 154 12.9% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Ldh_1_N,superfamily_NAD(P)-binding Rossmann-fold domains LDHAL6A 160287 genome.wustl.edu 37 11 18485579 18485579 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001144071.1 +1 validated p.Q66 1.000 206 0% 187 26.7% 0 - - - - HMMPfam_Ldh_1_N,superfamily_NAD(P)-bd ENSG00000247595 0 genome.wustl.edu 37 11 18631510 18631510 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000501599 +1 known NULL 0.008 158 0% 151 28.5% 0 - - - - - TMEM86A 144110 genome.wustl.edu 37 11 18723427 18723427 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153347.1 +1 provisional p.F198L 1.000 117 0% 104 36.5% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_YhhN IGSF22 283284 genome.wustl.edu 37 11 18741816 18741816 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173588.3 -1 validated p.S132L 0.986 59 0% 53 30.2% 0 - probably_damaging(0.955) tolerated(0.12) deleterious(0.659) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 E2F8 79733 genome.wustl.edu 37 11 19259593 19259593 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024680.2 -1 validated p.E34D 0.776 137 0% 99 18.2% 0 - benign(0.009) tolerated(0.6) neutral(0.005) NULL NAV2 89797 genome.wustl.edu 37 11 20065589 20065589 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182964.5 +1 validated p.K990N 1.000 166 0% 131 19.1% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PRMT3 10196 genome.wustl.edu 37 11 20429519 20429519 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005788.3 +1 validated p.A278 0.856 180 0% 143 31.5% 1 100% - - - HMMPfam_Methyltransf_11,superfamily_S-adenosyl-L-methionine-dependent methyltransferases LOC645490 645490 genome.wustl.edu 37 11 20596412 20596412 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_928515.4 +1 model p.E292K 1.000 41 0% 72 29.2% 0 - - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box NELL1 4745 genome.wustl.edu 37 11 21592382 21592382 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006157.3 +1 reviewed p.E685* 1.000 281 0% 267 26.6% 0 - - - - HMMSmart_SM00214 ANO5 203859 genome.wustl.edu 37 11 22232854 22232854 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_213599.2 +1 reviewed p.E44 0.000 488 0% 436 29.4% 0 - - - - NULL ANO5 203859 genome.wustl.edu 37 11 22271796 22271796 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_213599.2 +1 reviewed p.E298* 1.000 107 0% 61 13.1% 0 - - - - NULL SLC17A6 57084 genome.wustl.edu 37 11 22363299 22363299 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020346.2 +1 validated p.I104 1.000 32 0% 35 37.1% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter LUZP2 338645 genome.wustl.edu 37 11 24927594 24927594 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001009909.2 +1 validated p.E152* 1.000 92 0% 94 26.6% 0 - - - - NULL MUC15 143662 genome.wustl.edu 37 11 26584681 26584681 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135091.1 -1 validated p.D303Y 1.000 221 0% 228 16.2% 0 - unknown(0) deleterious(0) - NULL LGR4 55366 genome.wustl.edu 37 11 27390629 27390629 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018490.2 -1 validated p.F547L 1.000 209 0% 199 28.1% 0 - probably_damaging(0.998) tolerated(0.43) deleterious(0.488) superfamily_SSF81321 LGR4 55366 genome.wustl.edu 37 11 27414057 27414057 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018490.2 -1 validated p.A89V 1.000 49 0% 56 35.7% 2 0% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMPfam_LRR_1,superfamily_SSF52058 KIF18A 81930 genome.wustl.edu 37 11 28106297 28106297 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031217.3 -1 validated p.S319Y 1.000 194 0% 126 23% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 KIF18A 81930 genome.wustl.edu 37 11 28119222 28119222 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031217.3 -1 validated p.E91 1.000 124 0% 105 26.7% 0 - - - - HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 DCDC5 100506627 genome.wustl.edu 37 11 30944167 30944167 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343054.1 -1 model p.E157* 1.000 122 0% 47 17% 0 - - - - superfamily_Doublecortin (DC) LOC100288976 100288976 genome.wustl.edu 37 11 31128392 31128392 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343074.1 -1 model p.S184L 0.538 184 0% 125 24.8% 0 - - - - NULL DCDC1 341019 genome.wustl.edu 37 11 31312267 31312267 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181807.2 -1 validated p.R296Q 0.998 177 0% 196 26.5% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SSF89837 DCDC1 341019 genome.wustl.edu 37 11 31327244 31327244 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181807.2 -1 validated p.L224 0.722 282 0% 196 34.2% 0 - - - - superfamily_SSF89837 CCDC73 493860 genome.wustl.edu 37 11 32657370 32657370 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008391.2 -1 validated p.E353* 1.000 223 0% 170 29.4% 0 - - - - NULL CCDC73 493860 genome.wustl.edu 37 11 32676509 32676509 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008391.2 -1 validated p.K219Q 1.000 43 0% 54 27.8% 0 - possibly_damaging(0.654) tolerated(0.11) deleterious(0.502) NULL QSER1 79832 genome.wustl.edu 37 11 32990657 32990657 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001076786.1 +1 provisional p.L1596I 1.000 151 0% 110 32.7% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL DEPDC7 91614 genome.wustl.edu 37 11 33047304 33047304 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001077242.1 +1 validated p.R58H 0.997 171 0% 138 22.5% 2 0% benign(0) tolerated(0.58) neutral(0.005) "HMMPfam_DEP,HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" DEPDC7 91614 genome.wustl.edu 37 11 33047313 33047313 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001077242.1 +1 validated p.R61Q 0.526 170 0% 139 30.2% 2 100% possibly_damaging(0.565) tolerated(0.31) neutral(0.220) "HMMPfam_DEP,HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" DEPDC7 91614 genome.wustl.edu 37 11 33054274 33054274 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001077242.1 +1 validated p.L400V 0.240 174 0% 179 30.7% 0 - benign(0.008) tolerated(0.07) neutral(0.319) NULL HIPK3 10114 genome.wustl.edu 37 11 33358624 33358624 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005734.3 +1 validated p.R409* 1.000 191 0% 169 20.1% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase C11orf41 25758 genome.wustl.edu 37 11 33565829 33565829 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012194.1 +1 validated p.P610L 0.010 217 0.5% 207 26.6% 0 - benign(0) tolerated(0.53) neutral(0.007) NULL C11orf41 25758 genome.wustl.edu 37 11 33566752 33566752 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012194.1 +1 validated p.V780 0.983 203 0% 212 34.4% 0 - - - - NULL C11orf41 25758 genome.wustl.edu 37 11 33631491 33631491 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012194.1 +1 validated p.P1462Q 0.977 171 0% 117 31.6% 0 - probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL PDHX 8050 genome.wustl.edu 37 11 34991801 34991801 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003477.2 +1 reviewed p.A311V 1.000 152 0% 107 30.8% 11 45.4% possibly_damaging(0.674) tolerated(0.24) neutral(0.277) HMMPfam_2-oxoacid_dh,superfamily_SSF52777 TRIM44 54765 genome.wustl.edu 37 11 35684900 35684900 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017583.4 +1 reviewed p.A81T 0.000 28 0% 31 22.6% 6 16.6% unknown(0) tolerated(0.25) - NULL COMMD9 29099 genome.wustl.edu 37 11 36296183 36296183 + Nonstop_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014186.3 -1 validated p.*199L 0.958 95 0% 79 19% 55 20% - - - NULL PRR5L 79899 genome.wustl.edu 37 11 36472856 36472856 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024841.4 +1 validated p.R228H 0.652 99 0% 75 32% 15 13.3% benign(0.012) tolerated(0.58) neutral(0.005) NULL RAG1 5896 genome.wustl.edu 37 11 36595177 36595177 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000448.2 +1 reviewed p.R108Q 0.369 258 0% 176 33% 0 - benign(0.045) tolerated(0.4) neutral(0.018) NULL LRRC4C 57689 genome.wustl.edu 37 11 40137316 40137316 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020929.1 -1 validated p.R176L 1.000 220 0% 186 25.8% 0 - possibly_damaging(0.557) tolerated(0.46) neutral(0.202) superfamily_L domain-like API5 8539 genome.wustl.edu 37 11 43364267 43364267 + RNA SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NR_024625.1 +1 validated NULL 1.000 11 0% 17 47.1% 11 45.4% - - - - TTC17 55761 genome.wustl.edu 37 11 43511874 43511874 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018259.5 +1 validated p.R1039L 1.000 226 0% 204 25.5% 36 47.2% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMSmart_TPR,superfamily_SSF48452 ALKBH3 221120 genome.wustl.edu 37 11 43904214 43904214 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139178.3 +1 validated p.K4N 1.000 53 0% 46 23.9% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SYT13 57586 genome.wustl.edu 37 11 45274228 45274228 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020826.2 -1 validated p.G197E 0.995 103 0% 103 31.1% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) MAPK8IP1 9479 genome.wustl.edu 37 11 45925556 45925556 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005456.2 +1 reviewed p.E504K 0.966 71 0% 38 34.2% 24 20.8% benign(0.05) deleterious(0.04) neutral(0.352) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 MDK 4192 genome.wustl.edu 37 11 46405023 46405023 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000405098 +1 known p.E56* 1.000 14 0% 24 20.8% 5317 42.9% - - - NULL ATG13 9776 genome.wustl.edu 37 11 46678659 46678659 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142673.1 +1 validated p.R172C 1.000 139 0% 118 27.1% 12 25% benign(0.181) deleterious(0.01) neutral(0.422) HMMPfam_DUF2224 CKAP5 9793 genome.wustl.edu 37 11 46832588 46832588 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008938.1 -1 validated p.R200I 1.000 170 0% 155 27.7% 1 0% benign(0.066) deleterious(0) neutral(0.449) superfamily_ARM repeat LRP4 4038 genome.wustl.edu 37 11 46896419 46896419 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002334.3 -1 reviewed p.V1387 1.000 115 0% 96 30.2% 32 31.2% - - - HMMSmart_SM00135,superfamily_YWTD domain SLC39A13 91252 genome.wustl.edu 37 11 47433982 47433982 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001128225.2 +1 reviewed p.K167N 1.000 23 0% 22 27.3% 16 25% possibly_damaging(0.61) deleterious(0.02) deleterious(0.595) HMMPfam_Zip AGBL2 79841 genome.wustl.edu 37 11 47712314 47712314 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024783.2 -1 validated p.D315E 0.006 203 0% 264 28.4% 0 - benign(0.001) tolerated(0.23) neutral(0.042) NULL NUP160 23279 genome.wustl.edu 37 11 47819986 47819986 + Missense_Mutation SNP C C G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015231.1 -1 validated p.L975F 1.000 263 0.4% 291 26.1% 11 54.5% possibly_damaging(0.889) tolerated(0.13) deleterious(0.602) NULL OR4C5 79346 genome.wustl.edu 37 11 48387637 48387637 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000319813 -1 known p.F127L 0.085 19 0% 19 36.8% 0 - benign(0.032) tolerated(0.4) neutral(0.018) HMMPfam_7tm_1,superfamily_SSF81321 LOC120824 120824 genome.wustl.edu 37 11 49000610 49000610 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_062300.6 -1 model p.H184 0.054 76 0% 99 29.3% 0 - - - - NULL LOC283116 283116 genome.wustl.edu 37 11 49059487 49059487 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_208043.4 +1 model p.F439L 0.112 642 0% 639 16.7% 0 - benign(0.005) tolerated(0.37) neutral(0.019) HMMPfam_SPRY ENSG00000219061 0 genome.wustl.edu 37 11 49860860 49860860 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000405176 -1 known p.I5L 0.776 160 0% 300 25.7% 0 - - - - superfamily_SSF57850 OR4C13 283092 genome.wustl.edu 37 11 49974718 49974718 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001955.2 +1 validated p.S248 0.003 431 0.7% 385 30.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4C12 283093 genome.wustl.edu 37 11 50003294 50003294 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005270.2 -1 validated p.F248L 0.000 294 0% 194 23.7% 0 - benign(0.008) deleterious(0) neutral(0.445) HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000214883 0 genome.wustl.edu 37 11 50368823 50368823 + Splice_Site SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000399175 +1 known e0+2 1.000 125 0% 121 23.1% 0 - - - - - ENSG00000166007 0 genome.wustl.edu 37 11 55059985 55059985 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000309470 -1 known p.D309Y 0.042 288 0% 261 19.9% 0 - - - - NULL OR4A15 81328 genome.wustl.edu 37 11 55136243 55136243 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005275.1 +1 provisional p.I295T 0.002 589 0% 675 24.7% 0 - benign(0.024) tolerated(0.12) neutral(0.262) HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000181943 0 genome.wustl.edu 37 11 55259034 55259034 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000314657 +1 known p.D106Y 1.000 292 0% 319 23.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ENSG00000181943 0 genome.wustl.edu 37 11 55259069 55259069 + Nonsense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000314657 +1 known p.Y117* 0.060 315 0% 356 33.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4C16 219428 genome.wustl.edu 37 11 55339915 55339915 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004701.2 +1 validated p.V104 0.673 404 0% 339 19.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4C6 219432 genome.wustl.edu 37 11 55432703 55432703 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004704.1 +1 provisional p.L21 0.000 262 0% 343 23.6% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR5L1 219437 genome.wustl.edu 37 11 55579875 55579875 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004738.1 +1 provisional p.S311 0.000 101 0% 81 28.4% 0 - - - - NULL OR5D18 219438 genome.wustl.edu 37 11 55587651 55587651 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001952.1 +1 provisional p.F182L 0.025 428 0% 388 26% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 OR5L2 26338 genome.wustl.edu 37 11 55595430 55595430 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004739.1 +1 provisional p.T246P 0.831 309 0% 343 34.4% 0 - possibly_damaging(0.927) deleterious(0) deleterious(0.820) HMMPfam_7tm_1,superfamily_SSF81321 OR5D16 390144 genome.wustl.edu 37 11 55606564 55606564 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005496.1 +1 provisional p.E113* 0.009 498 0% 530 30.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5W2 390148 genome.wustl.edu 37 11 55681465 55681465 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001960.1 -1 provisional p.V198 0.000 226 0% 189 11.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5I1 10798 genome.wustl.edu 37 11 55703611 55703611 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006637.1 -1 reviewed p.S89L 0.001 180 0% 241 19.1% 0 - probably_damaging(0.987) tolerated(0.38) neutral(0.454) HMMPfam_7tm_1,superfamily_SSF81321 OR10AG1 282770 genome.wustl.edu 37 11 55735237 55735237 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005491.1 -1 provisional p.H235N 1.000 124 0% 83 15.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5F1 338674 genome.wustl.edu 37 11 55762017 55762017 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003697.1 -1 provisional p.L29 0.000 223 0% 210 31.4% 0 - - - - superfamily_SSF81321 OR5AS1 219447 genome.wustl.edu 37 11 55798098 55798098 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001921.1 +1 provisional p.F68L 0.998 211 0% 174 26.4% 0 - possibly_damaging(0.946) tolerated(0.23) neutral(0.431) HMMPfam_7tm_1,superfamily_SSF81321 OR5T2 219464 genome.wustl.edu 37 11 55999620 55999620 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004746.1 -1 provisional p.Q348K 0.000 254 0.4% 290 31.7% 0 - benign(0) tolerated(0.6) neutral(0.004) NULL OR5T3 390154 genome.wustl.edu 37 11 56019777 56019777 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004747.1 +1 provisional p.K34 0.000 200 0% 206 19.9% 0 - - - - superfamily_SSF81321 OR5T1 390155 genome.wustl.edu 37 11 56043422 56043422 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004745.1 +1 provisional p.S103Y 0.000 500 0% 492 13% 0 - possibly_damaging(0.609) tolerated(0.32) neutral(0.235) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8H1 219469 genome.wustl.edu 37 11 56057777 56057777 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005199.1 -1 provisional p.M254I 0.000 275 0% 164 25.6% 0 - benign(0.001) tolerated(0.43) neutral(0.013) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8K3 219473 genome.wustl.edu 37 11 56086060 56086060 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005202.1 +1 provisional p.S93Y 0.204 281 0% 307 32.2% 0 - probably_damaging(0.962) deleterious(0) deleterious(0.850) HMMPfam_7tm_1,superfamily_SSF81321 OR8K3 219473 genome.wustl.edu 37 11 56086373 56086373 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005202.1 +1 provisional p.L197F 0.001 159 0% 165 27.9% 0 - benign(0.01) tolerated(0.09) neutral(0.297) HMMPfam_7tm_1,superfamily_SSF81321 OR5M3 219482 genome.wustl.edu 37 11 56237552 56237552 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004742.1 -1 provisional p.R141Q 0.000 309 0% 303 20.5% 0 - benign(0.026) tolerated(0.46) neutral(0.013) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5M3 219482 genome.wustl.edu 37 11 56237595 56237595 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004742.1 -1 provisional p.P127S 0.998 322 0% 302 29.8% 0 - benign(0.029) deleterious(0.01) neutral(0.407) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5M3 219482 genome.wustl.edu 37 11 56237711 56237711 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004742.1 -1 provisional p.K88T 0.022 379 0% 330 28.5% 0 - benign(0.199) tolerated(0.07) neutral(0.338) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5AK2 390181 genome.wustl.edu 37 11 56756655 56756655 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005323.1 +1 provisional p.K89N 0.000 326 0% 391 27.4% 0 - benign(0) tolerated(0.52) neutral(0.009) HMMPfam_7tm_1,superfamily_SSF81321 SSRP1 6749 genome.wustl.edu 37 11 57100567 57100567 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003146.2 -1 reviewed p.N135D 1.000 40 0% 76 23.7% 43 41.8% benign(0) tolerated(0.39) neutral(0.016) NULL SSRP1 6749 genome.wustl.edu 37 11 57102112 57102112 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003146.2 -1 reviewed p.R22Q 1.000 80 0% 105 26.7% 75 25.3% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL PRG3 10394 genome.wustl.edu 37 11 57147131 57147131 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006093.3 -1 validated p.D71Y 0.004 20 0% 38 23.7% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL PRG2 5553 genome.wustl.edu 37 11 57156638 57156638 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002728.4 -1 reviewed p.D71Y 0.000 108 0% 174 28.2% 2 0% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL SLC43A3 29015 genome.wustl.edu 37 11 57182519 57182519 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014096.2 -1 validated p.R277Q 0.044 122 0% 128 18.8% 16 0% benign(0.034) tolerated(0.42) neutral(0.016) superfamily_MFS_gen_substrate_transporter SLC43A1 8501 genome.wustl.edu 37 11 57261522 57261522 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003627.4 -1 provisional p.S272L 0.000 51 0% 46 32.6% 6 83.3% benign(0.062) tolerated(0.43) neutral(0.018) superfamily_MFS general substrate transporter SMTNL1 219537 genome.wustl.edu 37 11 57310688 57310688 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105565.1 +1 provisional p.E209D 0.014 48 0% 63 31.7% 6 33.3% possibly_damaging(0.868) tolerated(0.07) deleterious(0.656) NULL SERPING1 710 genome.wustl.edu 37 11 57367822 57367822 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000062.2 +1 reviewed p.I174 0.020 175 0% 193 33.7% 240 15.8% - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin ZDHHC5 25921 genome.wustl.edu 37 11 57466681 57466681 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015457.2 +1 validated p.K591N 1.000 122 0% 139 38.8% 46 32.6% benign(0.304) tolerated(0.16) neutral(0.154) NULL OR6Q1 219952 genome.wustl.edu 37 11 57798461 57798461 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005186.2 +1 validated p.E13* 0.881 467 0% 488 24% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR6Q1 219952 genome.wustl.edu 37 11 57798553 57798553 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005186.2 +1 validated p.E43D 0.986 453 0.2% 409 27.4% 0 - possibly_damaging(0.783) tolerated(0.16) neutral(0.352) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR6Q1 219952 genome.wustl.edu 37 11 57798648 57798648 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005186.2 +1 validated p.Y75S 0.724 369 0% 338 22.5% 0 - probably_damaging(0.956) deleterious(0) deleterious(0.844) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR9I1 219954 genome.wustl.edu 37 11 57886086 57886086 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005211.1 -1 validated p.F277L 0.967 224 0% 239 33.1% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_7tm_1,superfamily_SSF81321 OR9I1 219954 genome.wustl.edu 37 11 57886089 57886089 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005211.1 -1 validated p.V276 0.892 235 0% 244 23.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5B3 441608 genome.wustl.edu 37 11 58170303 58170303 + Missense_Mutation SNP C C T rs190645593 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005469.1 -1 validated p.E194K 0.106 306 0% 346 26.6% 0 - benign(0.402) tolerated(0.09) neutral(0.425) HMMPfam_7tm_1,superfamily_SSF81321 OR5B2 390190 genome.wustl.edu 37 11 58190721 58190721 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005566.2 -1 validated p.T5M 0.834 403 0% 560 16.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Family A G protein-coupled receptor-like OR5B21 219968 genome.wustl.edu 37 11 58275379 58275379 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005218.1 -1 provisional p.V67A 0.044 266 0% 260 28.8% 0 - benign(0.195) tolerated(0.09) neutral(0.315) HMMPfam_7tm_1,superfamily_SSF81321 ZFP91 80829 genome.wustl.edu 37 11 58377457 58377457 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_053023.3 +1 reviewed p.T175 0.997 179 0% 165 35.8% 6 16.6% - - - NULL GLYATL1 92292 genome.wustl.edu 37 11 58723373 58723373 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080661.2 +1 provisional p.P292Q 0.057 280 0% 216 24.5% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gly_acyl_tr_C,superfamily_Acyl_CoA_acyltransferase GLYATL1 92292 genome.wustl.edu 37 11 58723415 58723415 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080661.2 +1 provisional p.R306I 0.000 281 0% 223 22.9% 1 0% benign(0.308) deleterious(0.02) deleterious(0.479) HMMPfam_Gly_acyl_tr_C,superfamily_Acyl_CoA_acyltransferase LOC643637 643637 genome.wustl.edu 37 11 58817664 58817664 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343101.1 +1 model p.S159L 0.000 147 0% 130 16.9% 0 - - - - HMMPfam_Gly_acyl_tr_N,superfamily_Acyl-CoA N-acyltransferases (Nat) LOC643637 643637 genome.wustl.edu 37 11 58817665 58817665 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343101.1 +1 model p.S159 0.000 148 0% 134 17.9% 0 - - - - HMMPfam_Gly_acyl_tr_N,superfamily_Acyl-CoA N-acyltransferases (Nat) LOC100287520 100287520 genome.wustl.edu 37 11 58861948 58861948 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343089.1 +1 model p.R237C 0.006 31 0% 35 28.6% 0 - - - - HMMPfam_Gly_acyl_tr_N,superfamily_Acyl-CoA N-acyltransferases (Nat) FAM111B 374393 genome.wustl.edu 37 11 58891940 58891940 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198947.3 +1 validated p.Q124K 0.000 209 0% 255 18.8% 1 0% benign(0) tolerated(0.49) neutral(0.011) NULL FAM111B 374393 genome.wustl.edu 37 11 58893195 58893195 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198947.3 +1 validated p.N542T 0.000 280 0% 343 25.4% 3 33.3% benign(0) tolerated(0.59) neutral(0.004) superfamily_Trypsin-like serine proteases MPEG1 219972 genome.wustl.edu 37 11 58979987 58979987 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039396.1 -1 validated p.E118* 0.652 216 0% 229 31.4% 1 0% - - - NULL OR4D6 219983 genome.wustl.edu 37 11 59224917 59224917 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004708.1 +1 provisional p.L162M 0.012 243 0% 284 24.6% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_7tm_1,superfamily_SSF81321 OR4D10 390197 genome.wustl.edu 37 11 59245108 59245108 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004705.1 +1 provisional p.A69V 0.000 372 0% 376 34.3% 0 - benign(0) tolerated(0.47) neutral(0.011) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4D11 219986 genome.wustl.edu 37 11 59271079 59271079 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004706.1 +1 provisional p.E11* 1.000 217 0% 186 33.3% 0 - - - - superfamily_SSF81321 OSBP 5007 genome.wustl.edu 37 11 59369210 59369210 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002556.2 -1 reviewed p.L308 0.255 173 0% 216 17.1% 9 22.2% - - - NULL PATL1 219988 genome.wustl.edu 37 11 59423519 59423519 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152716.2 -1 validated e7-1 1.000 20 0% 29 27.6% 0 - - - - - GIF 2694 genome.wustl.edu 37 11 59604650 59604650 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005142.2 -1 reviewed p.P290T 0.267 120 0% 137 19.7% 0 - benign(0.018) tolerated(0.19) neutral(0.050) HMMPfam_Cobalamin_bind TCN1 6947 genome.wustl.edu 37 11 59630139 59630139 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001062.3 -1 reviewed p.R106C 0.010 297 0% 238 24.4% 0 - possibly_damaging(0.905) deleterious(0.01) deleterious(0.765) HMMPfam_Cobalamin_bind MS4A14 84689 genome.wustl.edu 37 11 60165404 60165404 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032597.3 +1 validated p.R73I 0.000 155 0% 175 24.6% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_CD20 MS4A1 931 genome.wustl.edu 37 11 60235911 60235911 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021950.3 +1 reviewed p.S288 0.004 309 0% 240 14.6% 0 - - - - NULL MS4A8B 83661 genome.wustl.edu 37 11 60468341 60468341 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031457.1 +1 reviewed p.S3L 0.003 650 0% 506 26.9% 0 - benign(0.429) tolerated(0.08) neutral(0.440) NULL CD6 923 genome.wustl.edu 37 11 60781018 60781018 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006725.3 +1 validated p.R425I 0.007 165 0% 152 26.3% 5 0% possibly_damaging(0.92) deleterious(0) deleterious(0.816) NULL RAB3IL1 5866 genome.wustl.edu 37 11 61669972 61669972 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013401.2 -1 provisional p.R314Q 1.000 4 0.000 8 0.500 15 6.6% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL SCGB2A1 4246 genome.wustl.edu 37 11 61981211 61981211 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002407.2 +1 validated p.D86A 0.005 333 0% 272 19.9% 4999 49.2% probably_damaging(0.98) deleterious(0.02) deleterious(0.807) HMMPfam_Uteroglobin,superfamily_Secretoglobin SCGB2A2 4250 genome.wustl.edu 37 11 62038495 62038495 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002411.2 +1 provisional p.F66 0.016 187 0% 213 28.6% 81 70.3% - - - HMMPfam_Uteroglobin,superfamily_Uteroglobin-like ASRGL1 80150 genome.wustl.edu 37 11 62159010 62159010 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001083926.1 +1 validated p.A209 0.997 28 0% 15 33.3% 225 40% - - - HMMPfam_Asparaginase_2,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) AHNAK 79026 genome.wustl.edu 37 11 62290726 62290726 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001620.1 -1 validated p.I3721 0.005 402 0% 285 23.2% 4 25% - - - HMMPfam_CheC AHNAK 79026 genome.wustl.edu 37 11 62296324 62296324 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001620.1 -1 validated p.I1855 0.997 445 0% 345 28.1% 3 66.6% - - - NULL AHNAK 79026 genome.wustl.edu 37 11 62298730 62298730 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001620.1 -1 validated p.P1053 0.770 171 0% 127 22.8% 0 - - - - NULL AHNAK 79026 genome.wustl.edu 37 11 62300033 62300033 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001620.1 -1 validated p.A619V 0.001 138 0% 137 31.4% 0 - benign(0) tolerated(1) - NULL AHNAK 79026 genome.wustl.edu 37 11 62300470 62300470 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001620.1 -1 validated p.E473 0.027 182 0% 189 27% 2 0% - - - NULL STX5 6811 genome.wustl.edu 37 11 62594689 62594689 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003164.3 -1 validated p.R121C 1.000 165 0% 191 28.3% 26 38.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Syntaxin,superfamily_t-snare proteins SLC22A25 387601 genome.wustl.edu 37 11 62948202 62948202 + Nonsense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_199352.3 -1 validated p.K334* 0.002 352 0.3% 330 28.8% 0 - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A10 387775 genome.wustl.edu 37 11 63069995 63069995 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039752.3 +1 validated p.A422V 0.000 199 0% 195 30.3% 0 - benign(0.003) tolerated(0.23) neutral(0.042) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A9 114571 genome.wustl.edu 37 11 63141259 63141259 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080866.2 +1 validated p.T217N 0.000 297 0% 283 18% 0 - benign(0.004) tolerated(0.24) neutral(0.037) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A9 114571 genome.wustl.edu 37 11 63176231 63176231 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080866.2 +1 validated p.S494Y 0.000 175 0% 151 14.6% 0 - benign(0.002) tolerated(1) - superfamily_MFS general substrate transporter ATL3 25923 genome.wustl.edu 37 11 63410931 63410931 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015459.3 -1 validated p.R250* 1.000 73 0% 54 31.5% 1 0% - - - HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases NAA40 79829 genome.wustl.edu 37 11 63719915 63719915 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024771.2 +1 validated p.E96D 1.000 94 0% 119 33.6% 16 31.2% possibly_damaging(0.918) tolerated(0.42) neutral(0.383) superfamily_Acyl-CoA N-acyltransferases (Nat) NRXN2 9379 genome.wustl.edu 37 11 64434811 64434811 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015080.2 -1 reviewed p.G570E 1.000 106 0% 95 32.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 SF1 7536 genome.wustl.edu 37 11 64537753 64537753 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004630.3 -1 reviewed p.D122N 1.000 57 0% 109 24.8% 43 20.9% benign(0.061) tolerated(1) neutral(0.004) NULL GPHA2 170589 genome.wustl.edu 37 11 64702872 64702872 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130769.3 -1 validated p.A21S 0.078 14 0% 12 50% 0 - benign(0.002) tolerated(0.33) neutral(0.024) NULL C11orf85 283129 genome.wustl.edu 37 11 64708098 64708098 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037225.1 -1 predicted p.N165S 0.992 153 0% 189 13.2% 0 - benign(0.224) tolerated(1) neutral(0.022) NULL C11orf85 283129 genome.wustl.edu 37 11 64717285 64717285 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037225.1 -1 predicted p.I93 0.314 131 0% 125 16% 0 - - - - NULL SLC22A20 440044 genome.wustl.edu 37 11 65009497 65009497 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004326.4 +1 validated p.E482* 0.047 17 0% 22 27.3% 0 - - - - NULL POLA2 23649 genome.wustl.edu 37 11 65049163 65049163 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002689.2 +1 provisional p.N308S 1.000 95 0% 101 24.8% 20 10% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SNX32 254122 genome.wustl.edu 37 11 65616737 65616737 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000435160 +1 known p.F4C 0.001 8 0.000 22 0.273 0 - - - - NULL ACTN3 89 genome.wustl.edu 37 11 66318769 66318769 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001104.1 +1 reviewed p.I69 1.000 33 0% 28 25% 0 - - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain CTSF 8722 genome.wustl.edu 37 11 66335104 66335104 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003793.3 -1 reviewed p.L114 0.000 97 0% 95 28.4% 3 0% - - - NULL CCDC87 55231 genome.wustl.edu 37 11 66358013 66358013 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018219.2 -1 validated p.R825Q 0.614 74 0% 86 18.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RBM4 5936 genome.wustl.edu 37 11 66407237 66407237 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002896.2 +1 validated p.R19C 1.000 245 0% 252 29% 53 3.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD RBM4 5936 genome.wustl.edu 37 11 66407465 66407465 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002896.2 +1 validated p.R95* 1.000 313 0% 289 29.8% 137 8.7% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD RBM4B 83759 genome.wustl.edu 37 11 66436583 66436583 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031492.2 -1 provisional p.R198* 1.000 88 0% 95 32.6% 24 12.5% - - - NULL RBM4B 83759 genome.wustl.edu 37 11 66436756 66436756 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031492.2 -1 provisional p.R140I 1.000 78 0% 86 30.2% 14 7.1% possibly_damaging(0.616) deleterious(0.04) deleterious(0.564) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ADRBK1 156 genome.wustl.edu 37 11 67052657 67052657 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001619.3 +1 reviewed p.D635N 0.997 32 0% 18 44.4% 243 26.7% benign(0) tolerated(0.25) neutral(0.037) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 SUV420H1 51111 genome.wustl.edu 37 11 67939171 67939171 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017635.3 -1 reviewed p.R220Q 1.000 72 0% 72 30.6% 4 0% probably_damaging(0.986) tolerated(0.13) deleterious(0.687) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain SUV420H1 51111 genome.wustl.edu 37 11 67953383 67953383 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017635.3 -1 reviewed p.S58L 0.330 105 0% 133 26.3% 14 35.7% possibly_damaging(0.637) tolerated(0.08) deleterious(0.523) NULL PPP6R3 55291 genome.wustl.edu 37 11 68337215 68337215 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018312.4 +1 validated e8-1 1.000 234 0% 202 23.8% 0 - - - - - MTL5 9633 genome.wustl.edu 37 11 68506237 68506237 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004923.3 -1 reviewed p.S283L 0.009 165 0% 184 25.5% 5 60% probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL CPT1A 1374 genome.wustl.edu 37 11 68574944 68574944 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001876.3 -1 reviewed p.K148N 0.003 17 0% 33 24.2% 18 33.3% probably_damaging(0.955) deleterious(0.02) deleterious(0.782) NULL CCND1 595 genome.wustl.edu 37 11 69462881 69462881 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_053056.2 +1 reviewed p.F232L 0.999 26 0% 11 36.4% 1026 95.1% benign(0.007) tolerated(1) - HMMPfam_Cyclin_C,superfamily_Cyclin-like FGF4 2249 genome.wustl.edu 37 11 69588179 69588179 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002007.2 -1 reviewed p.K173 0.000 50 0% 37 16.2% 0 - - - - HMMPfam_FGF,HMMSmart_FGF,superfamily_Cytok_IL1_like DHCR7 1717 genome.wustl.edu 37 11 71146427 71146427 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001360.2 -1 reviewed p.I474 1.000 25 0% 16 31.2% 23 43.4% - - - HMMPfam_ERG4_ERG24 NADSYN1 55191 genome.wustl.edu 37 11 71164383 71164383 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018161.4 +1 validated p.Q14P 1.000 7 0.000 16 0.375 4 75% possibly_damaging(0.81) deleterious(0) deleterious(0.750) HMMPfam_CN_hydrolase,superfamily_Carbon-nitrogen hydrolase NUMA1 4926 genome.wustl.edu 37 11 71715128 71715128 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006185.2 -1 validated p.S2047 0.033 57 0% 31 29% 417 45.8% - - - NULL NUMA1 4926 genome.wustl.edu 37 11 71724098 71724098 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006185.2 -1 validated p.R1484H 0.945 64 0% 78 19.2% 164 29.2% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL CLPB 81570 genome.wustl.edu 37 11 72013354 72013354 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030813.3 -1 provisional p.R417 0.992 111 0% 82 30.5% 10 40% - - - HMMSmart_SM00382,HMMPfam_AAA_2,superfamily_P-loop containing nucleoside triphosphate hydrolases C2CD3 26005 genome.wustl.edu 37 11 73814499 73814499 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015531.4 -1 validated p.H753N 0.000 378 0% 349 24.9% 1 0% benign(0.001) tolerated(0.11) neutral(0.272) NULL RNF169 254225 genome.wustl.edu 37 11 74545744 74545744 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098638.1 +1 validated p.R289M 1.000 139 0% 91 20.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL XRRA1 143570 genome.wustl.edu 37 11 74562192 74562192 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182969.1 -1 validated p.R433* 1.000 66 0% 56 37.5% 2 0% - - - superfamily_L domain-like MOGAT2 80168 genome.wustl.edu 37 11 75438666 75438666 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025098.2 +1 provisional p.D153Y 1.000 225 0% 156 25.6% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_DAGAT DGAT2 84649 genome.wustl.edu 37 11 75507472 75507472 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032564.3 +1 validated p.E177K 1.000 86 0% 92 27.2% 5 40% possibly_damaging(0.694) tolerated(0.07) deleterious(0.568) HMMPfam_DAGAT PRKRIR 5612 genome.wustl.edu 37 11 76063566 76063566 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004705.2 -1 provisional p.N210H 1.000 153 0% 153 39.2% 0 - probably_damaging(0.958) deleterious(0.01) deleterious(0.807) NULL C11orf30 56946 genome.wustl.edu 37 11 76162954 76162954 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020193.3 +1 validated p.L41 1.000 105 0% 77 29.9% 1 0% - - - HMMPfam_ENT C11orf30 56946 genome.wustl.edu 37 11 76257149 76257149 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020193.3 +1 validated p.V1194 0.969 163 0% 100 18% 8 62.5% - - - NULL MYO7A 4647 genome.wustl.edu 37 11 76870492 76870492 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000260.3 +1 reviewed e9-1 1.000 43 0% 63 23.8% 0 - - - - - GDPD4 220032 genome.wustl.edu 37 11 76956435 76956435 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182833.1 -1 provisional p.K326T 0.853 241 0% 181 28.2% 0 - probably_damaging(0.999) tolerated(0.55) deleterious(0.497) HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl GDPD4 220032 genome.wustl.edu 37 11 76979974 76979974 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182833.1 -1 provisional p.P207S 1.000 356 0% 393 29.5% 0 - probably_damaging(1) tolerated(0.23) deleterious(0.541) HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl PAK1 5058 genome.wustl.edu 37 11 77054886 77054886 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001128620.1 -1 reviewed p.N326H 1.000 283 0% 378 16.4% 54 18.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ALG8 79053 genome.wustl.edu 37 11 77824971 77824971 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024079.4 -1 reviewed p.F246L 1.000 113 0% 95 27.4% 26 42.3% benign(0) tolerated(1) - HMMPfam_Alg6_Alg8 LOC100289388 100289388 genome.wustl.edu 37 11 77885040 77885040 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343083.1 +1 model p.V104I 1.000 235 0% 213 35.7% 0 - - - - NULL NARS2 79731 genome.wustl.edu 37 11 78147847 78147847 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024678.4 -1 validated p.R435C 1.000 446 0% 453 28.3% 35 34.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_2,superfamily_Class II aaRS and biotin synthetases NARS2 79731 genome.wustl.edu 37 11 78270653 78270653 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024678.4 -1 validated p.V176L 0.701 249 0% 210 33.3% 6 33.3% benign(0.016) tolerated(0.29) neutral(0.030) HMMPfam_tRNA-synt_2,superfamily_Class II aaRS and biotin synthetases ODZ4 26011 genome.wustl.edu 37 11 78383318 78383318 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098816.2 -1 validated p.K1851N 1.000 126 0% 52 23.1% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL ODZ4 26011 genome.wustl.edu 37 11 78431428 78431428 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098816.2 -1 validated p.D1270Y 1.000 181 0% 169 31.4% 0 - possibly_damaging(0.708) deleterious(0.01) deleterious(0.661) superfamily_SSF101898,superfamily_TolB_C DLG2 1740 genome.wustl.edu 37 11 83177766 83177766 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142699.1 -1 reviewed p.S905Y 1.000 255 0% 224 19.2% 0 - possibly_damaging(0.864) deleterious(0) deleterious(0.779) HMMPfam_Guanylate_kin,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC89 220388 genome.wustl.edu 37 11 85396652 85396652 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152723.1 -1 provisional p.A174 0.317 144 0% 216 27.3% 0 - - - - NULL SYTL2 54843 genome.wustl.edu 37 11 85436581 85436581 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_206927.2 -1 reviewed p.D307Y 0.000 373 0% 313 26.5% 0 - benign(0.354) deleterious(0.03) deleterious(0.476) NULL SYTL2 54843 genome.wustl.edu 37 11 85437200 85437200 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_206927.2 -1 reviewed p.I100 0.035 375 0% 284 28.9% 0 - - - - NULL SYTL2 54843 genome.wustl.edu 37 11 85437427 85437427 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_206927.2 -1 reviewed p.E25* 0.739 213 0% 151 27.2% 0 - - - - NULL SYTL2 54843 genome.wustl.edu 37 11 85468684 85468684 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032943.3 -1 reviewed p.E29K 1.000 668 0% 758 23.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_FYVE/PHD zinc finger CTSC 1075 genome.wustl.edu 37 11 88033707 88033707 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001814.4 -1 reviewed p.R250* 1.000 210 0% 172 26.2% 69 0% - - - HMMPfam_Peptidase_C1,HMMSmart_SM00645,superfamily_Cysteine proteinases GRM5 2915 genome.wustl.edu 37 11 88242657 88242657 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001143831.2 -1 reviewed p.S914 0.014 12 0% 15 33.3% 0 - - - - NULL GRM5 2915 genome.wustl.edu 37 11 88742212 88742212 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000393294 -1 known p.S239Y 0.001 30 0% 24 20.8% 0 - benign(0.057) deleterious(0) neutral(0.448) NULL TYR 7299 genome.wustl.edu 37 11 88911926 88911926 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000372.4 +1 reviewed p.F269V 1.000 203 0% 192 26.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Tyrosinase,superfamily_Di-copper centre-containing domain ENSG00000234376 0 genome.wustl.edu 37 11 89486234 89486234 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000411859 -1 known p.E301* 0.876 204 0% 226 14.2% 0 - - - - superfamily_HMG-box ENSG00000204456 0 genome.wustl.edu 37 11 89499882 89499882 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000375974 -1 known p.L162I 0.134 285 0% 281 20.3% 0 - - - - HMMPfam_SPRY NAALAD2 10003 genome.wustl.edu 37 11 89868834 89868834 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005467.3 +1 reviewed p.L64I 1.000 136 0% 113 29.2% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL NAALAD2 10003 genome.wustl.edu 37 11 89880500 89880500 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005467.3 +1 reviewed p.S66Y 1.000 132 0% 110 28.2% 0 - benign(0.017) tolerated(1) neutral(0.001) NULL NAALAD2 10003 genome.wustl.edu 37 11 89911121 89911121 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005467.3 +1 reviewed p.S565Y 0.996 237 0% 185 25.4% 0 - possibly_damaging(0.942) deleterious(0.01) deleterious(0.792) superfamily_Zn-dependent exopeptidases CHORDC1 26973 genome.wustl.edu 37 11 89936573 89936573 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012124.2 -1 validated p.R231I 1.000 147 0% 112 30.4% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HSP20-like chaperones,HMMPfam_CS CHORDC1 26973 genome.wustl.edu 37 11 89947197 89947197 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012124.2 -1 validated p.I106 0.998 178 0% 160 24.4% 2 50% - - - NULL FAT3 120114 genome.wustl.edu 37 11 92085930 92085930 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008781.2 +1 validated p.R218* 0.986 234 0% 209 34.4% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92086173 92086173 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008781.2 +1 validated p.E299K 0.996 129 0% 147 21.1% 0 - possibly_damaging(0.659) tolerated(0.83) neutral(0.233) superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92087832 92087832 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008781.2 +1 validated p.Q852K 1.000 150 0% 143 34.3% 0 - benign(0.096) tolerated(0.87) neutral(0.007) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92088385 92088385 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008781.2 +1 validated p.E1036G 1.000 131 0% 112 25.9% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases FAT3 120114 genome.wustl.edu 37 11 92495264 92495264 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008781.2 +1 validated p.F1304L 1.000 604 0% 582 30.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92534402 92534402 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008781.2 +1 validated p.S2741 1.000 88 0% 52 23.1% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92577516 92577516 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008781.2 +1 validated p.F3661 0.771 65 0% 73 32.9% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases SLC36A4 120103 genome.wustl.edu 37 11 92895893 92895893 + Nonsense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152313.2 -1 provisional p.L339* 1.000 154 0% 117 21.4% 0 - - - - HMMPfam_Aa_trans CCDC67 159989 genome.wustl.edu 37 11 93127693 93127693 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181645.3 +1 validated p.I370 1.000 61 0% 80 33.8% 0 - - - - NULL TAF1D 79101 genome.wustl.edu 37 11 93471479 93471479 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024116.3 -1 validated p.K85 0.066 173 0% 203 32% 5 60% - - - NULL MED17 9440 genome.wustl.edu 37 11 93526934 93526934 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004268.4 +1 reviewed p.K226N 1.000 92 0% 82 24.4% 0 - probably_damaging(0.996) tolerated(0.13) deleterious(0.714) HMMPfam_DUF2364 AMOTL1 154810 genome.wustl.edu 37 11 94533475 94533475 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130847.2 +1 reviewed p.T373 0.844 406 0% 389 28.5% 4 0% - - - NULL ENDOD1 23052 genome.wustl.edu 37 11 94862071 94862071 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015036.2 +1 validated p.E277D 1.000 196 0% 198 25.8% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF54060 SESN3 143686 genome.wustl.edu 37 11 94922974 94922974 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144665.2 -1 provisional p.R165Q 1.000 195 0% 188 30.9% 0 - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_PA26 MAML2 84441 genome.wustl.edu 37 11 95825221 95825221 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032427.1 -1 validated p.Q658H 0.104 16 0% 15 33.3% 7 57.1% unknown(0) deleterious(0) - NULL MAML2 84441 genome.wustl.edu 37 11 95825993 95825993 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032427.1 -1 validated p.S401L 0.998 44 0% 46 23.9% 0 - unknown(0) deleterious(0.03) - NULL CCDC82 79780 genome.wustl.edu 37 11 96106628 96106628 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024725.3 -1 validated p.S332Y 1.000 117 0% 122 32% 1 0% possibly_damaging(0.907) tolerated(0.06) deleterious(0.683) NULL CCDC82 79780 genome.wustl.edu 37 11 96117770 96117770 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024725.3 -1 validated p.E48* 0.998 116 0% 152 17.8% 0 - - - - NULL CCDC82 79780 genome.wustl.edu 37 11 96117820 96117820 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024725.3 -1 validated p.R31I 1.000 92 0% 136 33.8% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL CNTN5 53942 genome.wustl.edu 37 11 100126592 100126592 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014361.2 +1 reviewed p.S702 1.000 230 0% 208 26.4% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III KIAA1377 57562 genome.wustl.edu 37 11 101793445 101793445 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020802.2 +1 validated p.R68* 1.000 59 0% 47 29.8% 0 - - - - NULL KIAA1377 57562 genome.wustl.edu 37 11 101863517 101863517 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020802.2 +1 validated p.E1085* 1.000 69 0% 62 27.4% 1 0% - - - NULL YAP1 10413 genome.wustl.edu 37 11 101984930 101984930 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130145.1 +1 reviewed p.H126R 1.000 112 0% 93 31.2% 7 85.7% probably_damaging(0.992) tolerated(0.21) deleterious(0.491) NULL BIRC2 329 genome.wustl.edu 37 11 102233636 102233636 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001166.3 +1 reviewed p.F335L 1.000 156 0% 126 36.5% 9 66.6% benign(0.021) deleterious(0.01) neutral(0.407) HMMPfam_BIR,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,superfamily_SSF57924 MMP8 4317 genome.wustl.edu 37 11 102593330 102593330 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002424.2 -1 reviewed p.I59 0.003 199 0.5% 238 15.1% 0 - - - - HMMPfam_PG_binding_1,superfamily_PGBD_like MMP1 4312 genome.wustl.edu 37 11 102661190 102661190 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002421.3 -1 reviewed p.L455V 0.001 113 0% 69 20.3% 0 - benign(0) tolerated(1) - superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX MMP13 4322 genome.wustl.edu 37 11 102815082 102815082 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002427.3 -1 reviewed p.F443L 1.000 300 0% 209 26.3% 0 - benign(0.005) tolerated(0.18) neutral(0.056) superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX DYNC2H1 79659 genome.wustl.edu 37 11 102995846 102995846 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080463.1 +1 reviewed p.R560Q 0.960 79 0% 67 22.4% 0 - benign(0.051) tolerated(0.06) neutral(0.326) HMMPfam_DHC_N1 DYNC2H1 79659 genome.wustl.edu 37 11 103004395 103004395 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080463.1 +1 reviewed p.N689H 1.000 123 0% 100 31% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DYNC2H1 79659 genome.wustl.edu 37 11 103005064 103005064 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080463.1 +1 reviewed p.M707I 1.000 216 0% 201 24.9% 0 - benign(0.212) tolerated(0.24) neutral(0.058) NULL DYNC2H1 79659 genome.wustl.edu 37 11 103052551 103052551 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080463.1 +1 reviewed p.R2138I 0.999 49 0% 43 30.2% 0 - probably_damaging(0.98) deleterious(0.02) deleterious(0.807) superfamily_P-loop containing nucleoside triphosphate hydrolases DYNC2H1 79659 genome.wustl.edu 37 11 103128375 103128375 + Missense_Mutation SNP C C G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080463.1 +1 reviewed p.S3507R 1.000 71 0% 43 11.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DYNC2H1 79659 genome.wustl.edu 37 11 103325961 103325961 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080463.1 +1 reviewed p.L4175 0.810 124 0.8% 72 26.4% 1 0% - - - HMMPfam_Dynein_heavy GRIA4 2893 genome.wustl.edu 37 11 105481745 105481745 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000829.3 +1 reviewed p.Q7H 1.000 59 0% 55 10.9% 0 - benign(0) tolerated(0.11) neutral(0.272) NULL GRIA4 2893 genome.wustl.edu 37 11 105483060 105483060 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000829.3 +1 reviewed p.F49C 1.000 146 0% 150 24.7% 0 - probably_damaging(0.968) tolerated(0.18) neutral(0.466) HMMPfam_ANF_receptor,superfamily_SSF53822 GRIA4 2893 genome.wustl.edu 37 11 105795445 105795445 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000829.3 +1 reviewed p.L599 1.000 151 0% 120 18.3% 0 - - - - HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 KBTBD3 143879 genome.wustl.edu 37 11 105924013 105924013 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152433.3 -1 validated p.A468V 1.000 122 0% 115 24.3% 2 0% possibly_damaging(0.799) tolerated(0.08) deleterious(0.601) superfamily_Galactose oxidase central domain KBTBD3 143879 genome.wustl.edu 37 11 105924846 105924846 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152433.3 -1 validated p.F190L 1.000 78 0% 104 18.3% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_BACK AASDHPPT 60496 genome.wustl.edu 37 11 105950307 105950307 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015423.2 +1 reviewed p.S99 0.369 128 0% 104 25% 8 37.5% - - - superfamily_4-PPT_transf CWF19L2 143884 genome.wustl.edu 37 11 107263518 107263518 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152434.2 -1 validated p.R574I 0.999 151 0% 107 33.6% 3 100% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL NPAT 4863 genome.wustl.edu 37 11 108043709 108043709 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002519.2 -1 validated p.E668* 1.000 193 0% 151 29.1% 0 - - - - NULL NPAT 4863 genome.wustl.edu 37 11 108056019 108056019 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002519.2 -1 validated p.K282 0.884 56 0% 48 27.1% 0 - - - - NULL NPAT 4863 genome.wustl.edu 37 11 108057211 108057211 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002519.2 -1 validated p.K242Q 1.000 60 0% 58 37.9% 1 0% probably_damaging(0.991) tolerated(0.28) deleterious(0.476) NULL ATM 472 genome.wustl.edu 37 11 108115600 108115600 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000051.3 +1 reviewed p.R250* 0.997 180 0% 149 28.2% 0 - - - - NULL ATM 472 genome.wustl.edu 37 11 108203492 108203492 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000051.3 +1 reviewed p.R2598* 1.000 104 0% 98 30.6% 1 0% - - - superfamily_ARM repeat C11orf65 160140 genome.wustl.edu 37 11 108263972 108263972 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152587.3 -1 validated p.E232* 1.000 266 0% 189 31.7% 2 0% - - - NULL C11orf65 160140 genome.wustl.edu 37 11 108302475 108302475 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152587.3 -1 validated p.E58* 1.000 260 0% 184 13% 0 - - - - NULL KDELC2 143888 genome.wustl.edu 37 11 108361799 108361799 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153705.4 -1 validated p.F100L 1.000 79 0% 84 26.2% 1 100% benign(0.156) tolerated(0.11) neutral(0.286) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin EXPH5 23086 genome.wustl.edu 37 11 108382340 108382340 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015065.2 -1 validated p.Q1298H 0.000 165 0% 157 21% 0 - benign(0.31) deleterious(0.01) deleterious(0.502) NULL EXPH5 23086 genome.wustl.edu 37 11 108384596 108384596 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015065.2 -1 validated p.E546D 0.012 261 0% 187 16% 0 - possibly_damaging(0.913) deleterious(0) deleterious(0.809) NULL RDX 5962 genome.wustl.edu 37 11 110108359 110108359 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002906.3 -1 reviewed p.R370Q 0.717 263 0% 168 22% 1 0% benign(0.019) tolerated(0.45) neutral(0.013) HMMPfam_ERM ARHGAP20 57569 genome.wustl.edu 37 11 110461423 110461423 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020809.2 -1 validated p.V418 0.000 139 0% 81 28.4% 0 - - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP LOC120364 120364 genome.wustl.edu 37 11 110658959 110658959 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_062025.5 -1 model p.K247N 0.044 97 0% 104 34.6% 0 - - - - NULL LOC120364 120364 genome.wustl.edu 37 11 110659360 110659360 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_062025.5 -1 model p.E114* 1.000 153 0% 127 20.5% 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD LOC120364 120364 genome.wustl.edu 37 11 110659416 110659416 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_062025.5 -1 model p.S95Y 0.937 143 0.7% 126 23% 0 - - - - NULL DLAT 1737 genome.wustl.edu 37 11 111899361 111899361 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001931.4 +1 reviewed p.G168 0.991 130 0% 139 25.2% 0 - - - - superfamily_Single hybrid motif TTC12 54970 genome.wustl.edu 37 11 113209523 113209523 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017868.3 +1 validated p.E202* 1.000 398 0% 397 28% 1 100% - - - HMMPfam_TPR_1,PatternScan_CPSASE_2,superfamily_ARM-type_fold,HMMSmart_TPR,superfamily_SSF48452 ANKK1 255239 genome.wustl.edu 37 11 113265662 113265662 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178510.1 +1 reviewed p.F164 0.990 44 0% 48 12.5% 1 0% - - - superfamily_Kinase_like,HMMPfam_Pkinase ZW10 9183 genome.wustl.edu 37 11 113610102 113610102 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004724.2 -1 reviewed p.E529G 1.000 140 0.7% 164 26.2% 10 20% probably_damaging(0.957) deleterious(0.02) deleterious(0.784) HMMPfam_Zw10 LOC390251 390251 genome.wustl.edu 37 11 113660804 113660804 + RNA SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_016610.3 +1 model NULL 0.624 5 0.000 7 0.571 0 - - - - - HTR3A 3359 genome.wustl.edu 37 11 113848610 113848610 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_213621.3 +1 reviewed p.S62F 1.000 114 0% 66 36.4% 0 - benign(0.018) tolerated(0.1) neutral(0.287) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD FAM55B 120406 genome.wustl.edu 37 11 114569455 114569455 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182495.5 +1 validated p.R274I 0.014 105 0% 136 25% 1 0% benign(0.071) tolerated(0.18) neutral(0.061) NULL ZNF259 8882 genome.wustl.edu 37 11 116658317 116658317 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003904.3 -1 provisional p.E72* 1.000 37 0% 90 30% 11 9% - - - HMMPfam_zf-ZPR1,HMMSmart_Zpr1 SIDT2 51092 genome.wustl.edu 37 11 117052604 117052604 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040455.1 +1 validated p.F129L 1.000 57 0% 55 36.4% 5 60% benign(0) tolerated(0.7) neutral(0.002) NULL SIDT2 51092 genome.wustl.edu 37 11 117063357 117063357 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040455.1 +1 validated p.P683 0.999 30 0% 30 36.7% 33 27.2% - - - NULL TAGLN 6876 genome.wustl.edu 37 11 117074094 117074094 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001522.1 +1 reviewed p.P84 0.994 90 0% 82 15.9% 287 0.6% - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain PCSK7 9159 genome.wustl.edu 37 11 117077469 117077469 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004716.2 -1 reviewed p.F642 1.000 152 0% 174 19% 38 7.8% - - - NULL DSCAML1 57453 genome.wustl.edu 37 11 117389196 117389196 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020693.2 -1 provisional p.R559* 1.000 70 0% 78 30.8% 0 - - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ENSG00000244817 0 genome.wustl.edu 37 11 118183041 118183041 + RNA SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000501549 -1 known NULL 0.000 144 0% 127 28.3% 0 - - - - - UBE4A 9354 genome.wustl.edu 37 11 118239407 118239407 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004788.2 +1 reviewed p.F61 1.000 525 0% 559 18.8% 1 0% - - - NULL UBE4A 9354 genome.wustl.edu 37 11 118243914 118243914 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004788.2 +1 reviewed p.R286* 0.997 173 0% 128 26.6% 0 - - - - NULL MLL 4297 genome.wustl.edu 37 11 118352561 118352561 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005933.2 +1 validated p.K1256Q 1.000 192 0% 223 27.8% 2 0% possibly_damaging(0.922) - - NULL MLL 4297 genome.wustl.edu 37 11 118375452 118375452 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005933.2 +1 validated p.P2946S 0.970 285 0% 271 29.2% 0 - benign(0) - - NULL MLL 4297 genome.wustl.edu 37 11 118390405 118390405 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005933.2 +1 validated p.A3737V 1.000 137 0% 165 26.7% 5 100% probably_damaging(0.99) - - HMMPfam_FYRC,HMMSmart_SM00542 DDX6 1656 genome.wustl.edu 37 11 118636040 118636040 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004397.4 -1 reviewed p.E175* 1.000 555 0% 559 19.5% 6 0% - - - HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 HYOU1 10525 genome.wustl.edu 37 11 118925751 118925751 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130991.1 -1 reviewed p.E147D 1.000 60 0% 77 26% 17 23.5% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_HSP70,superfamily_Actin-like ATPase domain HMBS 3145 genome.wustl.edu 37 11 118959935 118959935 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000190.3 +1 reviewed p.E73D 1.000 167 0% 147 23.1% 9 66.6% probably_damaging(0.999) tolerated(0.93) deleterious(0.490) HMMPfam_Porphobil_deam,superfamily_Periplasmic binding protein-like II MCAM 4162 genome.wustl.edu 37 11 119183659 119183659 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006500.2 -1 validated p.R187Q 0.951 49 0% 41 26.8% 7 57.1% unknown(0) tolerated(0.06) - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin LOC100130353 100130353 genome.wustl.edu 37 11 119274568 119274568 + RNA SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_078444.1 +1 model NULL 0.067 79 0% 48 22.9% 0 - - - - - POU2F3 25833 genome.wustl.edu 37 11 120178282 120178282 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014352.2 +1 validated p.I288 0.509 124 0% 133 24.8% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like ARHGEF12 23365 genome.wustl.edu 37 11 120300510 120300510 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015313.1 +1 reviewed p.E251 1.000 242 0% 232 28% 0 - - - - NULL ARHGEF12 23365 genome.wustl.edu 37 11 120308042 120308042 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015313.1 +1 reviewed p.R317I 1.000 250 0% 201 27.4% 0 - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL ARHGEF12 23365 genome.wustl.edu 37 11 120317210 120317210 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015313.1 +1 reviewed p.D482Y 1.000 116 0% 111 26.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RGS-like,superfamily_Regulator of G-protein signaling RGS ARHGEF12 23365 genome.wustl.edu 37 11 120322337 120322337 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015313.1 +1 reviewed p.E654* 0.998 55 0% 51 27.5% 3 0% - - - NULL TECTA 7007 genome.wustl.edu 37 11 120996030 120996030 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005422.2 +1 reviewed p.S408Y 1.000 119 0% 222 21.2% 0 - possibly_damaging(0.836) tolerated(0.35) neutral(0.340) HMMPfam_VWD,HMMSmart_SM00216 CRTAM 56253 genome.wustl.edu 37 11 122738794 122738794 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019604.2 +1 validated p.E346D 1.000 64 0% 58 19% 1 0% probably_damaging(0.998) tolerated(0.19) deleterious(0.524) NULL C11orf63 79864 genome.wustl.edu 37 11 122805768 122805768 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024806.2 +1 validated p.N540S 0.965 255 0% 175 32% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL BSX 390259 genome.wustl.edu 37 11 122850078 122850078 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098169.1 -1 validated p.F117S 1.000 18 0% 48 22.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like CLMP 79827 genome.wustl.edu 37 11 122954482 122954482 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024769.2 -1 validated p.E154D 0.999 107 0% 130 29.2% 0 - benign(0.156) tolerated(0.08) neutral(0.314) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 OR10G4 390264 genome.wustl.edu 37 11 123887166 123887166 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004462.1 +1 provisional p.K295N 0.134 234 0% 124 20.2% 0 - probably_damaging(0.97) deleterious(0.01) deleterious(0.818) superfamily_SSF81321 OR8G5 219865 genome.wustl.edu 37 11 124120989 124120989 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000341493 +1 known p.C189* 0.194 377 0% 399 30.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8D2 283160 genome.wustl.edu 37 11 124189907 124189907 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001002918.1 -1 provisional p.L63I 0.894 472 0% 482 22.8% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8B3 390271 genome.wustl.edu 37 11 124266944 124266944 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005467.1 -1 provisional p.F102L 0.902 279 0% 313 29.7% 0 - possibly_damaging(0.657) deleterious(0.01) deleterious(0.637) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8B4 283162 genome.wustl.edu 37 11 124293973 124293973 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005196.1 -1 provisional p.G265 0.000 133 0% 116 30.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR8B8 26493 genome.wustl.edu 37 11 124310957 124310957 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012378.1 -1 provisional p.V9M 0.000 235 0.4% 202 28.7% 0 - benign(0.043) deleterious(0.01) neutral(0.408) superfamily_Family A G protein-coupled receptor-like OR8B12 219858 genome.wustl.edu 37 11 124413511 124413511 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005195.1 -1 provisional p.E14K 0.000 189 0% 188 22.9% 0 - benign(0.025) tolerated(0.33) neutral(0.025) superfamily_Family A G protein-coupled receptor-like HEPN1 641654 genome.wustl.edu 37 11 124789725 124789725 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037558.2 +1 provisional p.G27R 0.001 80 0% 62 19.4% 0 - possibly_damaging(0.931) - - NULL HEPACAM 220296 genome.wustl.edu 37 11 124793632 124793632 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152722.4 -1 validated p.T234 0.934 82 0% 84 29.8% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin HEPACAM 220296 genome.wustl.edu 37 11 124794791 124794791 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152722.4 -1 validated p.V87A 1.000 81 0% 72 25% 0 - possibly_damaging(0.889) deleterious(0.04) deleterious(0.698) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ACRV1 56 genome.wustl.edu 37 11 125542516 125542516 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001612.4 -1 reviewed p.R257Q 0.537 431 0% 498 30.3% 0 - possibly_damaging(0.439) tolerated(0.21) neutral(0.187) NULL PUS3 83480 genome.wustl.edu 37 11 125765268 125765268 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031307.3 -1 validated p.C265 0.996 115 0% 104 27.9% 8 50% - - - HMMPfam_PseudoU_synth_1,superfamily_PsdUridine_synth_cat_dom KCNJ1 3758 genome.wustl.edu 37 11 128709962 128709962 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000220.2 -1 reviewed p.R78S 0.980 132 0% 177 26% 0 - possibly_damaging(0.705) deleterious(0) deleterious(0.699) HMMPfam_IRK,superfamily_Voltage-gated potassium channels ARHGAP32 9743 genome.wustl.edu 37 11 128840352 128840352 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142685.1 -1 validated p.E1572K 0.974 79 0% 35 20% 12 25% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL ARHGAP32 9743 genome.wustl.edu 37 11 128840628 128840628 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142685.1 -1 validated p.D1480N 0.995 78 0% 63 33.3% 11 9% possibly_damaging(0.888) deleterious(0) deleterious(0.792) NULL PRDM10 56980 genome.wustl.edu 37 11 129784891 129784891 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020228.2 -1 reviewed p.R854Q 1.000 194 0% 186 30.6% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PRDM10 56980 genome.wustl.edu 37 11 129788528 129788528 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020228.2 -1 reviewed p.K711T 1.000 357 0.3% 402 19.7% 2 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ADAMTS8 11095 genome.wustl.edu 37 11 130275705 130275705 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007037.4 -1 reviewed p.F806L 1.000 286 0% 279 30.5% 67 64.1% possibly_damaging(0.919) deleterious(0) deleterious(0.814) HMMPfam_ADAM_spacer1 IGSF9B 22997 genome.wustl.edu 37 11 133795684 133795684 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014987.1 -1 validated p.D662N 0.997 24 0% 13 30.8% 0 - possibly_damaging(0.762) tolerated(0.35) neutral(0.303) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like JAM3 83700 genome.wustl.edu 37 11 134014272 134014272 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032801.3 +1 reviewed p.I176 0.559 205 0% 201 32.3% 3 0% - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ACAD8 27034 genome.wustl.edu 37 11 134126991 134126991 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014384.2 +1 reviewed p.P74S 1.000 71 0% 77 23.4% 6 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Acyl-CoA_dh_N,superfamily_AcylCoA_dehyd_NM KDM5A 5927 genome.wustl.edu 37 12 406220 406220 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042603.1 -1 reviewed p.K1407N 1.000 196 0% 192 30.7% 1 100% probably_damaging(0.997) deleterious(0.04) deleterious(0.815) NULL KDM5A 5927 genome.wustl.edu 37 12 427491 427491 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042603.1 -1 reviewed p.R893Q 1.000 396 0% 235 20% 5 0% benign(0.06) tolerated(0.58) neutral(0.009) HMMPfam_PLU-1 WNK1 65125 genome.wustl.edu 37 12 994504 994504 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018979.3 +1 reviewed p.S1512R 1.000 443 0.2% 385 29.6% 16 50% unknown(0) deleterious(0) - NULL ADIPOR2 79602 genome.wustl.edu 37 12 1895195 1895195 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024551.2 +1 validated p.R373H 1.000 220 0% 195 39.5% 2 50% probably_damaging(0.992) deleterious(0.04) deleterious(0.796) NULL CACNA2D4 93589 genome.wustl.edu 37 12 1988187 1988187 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_172364.4 -1 reviewed p.L527I 1.000 32 0% 44 36.4% 0 - probably_damaging(0.993) tolerated(0.34) deleterious(0.473) HMMPfam_Cache_1 CACNA2D4 93589 genome.wustl.edu 37 12 2016688 2016688 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_172364.4 -1 reviewed p.V233 0.881 57 0% 55 25.5% 0 - - - - HMMPfam_VWA_N DCP1B 196513 genome.wustl.edu 37 12 2062038 2062038 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152640.3 -1 validated p.F356 0.004 155 0% 106 28.3% 5 40% - - - NULL CACNA1C 775 genome.wustl.edu 37 12 2717779 2717779 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_199460.2 +1 reviewed p.I1173 0.984 28 0% 39 33.3% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1C 775 genome.wustl.edu 37 12 2760764 2760764 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001129829.1 +1 reviewed p.L1324F 0.000 75 0% 93 30.1% 0 - benign(0.113) deleterious(0.04) neutral(0.358) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TSPAN9 10867 genome.wustl.edu 37 12 3387672 3387672 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006675.4 +1 reviewed p.S50L 1.000 35 0% 52 26.9% 25 44% probably_damaging(0.986) tolerated(0.39) neutral(0.451) HMMPfam_Tetraspannin EFCAB4B 84766 genome.wustl.edu 37 12 3782661 3782661 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001144958.1 -1 validated p.L208F 1.000 163 0% 110 26.4% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL PARP11 57097 genome.wustl.edu 37 12 3921314 3921314 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020367.4 -1 validated p.P331L 1.000 396 0% 336 28% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PARP,superfamily_ADP-ribosylation C12orf4 57102 genome.wustl.edu 37 12 4626353 4626353 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020374.2 -1 predicted p.F346V 1.000 390 0% 229 23.6% 4 75% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_DUF2362 GALNT8 26290 genome.wustl.edu 37 12 4835763 4835763 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017417.1 +1 reviewed p.D93Y 0.000 186 0% 167 22.2% 0 - benign(0) deleterious(0.01) neutral(0.406) NULL GALNT8 26290 genome.wustl.edu 37 12 4853685 4853685 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017417.1 +1 reviewed p.E227* 1.000 124 0% 98 30.6% 0 - - - - HMMPfam_Glycos_transf_2,superfamily_SSF53448 KCNA6 3742 genome.wustl.edu 37 12 4919849 4919849 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002235.3 +1 reviewed p.V214 0.000 78 0% 86 20.9% 0 - - - - superfamily_SSF81324 KCNA5 3741 genome.wustl.edu 37 12 5154291 5154291 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002234.2 +1 reviewed p.I326 0.184 37 0% 45 24.4% 0 - - - - superfamily_Voltage-gated potassium channels NTF3 4908 genome.wustl.edu 37 12 5604142 5604142 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001102654.1 +1 reviewed p.I267 0.689 76 1.3% 101 23.8% 0 - - - - HMMPfam_NGF,superfamily_SSF57501 ANO2 57101 genome.wustl.edu 37 12 5860027 5860027 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020373.2 -1 validated p.A385S 1.000 62 0% 49 46.9% 0 - possibly_damaging(0.49) tolerated(0.07) deleterious(0.482) NULL VWF 7450 genome.wustl.edu 37 12 6127975 6127975 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000552.3 -1 reviewed p.V1537I 0.852 67 0% 68 22.1% 1 0% benign(0.001) tolerated(0.94) - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like VWF 7450 genome.wustl.edu 37 12 6184581 6184581 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000552.3 -1 reviewed p.C265Y 0.772 21 0% 31 45.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C8 NCAPD2 9918 genome.wustl.edu 37 12 6626175 6626175 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014865.3 +1 validated p.R390Q 0.974 190 0% 228 24.1% 6 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) superfamily_ARM repeat LAG3 3902 genome.wustl.edu 37 12 6884498 6884498 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002286.5 +1 reviewed p.P281S 1.000 133 0% 138 29.7% 105 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 CD4 920 genome.wustl.edu 37 12 6909520 6909520 + Nonsense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000616.3 +1 validated p.K33* 0.002 72 0% 78 30.8% 2 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin USP5 8078 genome.wustl.edu 37 12 6970645 6970645 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098536.1 +1 validated p.E513K 0.938 32 0% 53 30.2% 34 26.4% benign(0.011) tolerated(0.19) neutral(0.050) HMMPfam_UCH,superfamily_Cysteine proteinases TPI1 7167 genome.wustl.edu 37 12 6978921 6978921 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000365.5 +1 reviewed p.T176N 1.000 54 0% 92 23.9% 1377 31.2% benign(0.081) deleterious(0) neutral(0.451) HMMPfam_TIM,superfamily_Triosephosphate isomerase (TIM) C1S 716 genome.wustl.edu 37 12 7174372 7174372 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001734.3 +1 reviewed p.S339 0.860 115 0% 100 24% 74 6.7% - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module PEX5 5830 genome.wustl.edu 37 12 7360319 7360319 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001131023.1 +1 reviewed p.R359Q 0.999 113 0% 104 28.8% 7 28.5% benign(0.01) tolerated(0.36) neutral(0.021) superfamily_SSF48452 CD163L1 283316 genome.wustl.edu 37 12 7527243 7527243 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174941.4 -1 reviewed p.S1068 0.099 159 0% 203 32% 6 0% - - - HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like CD163L1 283316 genome.wustl.edu 37 12 7548800 7548800 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174941.4 -1 reviewed p.L647 0.913 347 0.3% 286 35% 0 - - - - HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like CD163 9332 genome.wustl.edu 37 12 7639969 7639969 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004244.4 -1 validated p.S679F 0.999 136 0% 101 29.7% 4 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like CD163 9332 genome.wustl.edu 37 12 7655079 7655079 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004244.4 -1 validated p.S43Y 0.921 99 0% 97 15.5% 0 - possibly_damaging(0.906) deleterious(0) deleterious(0.804) NULL APOBEC1 339 genome.wustl.edu 37 12 7802217 7802217 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001644.3 -1 reviewed p.C213G 0.825 90 0% 102 28.4% 0 - probably_damaging(0.957) deleterious(0) deleterious(0.845) NULL APOBEC1 339 genome.wustl.edu 37 12 7805253 7805253 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001644.3 -1 reviewed p.D75Y 0.001 62 0% 99 31.3% 0 - benign(0) tolerated(1) - HMMPfam_APOBEC_N,PatternScan_CYT_DCMP_DEAMINASES,superfamily_Cytidine_deaminase-like DPPA3 359787 genome.wustl.edu 37 12 7867847 7867847 + Missense_Mutation SNP G G A rs41449345 byCluster;byFrequency TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_199286.2 +1 reviewed p.E51K 0.000 87 0% 66 22.7% 0 - benign(0.071) tolerated(1) neutral(0.005) NULL DPPA3 359787 genome.wustl.edu 37 12 7867981 7867981 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_199286.2 +1 reviewed p.K95N 0.000 48 0% 64 40.6% 0 - benign(0.141) tolerated(0.08) neutral(0.312) NULL NANOGP1 404635 genome.wustl.edu 37 12 8051354 8051354 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000316043 +1 known p.S185Y 0.020 87 0% 135 15.6% 0 - possibly_damaging(0.741) tolerated(0.4) neutral(0.288) NULL SLC2A3 6515 genome.wustl.edu 37 12 8083212 8083212 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006931.2 -1 validated p.G179 0.003 181 0% 154 29.2% 6 0% - - - HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter FOXJ2 55810 genome.wustl.edu 37 12 8197460 8197460 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018416.2 +1 validated p.F241L 1.000 422 0% 471 32.1% 1 100% benign(0.073) tolerated(0.8) neutral(0.005) NULL C3AR1 719 genome.wustl.edu 37 12 8212164 8212164 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004054.2 -1 validated p.E206D 0.024 401 0% 461 22.8% 0 - benign(0.002) tolerated(0.4) neutral(0.016) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CLEC4D 338339 genome.wustl.edu 37 12 8667901 8667901 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080387.4 +1 reviewed p.V33A 0.731 204 0% 191 27.7% 2 0% benign(0) tolerated(0.98) - NULL CLEC4E 26253 genome.wustl.edu 37 12 8689804 8689804 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014358.2 -1 reviewed p.F93L 0.997 264 0% 232 28% 2 0% benign(0.004) tolerated(0.24) neutral(0.037) HMMSmart_SM00034,superfamily_C-type lectin-like MFAP5 8076 genome.wustl.edu 37 12 8803172 8803172 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003480.2 -1 reviewed p.E87D 1.000 95 0% 121 20.7% 3 0% probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_MAGP A2ML1 144568 genome.wustl.edu 37 12 9002850 9002850 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144670.3 +1 validated p.L738 1.000 307 0% 401 35.7% 0 - - - - HMMPfam_A2M A2ML1 144568 genome.wustl.edu 37 12 9013872 9013872 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144670.3 +1 validated p.D1161Y 0.995 251 0% 199 23.6% 0 - possibly_damaging(0.799) tolerated(0.07) deleterious(0.620) superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp A2M 2 genome.wustl.edu 37 12 9260133 9260133 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000014.4 -1 reviewed p.K289T 0.995 153 0% 135 30.4% 7 0% benign(0.11) tolerated(0.08) neutral(0.308) NULL PZP 5858 genome.wustl.edu 37 12 9349281 9349281 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002864.2 -1 validated p.L290I 0.319 156 0% 105 21% 0 - benign(0.222) deleterious(0.05) neutral(0.367) NULL DDX12P 440081 genome.wustl.edu 37 12 9580249 9580249 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000432996 -1 known p.D488N 1.000 52 0% 62 16.1% 3 0% - - - NULL GABARAPL1 23710 genome.wustl.edu 37 12 10373069 10373069 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031412.2 +1 validated p.R67I 1.000 156 0% 157 28% 19 52.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAP1_LC3,superfamily_Ubiquitin-like KLRC1 3821 genome.wustl.edu 37 12 10602524 10602524 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002259.4 -1 reviewed p.R109I 0.001 54 0% 29 31% 2 0% possibly_damaging(0.927) deleterious(0) deleterious(0.820) NULL TAS2R7 50837 genome.wustl.edu 37 12 10955028 10955028 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023919.2 -1 reviewed p.L48I 0.986 204 0% 213 30.5% 0 - possibly_damaging(0.859) deleterious(0.02) deleterious(0.715) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R14 50840 genome.wustl.edu 37 12 11091325 11091325 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023922.1 -1 reviewed p.R161I 0.003 166 0% 176 15.9% 0 - benign(0.006) tolerated(0.11) neutral(0.272) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R46 259292 genome.wustl.edu 37 12 11214528 11214528 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176887.2 -1 validated p.K122N 0.015 516 0% 443 21.4% 0 - benign(0.405) deleterious(0.01) deleterious(0.536) HMMPfam_TAS2R,superfamily_SSF81321 PRB3 5544 genome.wustl.edu 37 12 11420893 11420893 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000279573 -1 known p.G97V 0.001 582 0% 675 15.4% 0 - unknown(0) deleterious(0.01) - NULL PRB4 5545 genome.wustl.edu 37 12 11461396 11461396 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002723.3 -1 reviewed p.R174Q 0.000 910 0% 819 29.2% 0 - unknown(0) tolerated(0.64) - NULL PRB2 653247 genome.wustl.edu 37 12 11548411 11548411 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006248.3 -1 validated p.N18T 0.002 548 0% 418 18.7% 0 - unknown(0) tolerated(0.31) - NULL LRP6 4040 genome.wustl.edu 37 12 12284808 12284808 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002336.2 -1 reviewed p.R1306Q 1.000 212 0% 231 26% 4 0% benign(0.015) tolerated(0.32) neutral(0.025) HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module LRP6 4040 genome.wustl.edu 37 12 12315300 12315300 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002336.2 -1 reviewed p.F702 0.005 336 0% 271 27.3% 4 50% - - - HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain LRP6 4040 genome.wustl.edu 37 12 12317235 12317235 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002336.2 -1 reviewed p.R675Q 1.000 150 0% 148 29.1% 0 - probably_damaging(0.998) tolerated(0.08) deleterious(0.774) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain MANSC1 54682 genome.wustl.edu 37 12 12491392 12491392 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018050.2 -1 validated p.K109R 1.000 277 0% 320 35.6% 13 15.3% probably_damaging(0.995) tolerated(0.13) deleterious(0.710) HMMPfam_MANEC,HMMSmart_MANEC DUSP16 80824 genome.wustl.edu 37 12 12630251 12630251 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030640.2 -1 reviewed p.R505Q 0.494 118 0.8% 64 40.6% 10 60% probably_damaging(0.959) deleterious(0.04) deleterious(0.752) NULL GSG1 83445 genome.wustl.edu 37 12 13243734 13243734 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080555.1 -1 validated p.F23V 0.000 82 0% 99 24.2% 0 - benign(0.002) tolerated(0.56) neutral(0.006) HMMPfam_GSG-1 GRIN2B 2904 genome.wustl.edu 37 12 13716018 13716018 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000834.3 -1 reviewed p.N1385S 1.000 47 0% 35 14.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_NMDAR2_C GRIN2B 2904 genome.wustl.edu 37 12 13716909 13716909 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000834.3 -1 reviewed p.S1088N 1.000 36 0% 40 25% 0 - probably_damaging(0.99) tolerated(0.47) neutral(0.453) HMMPfam_NMDAR2_C GRIN2B 2904 genome.wustl.edu 37 12 13906427 13906427 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000834.3 -1 reviewed p.I278 1.000 288 0% 247 28.7% 0 - - - - superfamily_SSF53822 GRIN2B 2904 genome.wustl.edu 37 12 13906732 13906732 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000834.3 -1 reviewed p.P177T 1.000 438 0% 419 25.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SSF53822 ATF7IP 55729 genome.wustl.edu 37 12 14576842 14576842 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018179.3 +1 validated e1-1 1.000 144 0% 82 24.4% 0 - - - - - EPS8 2059 genome.wustl.edu 37 12 15784573 15784573 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004447.5 -1 reviewed p.R616I 0.055 121 0% 177 24.3% 45 48.8% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL DERA 51071 genome.wustl.edu 37 12 16185508 16185508 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015954.2 +1 validated p.E224* 1.000 22 0% 26 50% 3 0% - - - HMMPfam_DeoC,superfamily_SSF51569 PIK3C2G 5288 genome.wustl.edu 37 12 18658308 18658308 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004570.4 +1 reviewed p.N1038T 1.000 46 0% 41 12.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like),PatternScan_PI3_4_KINASE_2 PLCZ1 89869 genome.wustl.edu 37 12 18876265 18876265 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033123.2 -1 provisional p.K116T 0.998 118 0% 82 32.9% 0 - benign(0.12) tolerated(0.45) neutral(0.021) HMMPfam_efhand_like,superfamily_EF-hand ENSG00000248116 0 genome.wustl.edu 37 12 19460395 19460395 + RNA SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000510738 +1 novel NULL 0.363 33 0% 31 22.6% 0 - - - - - SLCO1B3 28234 genome.wustl.edu 37 12 21011428 21011428 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019844.2 +1 validated p.P94 0.870 123 0% 120 34.2% 0 - - - - HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO1B3 28234 genome.wustl.edu 37 12 21032478 21032478 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019844.2 +1 validated p.S415L 0.000 167 0.6% 154 29.9% 0 - benign(0.046) deleterious(0.04) neutral(0.351) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO1B3 28234 genome.wustl.edu 37 12 21032525 21032525 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019844.2 +1 validated p.E431K 0.996 177 0% 179 24% 0 - benign(0.047) deleterious(0.05) neutral(0.348) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter LST-3TM12 338821 genome.wustl.edu 37 12 21174514 21174514 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001009562.4 +1 validated p.R113I 0.186 81 0% 50 24% 0 - benign(0.002) deleterious(0.02) neutral(0.383) HMMPfam_OATP,superfamily_MFS general substrate transporter LST-3TM12 338821 genome.wustl.edu 37 12 21242858 21242858 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001009562.4 +1 validated p.L581V 0.000 229 0% 120 31.7% 1 100% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_MFS general substrate transporter SLCO1B1 10599 genome.wustl.edu 37 12 21329721 21329721 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006446.4 +1 reviewed p.S124Y 0.708 299 0% 209 33.5% 0 - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_OATP,superfamily_MFS general substrate transporter RECQL 5965 genome.wustl.edu 37 12 21652550 21652550 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002907.3 -1 reviewed e1-1 1.000 125 0% 94 31.9% 0 - - - - - GYS2 2998 genome.wustl.edu 37 12 21712095 21712095 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021957.3 -1 reviewed p.I413S 1.000 80 0% 57 33.3% 0 - possibly_damaging(0.661) deleterious(0) deleterious(0.678) HMMPfam_Glycogen_syn GYS2 2998 genome.wustl.edu 37 12 21733352 21733352 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021957.3 -1 reviewed p.T76I 1.000 214 0% 177 19.8% 0 - probably_damaging(0.999) tolerated(0.27) deleterious(0.524) HMMPfam_Glycogen_syn,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase ABCC9 10060 genome.wustl.edu 37 12 21953992 21953992 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020297.2 -1 reviewed p.R1546C 1.000 159 0% 102 14.7% 0 - possibly_damaging(0.952) deleterious(0) deleterious(0.840) superfamily_SSF52540 ABCC9 10060 genome.wustl.edu 37 12 21995261 21995261 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005691.2 -1 reviewed p.R1154W 1.000 172 0% 173 32.4% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC9 10060 genome.wustl.edu 37 12 22001138 22001138 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005691.2 -1 reviewed p.R938* 0.998 133 0% 109 11.9% 0 - - - - superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC9 10060 genome.wustl.edu 37 12 22028599 22028599 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005691.2 -1 reviewed p.R694Q 1.000 115 0% 104 25% 0 - benign(0.293) tolerated(0.47) neutral(0.101) superfamily_P-loop containing nucleoside triphosphate hydrolases KIAA0528 9847 genome.wustl.edu 37 12 22627702 22627702 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014802.1 -1 predicted p.D676Y 1.000 246 0% 132 21.2% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL KIAA0528 9847 genome.wustl.edu 37 12 22627729 22627729 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014802.1 -1 predicted p.E667* 1.000 242 0% 134 30.6% 1 0% - - - NULL LRMP 4033 genome.wustl.edu 37 12 25254157 25254157 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006152.2 +1 reviewed p.E263K 1.000 174 0% 155 19.4% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_MRVI1 LYRM5 144363 genome.wustl.edu 37 12 25357236 25357236 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001660.2 +1 validated p.K88T 0.387 170 0% 163 31.9% 13 61.5% benign(0) tolerated(0.24) neutral(0.037) NULL IFLTD1 160492 genome.wustl.edu 37 12 25705862 25705862 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145728.1 -1 validated p.S11L 0.000 62 0% 41 34.1% 0 - benign(0.008) deleterious(0) neutral(0.445) NULL ITPR2 3709 genome.wustl.edu 37 12 26629871 26629871 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002223.2 -1 validated p.L2065I 1.000 116 0% 76 47.4% 2 0% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL ITPR2 3709 genome.wustl.edu 37 12 26640118 26640118 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002223.2 -1 validated p.R1813* 1.000 135 0% 136 31.6% 0 - - - - NULL PPFIBP1 8496 genome.wustl.edu 37 12 27829999 27829999 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003622.2 +1 reviewed p.R529C 1.000 132 0% 103 22.3% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) NULL PPFIBP1 8496 genome.wustl.edu 37 12 27832540 27832540 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003622.2 +1 reviewed p.K578N 1.000 489 0% 377 34.5% 0 - probably_damaging(1) tolerated(0.15) deleterious(0.741) NULL PPFIBP1 8496 genome.wustl.edu 37 12 27841309 27841309 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003622.2 +1 reviewed p.E817* 1.000 360 0% 319 26.6% 4 25% - - - HMMSmart_SAM,superfamily_SAM_homology,HMMPfam_SAM_2 ERGIC2 51290 genome.wustl.edu 37 12 29502984 29502984 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016570.2 -1 validated p.R197H 1.000 84 0% 63 30.2% 35 42.8% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_DUF1692 IPO8 10526 genome.wustl.edu 37 12 30816508 30816508 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006390.2 -1 reviewed p.K503N 1.000 148 0% 152 25% 2 50% possibly_damaging(0.617) tolerated(0.49) neutral(0.225) superfamily_ARM-type_fold IPO8 10526 genome.wustl.edu 37 12 30819120 30819120 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006390.2 -1 reviewed p.K404E 1.000 140 0% 114 36% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_ARM-type_fold CAPRIN2 65981 genome.wustl.edu 37 12 30881897 30881897 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001002259.1 -1 validated p.K489N 0.998 352 0% 332 14.2% 0 - benign(0.008) tolerated(0.28) neutral(0.032) NULL OVOS2 144203 genome.wustl.edu 37 12 31280655 31280655 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343151.1 -1 model p.G1079E 0.691 63 0% 86 25.6% 0 - - - - superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp FAM60A 58516 genome.wustl.edu 37 12 31451044 31451044 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135811.1 -1 validated p.K32T 1.000 137 0% 180 31.1% 5 60% probably_damaging(0.995) tolerated(0.06) deleterious(0.780) NULL DENND5B 160518 genome.wustl.edu 37 12 31540648 31540648 + Silent SNP G G A rs188374345 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144973.3 -1 validated p.S1238 0.050 37 0% 47 29.8% 0 - - - - HMMSmart_SM00593 DENND5B 160518 genome.wustl.edu 37 12 31605149 31605149 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144973.3 -1 validated p.E452* 0.756 330 0% 445 26.3% 0 - - - - NULL C12orf35 55196 genome.wustl.edu 37 12 32136260 32136260 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018169.3 +1 validated p.V791I 0.720 80 0% 83 26.5% 10 40% possibly_damaging(0.582) tolerated(0.1) deleterious(0.486) NULL C12orf35 55196 genome.wustl.edu 37 12 32136502 32136502 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018169.3 +1 validated p.N871 0.000 106 0% 111 14.4% 16 25% - - - NULL FGD4 121512 genome.wustl.edu 37 12 32754345 32754345 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139241.2 +1 reviewed p.R275Q 1.000 258 0% 185 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) DNM1L 10059 genome.wustl.edu 37 12 32884798 32884798 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012062.3 +1 reviewed p.R456Q 1.000 67 0% 75 32% 24 33.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Dynamin_M YARS2 51067 genome.wustl.edu 37 12 32906906 32906906 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040436.1 -1 validated p.S298F 1.000 148 0% 111 18.9% 15 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_1b,superfamily_SSF52374 SYT10 341359 genome.wustl.edu 37 12 33559931 33559931 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198992.2 -1 provisional p.K290N 1.000 225 0% 141 20.6% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB SYT10 341359 genome.wustl.edu 37 12 33560108 33560108 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198992.2 -1 provisional p.I231 1.000 249 0% 153 32% 0 - - - - superfamily_C2_CaLB SYT10 341359 genome.wustl.edu 37 12 33560167 33560167 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198992.2 -1 provisional p.E212* 1.000 265 0% 180 25.6% 0 - - - - NULL ENSG00000245482 0 genome.wustl.edu 37 12 34176636 34176636 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000501954 -1 known NULL 0.012 19 0% 17 23.5% 0 - - - - - ALG10 84920 genome.wustl.edu 37 12 34179674 34179674 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032834.3 +1 reviewed p.R416C 1.000 387 0% 310 29% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DIE2_ALG10 CPNE8 144402 genome.wustl.edu 37 12 39268309 39268309 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153634.2 -1 reviewed p.L35I 1.000 134 0% 101 15.8% 0 - probably_damaging(0.967) deleterious(0) deleterious(0.853) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB KIF21A 55605 genome.wustl.edu 37 12 39734778 39734778 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017641.3 -1 validated p.E667D 1.000 233 0% 189 21.2% 1 0% possibly_damaging(0.717) tolerated(0.2) neutral(0.308) superfamily_WD40 repeat-like KIF21A 55605 genome.wustl.edu 37 12 39745622 39745622 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017641.3 -1 validated p.D544Y 1.000 346 0% 321 28% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIF21A 55605 genome.wustl.edu 37 12 39750644 39750644 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017641.3 -1 validated p.E487K 1.000 132 0% 99 15.2% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL KIF21A 55605 genome.wustl.edu 37 12 39761795 39761795 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017641.3 -1 validated p.R164C 0.994 390 0% 302 25.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases LRRK2 120892 genome.wustl.edu 37 12 40618984 40618984 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198578.3 +1 reviewed p.K17N 1.000 15 0% 17 29.4% 0 - benign(0.167) deleterious(0) neutral(0.460) NULL LRRK2 120892 genome.wustl.edu 37 12 40629501 40629501 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198578.3 +1 reviewed p.L141I 0.973 56 0% 82 28% 0 - probably_damaging(0.961) deleterious(0.01) deleterious(0.810) NULL LRRK2 120892 genome.wustl.edu 37 12 40643638 40643638 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198578.3 +1 reviewed p.F283L 1.000 112 0% 87 19.5% 0 - probably_damaging(0.987) deleterious(0.02) deleterious(0.820) superfamily_ARM-type_fold LRRK2 120892 genome.wustl.edu 37 12 40645071 40645071 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198578.3 +1 reviewed p.K332N 1.000 76 0% 85 25.9% 0 - benign(0.003) deleterious(0.01) neutral(0.406) superfamily_ARM-type_fold LRRK2 120892 genome.wustl.edu 37 12 40681158 40681158 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198578.3 +1 reviewed p.A836S 0.975 141 0% 96 30.2% 0 - benign(0.002) tolerated(0.32) neutral(0.024) NULL LRRK2 120892 genome.wustl.edu 37 12 40693008 40693008 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198578.3 +1 reviewed p.L1149I 0.539 305 0% 246 23.6% 0 - possibly_damaging(0.454) tolerated(0.05) deleterious(0.494) HMMPfam_LRR_1,superfamily_SSF52058 LRRK2 120892 genome.wustl.edu 37 12 40713850 40713850 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198578.3 +1 reviewed p.D1630Y 1.000 159 0% 175 18.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LRRK2 120892 genome.wustl.edu 37 12 40757321 40757321 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198578.3 +1 reviewed p.K2382 1.000 67 0% 81 32.1% 1 0% - - - superfamily_WD40_like LRRK2 120892 genome.wustl.edu 37 12 40758878 40758878 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000446130 +1 known p.F158L 0.000 89 0% 101 22.8% 0 - - - - NULL CNTN1 1272 genome.wustl.edu 37 12 41374839 41374839 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001843.2 +1 reviewed p.L645I 0.994 264 0% 186 30.1% 0 - benign(0.099) tolerated(0.14) neutral(0.257) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III GXYLT1 283464 genome.wustl.edu 37 12 42499643 42499643 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173601.1 -1 validated p.R281* 0.986 176 0% 115 23.5% 1 0% - - - HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases PRICKLE1 144165 genome.wustl.edu 37 12 42853972 42853972 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001144881.1 -1 reviewed p.F712C 0.989 196 0% 213 32.9% 0 - possibly_damaging(0.46) deleterious(0.01) deleterious(0.556) NULL ADAMTS20 80070 genome.wustl.edu 37 12 43771264 43771264 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025003.3 -1 validated p.V1633 0.103 82 0% 62 29% 0 - - - - superfamily_TSP-1 type 1 repeat ADAMTS20 80070 genome.wustl.edu 37 12 43846171 43846171 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025003.3 -1 validated p.G662E 1.000 235 0.4% 188 31.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PUS7L 83448 genome.wustl.edu 37 12 44142400 44142400 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098614.1 -1 validated p.R308Q 1.000 173 0% 125 36.8% 0 - benign(0.28) tolerated(0.52) neutral(0.095) HMMPfam_TruD,superfamily_PsdUridine_synth_cat_dom NELL2 4753 genome.wustl.edu 37 12 45059323 45059323 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145107.1 -1 reviewed p.S513Y 1.000 235 0% 259 27.4% 0 - possibly_damaging(0.557) deleterious(0) deleterious(0.635) PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,superfamily_ConA_like_lec_gl,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 NELL2 4753 genome.wustl.edu 37 12 45097554 45097554 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145107.1 -1 reviewed p.R475* 1.000 188 0% 128 20.3% 0 - - - - HMMSmart_EGF,superfamily_ConA_like_lec_gl,superfamily_SSF57196 NELL2 4753 genome.wustl.edu 37 12 45171028 45171028 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145107.1 -1 reviewed p.R276C 1.000 172 0% 139 25.9% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) superfamily_ConA_like_lec_gl ARID2 196528 genome.wustl.edu 37 12 46246104 46246104 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152641.2 +1 validated p.D1400Y 1.000 213 0% 183 21.9% 3 100% possibly_damaging(0.564) deleterious(0.02) deleterious(0.576) NULL ARID2 196528 genome.wustl.edu 37 12 46298770 46298770 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152641.2 +1 validated p.E1806V 1.000 95 0% 64 26.6% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SCAF11 9169 genome.wustl.edu 37 12 46321208 46321208 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004719.2 -1 validated p.S759F 0.000 287 0% 277 33.6% 0 - probably_damaging(0.961) deleterious(0) deleterious(0.849) NULL SLC38A4 55089 genome.wustl.edu 37 12 47170734 47170734 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001143824.1 -1 validated p.L376R 0.999 237 0% 235 18.3% 0 - probably_damaging(0.961) deleterious(0) deleterious(0.849) HMMPfam_Aa_trans SLC38A4 55089 genome.wustl.edu 37 12 47178414 47178414 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001143824.1 -1 validated p.S135Y 1.000 290 0% 190 34.7% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_Aa_trans LOC100288986 100288986 genome.wustl.edu 37 12 47629473 47629473 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343197.1 -1 model p.E7K 0.876 50 0% 47 25.5% 43 25.5% - - - NULL FAM113B 91523 genome.wustl.edu 37 12 47629694 47629694 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138371.1 +1 predicted p.R283I 0.000 61 0% 47 36.2% 18 0% probably_damaging(0.988) deleterious(0.05) deleterious(0.783) NULL RPAP3 79657 genome.wustl.edu 37 12 48081679 48081679 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024604.2 -1 reviewed p.A282T 1.000 248 0% 198 28.3% 2 50% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like RPAP3 79657 genome.wustl.edu 37 12 48090144 48090144 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024604.2 -1 reviewed p.D154Y 1.000 179 0% 249 27.7% 10 70% possibly_damaging(0.649) deleterious(0.01) deleterious(0.634) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like VDR 7421 genome.wustl.edu 37 12 48251023 48251023 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000376.2 -1 reviewed p.R158C 0.387 53 0% 71 21.1% 10 30% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) superfamily_Nuclear receptor ligand-binding domain COL2A1 1280 genome.wustl.edu 37 12 48369808 48369808 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001844.4 -1 reviewed p.G1179* 1.000 77 0% 50 20% 0 - - - - HMMPfam_Collagen ANP32D 23519 genome.wustl.edu 37 12 48866481 48866481 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012404.2 +1 reviewed p.R12W 1.000 296 0% 386 29.5% 0 - benign(0.071) deleterious(0.02) neutral(0.388) NULL ANP32D 23519 genome.wustl.edu 37 12 48866744 48866744 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012404.2 +1 reviewed p.K99N 1.000 352 0% 437 22.9% 0 - benign(0.303) deleterious(0.04) neutral(0.443) superfamily_SSF52075 LALBA 3906 genome.wustl.edu 37 12 48962315 48962315 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002289.2 -1 reviewed p.K118T 0.845 172 0% 142 33.1% 0 - benign(0.207) deleterious(0.04) neutral(0.369) HMMPfam_Lys,HMMSmart_LYZ1,superfamily_SSF53955 CCNT1 904 genome.wustl.edu 37 12 49087554 49087554 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001240.2 -1 reviewed p.K481N 1.000 155 0% 186 32.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ADCY6 112 genome.wustl.edu 37 12 49169121 49169121 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015270.3 -1 reviewed p.L649M 1.000 53 0% 82 30.5% 3 100% probably_damaging(0.974) tolerated(0.1) deleterious(0.702) HMMPfam_DUF1053 CCDC65 85478 genome.wustl.edu 37 12 49298245 49298245 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033124.4 +1 validated p.F42L 1.000 233 0% 244 29.9% 0 - probably_damaging(0.991) tolerated(0.36) neutral(0.464) NULL CCDC65 85478 genome.wustl.edu 37 12 49312057 49312057 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033124.4 +1 validated e5-1 1.000 183 0% 157 24.2% 0 - - - - - WNT10B 7480 genome.wustl.edu 37 12 49361735 49361735 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000407467 -1 known p.G188D 0.989 64 0% 55 25.5% 0 - unknown(0) tolerated(0.2) - HMMPfam_wnt,HMMSmart_WNT1 PRPF40B 25766 genome.wustl.edu 37 12 50030607 50030607 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001031698.1 +1 provisional p.Q490P 1.000 74 0% 46 30.4% 26 42.3% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMSmart_SM00441,superfamily_FF domain NCKAP5L 57701 genome.wustl.edu 37 12 50186325 50186325 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000433948 -1 known p.E947* 1.000 22 0% 14 42.9% 22 27.2% possibly_damaging(0.671) deleterious(0.01) deleterious(0.643) NULL NCKAP5L 57701 genome.wustl.edu 37 12 50190135 50190135 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037806.3 -1 validated p.R503Q 0.995 5 0.000 8 0.625 7 71.4% possibly_damaging(0.777) deleterious(0) deleterious(0.734) NULL AQP2 359 genome.wustl.edu 37 12 50344655 50344655 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000486.5 +1 reviewed p.F14 0.180 37 0% 33 24.2% 1 100% - - - HMMPfam_MIP,superfamily_MIP SMARCD1 6602 genome.wustl.edu 37 12 50480416 50480416 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003076.4 +1 reviewed p.K126N 1.000 111 0% 78 21.8% 7 14.2% probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL DIP2B 57609 genome.wustl.edu 37 12 51069199 51069199 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173602.2 +1 validated p.F295C 1.000 100 0% 80 33.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TMPRSS12 283471 genome.wustl.edu 37 12 51281091 51281091 + Missense_Mutation SNP G G T rs147804767 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182559.2 +1 validated p.R281I 0.000 192 0% 126 32.5% 0 - probably_damaging(0.982) tolerated(0.27) neutral(0.460) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases SLC11A2 4891 genome.wustl.edu 37 12 51386001 51386001 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000617.2 -1 reviewed p.D440A 1.000 165 0% 146 34.9% 17 52.9% possibly_damaging(0.582) tolerated(0.12) neutral(0.461) HMMPfam_Nramp LETMD1 25875 genome.wustl.edu 37 12 51442916 51442916 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015416.3 +1 validated p.F74L 1.000 82 0% 86 23.3% 3 33.3% possibly_damaging(0.93) tolerated(0.25) neutral(0.413) NULL TFCP2 7024 genome.wustl.edu 37 12 51566093 51566093 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005653.4 -1 reviewed p.Y38C 1.000 212 0% 184 30.4% 10 40% probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_CP2 SLC4A8 9498 genome.wustl.edu 37 12 51856209 51856209 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039960.1 +1 validated p.R406I 1.000 197 0% 137 29.2% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) superfamily_Phoshotransferase/anion transport protein SCN8A 6334 genome.wustl.edu 37 12 52077998 52077998 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014191.2 +1 reviewed p.F106C 1.000 164 0% 129 22.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Voltage-gated potassium channels SCN8A 6334 genome.wustl.edu 37 12 52080229 52080229 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014191.2 +1 reviewed p.S158L 1.000 94 0% 79 30.4% 0 - benign(0.271) tolerated(0.08) neutral(0.329) superfamily_Voltage-gated potassium channels SCN8A 6334 genome.wustl.edu 37 12 52159701 52159701 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014191.2 +1 reviewed p.R931* 1.000 417 0% 365 32.6% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN8A 6334 genome.wustl.edu 37 12 52184184 52184184 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014191.2 +1 reviewed p.F1474 1.000 55 0% 43 30.2% 0 - - - - NULL SCN8A 6334 genome.wustl.edu 37 12 52200889 52200889 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014191.2 +1 reviewed p.F1873 0.998 98 0% 100 31% 0 - - - - NULL ACVRL1 94 genome.wustl.edu 37 12 52309938 52309938 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000020.2 +1 reviewed p.C389 1.000 28 0% 53 28.3% 15 0% - - - superfamily_Kinase_like,HMMPfam_Pkinase GRASP 160622 genome.wustl.edu 37 12 52407560 52407560 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181711.2 +1 provisional p.L182I 0.870 84 0% 75 28% 5 0% benign(0.006) tolerated(0.3) neutral(0.029) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like KRT85 3891 genome.wustl.edu 37 12 52757182 52757182 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002283.3 -1 reviewed p.L267I 0.909 108 0% 124 34.7% 0 - possibly_damaging(0.54) tolerated(0.08) deleterious(0.483) HMMPfam_Filament KRT84 3890 genome.wustl.edu 37 12 52772018 52772018 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033045.3 -1 reviewed p.G535S 0.001 1 0.000 6 1.000 0 - probably_damaging(0.996) tolerated(0.18) deleterious(0.518) NULL KRT75 9119 genome.wustl.edu 37 12 52827028 52827028 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004693.2 -1 reviewed p.F169 1.000 84 0% 76 38.2% 0 - - - - HMMPfam_Filament KRT6B 3854 genome.wustl.edu 37 12 52841589 52841589 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005555.3 -1 reviewed p.R466H 1.000 250 0% 330 31.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament,PatternScan_IF KRT6C 286887 genome.wustl.edu 37 12 52865257 52865257 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173086.4 -1 reviewed p.K287T 0.145 179 0% 217 24.9% 0 - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMPfam_Filament KRT6A 3853 genome.wustl.edu 37 12 52882330 52882330 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005554.3 -1 reviewed p.C402 0.006 205 0% 247 32.4% 0 - - - - HMMPfam_Filament KRT6A 3853 genome.wustl.edu 37 12 52883814 52883814 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005554.3 -1 reviewed p.D372 0.877 190 0% 153 17.6% 0 - - - - HMMPfam_Filament KRT73 319101 genome.wustl.edu 37 12 53011912 53011912 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175068.2 -1 reviewed p.R133W 1.000 126 0% 122 37.7% 0 - benign(0.007) deleterious(0) neutral(0.445) HMMPfam_Filament KRT79 338785 genome.wustl.edu 37 12 53227733 53227733 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175834.2 -1 reviewed p.T104 0.000 50 0% 87 14.9% 0 - - - - NULL MFSD5 84975 genome.wustl.edu 37 12 53646934 53646934 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032889.4 +1 validated p.K105N 1.000 239 0.4% 340 23.2% 38 42.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DUF791,superfamily_MFS general substrate transporter MAP3K12 7786 genome.wustl.edu 37 12 53881028 53881028 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000444144 -1 known p.R50* 0.999 41 0% 54 31.5% 2 100% - - - NULL HOXC11 3227 genome.wustl.edu 37 12 54367487 54367487 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014212.3 +1 reviewed p.F154L 1.000 32 0% 44 29.5% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL HOXC10 3226 genome.wustl.edu 37 12 54383067 54383067 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017409.3 +1 reviewed p.F289C 1.000 53 0% 67 32.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like ITGA5 3678 genome.wustl.edu 37 12 54798618 54798618 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002205.2 -1 reviewed p.P429H 1.000 35 0% 35 25.7% 0 - benign(0.002) tolerated(0.16) neutral(0.059) HMMSmart_Int_alpha,superfamily_SSF69318 NCKAP1L 3071 genome.wustl.edu 37 12 54932728 54932728 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005337.4 +1 reviewed p.R1082* 1.000 107 0% 95 30.5% 42 0% - - - HMMPfam_Nckap1 NCKAP1L 3071 genome.wustl.edu 37 12 54936426 54936426 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005337.4 +1 reviewed p.R1114Q 1.000 117 0% 123 30.9% 71 0% probably_damaging(0.999) tolerated(0.11) deleterious(0.762) HMMPfam_Nckap1 PDE1B 5153 genome.wustl.edu 37 12 54969784 54969784 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000924.3 +1 validated p.D426N 1.000 171 0% 242 28.9% 1 0% possibly_damaging(0.885) deleterious(0.04) deleterious(0.695) HMMPfam_PDEase_I,superfamily_SSF109604 KIAA0748 9840 genome.wustl.edu 37 12 55356986 55356986 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098815.1 -1 validated p.D232E 1.000 84 0% 74 31.1% 3 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL NEUROD4 58158 genome.wustl.edu 37 12 55420814 55420814 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021191.2 +1 validated p.I197 0.978 343 0% 271 21% 0 - - - - NULL NEUROD4 58158 genome.wustl.edu 37 12 55420932 55420932 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021191.2 +1 validated p.F237I 0.998 461 0.2% 309 25.6% 0 - possibly_damaging(0.647) tolerated(0.06) deleterious(0.549) NULL OR10A7 121364 genome.wustl.edu 37 12 55615172 55615172 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005280.1 +1 provisional p.R122C 1.000 365 0% 410 35.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR6C74 254783 genome.wustl.edu 37 12 55641534 55641534 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005490.1 +1 provisional p.F155V 0.001 280 0% 245 23.3% 0 - benign(0.001) tolerated(0.23) neutral(0.042) HMMPfam_7tm_1,superfamily_SSF81321 OR6C74 254783 genome.wustl.edu 37 12 55641711 55641711 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005490.1 +1 provisional p.L214I 0.000 257 0% 199 28.1% 0 - benign(0.032) tolerated(0.25) neutral(0.038) HMMPfam_7tm_1,superfamily_SSF81321 OR6C6 283365 genome.wustl.edu 37 12 55688437 55688437 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005493.1 -1 provisional p.E194* 0.088 221 0% 200 31.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR6C75 390323 genome.wustl.edu 37 12 55759471 55759471 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005497.1 +1 provisional p.L193I 0.468 249 0% 243 28.4% 0 - benign(0.175) tolerated(0.72) neutral(0.018) HMMPfam_7tm_1,superfamily_SSF81321 OR6C65 403282 genome.wustl.edu 37 12 55795043 55795043 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005518.1 +1 provisional p.I244S 0.200 165 0% 151 27.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_7tm_1,superfamily_SSF81321 OR6C2 341416 genome.wustl.edu 37 12 55846078 55846078 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_054105.1 +1 provisional p.I27 0.005 270 0% 299 32.1% 0 - - - - superfamily_SSF81321 OR6C68 403284 genome.wustl.edu 37 12 55887086 55887086 + Missense_Mutation SNP C C T rs182070849 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005519.1 +1 provisional p.R314C 0.000 144 0% 130 35.4% 0 - possibly_damaging(0.732) tolerated(0.17) neutral(0.327) superfamily_Family A G protein-coupled receptor-like OR2AP1 121129 genome.wustl.edu 37 12 55969123 55969123 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000321688 +1 known p.L309I 0.431 17 0% 10 60% 0 - benign(0.084) tolerated(0.18) neutral(0.062) NULL RDH5 5959 genome.wustl.edu 37 12 56115654 56115654 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002905.3 +1 reviewed p.V164 1.000 21 0% 17 47.1% 0 - - - - HMMPfam_adh_short,superfamily_NAD(P)-bd MMP19 4327 genome.wustl.edu 37 12 56231653 56231653 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002429.4 -1 reviewed p.R345Q 1.000 108 0% 180 27.8% 4 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 MMP19 4327 genome.wustl.edu 37 12 56232478 56232478 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002429.4 -1 reviewed p.E269D 0.063 48 0% 69 34.8% 5 0% benign(0.043) tolerated(0.63) neutral(0.006) NULL DGKA 1606 genome.wustl.edu 37 12 56330838 56330838 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001345.4 +1 reviewed p.F34 0.340 430 0% 376 19.7% 2 0% - - - superfamily_EF-hand DGKA 1606 genome.wustl.edu 37 12 56334722 56334722 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001345.4 +1 reviewed p.K353 0.226 120 0% 127 32.3% 3 0% - - - NULL SMARCC2 6601 genome.wustl.edu 37 12 56559402 56559402 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003075.3 -1 reviewed p.R947W 1.000 55 0% 100 38% 80 31.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CS 1431 genome.wustl.edu 37 12 56669901 56669901 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004077.2 -1 reviewed p.E223K 1.000 61 0% 77 35.1% 51 45% benign(0) tolerated(0.17) neutral(0.059) HMMPfam_Citrate_synt,superfamily_Citrate_synthase_core PAN2 9924 genome.wustl.edu 37 12 56717132 56717132 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127460.2 -1 reviewed p.E774* 1.000 147 0% 166 25.3% 1 0% - - - HMMPfam_UCH,superfamily_Cysteine proteinases PAN2 9924 genome.wustl.edu 37 12 56722294 56722294 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127460.2 -1 reviewed p.K138N 1.000 160 0% 198 34.3% 0 - benign(0.059) deleterious(0.01) neutral(0.410) superfamily_WD40 repeat-like STAT2 6773 genome.wustl.edu 37 12 56737176 56737176 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005419.3 -1 reviewed p.F851L 0.895 54 0% 87 19.5% 55 16.3% benign(0.002) deleterious(0.02) neutral(0.383) NULL MIP 4284 genome.wustl.edu 37 12 56847452 56847452 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012064.3 -1 reviewed p.D150N 0.999 19 0% 23 39.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MIP,superfamily_MIP BAZ2A 11176 genome.wustl.edu 37 12 57005376 57005376 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013449.3 -1 validated p.R553C 1.000 77 0% 65 10.8% 8 0% probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-binding domain NACA 4666 genome.wustl.edu 37 12 57114079 57114079 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001113203.1 -1 validated p.S412Y 0.075 152 0% 128 18% 0 - unknown(0) deleterious(0) - NULL SDR9C7 121214 genome.wustl.edu 37 12 57324155 57324155 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_148897.2 -1 reviewed p.E139K 0.974 164 0% 123 37.4% 1 0% benign(0.049) tolerated(0.13) neutral(0.256) HMMPfam_adh_short,superfamily_NAD(P)-bd MYO1A 4640 genome.wustl.edu 37 12 57430769 57430769 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005379.2 -1 reviewed p.R721Q 1.000 210 0% 211 35.5% 0 - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMSmart_IQ,superfamily_SSF52540 MYO1A 4640 genome.wustl.edu 37 12 57432228 57432228 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005379.2 -1 reviewed p.K576N 1.000 63 0% 47 17% 0 - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO1A 4640 genome.wustl.edu 37 12 57440382 57440382 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005379.2 -1 reviewed p.F198 1.000 205 0% 167 18.6% 0 - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO1A 4640 genome.wustl.edu 37 12 57440849 57440849 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005379.2 -1 reviewed p.R158Q 1.000 115 0% 104 36.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 LRP1 4035 genome.wustl.edu 37 12 57548049 57548049 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002332.2 +1 reviewed p.I300 0.989 117 0% 145 30.3% 0 - - - - HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain GLI1 2735 genome.wustl.edu 37 12 57864605 57864605 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005269.2 +1 reviewed p.E694D 1.000 41 0% 49 24.5% 0 - possibly_damaging(0.946) deleterious(0) deleterious(0.835) NULL GLI1 2735 genome.wustl.edu 37 12 57865380 57865380 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005269.2 +1 reviewed p.G953* 0.959 74 0% 90 13.3% 2 0% - - - NULL ARHGAP9 64333 genome.wustl.edu 37 12 57872519 57872519 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032496.2 -1 reviewed p.S113Y 0.923 46 0% 69 27.5% 8 0% possibly_damaging(0.918) deleterious(0.01) deleterious(0.774) NULL DTX3 196403 genome.wustl.edu 37 12 58000810 58000810 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000413885 +1 known p.S58Y 0.999 132 0% 158 24.7% 9 0% possibly_damaging(0.901) deleterious(0.01) deleterious(0.762) NULL SLC26A10 65012 genome.wustl.edu 37 12 58016670 58016670 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133489.2 +1 validated p.A298T 1.000 140 0% 162 22.2% 0 - probably_damaging(0.953) deleterious(0) deleterious(0.841) HMMPfam_Sulfate_transp B4GALNT1 2583 genome.wustl.edu 37 12 58020694 58020694 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001478.3 -1 reviewed p.V479I 0.975 50 0% 88 34.1% 0 - possibly_damaging(0.535) tolerated(0.16) neutral(0.240) NULL AGAP2 116986 genome.wustl.edu 37 12 58128450 58128450 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001122772.1 -1 validated p.D414N 0.836 135 0% 146 44.5% 1 0% benign(0.004) tolerated(0.54) neutral(0.007) HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Miro,superfamily_P-loop containing nucleoside triphosphate hydrolases MARCH9 92979 genome.wustl.edu 37 12 58152076 58152076 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138396.4 +1 validated p.V233 1.000 44 0% 50 10% 55 0% - - - NULL TSFM 10102 genome.wustl.edu 37 12 58186838 58186838 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005726.5 +1 reviewed p.Q185K 1.000 60 0% 71 23.9% 21 19% benign(0.286) tolerated(0.45) neutral(0.100) HMMPfam_EF_TS,superfamily_Elongation factor Ts (EF-Ts) dimerisation domain XRCC6BP1 91419 genome.wustl.edu 37 12 58350527 58350527 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033276.2 +1 provisional p.E199* 1.000 344 0% 412 15.5% 4 0% - - - HMMPfam_Peptidase_M76 SLC16A7 9194 genome.wustl.edu 37 12 60168877 60168877 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004731.3 +1 provisional p.F267L 1.000 238 0% 210 37.1% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter FAM19A2 338811 genome.wustl.edu 37 12 62148734 62148734 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178539.3 -1 reviewed p.E60* 1.000 78 0% 73 34.2% 0 - - - - NULL USP15 9958 genome.wustl.edu 37 12 62749230 62749230 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006313.1 +1 provisional p.T268A 1.000 123 0% 81 23.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,PatternScan_UCH_2_1,superfamily_SSF54001 MON2 23041 genome.wustl.edu 37 12 62892728 62892728 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015026.2 +1 validated p.F155L 1.000 307 0% 244 18.9% 0 - probably_damaging(0.957) deleterious(0.02) deleterious(0.784) NULL AVPR1A 552 genome.wustl.edu 37 12 63541185 63541185 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000706.3 -1 reviewed p.S404L 0.967 233 0% 190 28.9% 0 - possibly_damaging(0.918) tolerated(0.09) deleterious(0.665) HMMPfam_DUF1856 AVPR1A 552 genome.wustl.edu 37 12 63543729 63543729 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000706.3 -1 reviewed p.I296 0.999 120 0% 108 26.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 AVPR1A 552 genome.wustl.edu 37 12 63544218 63544218 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000706.3 -1 reviewed p.F133 1.000 22 0% 17 29.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 SRGAP1 57522 genome.wustl.edu 37 12 64436579 64436579 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020762.2 +1 validated p.T167A 1.000 184 0% 126 33.3% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL SRGAP1 57522 genome.wustl.edu 37 12 64521952 64521952 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020762.2 +1 validated p.K951T 1.000 99 0% 73 37% 0 - possibly_damaging(0.897) deleterious(0.01) deleterious(0.760) NULL C12orf56 115749 genome.wustl.edu 37 12 64679773 64679773 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099676.2 -1 validated p.N234S 0.095 89 0% 97 22.7% 5 60% benign(0.001) tolerated(0.92) - NULL C12orf56 115749 genome.wustl.edu 37 12 64746803 64746803 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099676.2 -1 validated p.D96Y 0.616 119 0% 145 21.4% 0 - possibly_damaging(0.887) deleterious(0.03) deleterious(0.712) NULL IRAK3 11213 genome.wustl.edu 37 12 66641740 66641740 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007199.2 +1 reviewed p.R527I 0.000 458 0% 318 19.8% 2 0% benign(0) deleterious(0.05) neutral(0.345) NULL HELB 92797 genome.wustl.edu 37 12 66700134 66700134 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033647.2 +1 reviewed p.R206K 0.000 158 0% 126 27% 0 - benign(0) tolerated(1) - NULL GRIP1 23426 genome.wustl.edu 37 12 66838440 66838440 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021150.3 -1 reviewed p.F485 0.503 172 0% 122 18.9% 1 100% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like GRIP1 23426 genome.wustl.edu 37 12 66909495 66909495 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021150.3 -1 reviewed p.R210W 1.000 399 0% 280 31.8% 3 100% probably_damaging(0.993) deleterious(0.04) deleterious(0.799) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like GRIP1 23426 genome.wustl.edu 37 12 66923624 66923624 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021150.3 -1 reviewed p.G163 0.985 471 0% 437 27.7% 0 - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like CAND1 55832 genome.wustl.edu 37 12 67699926 67699926 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018448.3 +1 validated p.K826 1.000 268 0% 148 20.9% 12 41.6% - - - superfamily_ARM repeat IFNG 3458 genome.wustl.edu 37 12 68551983 68551983 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000619.2 -1 reviewed p.K57N 0.000 68 0% 78 39.7% 0 - benign(0.021) deleterious(0) neutral(0.446) HMMPfam_IFN-gamma,superfamily_4-helical cytokines IL26 55801 genome.wustl.edu 37 12 68619377 68619377 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018402.1 -1 reviewed p.A54T 1.000 524 0% 513 30% 0 - benign(0.316) tolerated(0.29) neutral(0.128) superfamily_4_helix_cytokine,HMMSmart_IL10 MDM1 56890 genome.wustl.edu 37 12 68709027 68709027 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017440.4 -1 reviewed p.K400N 1.000 282 0% 219 23.3% 0 - probably_damaging(0.96) tolerated(0.1) deleterious(0.690) NULL MDM1 56890 genome.wustl.edu 37 12 68715213 68715213 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017440.4 -1 reviewed p.E307K 1.000 130 0% 112 23.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RAP1B 5908 genome.wustl.edu 37 12 69048013 69048013 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010942.1 +1 validated p.R102Q 1.000 501 0% 621 22.1% 6 33.3% possibly_damaging(0.803) deleterious(0.01) deleterious(0.708) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CPSF6 11052 genome.wustl.edu 37 12 69652544 69652544 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007007.2 +1 validated p.G290D 1.000 177 0% 259 22.8% 80 23.7% unknown(0) tolerated(0.16) - NULL CNOT2 4848 genome.wustl.edu 37 12 70672044 70672044 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014515.4 +1 provisional p.R13I 1.000 176 0% 138 24.6% 2 0% benign(0.099) deleterious(0) neutral(0.452) NULL PTPRB 5787 genome.wustl.edu 37 12 70932787 70932787 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001109754.1 -1 reviewed p.K1929T 1.000 66 0% 54 18.5% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II TMEM19 55266 genome.wustl.edu 37 12 72092933 72092933 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000422859 +1 known p.K297N 0.806 67 0% 74 31.1% 0 - unknown(0) - - NULL TRHDE 29953 genome.wustl.edu 37 12 72680548 72680548 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013381.2 +1 reviewed p.K289N 1.000 114 0% 138 29.7% 0 - possibly_damaging(0.513) tolerated(0.43) neutral(0.186) HMMPfam_Peptidase_M1,superfamily_SSF63737 TRHDE 29953 genome.wustl.edu 37 12 72969270 72969270 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013381.2 +1 reviewed p.L712I 1.000 170 0% 134 33.6% 0 - benign(0.003) tolerated(1) - NULL KCNC2 3747 genome.wustl.edu 37 12 75436910 75436910 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139137.2 -1 reviewed p.R631Q 1.000 137 0% 122 24.6% 0 - possibly_damaging(0.906) tolerated(0.07) deleterious(0.678) NULL KCNC2 3747 genome.wustl.edu 37 12 75444251 75444251 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139137.2 -1 reviewed p.E512K 1.000 233 0% 280 28.2% 0 - benign(0.01) tolerated(0.32) neutral(0.025) NULL KCNC2 3747 genome.wustl.edu 37 12 75445010 75445010 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139137.2 -1 reviewed p.N259H 1.000 198 0% 165 26.7% 0 - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) superfamily_Voltage-gated potassium channels NAP1L1 4673 genome.wustl.edu 37 12 76454036 76454036 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004537.4 -1 reviewed p.R77Q 1.000 280 0% 313 30.4% 51 33.3% benign(0.227) deleterious(0.02) neutral(0.406) HMMPfam_NAP NAV3 89795 genome.wustl.edu 37 12 78562550 78562550 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014903.4 +1 validated p.E1629* 1.000 387 0% 359 32% 0 - - - - NULL NAV3 89795 genome.wustl.edu 37 12 78574654 78574654 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014903.4 +1 validated p.E1819* 1.000 147 0.7% 95 30.5% 0 - - - - NULL OTOGL 283310 genome.wustl.edu 37 12 80626701 80626701 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343203.1 +1 model p.I155N 1.000 85 0% 73 24.7% 0 - benign(0.306) deleterious(0.01) deleterious(0.501) HMMPfam_VWD,HMMSmart_SM00216 OTOGL 283310 genome.wustl.edu 37 12 80690648 80690648 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343203.1 +1 model p.K895N 1.000 14 0.000 9 0.667 0 - benign(0.202) tolerated(0.07) neutral(0.339) HMMPfam_VWD,HMMSmart_SM00216 OTOGL 283310 genome.wustl.edu 37 12 80722474 80722474 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343203.1 +1 model p.K1315T 1.000 46 0% 63 27% 0 - possibly_damaging(0.888) tolerated(1) neutral(0.347) superfamily_Serine proterase inhibitors OTOGL 283310 genome.wustl.edu 37 12 80735770 80735770 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343203.1 +1 model p.N1595S 1.000 92 0% 49 22.4% 0 - probably_damaging(0.971) tolerated(0.2) neutral(0.462) HMMPfam_VWD,HMMSmart_SM00216 OTOGL 283310 genome.wustl.edu 37 12 80735867 80735867 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000298820 +1 known p.G164E 0.987 62 0% 30 36.7% 0 - - - - NULL OTOGL 283310 genome.wustl.edu 37 12 80752523 80752523 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343203.1 +1 model p.V1962A 0.938 133 0% 142 31.7% 0 - possibly_damaging(0.94) tolerated(0.18) neutral(0.441) NULL PPFIA2 8499 genome.wustl.edu 37 12 81769649 81769649 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003625.2 -1 reviewed p.E353K 1.000 151 0% 170 20.6% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL TSPAN19 144448 genome.wustl.edu 37 12 85421736 85421736 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001100917.1 -1 validated p.L69I 0.987 81 0% 64 23.4% 0 - benign(0.01) tolerated(0.23) neutral(0.042) HMMPfam_Tetraspannin TSPAN19 144448 genome.wustl.edu 37 12 85423685 85423685 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001100917.1 -1 validated p.L14I 1.000 33 0% 22 31.8% 0 - possibly_damaging(0.875) deleterious(0) deleterious(0.784) HMMPfam_Tetraspannin LRRIQ1 84125 genome.wustl.edu 37 12 85449335 85449335 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001079910.1 +1 validated p.R255I 0.214 86 0% 68 29.4% 0 - possibly_damaging(0.856) deleterious(0.01) deleterious(0.736) superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85449404 85449404 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001079910.1 +1 validated p.S278Y 0.000 130 0% 111 20.7% 0 - benign(0.001) deleterious(0.04) neutral(0.349) superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85450018 85450018 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001079910.1 +1 validated p.K483Q 0.131 248 0% 165 21.8% 0 - possibly_damaging(0.894) tolerated(0.06) deleterious(0.674) superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85450243 85450243 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001079910.1 +1 validated p.G558* 0.001 265 0% 195 23.6% 0 - - - - superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85460671 85460671 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001079910.1 +1 validated p.R897Q 1.000 125 0.8% 173 21.4% 0 - probably_damaging(0.999) tolerated(0.34) deleterious(0.513) superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85517909 85517909 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001079910.1 +1 validated p.L1207I 1.000 126 0% 113 23% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LRRIQ1 84125 genome.wustl.edu 37 12 85546098 85546098 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001079910.1 +1 validated p.R1457H 0.949 191 0% 240 24.2% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL RASSF9 9182 genome.wustl.edu 37 12 86199529 86199529 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005447.3 -1 reviewed p.E87K 1.000 235 0% 155 29% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00314 C12orf50 160419 genome.wustl.edu 37 12 88383104 88383104 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152589.1 -1 predicted p.D213N 0.997 144 0% 129 31.8% 0 - benign(0.096) deleterious(0) neutral(0.452) NULL CEP290 80184 genome.wustl.edu 37 12 88465120 88465120 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025114.3 -1 reviewed p.E1988* 1.000 140 0% 109 22% 0 - - - - NULL CEP290 80184 genome.wustl.edu 37 12 88514815 88514815 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025114.3 -1 reviewed p.E440* 1.000 190 0% 119 21% 0 - - - - NULL DUSP6 1848 genome.wustl.edu 37 12 89744467 89744467 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001946.2 -1 reviewed p.L246I 1.000 146 0% 135 26.7% 40 37.5% benign(0) tolerated(0.46) neutral(0.012) HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II C12orf12 196477 genome.wustl.edu 37 12 91347711 91347711 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152638.2 -1 predicted p.S270F 0.002 387 0% 266 24.4% 0 - unknown(0) deleterious(0.02) - NULL KERA 11081 genome.wustl.edu 37 12 91449634 91449634 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007035.3 -1 reviewed p.R142I 1.000 485 0% 559 15.2% 0 - benign(0.286) deleterious(0.01) deleterious(0.494) superfamily_SSF52058 KERA 11081 genome.wustl.edu 37 12 91449696 91449696 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007035.3 -1 reviewed p.K121N 0.999 473 0% 555 22.2% 0 - benign(0.194) tolerated(0.11) neutral(0.290) superfamily_SSF52058 KERA 11081 genome.wustl.edu 37 12 91449874 91449874 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007035.3 -1 reviewed p.G62D 1.000 309 0% 327 17.7% 0 - possibly_damaging(0.804) tolerated(0.61) neutral(0.306) HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52058 KERA 11081 genome.wustl.edu 37 12 91449939 91449939 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007035.3 -1 reviewed p.F40 0.364 276 0% 358 24.6% 0 - - - - superfamily_SSF52058 LUM 4060 genome.wustl.edu 37 12 91501896 91501896 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002345.3 -1 reviewed p.E287D 1.000 342 0% 233 22.7% 28 0% benign(0.027) tolerated(0.06) neutral(0.324) superfamily_L domain-like LUM 4060 genome.wustl.edu 37 12 91502039 91502039 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002345.3 -1 reviewed p.E240K 1.000 446 0.2% 287 26.5% 129 0% benign(0) tolerated(1) - HMMPfam_LRR_1,superfamily_L domain-like DCN 1634 genome.wustl.edu 37 12 91558423 91558423 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001920.3 -1 reviewed p.E95K 1.000 109 0% 67 26.9% 23 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like CLLU1 574028 genome.wustl.edu 37 12 92818791 92818791 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001025233.1 +1 provisional p.F112C 0.002 83 0% 76 23.7% 0 - unknown(0) - - NULL EEA1 8411 genome.wustl.edu 37 12 93169825 93169825 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003566.3 -1 validated p.R1400C 1.000 287 0% 171 25.1% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FYVE,HMMSmart_FYVE,superfamily_FYVE_PHD_ZnF EEA1 8411 genome.wustl.edu 37 12 93172978 93172978 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003566.3 -1 validated p.E1189 1.000 484 0% 297 20.9% 0 - - - - NULL EEA1 8411 genome.wustl.edu 37 12 93175873 93175873 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003566.3 -1 validated p.L1063F 1.000 250 0% 143 32.2% 0 - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL EEA1 8411 genome.wustl.edu 37 12 93213173 93213173 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003566.3 -1 validated p.E547* 1.000 412 0% 367 21.8% 0 - - - - NULL SOCS2 8835 genome.wustl.edu 37 12 93968650 93968650 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003877.3 +1 reviewed p.E98K 1.000 176 0% 121 30.6% 1 0% possibly_damaging(0.52) tolerated(0.09) deleterious(0.471) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain PLXNC1 10154 genome.wustl.edu 37 12 94699045 94699045 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005761.1 +1 provisional p.K1564T 1.000 53 0% 42 28.6% 0 - possibly_damaging(0.49) deleterious(0.01) deleterious(0.569) NULL CCDC41 51134 genome.wustl.edu 37 12 94761837 94761837 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042399.1 -1 validated p.E397* 1.000 318 0% 178 21.9% 3 66.6% - - - NULL CCDC41 51134 genome.wustl.edu 37 12 94761977 94761977 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042399.1 -1 validated p.G350E 0.998 155 0% 79 19% 1 100% probably_damaging(0.971) tolerated(0.63) neutral(0.416) NULL FGD6 55785 genome.wustl.edu 37 12 95604098 95604098 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018351.3 -1 validated p.R321Q 0.254 272 0% 261 31% 0 - probably_damaging(0.96) deleterious(0.01) deleterious(0.808) NULL USP44 84101 genome.wustl.edu 37 12 95922631 95922631 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042403.1 -1 validated p.E526* 1.000 187 0% 174 23% 0 - - - - HMMPfam_UCH,superfamily_Cysteine proteinases USP44 84101 genome.wustl.edu 37 12 95927554 95927554 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042403.1 -1 validated p.K160T 1.000 224 0% 229 27.5% 0 - probably_damaging(0.969) deleterious(0.04) deleterious(0.760) NULL CCDC38 120935 genome.wustl.edu 37 12 96310957 96310957 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182496.2 -1 validated p.S85* 0.009 257 0% 218 28.4% 0 - - - - NULL AMDHD1 144193 genome.wustl.edu 37 12 96350484 96350484 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152435.2 +1 validated p.E111* 1.000 30 0% 48 16.7% 0 - - - - superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases AMDHD1 144193 genome.wustl.edu 37 12 96354342 96354342 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152435.2 +1 validated p.D252Y 0.999 160 0% 159 24.5% 0 - benign(0.293) deleterious(0.03) neutral(0.455) superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases AMDHD1 144193 genome.wustl.edu 37 12 96360270 96360270 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152435.2 +1 validated p.I393V 0.986 224 0% 179 36.3% 4 100% benign(0.001) tolerated(0.34) neutral(0.023) HMMPfam_Amidohydro_1,superfamily_Composite domain of metallo-dependent hydrolases CDK17 5128 genome.wustl.edu 37 12 96692717 96692717 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002595.3 -1 reviewed p.E215D 1.000 292 0% 201 25.9% 0 - benign(0) tolerated(0.83) neutral(0.001) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase C12orf63 374467 genome.wustl.edu 37 12 97051678 97051678 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198520.2 +1 validated p.E132* 1.000 360 0% 257 29.6% 0 - - - - NULL C12orf63 374467 genome.wustl.edu 37 12 97137287 97137287 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198520.2 +1 validated p.L868I 0.346 538 0% 355 29% 4 0% unknown(0) tolerated(0.34) - NULL MIR135A2 406926 genome.wustl.edu 37 12 97957647 97957647 + RNA SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000384854 +1 known NULL 1.000 41 0% 38 28.9% 2 100% - - - - LOC121456 121456 genome.wustl.edu 37 12 98850440 98850440 + RNA SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_016411.2 -1 model NULL 1.000 28 0% 26 30.8% 0 - - - - - IKBIP 121457 genome.wustl.edu 37 12 99007780 99007780 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_201612.1 -1 provisional p.K212N 0.804 105 0% 85 21.2% 2 50% benign(0.071) tolerated(0.06) neutral(0.328) NULL APAF1 317 genome.wustl.edu 37 12 99059507 99059507 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181861.1 +1 reviewed p.D378Y 1.000 155 0% 150 28.7% 0 - possibly_damaging(0.901) deleterious(0.01) deleterious(0.762) HMMPfam_NB-ARC,superfamily_WD40 repeat-like,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKS1B 56899 genome.wustl.edu 37 12 99192714 99192714 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152788.3 -1 validated p.R1089W 1.000 139 0% 101 34.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like UHRF1BP1L 23074 genome.wustl.edu 37 12 100452444 100452444 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015054.1 -1 validated p.L871I 1.000 232 0% 182 29.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GOLGA2P5 55592 genome.wustl.edu 37 12 100559579 100559579 + RNA SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NR_024261.1 -1 validated NULL 0.020 14 0% 16 25% 1 0% - - - - GOLGA2P5 55592 genome.wustl.edu 37 12 100562378 100562378 + RNA SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NR_024261.1 -1 validated NULL 0.723 34 0% 32 12.5% 0 - - - - - ACTR6 64431 genome.wustl.edu 37 12 100613875 100613875 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022496.3 +1 validated p.R338* 1.000 118 0% 128 32.8% 5 40% - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain DEPDC4 120863 genome.wustl.edu 37 12 100656060 100656060 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152317.2 -1 provisional p.L228I 0.027 161 0% 184 31.5% 0 - possibly_damaging(0.832) tolerated(0.09) deleterious(0.613) NULL SLC17A8 246213 genome.wustl.edu 37 12 100797846 100797846 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139319.2 +1 reviewed p.V362F 1.000 89 0% 87 14.9% 0 - probably_damaging(0.991) tolerated(0.07) deleterious(0.763) HMMPfam_MFS_1,superfamily_MFS general substrate transporter NR1H4 9971 genome.wustl.edu 37 12 100957082 100957082 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005123.2 +1 provisional p.L412I 1.000 214 0% 197 27.4% 0 - probably_damaging(0.986) tolerated(0.12) deleterious(0.695) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain ANO4 121601 genome.wustl.edu 37 12 101368632 101368632 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178826.3 +1 validated p.I154 1.000 123 0% 160 20.6% 0 - - - - NULL ANO4 121601 genome.wustl.edu 37 12 101493479 101493479 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178826.3 +1 validated p.F675 0.990 212 0% 138 26.8% 0 - - - - HMMPfam_DUF590 ANO4 121601 genome.wustl.edu 37 12 101505358 101505358 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178826.3 +1 validated p.L739I 1.000 164 0% 155 23.9% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_DUF590 ANO4 121601 genome.wustl.edu 37 12 101520688 101520688 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178826.3 +1 validated p.S868L 1.000 139 0% 80 22.5% 0 - benign(0.179) tolerated(0.17) neutral(0.075) HMMPfam_DUF590 UTP20 27340 genome.wustl.edu 37 12 101689299 101689299 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014503.2 +1 validated p.F431L 0.427 95 0% 111 27.9% 0 - benign(0.202) tolerated(0.73) neutral(0.021) superfamily_ARM repeat UTP20 27340 genome.wustl.edu 37 12 101739448 101739448 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014503.2 +1 validated p.F1574 1.000 182 0% 141 31.2% 0 - - - - superfamily_ARM repeat UTP20 27340 genome.wustl.edu 37 12 101767491 101767491 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014503.2 +1 validated p.L2359 0.005 112 0% 94 31.9% 4 50% - - - superfamily_ARM repeat ARL1 400 genome.wustl.edu 37 12 101796682 101796682 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001177.3 -1 reviewed p.K62T 1.000 97 0% 70 32.9% 63 39.6% benign(0.372) tolerated(0.18) neutral(0.174) HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases GNPTAB 79158 genome.wustl.edu 37 12 102158702 102158702 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024312.4 -1 reviewed p.L665I 0.139 204 0% 167 24% 0 - benign(0.001) tolerated(0.42) neutral(0.014) NULL PARPBP 55010 genome.wustl.edu 37 12 102542148 102542148 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017915.2 +1 predicted p.F17L 0.997 205 0% 167 31.1% 2 0% probably_damaging(0.986) deleterious(0.02) deleterious(0.818) NULL C12orf42 374470 genome.wustl.edu 37 12 103700111 103700111 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099336.1 -1 validated p.R91M 0.001 74 0% 64 28.1% 0 - possibly_damaging(0.5) tolerated(0.09) neutral(0.464) NULL C12orf42 374470 genome.wustl.edu 37 12 103872168 103872168 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099336.1 -1 validated p.E13* 0.003 79 0% 97 32% 0 - - - - NULL STAB2 55576 genome.wustl.edu 37 12 104049239 104049239 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017564.9 +1 reviewed p.T538 0.967 235 0% 284 30.3% 0 - - - - HMMPfam_Fasciclin,superfamily_BIgH3_FAS1 STAB2 55576 genome.wustl.edu 37 12 104123996 104123996 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017564.9 +1 reviewed p.L1729V 0.098 448 0% 333 30.6% 0 - probably_damaging(0.995) tolerated(0.51) neutral(0.467) NULL STAB2 55576 genome.wustl.edu 37 12 104134518 104134518 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017564.9 +1 reviewed p.F1955 0.927 146 0% 157 31.2% 0 - - - - superfamily_Grow_fac_recept HSP90B1 7184 genome.wustl.edu 37 12 104336433 104336433 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003299.1 +1 provisional p.S501 0.732 125 0% 111 36% 807 48.8% - - - superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_HSP90 HSP90B1 7184 genome.wustl.edu 37 12 104341424 104341424 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003299.1 +1 provisional p.E799A 0.998 113 0% 122 31.1% 1567 42.2% unknown(0) tolerated(0.67) - NULL GLT8D2 83468 genome.wustl.edu 37 12 104388131 104388131 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031302.3 -1 provisional p.W250L 1.000 170 0% 107 28% 2 0% probably_damaging(0.982) tolerated(0.13) deleterious(0.679) HMMPfam_Glyco_transf_8,superfamily_SSF53448 TXNRD1 7296 genome.wustl.edu 37 12 104645331 104645331 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000429002 +1 known p.L40 0.000 85 0% 93 32.3% 0 - - - - NULL EID3 493861 genome.wustl.edu 37 12 104698461 104698461 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008394.1 +1 provisional p.N250T 0.931 119 0% 102 26.5% 0 - benign(0.202) tolerated(0.09) neutral(0.316) HMMPfam_Nse4 NUAK1 9891 genome.wustl.edu 37 12 106461143 106461143 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014840.2 -1 validated p.E475* 1.000 50 0% 48 22.9% 0 - - - - NULL NUAK1 9891 genome.wustl.edu 37 12 106461578 106461578 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014840.2 -1 validated p.R330W 0.989 79 0% 57 38.6% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL LOC341378 341378 genome.wustl.edu 37 12 106565597 106565597 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001715424.1 +1 model p.S147R 0.999 103 0% 107 24.3% 0 - - - - NULL TCP11L2 255394 genome.wustl.edu 37 12 106729449 106729449 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152772.1 +1 provisional p.E269* 1.000 188 0% 150 31.3% 0 - - - - HMMPfam_Tcp11 POLR3B 55703 genome.wustl.edu 37 12 106821008 106821008 + Nonsense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018082.5 +1 validated p.K379* 1.000 163 0% 107 23.4% 0 - - - - HMMPfam_RNA_pol_Rpb2_1,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase RFX4 5992 genome.wustl.edu 37 12 107048077 107048077 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_213594.1 +1 reviewed p.D88A 1.000 131 0% 160 28.7% 0 - possibly_damaging(0.915) tolerated(0.35) neutral(0.387) HMMPfam_RFX_DNA_binding,superfamily_SSF46785 WSCD2 9671 genome.wustl.edu 37 12 108603905 108603905 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014653.2 +1 validated p.L169M 1.000 37 0% 42 28.6% 0 - benign(0.001) tolerated(0.17) neutral(0.059) HMMPfam_WSC,HMMSmart_SM00321 WSCD2 9671 genome.wustl.edu 37 12 108620899 108620899 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014653.2 +1 validated p.G313R 1.000 88 0% 86 24.4% 0 - possibly_damaging(0.874) tolerated(0.13) deleterious(0.592) HMMPfam_WSC,HMMSmart_SM00321 ISCU 23479 genome.wustl.edu 37 12 108957906 108957906 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014301.3 +1 reviewed p.D5G 0.001 213 0% 139 33.1% 1 0% benign(0.001) - - NULL CORO1C 23603 genome.wustl.edu 37 12 109042552 109042552 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014325.2 -1 reviewed p.F378 1.000 72 0% 83 33.7% 30 36.6% - - - HMMPfam_DUF1900 SSH1 54434 genome.wustl.edu 37 12 109198847 109198847 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000360239 -1 known p.S17L 0.999 105 0% 121 25.6% 0 - benign(0.001) deleterious(0) neutral(0.445) HMMSmart_DSPc DAO 1610 genome.wustl.edu 37 12 109293243 109293243 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001917.4 +1 reviewed p.N302H 0.006 169 0% 167 24.6% 0 - benign(0.058) tolerated(0.08) neutral(0.303) HMMPfam_DAO,superfamily_Nucleotide-binding domain DAO 1610 genome.wustl.edu 37 12 109294278 109294278 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001917.4 +1 reviewed p.K337N 0.965 508 0% 528 28.8% 0 - benign(0.287) deleterious(0.04) neutral(0.438) superfamily_Nucleotide-binding domain USP30 84749 genome.wustl.edu 37 12 109509448 109509448 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032663.3 +1 validated p.S171L 0.997 155 0% 170 29.4% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_UCH,superfamily_SSF54001 ACACB 32 genome.wustl.edu 37 12 109613832 109613832 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001093.3 +1 reviewed p.D438A 0.976 324 0.3% 197 13.7% 0 - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMPfam_CPSase_L_D2,superfamily_Glutathione synthetase ATP-binding domain-like ACACB 32 genome.wustl.edu 37 12 109644533 109644533 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001093.3 +1 reviewed p.E978* 0.000 171 0% 167 24.6% 0 - - - - HMMPfam_ACC_central ACACB 32 genome.wustl.edu 37 12 109696914 109696914 + Splice_Site SNP G G C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001093.3 +1 reviewed e46+1 1.000 153 0% 96 36.5% 0 - - - - - MYO1H 283446 genome.wustl.edu 37 12 109872858 109872858 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001101421.3 +1 provisional p.R688C 1.000 43 0% 32 46.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases IFT81 28981 genome.wustl.edu 37 12 110570439 110570439 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001143779.1 +1 validated p.K173Q 1.000 72 0% 56 28.6% 0 - possibly_damaging(0.691) tolerated(0.1) deleterious(0.534) NULL IFT81 28981 genome.wustl.edu 37 12 110581194 110581194 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001143779.1 +1 validated p.M263I 1.000 100 0% 85 24.7% 2 0% benign(0.003) tolerated(0.61) neutral(0.004) NULL GPN3 51184 genome.wustl.edu 37 12 110893464 110893464 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016301.3 -1 validated p.S197Y 1.000 172 0% 157 24.2% 0 - benign(0.005) tolerated(0.08) neutral(0.300) HMMPfam_ATP_bind_1,superfamily_P-loop containing nucleoside triphosphate hydrolases RAD9B 144715 genome.wustl.edu 37 12 110957710 110957710 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152442.3 +1 validated p.Q293H 0.306 137 0% 164 30.5% 0 - probably_damaging(0.992) deleterious(0.03) deleterious(0.812) NULL CCDC63 160762 genome.wustl.edu 37 12 111319070 111319070 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152591.1 +1 provisional p.E275* 0.281 61 0% 62 27.4% 0 - - - - NULL CCDC63 160762 genome.wustl.edu 37 12 111330899 111330899 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152591.1 +1 provisional p.R365Q 0.917 77 0% 67 20.9% 0 - probably_damaging(0.998) tolerated(0.56) deleterious(0.481) NULL SH2B3 10019 genome.wustl.edu 37 12 111885615 111885615 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005475.2 +1 reviewed p.V464 0.970 70 0% 59 30.5% 7 14.2% - - - NULL ATXN2 6311 genome.wustl.edu 37 12 111890605 111890605 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000389154 -1 known p.E403K 1.000 55 0% 60 26.7% 43 30.2% benign(0.007) tolerated(0.2) neutral(0.049) NULL BRAP 8315 genome.wustl.edu 37 12 112121104 112121104 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006768.3 -1 reviewed p.E30D 1.000 206 0% 243 26.7% 1 0% benign(0) tolerated(0.55) neutral(0.007) NULL MAPKAPK5 8550 genome.wustl.edu 37 12 112306616 112306616 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139078.1 +1 reviewed p.S115I 1.000 27 0% 28 17.9% 8 50% benign(0.382) tolerated(0.24) neutral(0.160) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NAA25 80018 genome.wustl.edu 37 12 112471069 112471069 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024953.3 -1 reviewed p.E922* 1.000 226 0% 202 21.8% 0 - - - - NULL NAA25 80018 genome.wustl.edu 37 12 112478294 112478294 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024953.3 -1 reviewed p.F843L 1.000 153 0% 117 22.2% 2 50% possibly_damaging(0.631) deleterious(0.02) deleterious(0.604) NULL NAA25 80018 genome.wustl.edu 37 12 112481549 112481549 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024953.3 -1 reviewed p.K710 1.000 248 0% 210 24.8% 0 - - - - NULL OAS3 4940 genome.wustl.edu 37 12 113400697 113400697 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006187.2 +1 reviewed p.R692* 0.000 423 0% 415 23.9% 13 23% - - - HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain OAS2 4939 genome.wustl.edu 37 12 113435421 113435421 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016817.2 +1 reviewed p.F242V 0.055 194 0% 261 28% 15 46.6% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain TPCN1 53373 genome.wustl.edu 37 12 113716009 113716009 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001143819.1 +1 validated p.Y472 0.906 42 0% 33 48.5% 1 100% - - - NULL MED13L 23389 genome.wustl.edu 37 12 116452926 116452926 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015335.3 -1 validated p.R388I 1.000 190 0% 183 22.4% 0 - probably_damaging(0.982) tolerated(0.08) deleterious(0.726) NULL NOS1 4842 genome.wustl.edu 37 12 117701725 117701725 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000620.2 -1 reviewed p.R731W 1.000 154 0% 197 29.4% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL KSR2 283455 genome.wustl.edu 37 12 117962914 117962914 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173598.4 -1 validated p.I625 1.000 47 0% 62 19.4% 0 - - - - superfamily_Protein kinase-like (PK-like) RFC5 5985 genome.wustl.edu 37 12 118467597 118467597 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007370.4 +1 reviewed p.R298Q 1.000 366 0% 368 24.5% 28 42.8% possibly_damaging(0.899) deleterious(0.04) deleterious(0.705) superfamily_Pol_clamp_load_C,HMMPfam_Rep_fac_C SUDS3 64426 genome.wustl.edu 37 12 118828947 118828947 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022491.2 +1 validated p.R126Q 1.000 85 0% 77 23.4% 1 100% possibly_damaging(0.747) deleterious(0.03) deleterious(0.639) HMMPfam_Sds3 CCDC60 160777 genome.wustl.edu 37 12 119978478 119978478 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178499.3 +1 validated p.S537 0.067 70 0% 78 30.8% 0 - - - - NULL CIT 11113 genome.wustl.edu 37 12 120295449 120295449 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007174.1 -1 validated p.E98K 1.000 510 0% 450 30% 0 - benign(0.032) tolerated(0.82) neutral(0.002) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SIRT4 23409 genome.wustl.edu 37 12 120750520 120750520 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012240.1 +1 reviewed p.A253 0.028 80 0% 106 28.3% 2 50% - - - HMMPfam_SIR2,superfamily_SSF52467 RNF10 9921 genome.wustl.edu 37 12 120990343 120990343 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014868.4 +1 reviewed p.F132L 1.000 173 0% 181 28.7% 10 50% benign(0.227) tolerated(0.41) neutral(0.037) NULL P2RX7 5027 genome.wustl.edu 37 12 121614955 121614955 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002562.4 +1 reviewed p.G326 0.990 65 0% 71 36.6% 0 - - - - HMMPfam_P2X_receptor RNF34 80196 genome.wustl.edu 37 12 121855615 121855615 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_194271.1 +1 reviewed p.S179 0.046 258 0% 268 24.6% 5 40% - - - NULL BCL7A 605 genome.wustl.edu 37 12 122492769 122492769 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020993.3 +1 reviewed p.E166D 1.000 124 0% 138 23.2% 4 50% benign(0.144) tolerated(0.29) neutral(0.042) NULL IL31 386653 genome.wustl.edu 37 12 122657080 122657080 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001014336.1 -1 validated p.S125Y 0.000 83 0% 146 15.1% 0 - probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL CLIP1 6249 genome.wustl.edu 37 12 122801328 122801328 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002956.2 -1 validated p.E1136 1.000 27 0% 30 13.3% 0 - - - - NULL ZCCHC8 55596 genome.wustl.edu 37 12 122964813 122964813 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017612.2 -1 validated p.K355T 0.670 34 0% 50 30% 2 0% benign(0.177) tolerated(0.16) neutral(0.076) NULL KNTC1 9735 genome.wustl.edu 37 12 123030763 123030763 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014708.4 +1 reviewed p.S237Y 0.861 77 0% 62 19.4% 0 - unknown(0) tolerated(0.08) - NULL DENR 8562 genome.wustl.edu 37 12 123253441 123253441 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003677.3 +1 reviewed p.I175 0.992 124 0% 94 29.8% 10 20% - - - HMMPfam_SUI1,superfamily_TIF_SUI1 CCDC62 84660 genome.wustl.edu 37 12 123282665 123282665 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_201435.3 +1 validated p.L299I 0.998 71 0% 55 21.8% 0 - probably_damaging(0.979) deleterious(0.04) deleterious(0.771) NULL DDX55 57696 genome.wustl.edu 37 12 124104235 124104235 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020936.1 +1 reviewed p.K530N 1.000 167 0% 136 19.9% 0 - benign(0.215) tolerated(0.1) neutral(0.307) NULL GTF2H3 2967 genome.wustl.edu 37 12 124144725 124144725 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001516.3 +1 provisional p.K290N 1.000 243 0% 265 32.8% 5 60% probably_damaging(0.996) tolerated(0.11) deleterious(0.733) NULL DNAH10 196385 genome.wustl.edu 37 12 124268667 124268667 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207437.3 +1 validated p.F330 0.000 109 0% 110 29.1% 0 - - - - HMMPfam_DHC_N1 DNAH10 196385 genome.wustl.edu 37 12 124297867 124297867 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207437.3 +1 validated p.L983M 0.997 314 0% 357 35.9% 0 - possibly_damaging(0.885) tolerated(0.13) deleterious(0.599) NULL DNAH10 196385 genome.wustl.edu 37 12 124350538 124350538 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207437.3 +1 validated p.R2244Q 1.000 197 0% 168 29.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH10 196385 genome.wustl.edu 37 12 124352467 124352467 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207437.3 +1 validated p.K2322N 1.000 86 0% 106 11.3% 0 - benign(0) tolerated(0.46) neutral(0.012) NULL DNAH10 196385 genome.wustl.edu 37 12 124359988 124359988 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207437.3 +1 validated p.E2599* 0.988 97 0% 129 24.8% 0 - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH10 196385 genome.wustl.edu 37 12 124382450 124382450 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207437.3 +1 validated p.K3020N 1.000 127 0% 156 35.9% 0 - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) NULL UBC 7316 genome.wustl.edu 37 12 125396967 125396967 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021009.4 -1 validated p.L451F 0.997 388 0% 369 17.9% 7019 14% possibly_damaging(0.916) deleterious(0) deleterious(0.811) HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like DHX37 57647 genome.wustl.edu 37 12 125470672 125470672 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032656.2 -1 reviewed p.K82 0.816 145 0% 156 24.4% 0 - - - - NULL TMEM132B 114795 genome.wustl.edu 37 12 125834408 125834408 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052907.2 +1 provisional p.D155Y 0.000 170 0% 151 26.5% 0 - benign(0.14) deleterious(0.04) neutral(0.361) NULL TMEM132B 114795 genome.wustl.edu 37 12 126137128 126137128 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052907.2 +1 provisional p.A681T 1.000 117 0% 124 22.6% 0 - probably_damaging(0.967) tolerated(0.23) neutral(0.450) NULL GLT1D1 144423 genome.wustl.edu 37 12 129360609 129360609 + Splice_Site SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144669.1 +1 provisional e2+2 0.993 138 0% 174 24.7% 0 - - - - - TMEM132D 121256 genome.wustl.edu 37 12 129559527 129559527 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133448.2 -1 validated p.F731L 0.998 175 0% 165 32.1% 0 - probably_damaging(1) tolerated(0.43) deleterious(0.513) NULL PIWIL1 9271 genome.wustl.edu 37 12 130831536 130831536 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004764.3 +1 reviewed p.T194 0.037 131 0% 103 26.2% 0 - - - - superfamily_PAZ domain PIWIL1 9271 genome.wustl.edu 37 12 130833930 130833930 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004764.3 +1 reviewed p.K294T 0.015 66 0% 55 32.7% 0 - benign(0) tolerated(0.46) neutral(0.012) HMMPfam_PAZ,superfamily_PAZ domain STX2 2054 genome.wustl.edu 37 12 131283133 131283133 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_194356.1 -1 reviewed p.D241 0.998 188 0% 175 33.1% 0 - - - - HMMPfam_SNARE,HMMSmart_SM00397,superfamily_t-snare proteins SFSWAP 6433 genome.wustl.edu 37 12 132239012 132239012 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004592.2 +1 reviewed p.F474 0.998 41 0% 39 20.5% 40 30% - - - HMMPfam_Surp,HMMSmart_SM00648,superfamily_Surp module (SWAP domain Pfam 01805) EP400 57634 genome.wustl.edu 37 12 132534955 132534955 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015409.3 +1 validated p.D2429Y 1.000 111 0% 119 35.3% 4 75% unknown(0) - - NULL POLE 5426 genome.wustl.edu 37 12 133212500 133212500 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006231.2 -1 validated p.S1930* 0.276 61 1.6% 73 26% 8 37.5% - - - NULL POLE 5426 genome.wustl.edu 37 12 133212568 133212568 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006231.2 -1 validated p.F1907L 1.000 76 0% 80 23.7% 4 75% benign(0.02) tolerated(0.69) neutral(0.003) HMMPfam_DUF1744 POLE 5426 genome.wustl.edu 37 12 133253184 133253184 + Missense_Mutation SNP G G C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006231.2 -1 validated p.P286R 1.000 29 0% 45 20% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_RNaseH_fold GOLGA3 2802 genome.wustl.edu 37 12 133378462 133378462 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005895.3 -1 reviewed p.S564L 0.995 28 0% 39 23.1% 13 38.4% probably_damaging(0.996) tolerated(0.09) deleterious(0.758) superfamily_Spectrin repeat ENSG00000214029 0 genome.wustl.edu 37 12 133697403 133697403 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000397313 -1 known p.R368 0.995 38 0% 35 22.9% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF268 10795 genome.wustl.edu 37 12 133780021 133780021 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003415.2 +1 validated p.P583 0.548 21 0% 17 35.3% 2 50% - - - superfamily_C2H2 and C2HC zinc fingers ZNF268 10795 genome.wustl.edu 37 12 133780083 133780083 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003415.2 +1 validated p.R604K 0.997 22 0% 16 37.5% 0 - probably_damaging(0.97) tolerated(0.32) neutral(0.436) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF268 10795 genome.wustl.edu 37 12 133780991 133780991 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003415.2 +1 validated p.L907I 0.903 27 0% 38 26.3% 3 66.6% possibly_damaging(0.925) deleterious(0.01) deleterious(0.779) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CDC42BPB 9578 genome.wustl.edu 37 13 19761302 19761302 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000240700 +1 known p.E26* 1.000 37 0% 35 14.3% 0 - - - - NULL TPTE2 93492 genome.wustl.edu 37 13 19999158 19999158 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_199254.2 -1 validated e19-1 0.996 57 0% 48 33.3% 0 - - - - - PSPC1 55269 genome.wustl.edu 37 13 20315772 20315772 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042414.1 -1 validated p.E329* 1.000 101 0% 92 41.3% 11 9% - - - NULL CRYL1 51084 genome.wustl.edu 37 13 21086683 21086683 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015974.2 -1 reviewed p.V16 1.000 39 0% 63 17.5% 5 0% - - - HMMPfam_3HCDH_N,superfamily_NAD(P)-binding Rossmann-fold domains IFT88 8100 genome.wustl.edu 37 13 21170326 21170326 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175605.3 +1 reviewed p.N155H 1.000 52 0% 49 30.6% 0 - benign(0.022) tolerated(0.6) neutral(0.005) NULL N6AMT2 221143 genome.wustl.edu 37 13 21306099 21306099 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174928.1 -1 provisional p.I130S 0.009 92 0% 106 16% 7 28.5% benign(0.03) tolerated(0.08) neutral(0.301) HMMPfam_DPPF N6AMT2 221143 genome.wustl.edu 37 13 21331605 21331605 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174928.1 -1 provisional p.E45* 1.000 226 0% 307 25.7% 2 0% - - - NULL XPO4 64328 genome.wustl.edu 37 13 21374438 21374438 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022459.4 -1 validated p.F668 1.000 267 0.4% 216 31.9% 1 0% - - - superfamily_ARM-type_fold SKA3 221150 genome.wustl.edu 37 13 21746492 21746492 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000314759 -1 known p.V106A 0.015 158 0% 155 21.9% 1 100% benign(0) tolerated(0.45) neutral(0.012) NULL EFHA1 221154 genome.wustl.edu 37 13 22067399 22067399 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152726.2 -1 validated p.G432C 0.858 261 0% 155 24.5% 5 0% possibly_damaging(0.943) deleterious(0.02) deleterious(0.770) NULL EFHA1 221154 genome.wustl.edu 37 13 22084146 22084146 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152726.2 -1 validated p.R253Q 1.000 139 0% 95 31.6% 1 0% probably_damaging(0.995) tolerated(0.41) deleterious(0.473) superfamily_SSF47473 SACS 26278 genome.wustl.edu 37 13 23905534 23905534 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014363.4 -1 reviewed p.P4161T 1.000 218 0% 163 29.4% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SACS 26278 genome.wustl.edu 37 13 23905732 23905732 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014363.4 -1 reviewed p.D4095Y 1.000 126 0% 94 26.6% 1 0% probably_damaging(0.992) tolerated(0.07) deleterious(0.766) NULL SACS 26278 genome.wustl.edu 37 13 23906479 23906479 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014363.4 -1 reviewed p.D3846Y 1.000 177 0.6% 139 33.8% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL SACS 26278 genome.wustl.edu 37 13 23907160 23907160 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014363.4 -1 reviewed p.E3619* 1.000 118 0% 110 39.1% 0 - - - - NULL SACS 26278 genome.wustl.edu 37 13 23908825 23908825 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014363.4 -1 reviewed p.E3064K 1.000 110 0% 79 31.6% 0 - benign(0.011) tolerated(0.46) neutral(0.013) NULL SACS 26278 genome.wustl.edu 37 13 23911784 23911784 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014363.4 -1 reviewed p.M2077I 1.000 82 0% 74 24.3% 0 - benign(0.001) tolerated(0.49) neutral(0.011) NULL SACS 26278 genome.wustl.edu 37 13 23913043 23913043 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014363.4 -1 reviewed p.E1658K 1.000 120 0% 184 21.7% 0 - possibly_damaging(0.506) tolerated(0.23) neutral(0.211) NULL SACS 26278 genome.wustl.edu 37 13 23913425 23913425 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014363.4 -1 reviewed p.F1530L 1.000 92 0% 112 11.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase SACS 26278 genome.wustl.edu 37 13 23913541 23913541 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014363.4 -1 reviewed p.E1492* 1.000 106 0% 137 39.4% 0 - - - - superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase SACS 26278 genome.wustl.edu 37 13 23913964 23913964 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014363.4 -1 reviewed p.E1351* 1.000 89 0% 70 18.6% 0 - - - - NULL SACS 26278 genome.wustl.edu 37 13 23914717 23914717 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014363.4 -1 reviewed p.E1100* 1.000 294 0% 255 24.7% 0 - - - - NULL SACS 26278 genome.wustl.edu 37 13 23915703 23915703 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014363.4 -1 reviewed p.R771I 0.963 137 0% 116 34.5% 0 - benign(0.014) tolerated(0.39) neutral(0.017) NULL SACS 26278 genome.wustl.edu 37 13 23929628 23929628 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014363.4 -1 reviewed p.V375L 0.001 154 0% 137 26.3% 0 - benign(0) tolerated(0.9) - NULL SACS 26278 genome.wustl.edu 37 13 23932558 23932558 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014363.4 -1 reviewed p.E174* 1.000 201 0% 185 26.5% 0 - - - - superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase TNFRSF19 55504 genome.wustl.edu 37 13 24190167 24190167 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018647.2 +1 reviewed p.C114 0.998 104 0% 69 37.7% 7 14.2% - - - HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,superfamily_TNF receptor-like MIPEP 4285 genome.wustl.edu 37 13 24460499 24460499 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005932.2 -1 reviewed p.S112 0.407 147 0% 131 28.2% 8 12.5% - - - superfamily_SSF55486 C1QTNF9 338872 genome.wustl.edu 37 13 24890237 24890237 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178540.3 +1 validated p.G32 0.977 99 0% 132 23.5% 0 - - - - HMMPfam_Collagen C1QTNF9 338872 genome.wustl.edu 37 13 24890263 24890263 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178540.3 +1 validated p.G41V 1.000 98 0% 141 17% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Collagen RNF17 56163 genome.wustl.edu 37 13 25436907 25436907 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031277.2 +1 reviewed p.K1317 1.000 209 0% 134 18.7% 0 - - - - NULL LOC100133284 100133284 genome.wustl.edu 37 13 25591774 25591774 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001715439.1 +1 model p.Q60 1.000 33 0% 30 16.7% 0 - - - - HMMPfam_Striatin MTMR6 9107 genome.wustl.edu 37 13 25841968 25841968 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004685.3 -1 validated p.E85* 1.000 236 0% 197 19.8% 0 - - - - superfamily_PH domain-like NUPL1 9818 genome.wustl.edu 37 13 25893470 25893470 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014089.3 +1 reviewed p.K231T 1.000 255 0% 229 30.6% 0 - benign(0.044) tolerated(0.81) neutral(0.003) NULL NUPL1 9818 genome.wustl.edu 37 13 25895091 25895091 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014089.3 +1 reviewed p.E271* 1.000 151 0% 129 32.6% 0 - - - - NULL ATP8A2 51761 genome.wustl.edu 37 13 26108321 26108321 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000381648 +1 known p.E130D 0.088 57 0% 48 20.8% 0 - possibly_damaging(0.647) tolerated(0.49) neutral(0.238) NULL ATP8A2 51761 genome.wustl.edu 37 13 26108340 26108340 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000381648 +1 known p.E137* 0.000 63 0% 47 29.8% 0 - - - - NULL ATP8A2 51761 genome.wustl.edu 37 13 26129175 26129175 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016529.4 +1 validated p.R411M 1.000 263 0% 295 22% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP8A2 51761 genome.wustl.edu 37 13 26154071 26154071 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016529.4 +1 validated p.E665K 1.000 235 0% 198 26.3% 0 - possibly_damaging(0.947) deleterious(0.01) deleterious(0.796) superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N ATP8A2 51761 genome.wustl.edu 37 13 26273425 26273425 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016529.4 +1 validated p.E776K 1.000 121 0% 100 29% 0 - benign(0.055) tolerated(0.08) neutral(0.303) superfamily_HAD-like USP12 219333 genome.wustl.edu 37 13 27669927 27669927 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182488.2 -1 provisional p.F128L 1.000 220 0% 189 27.5% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_UCH,superfamily_SSF54001 RASL11A 387496 genome.wustl.edu 37 13 27847449 27847449 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_206827.1 +1 provisional p.E183K 0.877 86 0% 84 27.4% 7 71.4% benign(0.268) tolerated(0.85) neutral(0.029) superfamily_SSF52540 LNX2 222484 genome.wustl.edu 37 13 28155548 28155548 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153371.3 -1 validated p.K98T 1.000 160 0% 93 19.4% 1 0% possibly_damaging(0.772) tolerated(0.16) neutral(0.346) NULL FLT3 2322 genome.wustl.edu 37 13 28622519 28622519 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004119.2 -1 reviewed p.E366D 0.916 393 0% 256 26.6% 0 - benign(0.004) tolerated(1) - NULL FLT3 2322 genome.wustl.edu 37 13 28631550 28631550 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004119.2 -1 reviewed p.E140* 1.000 118 0% 79 29.1% 0 - - - - NULL FLT1 2321 genome.wustl.edu 37 13 28886185 28886185 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002019.4 -1 reviewed p.R1146I 0.056 110 0% 69 20.3% 2 0% possibly_damaging(0.951) deleterious(0.01) deleterious(0.800) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) FLT1 2321 genome.wustl.edu 37 13 29041080 29041080 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002019.4 -1 reviewed p.K116N 0.912 182 0% 138 13.8% 1 0% possibly_damaging(0.826) tolerated(0.28) neutral(0.345) HMMSmart_SM00409 SLC46A3 283537 genome.wustl.edu 37 13 29287374 29287374 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135919.1 -1 validated p.R168Q 1.000 97 0% 58 19% 2 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC46A3 283537 genome.wustl.edu 37 13 29287458 29287458 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135919.1 -1 validated p.F140C 0.427 78 0% 53 35.8% 0 - benign(0.313) deleterious(0.01) deleterious(0.503) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter MTUS2 23281 genome.wustl.edu 37 13 29600920 29600920 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001033602.2 +1 validated p.L705 0.998 154 0% 116 23.3% 0 - - - - NULL KATNAL1 84056 genome.wustl.edu 37 13 30804708 30804708 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001014380.1 -1 validated p.T303 0.694 147 0% 117 34.2% 0 - - - - HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases USPL1 10208 genome.wustl.edu 37 13 31232960 31232960 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005800.4 +1 validated p.R916* 0.002 158 0% 144 32.6% 3 0% - - - NULL C13orf33 84935 genome.wustl.edu 37 13 31495938 31495938 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032849.3 +1 validated p.R248* 0.726 195 0% 199 34.2% 0 - - - - NULL HSPH1 10808 genome.wustl.edu 37 13 31714333 31714333 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006644.2 -1 validated p.F656L 0.961 203 0% 188 34% 30 53.3% possibly_damaging(0.944) deleterious(0) deleterious(0.833) HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain RXFP2 122042 genome.wustl.edu 37 13 32351543 32351543 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130806.3 +1 reviewed p.I224M 1.000 98 0% 72 16.7% 0 - probably_damaging(0.988) deleterious(0.03) deleterious(0.802) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like FRY 10129 genome.wustl.edu 37 13 32705925 32705925 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023037.2 +1 validated p.R278Q 1.000 133 0% 114 23.7% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL FRY 10129 genome.wustl.edu 37 13 32745211 32745211 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023037.2 +1 validated p.L652R 0.988 207 0% 152 30.3% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL FRY 10129 genome.wustl.edu 37 13 32758752 32758752 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023037.2 +1 validated p.E1024* 1.000 150 0% 96 24% 0 - - - - NULL FRY 10129 genome.wustl.edu 37 13 32760406 32760406 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023037.2 +1 validated p.R1110Q 1.000 415 0% 329 26.1% 0 - possibly_damaging(0.939) tolerated(0.34) neutral(0.408) NULL FRY 10129 genome.wustl.edu 37 13 32868675 32868675 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023037.2 +1 validated p.L2917 0.122 146 0% 122 23.8% 1 0% - - - NULL BRCA2 675 genome.wustl.edu 37 13 32907143 32907143 + Nonsense_Mutation SNP G G T rs80358438 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000059.3 +1 reviewed p.E510* 0.014 224 0% 235 30.2% 0 - - - - NULL BRCA2 675 genome.wustl.edu 37 13 32910767 32910767 + Missense_Mutation SNP C C A rs80358497 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000059.3 +1 reviewed p.L759I 0.000 106 0% 89 18% 0 - benign(0) tolerated(0.09) neutral(0.296) NULL BRCA2 675 genome.wustl.edu 37 13 32911181 32911181 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000059.3 +1 reviewed p.E897* 0.005 108 0% 67 25.4% 0 - - - - NULL BRCA2 675 genome.wustl.edu 37 13 32929416 32929416 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000059.3 +1 reviewed p.E2476* 0.002 125 0% 118 20.3% 0 - - - - NULL N4BP2L1 90634 genome.wustl.edu 37 13 32981475 32981475 + Missense_Mutation SNP G G C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052818.2 -1 validated p.A103G 1.000 133 0% 87 24.1% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases N4BP2L2 10443 genome.wustl.edu 37 13 33092051 33092051 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033111.3 -1 validated p.S118* 1.000 144 0% 137 19% 37 29.7% - - - NULL N4BP2L2 10443 genome.wustl.edu 37 13 33110498 33110498 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014887.2 -1 validated p.D223Y 0.007 212 0% 202 18.3% 3 66.6% probably_damaging(0.959) tolerated(0.06) deleterious(0.725) NULL PDS5B 23047 genome.wustl.edu 37 13 33347452 33347452 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015032.3 +1 reviewed p.S1433Y 1.000 302 0% 247 26.7% 5 0% unknown(0) tolerated(0.06) - NULL KL 9365 genome.wustl.edu 37 13 33635089 33635089 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004795.3 +1 reviewed p.E625K 1.000 90 0% 58 39.7% 0 - probably_damaging(0.953) tolerated(0.36) neutral(0.417) superfamily_(Trans)glycosidases KL 9365 genome.wustl.edu 37 13 33638220 33638220 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004795.3 +1 reviewed p.R979Q 0.892 220 0% 179 27.9% 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL NBEA 26960 genome.wustl.edu 37 13 35923297 35923297 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015678.4 +1 validated p.E1986K 1.000 117 0% 105 33.3% 0 - probably_damaging(0.965) deleterious(0.04) deleterious(0.756) HMMPfam_DUF1088,superfamily_ARM repeat NBEA 26960 genome.wustl.edu 37 13 36026257 36026257 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015678.4 +1 validated p.K2111N 1.000 72 0% 69 18.8% 0 - possibly_damaging(0.579) tolerated(0.08) deleterious(0.499) HMMPfam_DUF1088,superfamily_ARM repeat NBEA 26960 genome.wustl.edu 37 13 36124617 36124617 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015678.4 +1 validated p.L2197F 1.000 83 0% 71 18.3% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) superfamily_ARM repeat,superfamily_PH domain-like NBEA 26960 genome.wustl.edu 37 13 36202234 36202234 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015678.4 +1 validated p.F2489C 1.000 67 0% 82 11% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_Beach,superfamily_BEACH domain,superfamily_WD40 repeat-like NBEA 26960 genome.wustl.edu 37 13 36220436 36220436 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015678.4 +1 validated p.S2553Y 1.000 68 0% 62 24.2% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Beach,superfamily_BEACH domain,superfamily_WD40 repeat-like DCLK1 9201 genome.wustl.edu 37 13 36348746 36348746 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000360631 -1 known p.E717K 1.000 13 0.000 9 0.444 0 - benign(0.076) tolerated(0.05) neutral(0.351) NULL SOHLH2 54937 genome.wustl.edu 37 13 36744902 36744902 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017826.2 -1 validated p.E341D 0.400 214 0% 164 26.2% 0 - benign(0.395) deleterious(0) deleterious(0.572) NULL SOHLH2 54937 genome.wustl.edu 37 13 36765959 36765959 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017826.2 -1 validated p.G168E 0.000 188 0% 225 27.1% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SPG20 23111 genome.wustl.edu 37 13 36909222 36909222 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142294.1 -1 reviewed p.R249Q 1.000 219 0% 286 24.5% 9 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TRPC4 7223 genome.wustl.edu 37 13 38211598 38211598 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003306.1 -1 validated p.K797N 1.000 162 0% 143 27.3% 0 - benign(0.01) deleterious(0.02) neutral(0.384) NULL FREM2 341640 genome.wustl.edu 37 13 39264573 39264573 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207361.4 +1 reviewed p.S1031Y 1.000 213 0% 105 21.9% 0 - benign(0.408) tolerated(1) neutral(0.132) NULL NHLRC3 387921 genome.wustl.edu 37 13 39613321 39613321 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001012754.2 +1 validated p.L45I 0.873 86 0% 60 26.7% 3 33.3% benign(0.106) tolerated(0.16) neutral(0.068) superfamily_SSF101898 NHLRC3 387921 genome.wustl.edu 37 13 39616246 39616246 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001012754.2 +1 validated p.F130L 0.032 87 0% 64 31.2% 1 0% benign(0.011) tolerated(0.24) neutral(0.038) superfamily_SSF101898 LHFP 10186 genome.wustl.edu 37 13 40175338 40175338 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005780.2 -1 reviewed p.T6P 1.000 107 0% 105 34.3% 20 15% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FOXO1 2308 genome.wustl.edu 37 13 41134508 41134508 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002015.3 -1 reviewed p.L374I 1.000 369 0% 276 25.4% 6 33.3% possibly_damaging(0.942) deleterious(0.01) deleterious(0.792) NULL ELF1 1997 genome.wustl.edu 37 13 41507679 41507679 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_172373.3 -1 reviewed p.N581S 0.196 364 0% 374 29.9% 8 50% benign(0) tolerated(0.26) neutral(0.034) NULL ENSG00000244957 0 genome.wustl.edu 37 13 41704466 41704466 + RNA SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000499385 +1 novel NULL 0.000 37 0% 16 43.8% 0 - - - - - NAA16 79612 genome.wustl.edu 37 13 41910870 41910870 + Missense_Mutation SNP C C A rs193222711 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024561.4 +1 validated p.S331Y 1.000 205 0% 148 28.4% 0 - possibly_damaging(0.9) tolerated(0.46) neutral(0.368) superfamily_TPR-like KIAA0564 23078 genome.wustl.edu 37 13 42524137 42524137 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015058.1 -1 validated p.N59T 0.976 55 0% 54 33.3% 0 - benign(0) tolerated(0.77) neutral(0.001) NULL DGKH 160851 genome.wustl.edu 37 13 42763196 42763196 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178009.2 +1 reviewed p.E555K 1.000 162 0% 129 45% 0 - benign(0.01) tolerated(0.18) neutral(0.057) NULL AKAP11 11215 genome.wustl.edu 37 13 42876598 42876598 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016248.2 +1 reviewed p.R1239K 0.500 185 0% 190 30.5% 0 - benign(0.059) tolerated(0.56) neutral(0.010) NULL AKAP11 11215 genome.wustl.edu 37 13 42877168 42877168 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016248.2 +1 reviewed p.R1429I 0.059 191 0% 208 21.2% 0 - possibly_damaging(0.906) tolerated(0.11) deleterious(0.631) NULL TNFSF11 8600 genome.wustl.edu 37 13 43180940 43180940 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003701.3 +1 reviewed p.F280L 1.000 234 0% 203 23.6% 1 0% benign(0.001) tolerated(1) - HMMPfam_TNF,HMMSmart_SM00207,superfamily_TNF-like ZC3H13 23091 genome.wustl.edu 37 13 46542050 46542050 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015070.3 -1 validated p.R1304* 0.991 304 0% 326 23% 12 0% - - - NULL ZC3H13 23091 genome.wustl.edu 37 13 46542897 46542897 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015070.3 -1 validated p.R1261Q 1.000 561 0% 452 31.2% 6 50% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ZC3H13 23091 genome.wustl.edu 37 13 46559868 46559868 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015070.3 -1 validated p.K428N 1.000 541 0% 473 22.6% 3 0% unknown(0) tolerated(0.23) - NULL ZC3H13 23091 genome.wustl.edu 37 13 46619601 46619601 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015070.3 -1 validated p.K14 1.000 464 0% 355 29% 1 100% - - - NULL HTR2A 3356 genome.wustl.edu 37 13 47409525 47409525 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000621.3 -1 reviewed p.S288Y 1.000 178 0% 138 31.2% 0 - possibly_damaging(0.885) deleterious(0.01) deleterious(0.752) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SUCLA2 8803 genome.wustl.edu 37 13 48542766 48542766 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003850.2 -1 reviewed p.E256* 1.000 196 0% 134 23.1% 6 0% - - - HMMPfam_ATP-grasp_2,superfamily_Glutathione synthetase ATP-binding domain-like MED4 29079 genome.wustl.edu 37 13 48655850 48655850 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014166.2 -1 provisional p.E147* 1.000 86 0% 83 42.2% 23 0% - - - HMMPfam_VDRIP CYSLTR2 57105 genome.wustl.edu 37 13 49281635 49281635 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020377.2 +1 reviewed p.L228 0.960 146 0% 149 35.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CYSLTR2 57105 genome.wustl.edu 37 13 49281721 49281721 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020377.2 +1 reviewed p.F256L 1.000 125 0% 121 29.8% 1 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SETDB2 83852 genome.wustl.edu 37 13 50050936 50050936 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031915.2 +1 validated p.F222L 1.000 168 0% 170 22.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MBD,HMMSmart_SM00391,superfamily_DNA-binding domain RCBTB1 55213 genome.wustl.edu 37 13 50115126 50115126 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018191.3 -1 reviewed p.A447 0.195 67 0% 74 24.3% 4 75% - - - HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB SPRYD7 57213 genome.wustl.edu 37 13 50505247 50505247 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020456.2 -1 validated p.N44H 1.000 72 0% 73 26% 10 50% possibly_damaging(0.644) tolerated(0.33) neutral(0.249) NULL INTS6 26512 genome.wustl.edu 37 13 52025202 52025202 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012141.2 -1 reviewed p.N100H 1.000 95 0% 70 27.1% 0 - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) superfamily_vWA-like CCDC70 83446 genome.wustl.edu 37 13 52440185 52440185 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031290.2 +1 validated p.R224H 0.000 65 0% 61 26.2% 0 - benign(0.002) tolerated(0.06) neutral(0.323) NULL ATP7B 540 genome.wustl.edu 37 13 52548680 52548680 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000053.2 -1 reviewed p.R226W 0.063 266 0.8% 131 29% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL ALG11 440138 genome.wustl.edu 37 13 52593151 52593151 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004127.1 +1 provisional p.K49N 1.000 158 0% 198 26.3% 1 0% benign(0.132) tolerated(0.15) neutral(0.252) NULL UTP14C 9724 genome.wustl.edu 37 13 52603501 52603501 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021645.5 +1 validated p.I187M 1.000 176 0% 230 34.8% 2 50% possibly_damaging(0.781) deleterious(0.01) deleterious(0.698) HMMPfam_Utp14 THSD1 55901 genome.wustl.edu 37 13 52971567 52971567 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018676.3 -1 reviewed p.V274A 0.977 95 0% 133 18.8% 0 - probably_damaging(0.987) deleterious(0.02) deleterious(0.820) NULL LOC121981 121981 genome.wustl.edu 37 13 53394795 53394795 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_017783.1 +1 model NULL 1.000 211 0% 192 21.9% 0 - - - - - PCDH17 27253 genome.wustl.edu 37 13 58208642 58208642 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040429.2 +1 reviewed p.D654 1.000 25 0% 19 21.1% 3 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like LOC341689 341689 genome.wustl.edu 37 13 59103052 59103052 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_017487.3 +1 model NULL 0.120 294 0% 278 26.3% 0 - - - - - LOC341689 341689 genome.wustl.edu 37 13 59103335 59103335 + RNA SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_017487.3 +1 model NULL 0.104 222 0% 214 27.6% 0 - - - - - LOC341689 341689 genome.wustl.edu 37 13 59104229 59104229 + RNA SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_017487.3 +1 model NULL 0.063 198 0% 196 25.5% 0 - - - - - DIAPH3 81624 genome.wustl.edu 37 13 60498958 60498958 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042517.1 -1 validated p.K707N 1.000 250 0% 163 28.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) TDRD3 81550 genome.wustl.edu 37 13 61102575 61102575 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030794.2 +1 validated p.D313Y 1.000 248 0% 175 29.7% 5 60% probably_damaging(0.957) deleterious(0.01) deleterious(0.806) NULL TDRD3 81550 genome.wustl.edu 37 13 61103155 61103155 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030794.2 +1 validated p.R506Q 1.000 125 0% 91 29.7% 4 25% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL TDRD3 81550 genome.wustl.edu 37 13 61141662 61141662 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030794.2 +1 validated p.E615K 1.000 129 0% 132 34.1% 32 18.7% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL PCDH20 64881 genome.wustl.edu 37 13 61985627 61985627 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022843.3 -1 validated p.E869* 1.000 141 0% 73 24.7% 0 - - - - NULL LOC647264 647264 genome.wustl.edu 37 13 64406999 64406999 + RNA SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_078476.1 -1 model NULL 0.705 142 0% 150 28.7% 0 - - - - - KLHL1 57626 genome.wustl.edu 37 13 70413259 70413259 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020866.2 -1 validated p.K421 0.999 339 0% 220 28.6% 0 - - - - NULL DACH1 1602 genome.wustl.edu 37 13 72133978 72133978 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080759.4 -1 reviewed p.R470L 0.998 81 0% 54 22.2% 2 0% possibly_damaging(0.829) tolerated(0.19) neutral(0.364) NULL DACH1 1602 genome.wustl.edu 37 13 72204776 72204776 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080759.4 -1 reviewed p.K346 1.000 499 0% 520 29.4% 0 - - - - NULL BORA 79866 genome.wustl.edu 37 13 73309097 73309097 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024808.2 +1 validated e3-1 1.000 84 0% 73 30.1% 0 - - - - - DIS3 22894 genome.wustl.edu 37 13 73340168 73340168 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014953.3 -1 validated p.R638* 1.000 73 0% 49 26.5% 1 0% - - - HMMPfam_RNB TBC1D4 9882 genome.wustl.edu 37 13 75861065 75861065 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014832.2 -1 validated p.E1254* 1.000 209 0% 227 30.8% 2 0% - - - NULL MYCBP2 23077 genome.wustl.edu 37 13 77661630 77661630 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015057.4 -1 validated p.N3584H 1.000 120 0% 101 15.8% 3 33.3% possibly_damaging(0.502) tolerated(0.12) neutral(0.428) NULL MYCBP2 23077 genome.wustl.edu 37 13 77692588 77692588 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000360084 -1 known p.P161H 1.000 62 0% 42 14.3% 2 0% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL MYCBP2 23077 genome.wustl.edu 37 13 77739483 77739483 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015057.4 -1 validated p.V2090 1.000 231 0% 291 21% 0 - - - - NULL MYCBP2 23077 genome.wustl.edu 37 13 77740513 77740513 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015057.4 -1 validated p.K2059 1.000 144 0% 163 30.1% 0 - - - - NULL MYCBP2 23077 genome.wustl.edu 37 13 77764443 77764443 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015057.4 -1 validated p.K1328N 1.000 116 0% 68 38.2% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_PHR MYCBP2 23077 genome.wustl.edu 37 13 77837813 77837813 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015057.4 -1 validated p.D477N 1.000 181 0% 126 18.3% 2 0% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL SCEL 8796 genome.wustl.edu 37 13 78130797 78130797 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144777.2 +1 validated p.R37I 1.000 421 0% 275 36% 0 - possibly_damaging(0.767) deleterious(0) deleterious(0.729) NULL SCEL 8796 genome.wustl.edu 37 13 78165564 78165564 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144777.2 +1 validated p.E221* 0.265 61 0% 81 25.9% 0 - - - - NULL SCEL 8796 genome.wustl.edu 37 13 78176795 78176795 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144777.2 +1 validated p.Q328H 0.969 292 0% 235 24.3% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SCEL 8796 genome.wustl.edu 37 13 78183236 78183236 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144777.2 +1 validated p.E421* 0.242 132 0% 121 25.6% 0 - - - - NULL SCEL 8796 genome.wustl.edu 37 13 78191733 78191733 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144777.2 +1 validated e24-1 0.996 218 0% 216 25.5% 0 - - - - - EDNRB 1910 genome.wustl.edu 37 13 78474736 78474736 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000115.2 -1 reviewed p.C335* 0.983 127 0% 144 15.3% 1 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RNF219 79596 genome.wustl.edu 37 13 79190358 79190358 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024546.3 -1 validated p.S513Y 0.999 256 0% 279 28% 1 100% possibly_damaging(0.783) deleterious(0.03) deleterious(0.657) NULL RBM26 64062 genome.wustl.edu 37 13 79951537 79951537 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022118.3 -1 validated p.E102* 1.000 105 0% 82 23.2% 0 - - - - superfamily_SSF101233 PTMAP5 150928 genome.wustl.edu 37 13 82264270 82264270 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000393073 +1 known p.V23G 0.950 65 0% 57 17.5% 443 0.2% - - - HMMPfam_Prothymosin SLITRK1 114798 genome.wustl.edu 37 13 84455409 84455409 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052910.1 -1 reviewed p.F78 1.000 123 0% 156 12.8% 0 - - - - superfamily_SSF52058 SLITRK6 84189 genome.wustl.edu 37 13 86370073 86370073 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032229.2 -1 validated p.R191C 1.000 287 0% 301 30.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like SLITRK5 26050 genome.wustl.edu 37 13 88327750 88327750 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015567.1 +1 validated p.S36L 1.000 236 0% 310 23.2% 0 - benign(0) tolerated(0.06) neutral(0.323) NULL SLITRK5 26050 genome.wustl.edu 37 13 88329002 88329002 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015567.1 +1 validated p.F453 0.917 74 0% 97 33% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like SLITRK5 26050 genome.wustl.edu 37 13 88329984 88329984 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015567.1 +1 validated p.E781K 1.000 28 0% 36 27.8% 2 0% probably_damaging(0.996) tolerated(0.07) deleterious(0.780) NULL GPC5 2262 genome.wustl.edu 37 13 92345744 92345744 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004466.4 +1 reviewed p.R210I 0.002 119 0% 84 29.8% 0 - benign(0.003) tolerated(0.29) neutral(0.029) HMMPfam_Glypican GPC5 2262 genome.wustl.edu 37 13 92380916 92380916 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004466.4 +1 reviewed p.R384I 1.000 380 0% 361 26.3% 0 - probably_damaging(0.977) tolerated(0.09) deleterious(0.716) HMMPfam_Glypican GPC5 2262 genome.wustl.edu 37 13 92408550 92408550 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004466.4 +1 reviewed p.E386* 1.000 372 0% 285 28.1% 0 - - - - HMMPfam_Glypican DCT 1638 genome.wustl.edu 37 13 95118887 95118887 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001129889.1 -1 validated p.I207 0.184 216 0% 231 32% 0 - - - - HMMPfam_Tyrosinase,superfamily_Di-copper_centre DCT 1638 genome.wustl.edu 37 13 95131486 95131486 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001129889.1 -1 validated p.F8 0.016 67 0% 66 37.9% 0 - - - - NULL DZIP1 22873 genome.wustl.edu 37 13 96242066 96242066 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198968.2 -1 validated p.S655Y 0.017 263 0% 205 24.9% 0 - probably_damaging(0.978) deleterious(0.03) deleterious(0.785) NULL DZIP1 22873 genome.wustl.edu 37 13 96242579 96242579 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198968.2 -1 validated p.E599 0.045 310 0% 235 30.6% 2 0% - - - NULL DZIP1 22873 genome.wustl.edu 37 13 96242691 96242691 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198968.2 -1 validated p.I562R 0.011 248 0% 186 28% 1 0% possibly_damaging(0.604) deleterious(0.02) deleterious(0.593) NULL DNAJC3 5611 genome.wustl.edu 37 13 96394968 96394968 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000360638 +1 known p.M158I 0.047 499 0% 521 24.6% 0 - - - - NULL UGGT2 55757 genome.wustl.edu 37 13 96506702 96506702 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020121.3 -1 validated p.R1346* 0.901 199 0% 161 30.4% 3 0% - - - superfamily_Nucleotide-diphospho-sugar transferases UGGT2 55757 genome.wustl.edu 37 13 96579550 96579550 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020121.3 -1 validated p.M673T 1.000 104 0% 60 10% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL UGGT2 55757 genome.wustl.edu 37 13 96589189 96589189 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020121.3 -1 validated p.E656* 0.995 287 0% 227 29.1% 0 - - - - NULL UGGT2 55757 genome.wustl.edu 37 13 96622496 96622496 + Nonsense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020121.3 -1 validated p.L402* 0.873 510 0.4% 353 26.1% 0 - - - - NULL OXGR1 27199 genome.wustl.edu 37 13 97639987 97639987 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080818.3 -1 reviewed p.A9 0.064 273 0% 225 29.3% 0 - - - - superfamily_Family A G protein-coupled receptor-like FARP1 10160 genome.wustl.edu 37 13 99045956 99045956 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005766.2 +1 reviewed p.S383L 0.770 38 0% 34 20.6% 11 0% benign(0.001) tolerated(0.18) neutral(0.056) NULL FARP1 10160 genome.wustl.edu 37 13 99098432 99098432 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005766.2 +1 reviewed p.F959L 1.000 51 0% 53 9.4% 302 15.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like STK24 8428 genome.wustl.edu 37 13 99127546 99127546 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003576.3 -1 validated p.D145N 1.000 68 0% 56 19.6% 12 33.3% possibly_damaging(0.892) tolerated(0.07) deleterious(0.670) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DOCK9 23348 genome.wustl.edu 37 13 99554115 99554115 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130049.1 -1 validated p.L475I 1.000 39 0% 33 42.4% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL GPR183 1880 genome.wustl.edu 37 13 99947473 99947473 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004951.4 -1 reviewed p.F309L 1.000 215 0% 169 32.5% 8 0% possibly_damaging(0.947) tolerated(0.16) neutral(0.450) superfamily_SSF81321 GPR183 1880 genome.wustl.edu 37 13 99948103 99948103 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004951.4 -1 reviewed p.I99 0.099 182 0% 156 30.8% 18 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 TM9SF2 9375 genome.wustl.edu 37 13 100193889 100193889 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004800.1 +1 provisional p.D329Y 1.000 344 0% 242 29.8% 25 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EMP70 TM9SF2 9375 genome.wustl.edu 37 13 100196132 100196132 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004800.1 +1 provisional p.E345* 1.000 237 0% 158 29.7% 18 5.5% - - - HMMPfam_EMP70 CLYBL 171425 genome.wustl.edu 37 13 100511124 100511124 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000339105 +1 known p.R87* 0.980 89 0% 89 24.7% 2 0% - - - HMMPfam_HpcH_HpaI,superfamily_Phosphoenolpyruvate/pyruvate domain NALCN 259232 genome.wustl.edu 37 13 101755641 101755641 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052867.2 -1 validated p.S980L 1.000 187 0% 168 39.9% 0 - probably_damaging(0.982) tolerated(0.14) deleterious(0.676) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels NALCN 259232 genome.wustl.edu 37 13 101768898 101768898 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000376200 -1 known p.K133N 1.000 50 0% 38 36.8% 0 - - - - NULL NALCN 259232 genome.wustl.edu 37 13 101944627 101944627 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052867.2 -1 validated p.R297H 1.000 156 0% 137 28.5% 0 - possibly_damaging(0.645) tolerated(0.16) neutral(0.285) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TPP2 7174 genome.wustl.edu 37 13 103292684 103292684 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003291.2 +1 reviewed p.R660* 1.000 121 0% 104 22.1% 4 0% - - - NULL METTL21C 196541 genome.wustl.edu 37 13 103338488 103338488 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010977.1 -1 predicted p.D230N 0.999 80 0% 61 36.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Methyltransf_16,superfamily_SSF53335 TEX30 93081 genome.wustl.edu 37 13 103421875 103421875 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138779.3 -1 validated p.P11H 1.000 118 0% 88 14.8% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF53474 KDELC1 79070 genome.wustl.edu 37 13 103441556 103441556 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024089.2 -1 reviewed p.N367H 0.923 143 0% 155 29% 4 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_CAP10,HMMPfam_DUF821 KDELC1 79070 genome.wustl.edu 37 13 103445731 103445731 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024089.2 -1 reviewed p.R211I 1.000 121 0% 79 34.2% 1 100% probably_damaging(0.954) deleterious(0) deleterious(0.842) HMMPfam_DUF821 BIVM 54841 genome.wustl.edu 37 13 103474151 103474151 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017693.3 +1 validated p.E254* 1.000 148 0% 142 42.3% 1 100% - - - NULL ERCC5 2073 genome.wustl.edu 37 13 103514931 103514931 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000123.2 +1 reviewed p.L478F 0.000 97 0% 96 12.5% 9 11.1% benign(0.001) tolerated(0.27) neutral(0.034) superfamily_PIN domain-like ERCC5 2073 genome.wustl.edu 37 13 103520605 103520605 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000123.2 +1 reviewed p.F892L 1.000 214 0% 149 22.1% 2 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_5' to 3' exonuclease C-terminal subdomain LIG4 3981 genome.wustl.edu 37 13 108862744 108862744 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098268.1 -1 reviewed p.F291L 1.000 102 0% 77 18.2% 1 100% possibly_damaging(0.929) deleterious(0.02) deleterious(0.759) HMMPfam_DNA_ligase_A_M,superfamily_SSF56091 MYO16 23026 genome.wustl.edu 37 13 109475550 109475550 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015011.1 +1 validated p.L319V 0.000 317 0% 256 36.7% 0 - benign(0.059) tolerated(0.18) neutral(0.060) NULL MYO16 23026 genome.wustl.edu 37 13 109496740 109496740 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015011.1 +1 validated p.D361Y 1.000 221 0% 117 20.5% 0 - probably_damaging(0.996) deleterious(0.05) deleterious(0.807) NULL MYO16 23026 genome.wustl.edu 37 13 109699295 109699295 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015011.1 +1 validated p.K921T 1.000 419 0% 242 28.5% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO16 23026 genome.wustl.edu 37 13 109817279 109817279 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015011.1 +1 validated p.R1710Q 0.769 79 0% 68 36.8% 0 - probably_damaging(0.974) deleterious(0.01) deleterious(0.822) NULL COL4A1 1282 genome.wustl.edu 37 13 110802717 110802717 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001845.4 -1 reviewed p.R1668I 1.000 42 0% 26 42.3% 280 0% unknown(0) deleterious(0.01) - HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like COL4A1 1282 genome.wustl.edu 37 13 110839483 110839483 + Splice_Site SNP A A G rs112314120 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001845.4 -1 reviewed e25+2 1.000 126 0% 83 27.7% 0 - - - - - COL4A1 1282 genome.wustl.edu 37 13 110866154 110866154 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001845.4 -1 reviewed p.G85E 1.000 126 0% 104 38.5% 9 0% unknown(0) deleterious(0.01) - NULL COL4A2 1284 genome.wustl.edu 37 13 111134946 111134946 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001846.2 +1 reviewed p.E948K 0.982 96 0% 96 20.8% 24 0% possibly_damaging(0.778) tolerated(0.19) neutral(0.340) HMMPfam_Collagen ARHGEF7 8874 genome.wustl.edu 37 13 111896631 111896631 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001113511.1 +1 reviewed p.E335* 1.000 108 0% 98 32.7% 0 - - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) TUBGCP3 10426 genome.wustl.edu 37 13 113153399 113153399 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006322.4 -1 provisional p.R803Q 0.988 150 0% 141 27% 5 0% probably_damaging(0.988) tolerated(0.06) deleterious(0.760) NULL TUBGCP3 10426 genome.wustl.edu 37 13 113174225 113174225 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006322.4 -1 provisional p.R619Q 0.394 91 0% 80 37.5% 2 50% benign(0.001) tolerated(0.25) neutral(0.037) HMMPfam_Spc97_Spc98 TUBGCP3 10426 genome.wustl.edu 37 13 113181698 113181698 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006322.4 -1 provisional p.Q479P 1.000 104 0% 84 19% 1 0% possibly_damaging(0.816) deleterious(0.03) deleterious(0.673) HMMPfam_Spc97_Spc98 C13orf35 400165 genome.wustl.edu 37 13 113333490 113333490 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207440.1 +1 provisional e1-1 0.000 10 0% 19 26.3% 0 - - - - - ATP11A 23250 genome.wustl.edu 37 13 113488969 113488969 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000418678 +1 known p.S517L 0.011 236 0% 147 37.4% 4 0% - - - superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N PROZ 8858 genome.wustl.edu 37 13 113815278 113815278 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003891.1 +1 provisional p.R84L 0.000 51 0% 60 10% 0 - benign(0.09) tolerated(0.15) neutral(0.247) HMMPfam_Gla,HMMSmart_SM00069,superfamily_GLA-domain PROZ 8858 genome.wustl.edu 37 13 113819410 113819410 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003891.1 +1 provisional p.P183 0.001 37 0% 28 25% 0 - - - - HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,superfamily_EGF/Laminin CUL4A 8451 genome.wustl.edu 37 13 113898762 113898762 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008895.1 +1 validated p.E423* 1.000 28 0% 39 12.8% 14 0% - - - HMMPfam_Cullin,superfamily_Cullin homology domain GAS6 2621 genome.wustl.edu 37 13 114531619 114531619 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000820.2 -1 reviewed p.I403 0.772 7 0.000 12 0.333 23 0% - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 CDC16 8881 genome.wustl.edu 37 13 115008795 115008795 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001078645.1 +1 reviewed p.R202H 0.904 92 0% 93 24.7% 3 33.3% benign(0.001) tolerated(0.28) neutral(0.032) superfamily_TPR-like CHAMP1 283489 genome.wustl.edu 37 13 115091019 115091019 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032436.2 +1 validated p.L568 0.000 777 0% 785 29.8% 2 50% - - - NULL OR11H12 440153 genome.wustl.edu 37 14 19378551 19378551 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013354.1 +1 provisional p.L320M 0.138 451 0% 651 19.2% 0 - benign(0.113) tolerated(0.2) neutral(0.058) superfamily_SSF81321 POTEG 404785 genome.wustl.edu 37 14 19559150 19559150 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005356.2 +1 validated p.E266K 0.144 162 0% 136 8.8% 0 - probably_damaging(0.986) deleterious(0.03) deleterious(0.799) HMMSmart_SM00248,superfamily_Ankyrin repeat POTEG 404785 genome.wustl.edu 37 14 19574200 19574200 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005356.2 +1 validated p.M419I 0.023 523 0% 503 9.7% 0 - benign(0) tolerated(0.52) neutral(0.009) NULL OR11H2 79334 genome.wustl.edu 37 14 20181450 20181450 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000334072 -1 known p.R209I 0.001 913 0% 1119 12.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR11H2 79334 genome.wustl.edu 37 14 20181799 20181799 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000334072 -1 known p.V93F 0.163 655 0% 716 7.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR11H2 79334 genome.wustl.edu 37 14 20181827 20181827 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000334072 -1 known p.F83L 0.010 505 0.2% 569 10.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4Q3 441669 genome.wustl.edu 37 14 20216237 20216237 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_172194.1 +1 provisional p.F217L 0.292 286 0% 376 21.5% 0 - benign(0) tolerated(0.14) neutral(0.249) HMMPfam_7tm_1,superfamily_SSF81321 OR4M1 441670 genome.wustl.edu 37 14 20248533 20248533 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005500.1 +1 provisional p.S18P 0.431 785 0% 730 14% 0 - possibly_damaging(0.512) deleterious(0) deleterious(0.617) superfamily_Family A G protein-coupled receptor-like OR4M1 441670 genome.wustl.edu 37 14 20248651 20248651 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005500.1 +1 provisional p.S57Y 0.970 972 0% 942 19.3% 0 - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4K2 390431 genome.wustl.edu 37 14 20344443 20344443 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005501.1 +1 provisional p.K6T 0.133 311 0% 269 15.6% 0 - benign(0) tolerated(0.32) neutral(0.024) superfamily_Family A G protein-coupled receptor-like OR4K5 79317 genome.wustl.edu 37 14 20389557 20389557 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005483.1 +1 provisional p.I264 0.000 952 0% 958 17.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4K13 390433 genome.wustl.edu 37 14 20502241 20502241 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004714.1 -1 provisional p.R226M 0.000 225 0% 160 33.1% 0 - possibly_damaging(0.7) deleterious(0) deleterious(0.696) HMMPfam_7tm_1,superfamily_SSF81321 OR4N5 390437 genome.wustl.edu 37 14 20612639 20612639 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004724.1 +1 provisional p.L249I 1.000 763 0% 858 30.8% 0 - benign(0.043) tolerated(0.07) neutral(0.322) HMMPfam_7tm_1,superfamily_SSF81321 OR11G2 390439 genome.wustl.edu 37 14 20665531 20665531 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005503.1 +1 provisional p.L13 0.025 72 0% 74 18.9% 0 - - - - PatternScan_G_PROTEIN_RECEP_F1_1 OR11G2 390439 genome.wustl.edu 37 14 20666219 20666219 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005503.1 +1 provisional p.P242H 0.234 325 0% 304 26.6% 0 - benign(0.247) tolerated(0.54) neutral(0.033) HMMPfam_7tm_1,superfamily_SSF81321 OR11H6 122748 genome.wustl.edu 37 14 20692231 20692231 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004480.1 +1 provisional p.F121L 0.997 263 0% 264 33% 0 - benign(0.194) deleterious(0.01) neutral(0.424) HMMPfam_7tm_1,superfamily_SSF81321 OR11H4 390442 genome.wustl.edu 37 14 20711400 20711400 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004479.1 +1 provisional p.F150L 0.000 159 0% 178 27% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PARP2 10038 genome.wustl.edu 37 14 20824590 20824590 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005484.3 +1 reviewed p.N422S 1.000 381 0% 411 30.9% 12 33.3% probably_damaging(0.973) deleterious(0.01) deleterious(0.821) HMMPfam_PARP,superfamily_ADP-ribosylation RNASE9 390443 genome.wustl.edu 37 14 21024823 21024823 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001673.3 -1 provisional p.L136F 0.000 136 0% 134 23.9% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_RNase A-like OR6S1 341799 genome.wustl.edu 37 14 21109481 21109481 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001968.1 -1 provisional p.R124C 1.000 95 0% 91 31.9% 0 - possibly_damaging(0.671) deleterious(0.01) deleterious(0.643) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 RNASE6 6039 genome.wustl.edu 37 14 21250048 21250048 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005615.4 +1 validated p.N64Y 0.987 217 0% 293 29% 13 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RnaseA,HMMSmart_SM00092,PatternScan_RNASE_PANCREATIC,superfamily_RNase A-like LOC643332 643332 genome.wustl.edu 37 14 21387536 21387536 + RNA SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_016287.2 +1 model NULL 0.062 31 0% 25 24% 1 0% - - - - SUPT16H 11198 genome.wustl.edu 37 14 21825452 21825452 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007192.3 -1 reviewed p.F855C 1.000 115 0% 150 26.7% 48 45.8% possibly_damaging(0.743) deleterious(0) deleterious(0.717) HMMPfam_Rtt106 CHD8 57680 genome.wustl.edu 37 14 21871806 21871806 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020920.3 -1 reviewed p.I829 1.000 49 0% 29 34.5% 1 100% - - - NULL SALL2 6297 genome.wustl.edu 37 14 21992693 21992693 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005407.1 -1 validated p.I390T 1.000 67 0% 91 14.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers OR10G3 26533 genome.wustl.edu 37 14 22038012 22038012 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005465.1 -1 validated p.I288 1.000 69 0% 67 28.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4E2 26686 genome.wustl.edu 37 14 22133389 22133389 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001912.1 +1 validated p.F31L 1.000 377 0% 409 23.7% 0 - probably_damaging(0.997) tolerated(0.07) deleterious(0.785) superfamily_SSF81321 ACIN1 22985 genome.wustl.edu 37 14 23528431 23528431 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014977.3 -1 validated p.R1318C 1.000 92 0% 193 38.3% 205 37% unknown(0) deleterious(0) - NULL ACIN1 22985 genome.wustl.edu 37 14 23549596 23549596 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014977.3 -1 validated p.I374 0.662 154 0% 193 21.2% 4 50% - - - NULL SLC7A8 23428 genome.wustl.edu 37 14 23600757 23600757 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000334354 -1 known p.R139C 1.000 32 0% 31 38.7% 2 0% benign(0.249) tolerated(0.16) neutral(0.085) NULL CMTM5 116173 genome.wustl.edu 37 14 23846581 23846581 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138460.2 +1 reviewed p.E41K 0.996 44 0% 47 36.2% 0 - possibly_damaging(0.946) tolerated(0.05) deleterious(0.736) HMMPfam_MARVEL MYH6 4624 genome.wustl.edu 37 14 23869471 23869471 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002471.3 -1 validated p.I525 0.400 67 0% 54 24.1% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH7 4625 genome.wustl.edu 37 14 23885404 23885404 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000257.2 -1 reviewed p.R1588C 1.000 93 0% 126 23.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_tail_1 MYH7 4625 genome.wustl.edu 37 14 23886423 23886423 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000257.2 -1 reviewed p.N1486 0.985 128 0% 193 24.4% 0 - - - - HMMPfam_Myosin_tail_1,superfamily_Prefoldin MYH7 4625 genome.wustl.edu 37 14 23889159 23889159 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000257.2 -1 reviewed p.I1207 0.746 57 0% 114 24.6% 0 - - - - HMMPfam_Myosin_tail_1,superfamily_Prefoldin MYH7 4625 genome.wustl.edu 37 14 23896949 23896949 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000257.2 -1 reviewed p.S578Y 1.000 99 0% 146 26.7% 0 - possibly_damaging(0.849) deleterious(0) deleterious(0.770) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH7 4625 genome.wustl.edu 37 14 23898488 23898488 + Missense_Mutation SNP G G A rs3218714 byCluster TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000257.2 -1 reviewed p.R403W 0.944 169 0% 247 29.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases AP1G2 8906 genome.wustl.edu 37 14 24030804 24030804 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003917.2 -1 reviewed p.G592S 0.001 38 0% 47 29.8% 26 23% benign(0) tolerated(0.65) neutral(0.003) NULL DHRS4L1 728635 genome.wustl.edu 37 14 24517368 24517368 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001082488.1 +1 provisional p.L141M 1.000 98 0% 89 30.3% 0 - possibly_damaging(0.87) tolerated(0.17) neutral(0.397) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains LRRC16B 90668 genome.wustl.edu 37 14 24523678 24523678 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138360.3 +1 validated p.R107Q 0.010 71 0% 60 31.7% 0 - unknown(0) tolerated(0.64) - NULL LRRC16B 90668 genome.wustl.edu 37 14 24524016 24524016 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138360.3 +1 validated p.C153 0.991 44 0% 50 36% 0 - - - - NULL LRRC16B 90668 genome.wustl.edu 37 14 24529255 24529255 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138360.3 +1 validated p.E649K 0.998 45 0% 27 29.6% 0 - unknown(0) deleterious(0.02) - NULL PCK2 5106 genome.wustl.edu 37 14 24566322 24566322 + Missense_Mutation SNP G G A rs112490159 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004563.2 +1 reviewed p.R84Q 0.998 92 0% 127 26% 17 11.7% benign(0.025) tolerated(0.43) neutral(0.014) HMMPfam_PEPCK,superfamily_PEP carboxykinase N-terminal domain DCAF11 80344 genome.wustl.edu 37 14 24586589 24586589 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025230.4 +1 reviewed p.R133Q 0.989 43 0% 60 28.3% 6 0% benign(0) tolerated(0.46) neutral(0.012) NULL RNF31 55072 genome.wustl.edu 37 14 24629123 24629123 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017999.4 +1 validated p.E984* 0.972 130 0% 140 18.6% 56 8.9% - - - NULL NFATC4 4776 genome.wustl.edu 37 14 24839598 24839598 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001136022.1 +1 reviewed p.R395W 0.973 27 0% 25 20% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NFATC4 4776 genome.wustl.edu 37 14 24839797 24839797 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001136022.1 +1 reviewed p.F461S 1.000 35 0% 39 25.6% 2 0% probably_damaging(0.979) tolerated(0.14) deleterious(0.671) NULL NYNRIN 57523 genome.wustl.edu 37 14 24885241 24885241 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025081.2 +1 validated p.R1429Q 1.000 99 1% 86 22.1% 1 0% possibly_damaging(0.946) deleterious(0.01) deleterious(0.796) superfamily_Ribonuclease H-like KHNYN 23351 genome.wustl.edu 37 14 24905658 24905658 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015299.2 +1 validated p.G584C 0.998 92 0% 75 14.7% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GZMB 3002 genome.wustl.edu 37 14 25101113 25101113 + Missense_Mutation SNP G G C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004131.4 -1 reviewed p.T184S 0.000 259 0% 126 15.9% 135 0% benign(0) tolerated(0.43) neutral(0.013) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases STXBP6 29091 genome.wustl.edu 37 14 25288541 25288541 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000445298 -1 known p.S2L 0.000 53 0% 51 29.4% 0 - unknown(0) - - NULL NOVA1 4857 genome.wustl.edu 37 14 26939685 26939685 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006491.2 -1 reviewed p.I177 0.065 98 0% 63 42.9% 0 - - - - NULL SCFD1 23256 genome.wustl.edu 37 14 31164051 31164051 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016106.2 +1 validated p.L439I 1.000 136 0% 112 25% 0 - benign(0.002) tolerated(0.12) neutral(0.261) HMMPfam_Sec1,superfamily_Sec1-like COCH 1690 genome.wustl.edu 37 14 31358979 31358979 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135058.1 +1 reviewed p.F545L 1.000 155 0% 105 27.6% 0 - possibly_damaging(0.829) deleterious(0) deleterious(0.759) superfamily_vWA-like STRN3 29966 genome.wustl.edu 37 14 31364925 31364925 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001083893.1 -1 validated p.L723V 1.000 106 0% 65 16.9% 1 0% benign(0.202) tolerated(0.16) neutral(0.079) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HECTD1 25831 genome.wustl.edu 37 14 31572204 31572204 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015382.2 -1 validated p.L2490I 1.000 195 0% 165 34.5% 18 11.1% possibly_damaging(0.936) tolerated(0.36) neutral(0.402) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HEATR5A 25938 genome.wustl.edu 37 14 31813268 31813268 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015473.2 -1 validated p.N728S 0.991 75 0% 82 32.9% 1 0% benign(0) tolerated(0.41) neutral(0.015) superfamily_ARM repeat AKAP6 9472 genome.wustl.edu 37 14 32902936 32902936 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004274.4 +1 reviewed p.M79I 1.000 238 0% 260 24.2% 0 - benign(0) deleterious(0) neutral(0.445) NULL AKAP6 9472 genome.wustl.edu 37 14 33204981 33204981 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004274.4 +1 reviewed p.E1089* 1.000 189 0% 157 27.4% 0 - - - - HMMSmart_SM00150,superfamily_Spectrin repeat AKAP6 9472 genome.wustl.edu 37 14 33291257 33291257 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004274.4 +1 reviewed p.F1413C 0.197 190 0% 192 31.8% 0 - benign(0.313) deleterious(0) deleterious(0.542) NULL AKAP6 9472 genome.wustl.edu 37 14 33291725 33291725 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004274.4 +1 reviewed p.E1569A 1.000 347 0% 341 32.8% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL AKAP6 9472 genome.wustl.edu 37 14 33292161 33292161 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004274.4 +1 reviewed p.S1714 0.364 273 0% 267 24.3% 0 - - - - NULL AKAP6 9472 genome.wustl.edu 37 14 33292374 33292374 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004274.4 +1 reviewed p.I1785M 1.000 218 0% 190 33.2% 0 - possibly_damaging(0.843) deleterious(0) deleterious(0.768) NULL NPAS3 64067 genome.wustl.edu 37 14 34029370 34029370 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173159.2 +1 reviewed p.F158C 1.000 162 0% 128 12.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_PAS,HMMPfam_PAS,superfamily_SSF55785 SNX6 58533 genome.wustl.edu 37 14 35078867 35078867 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152233.2 -1 reviewed p.V58I 1.000 138 0% 110 18.2% 4 0% possibly_damaging(0.874) tolerated(0.12) deleterious(0.600) HMMPfam_PX,superfamily_PX domain BAZ1A 11177 genome.wustl.edu 37 14 35243589 35243589 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013448.2 -1 validated p.D981Y 1.000 121 0% 136 25% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SRP54 6729 genome.wustl.edu 37 14 35468785 35468785 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003136.3 +1 validated p.E34* 1.000 109 0% 125 28.8% 3 0% - - - HMMPfam_SRP54_N,superfamily_Domain of the SRP/SRP receptor G-proteins RALGAPA1 253959 genome.wustl.edu 37 14 36018318 36018318 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_194301.2 -1 provisional p.A2034V 0.992 143 0% 132 29.5% 4 0% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL RALGAPA1 253959 genome.wustl.edu 37 14 36143792 36143792 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_194301.2 -1 provisional p.S1077* 0.812 156 0% 128 23.4% 0 - - - - NULL MIPOL1 145282 genome.wustl.edu 37 14 37754622 37754622 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138731.5 +1 validated p.R198Q 0.887 291 0% 246 30.9% 2 100% possibly_damaging(0.679) deleterious(0.04) deleterious(0.591) NULL MIPOL1 145282 genome.wustl.edu 37 14 37777572 37777572 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138731.5 +1 validated p.N226D 1.000 317 0% 403 30.5% 0 - possibly_damaging(0.541) tolerated(0.39) neutral(0.200) NULL TTC6 319089 genome.wustl.edu 37 14 38281591 38281591 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343299.1 +1 model p.R1276S 1.000 229 0% 186 27.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like SSTR1 6751 genome.wustl.edu 37 14 38678956 38678956 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001049.2 +1 reviewed p.R121H 1.000 101 0% 113 32.7% 0 - benign(0.012) tolerated(0.24) neutral(0.038) HMMPfam_7tm_1,superfamily_SSF81321 CLEC14A 161198 genome.wustl.edu 37 14 38724414 38724414 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175060.1 -1 provisional p.E272K 0.964 127 0% 72 29.2% 13 0% probably_damaging(0.959) tolerated(0.57) neutral(0.409) PatternScan_ASX_HYDROXYL,HMMSmart_EGF,PatternScan_EGF_2,superfamily_SSF57196 MIA2 117153 genome.wustl.edu 37 14 39716613 39716613 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_054024.3 +1 validated p.E279* 0.228 143 0% 143 32.2% 0 - - - - NULL CTAGE5 4253 genome.wustl.edu 37 14 39762580 39762580 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005930.3 +1 validated p.E164* 1.000 161 0% 118 37.3% 2 50% - - - NULL FSCB 84075 genome.wustl.edu 37 14 44974450 44974450 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032135.3 -1 validated p.G581C 0.000 78 0% 73 23.3% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL FSCB 84075 genome.wustl.edu 37 14 44975349 44975349 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032135.3 -1 validated p.A281V 0.000 162 0% 117 36.8% 0 - benign(0.001) tolerated(0.31) neutral(0.027) NULL C14orf28 122525 genome.wustl.edu 37 14 45374709 45374709 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001017923.1 +1 validated p.L297I 1.000 188 0% 139 33.1% 0 - benign(0.35) deleterious(0) deleterious(0.555) NULL KLHL28 54813 genome.wustl.edu 37 14 45403496 45403496 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017658.3 -1 validated p.Y389D 1.000 215 0% 238 29% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain FAM179B 23116 genome.wustl.edu 37 14 45521721 45521721 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015091.2 +1 validated p.D1413Y 1.000 103 0% 73 30.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat FANCM 57697 genome.wustl.edu 37 14 45636336 45636336 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020937.2 +1 reviewed p.R658* 0.001 319 0% 235 34% 0 - - - - NULL FANCM 57697 genome.wustl.edu 37 14 45644568 45644568 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020937.2 +1 reviewed p.N871D 0.000 228 0% 178 19.1% 0 - benign(0) tolerated(0.66) neutral(0.003) NULL FANCM 57697 genome.wustl.edu 37 14 45644847 45644847 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020937.2 +1 reviewed p.E964K 0.993 206 0% 163 25.8% 0 - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL FANCM 57697 genome.wustl.edu 37 14 45645051 45645051 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020937.2 +1 reviewed p.D1032Y 0.000 135 0% 107 34.6% 0 - probably_damaging(0.96) deleterious(0.04) deleterious(0.752) NULL FANCM 57697 genome.wustl.edu 37 14 45645544 45645544 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020937.2 +1 reviewed p.R1196H 0.000 207 0% 146 18.5% 0 - possibly_damaging(0.772) deleterious(0.04) deleterious(0.636) NULL FANCM 57697 genome.wustl.edu 37 14 45665613 45665613 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020937.2 +1 reviewed p.R1860H 1.000 338 0% 216 25.9% 4 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ERCC4,superfamily_Restriction endonuclease-like FANCM 57697 genome.wustl.edu 37 14 45667871 45667871 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020937.2 +1 reviewed p.R1914K 1.000 359 0% 274 15% 4 25% probably_damaging(0.996) tolerated(0.08) deleterious(0.762) superfamily_Restriction endonuclease-like MIS18BP1 55320 genome.wustl.edu 37 14 45673405 45673405 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018353.4 -1 validated p.E1102 0.148 192 0% 103 31.1% 2 100% - - - NULL MIS18BP1 55320 genome.wustl.edu 37 14 45711630 45711630 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018353.4 -1 validated p.I250M 0.252 422 0% 364 18.1% 0 - probably_damaging(0.955) deleterious(0.01) deleterious(0.804) NULL MDGA2 161357 genome.wustl.edu 37 14 47342735 47342735 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001113498.1 -1 validated p.L816F 0.979 167 0% 196 28.1% 0 - possibly_damaging(0.562) tolerated(0.09) deleterious(0.488) HMMPfam_MAM,HMMSmart_MAM MDGA2 161357 genome.wustl.edu 37 14 47389308 47389308 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001113498.1 -1 validated p.N646 1.000 113 0% 112 26.8% 0 - - - - NULL MDGA2 161357 genome.wustl.edu 37 14 47566224 47566224 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001113498.1 -1 validated p.S274Y 0.982 324 0% 204 29.9% 0 - benign(0) deleterious(0.02) neutral(0.383) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 NEMF 9147 genome.wustl.edu 37 14 50266244 50266244 + Splice_Site SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004713.3 -1 validated e25-2 1.000 259 0% 245 26.1% 0 - - - - - CDKL1 8814 genome.wustl.edu 37 14 50863904 50863904 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356146 -1 known p.D129G 0.000 30 0% 17 35.3% 0 - - - - NULL MAP4K5 11183 genome.wustl.edu 37 14 50904624 50904624 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006575.3 -1 reviewed p.R604Q 1.000 193 0% 192 34.9% 0 - possibly_damaging(0.876) deleterious(0.01) deleterious(0.747) HMMPfam_CNH,HMMSmart_SM00036 NIN 51199 genome.wustl.edu 37 14 51224265 51224265 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020921.3 -1 reviewed p.S1161 0.864 310 0% 291 29.2% 0 - - - - NULL PYGL 5836 genome.wustl.edu 37 14 51379846 51379846 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002863.4 -1 reviewed p.K507 1.000 58 0% 63 38.1% 0 - - - - HMMPfam_Phosphorylase,superfamily_SSF53756 C14orf166 51637 genome.wustl.edu 37 14 52460480 52460480 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016039.2 +1 validated p.R76* 1.000 76 0% 82 37.8% 27 7.4% - - - HMMPfam_RLL NID2 22795 genome.wustl.edu 37 14 52493932 52493932 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007361.3 -1 validated p.G887 0.996 28 0% 27 29.6% 16 0% - - - HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_EGF/Laminin ERO1L 30001 genome.wustl.edu 37 14 53128011 53128011 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014584.1 -1 provisional p.E230* 1.000 149 0% 129 22.5% 6 0% - - - HMMPfam_ERO1,superfamily_ERO1 ERO1L 30001 genome.wustl.edu 37 14 53133106 53133106 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014584.1 -1 provisional p.E206* 1.000 71 0% 61 13.1% 2 0% - - - HMMPfam_ERO1,superfamily_ERO1 FERMT2 10979 genome.wustl.edu 37 14 53385887 53385887 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134999.1 -1 validated p.F115L 1.000 600 0% 367 26.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_B41 CGRRF1 10668 genome.wustl.edu 37 14 54997759 54997759 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006568.2 +1 validated p.I187M 0.983 115 0% 74 13.5% 0 - benign(0.267) tolerated(0.1) neutral(0.315) NULL SAMD4A 23034 genome.wustl.edu 37 14 55168925 55168925 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015589.4 +1 validated p.E113 0.992 120 0% 122 36.9% 0 - - - - NULL SOCS4 122809 genome.wustl.edu 37 14 55510977 55510977 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080867.2 +1 reviewed p.I406 0.979 96 0% 122 24.6% 0 - - - - HMMPfam_SOCS_box,HMMSmart_SM00253,superfamily_SH2 domain FBXO34 55030 genome.wustl.edu 37 14 55818777 55818777 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017943.3 +1 validated p.D557Y 1.000 271 0% 198 18.7% 10 50% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL KTN1 3895 genome.wustl.edu 37 14 56078857 56078857 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001079521.1 +1 validated p.E31* 1.000 145 0% 124 18.5% 0 - - - - NULL PELI2 57161 genome.wustl.edu 37 14 56757008 56757008 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021255.2 +1 validated p.N177S 1.000 261 0% 208 34.1% 0 - benign(0.043) tolerated(0.65) neutral(0.005) HMMPfam_Pellino EXOC5 10640 genome.wustl.edu 37 14 57698246 57698246 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006544.3 -1 reviewed p.K376Q 1.000 161 0% 165 18.2% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec10 MUDENG 55745 genome.wustl.edu 37 14 57755707 57755707 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NR_026895.1 +1 validated NULL 0.001 65 0% 46 28.3% 6 16.6% - - - - SLC35F4 341880 genome.wustl.edu 37 14 58036680 58036680 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080455.1 -1 provisional p.L354I 1.000 67 0% 45 20% 0 - probably_damaging(0.969) tolerated(0.53) neutral(0.419) NULL SLC35F4 341880 genome.wustl.edu 37 14 58055985 58055985 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080455.1 -1 provisional p.S215Y 1.000 160 0% 126 21.4% 0 - benign(0.359) tolerated(0.3) neutral(0.143) NULL C14orf37 145407 genome.wustl.edu 37 14 58599840 58599840 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001872.2 -1 predicted p.P530H 0.625 172 0% 152 18.4% 0 - probably_damaging(1) tolerated(0.19) deleterious(0.549) NULL C14orf37 145407 genome.wustl.edu 37 14 58599961 58599961 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001872.2 -1 predicted p.D490Y 0.143 192 0% 158 27.2% 0 - possibly_damaging(0.662) deleterious(0.02) deleterious(0.617) NULL KIAA0586 9786 genome.wustl.edu 37 14 58932601 58932601 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014749.3 +1 validated p.K627T 0.001 289 0% 222 30.6% 2 0% benign(0.306) tolerated(0.13) neutral(0.348) NULL DAAM1 23002 genome.wustl.edu 37 14 59819301 59819301 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014992.1 +1 reviewed p.E750K 1.000 80 0% 62 30.6% 0 - possibly_damaging(0.837) tolerated(0.28) neutral(0.351) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) DAAM1 23002 genome.wustl.edu 37 14 59821888 59821888 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014992.1 +1 reviewed p.R798C 1.000 282 0% 290 31.7% 6 33.3% probably_damaging(0.997) tolerated(0.09) deleterious(0.762) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) C14orf39 317761 genome.wustl.edu 37 14 60923639 60923639 + Missense_Mutation SNP C C T rs147627198 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174978.2 -1 validated p.E452K 0.984 835 0% 586 31.2% 0 - benign(0.224) deleterious(0.03) neutral(0.387) NULL C14orf39 317761 genome.wustl.edu 37 14 60933665 60933665 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174978.2 -1 validated p.K289Q 0.046 128 0% 83 24.1% 0 - possibly_damaging(0.45) tolerated(0.63) neutral(0.151) NULL SLC38A6 145389 genome.wustl.edu 37 14 61512100 61512100 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153811.2 +1 validated p.L261I 1.000 282 0% 132 30.3% 3 66.6% possibly_damaging(0.896) tolerated(0.13) deleterious(0.606) HMMPfam_Aa_trans PRKCH 5583 genome.wustl.edu 37 14 61919967 61919967 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006255.3 +1 reviewed p.R286* 0.998 233 0% 203 32% 11 9% - - - HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain HIF1A 3091 genome.wustl.edu 37 14 62200959 62200959 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001530.3 +1 validated p.K328N 1.000 133 0% 172 30.2% 24 54.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00086,HMMPfam_PAS_3,superfamily_PYP-like sensor domain (PAS domain) HIF1A 3091 genome.wustl.edu 37 14 62207710 62207710 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001530.3 +1 validated p.E633K 0.992 186 0% 214 23.4% 58 24.1% benign(0.03) tolerated(0.16) neutral(0.061) NULL SYT16 83851 genome.wustl.edu 37 14 62541887 62541887 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031914.2 +1 validated p.E257D 0.907 104 0% 149 28.9% 0 - possibly_damaging(0.753) tolerated(0.21) neutral(0.321) NULL SYT16 83851 genome.wustl.edu 37 14 62542084 62542084 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031914.2 +1 validated p.D323G 1.000 326 0% 474 24.9% 0 - benign(0.035) tolerated(0.29) neutral(0.031) NULL SYNE2 23224 genome.wustl.edu 37 14 64408437 64408437 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182914.2 +1 reviewed p.D56N 1.000 410 0% 241 22% 0 - probably_damaging(0.999) - - HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology SYNE2 23224 genome.wustl.edu 37 14 64434459 64434459 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182914.2 +1 reviewed p.E341D 1.000 151 0% 90 33.3% 0 - probably_damaging(0.979) - - superfamily_Spectrin SYNE2 23224 genome.wustl.edu 37 14 64467362 64467362 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182914.2 +1 reviewed p.K1188T 0.274 225 0% 165 29.1% 1 0% possibly_damaging(0.918) - - NULL SYNE2 23224 genome.wustl.edu 37 14 64518377 64518377 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182914.2 +1 reviewed p.E2582D 0.031 187 0% 126 34.1% 0 - benign(0.047) - - NULL SYNE2 23224 genome.wustl.edu 37 14 64518804 64518804 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182914.2 +1 reviewed p.N2725H 0.096 394 0% 301 25.9% 0 - probably_damaging(0.999) - - NULL SYNE2 23224 genome.wustl.edu 37 14 64519707 64519707 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182914.2 +1 reviewed p.E3026* 0.793 321 0% 250 33.6% 0 - - - - NULL SYNE2 23224 genome.wustl.edu 37 14 64520040 64520040 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182914.2 +1 reviewed p.L3137I 0.978 203 0% 156 23.7% 0 - probably_damaging(0.995) - - NULL SYNE2 23224 genome.wustl.edu 37 14 64529480 64529480 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182914.2 +1 reviewed p.N3360T 0.110 59 0% 49 28.6% 0 - probably_damaging(0.998) - - superfamily_4_helix_cytokine,superfamily_Spectrin SYNE2 23224 genome.wustl.edu 37 14 64545241 64545241 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182914.2 +1 reviewed p.E3694* 0.999 176 0% 122 37.7% 0 - - - - HMMSmart_SPEC SYNE2 23224 genome.wustl.edu 37 14 64608684 64608684 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182914.2 +1 reviewed p.R5062C 1.000 98 0% 69 39.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SPEC ZBTB25 7597 genome.wustl.edu 37 14 64954122 64954122 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006977.2 -1 validated p.S276N 1.000 128 0% 183 22.4% 4 25% probably_damaging(0.955) deleterious(0.02) deleterious(0.782) NULL SPTB 6710 genome.wustl.edu 37 14 65234558 65234558 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001024858.2 -1 reviewed p.F2014L 1.000 68 0% 71 31% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin SPTB 6710 genome.wustl.edu 37 14 65241861 65241861 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001024858.2 -1 reviewed p.I1608 0.999 81 0% 93 10.8% 0 - - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin SPTB 6710 genome.wustl.edu 37 14 65260352 65260352 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001024858.2 -1 reviewed p.R677C 1.000 65 0% 61 39.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin FUT8 2530 genome.wustl.edu 37 14 66136003 66136003 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178154.1 +1 reviewed p.I214V 1.000 155 0% 152 27% 13 30.7% benign(0.203) deleterious(0.01) neutral(0.425) NULL FUT8 2530 genome.wustl.edu 37 14 66208947 66208947 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178154.1 +1 reviewed p.R516Q 1.000 321 0% 411 24.6% 14 28.5% benign(0.016) tolerated(0.2) neutral(0.050) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain ARG2 384 genome.wustl.edu 37 14 68113381 68113381 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001172.3 +1 reviewed p.F181L 1.000 156 0% 136 20.6% 14 21.4% benign(0.07) deleterious(0.04) neutral(0.354) HMMPfam_Arginase,superfamily_Arginase/deacetylase ZFYVE26 23503 genome.wustl.edu 37 14 68248193 68248193 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015346.3 -1 reviewed p.R1476W 0.784 181 0% 214 20.1% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL ZFYVE26 23503 genome.wustl.edu 37 14 68252856 68252856 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015346.3 -1 reviewed p.L1038 0.021 133 0% 123 24.4% 0 - - - - NULL SLC39A9 55334 genome.wustl.edu 37 14 69922507 69922507 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018375.3 +1 validated p.R206Q 1.000 281 0% 262 24.4% 5 0% probably_damaging(0.997) tolerated(0.47) deleterious(0.477) HMMPfam_Zip ADAM20 8748 genome.wustl.edu 37 14 70989351 70989351 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003814.4 -1 reviewed p.F758L 0.000 460 0% 365 29.6% 0 - benign(0.094) tolerated(0.7) neutral(0.009) NULL PCNX 22990 genome.wustl.edu 37 14 71434938 71434938 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014982.2 +1 validated p.L164 1.000 103 0% 93 23.7% 0 - - - - NULL PCNX 22990 genome.wustl.edu 37 14 71444805 71444805 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014982.2 +1 validated p.R584Q 1.000 291 0% 257 37% 0 - unknown(0) tolerated(0.14) - NULL SIPA1L1 26037 genome.wustl.edu 37 14 72176044 72176044 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015556.1 +1 provisional p.E1312K 1.000 120 0% 61 32.8% 28 42.8% benign(0.334) deleterious(0.02) deleterious(0.488) NULL DPF3 8110 genome.wustl.edu 37 14 73190363 73190363 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012074.3 -1 provisional p.R168Q 0.996 186 0% 193 21.8% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL DCAF4 26094 genome.wustl.edu 37 14 73418569 73418569 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015604.3 +1 reviewed p.F264 0.971 258 0% 265 20.8% 3 33.3% - - - superfamily_WD40 repeat-like ZFYVE1 53349 genome.wustl.edu 37 14 73444742 73444742 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021260.1 -1 reviewed p.E510* 1.000 190 0% 216 34.7% 4 0% - - - NULL RBM25 58517 genome.wustl.edu 37 14 73578383 73578383 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021239.2 +1 validated p.K722T 1.000 332 0% 349 24.9% 12 41.6% unknown(0) tolerated(0.05) - NULL PSEN1 5663 genome.wustl.edu 37 14 73683937 73683937 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000021.3 +1 reviewed p.F411 1.000 165 0% 172 29.7% 29 37.9% - - - HMMPfam_Presenilin,HMMSmart_SM00730 HEATR4 399671 genome.wustl.edu 37 14 73967349 73967349 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203309.1 -1 provisional p.L684I 1.000 136 0% 123 17.9% 1 0% probably_damaging(0.991) tolerated(0.44) neutral(0.457) superfamily_ARM-type_fold PNMA1 9240 genome.wustl.edu 37 14 74179578 74179578 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006029.4 -1 validated p.Q255 1.000 81 0% 109 34.9% 5 40% - - - NULL ZNF410 57862 genome.wustl.edu 37 14 74363198 74363198 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021188.1 +1 provisional p.D117N 1.000 255 0% 211 29.4% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FAM161B 145483 genome.wustl.edu 37 14 74413187 74413187 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152445.1 -1 predicted p.S59Y 0.974 231 0% 308 26.6% 1 0% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL ALDH6A1 4329 genome.wustl.edu 37 14 74527415 74527415 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005589.2 -1 reviewed p.T513N 1.000 139 0% 178 23.6% 21 28.5% probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_ALDH-like PROX2 283571 genome.wustl.edu 37 14 75330052 75330052 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080408.1 -1 provisional p.G162 0.000 47 0% 63 27% 0 - - - - NULL MLH3 27030 genome.wustl.edu 37 14 75513214 75513214 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040108.1 -1 reviewed p.D1049N 1.000 198 0% 184 28.3% 5 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MLH3 27030 genome.wustl.edu 37 14 75514123 75514123 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040108.1 -1 reviewed p.S746R 0.999 188 0% 199 37.2% 0 - unknown(0) deleterious(0) - NULL MLH3 27030 genome.wustl.edu 37 14 75515064 75515064 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040108.1 -1 reviewed p.R432I 0.002 168 0% 113 23.9% 0 - unknown(0) deleterious(0.01) - NULL TTLL5 23093 genome.wustl.edu 37 14 76175560 76175560 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000286650 +1 known p.R260I 0.000 104 0% 82 26.8% 0 - benign(0.001) - - NULL TTLL5 23093 genome.wustl.edu 37 14 76211887 76211887 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015072.4 +1 reviewed p.R484C 1.000 269 0% 251 27.9% 8 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TTLL5 23093 genome.wustl.edu 37 14 76232669 76232669 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015072.4 +1 reviewed p.K658T 0.984 239 0% 234 27.4% 1 100% benign(0.001) deleterious(0.01) neutral(0.406) NULL IFT43 112752 genome.wustl.edu 37 14 76549621 76549621 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052873.2 +1 validated p.E171K 1.000 48 0% 57 31.6% 151 33.1% probably_damaging(0.998) tolerated(0.39) deleterious(0.490) NULL C14orf118 55668 genome.wustl.edu 37 14 76638294 76638294 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017926.2 +1 validated p.R279I 1.000 366 0% 304 26.6% 1 0% probably_damaging(0.959) tolerated(0.12) deleterious(0.663) NULL KIAA1737 85457 genome.wustl.edu 37 14 77580019 77580019 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033426.2 +1 validated p.K186N 1.000 97 0% 99 31.3% 1 0% probably_damaging(0.996) tolerated(0.38) deleterious(0.479) NULL ZDHHC22 283576 genome.wustl.edu 37 14 77600059 77600059 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174976.2 -1 validated p.V253 0.679 32 0% 34 38.2% 0 - - - - NULL TMEM63C 57156 genome.wustl.edu 37 14 77722982 77722982 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020431.2 +1 validated p.E778D 0.998 73 0% 89 23.6% 0 - benign(0.008) tolerated(0.16) neutral(0.059) NULL C14orf133 63894 genome.wustl.edu 37 14 77893973 77893973 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022067.2 -1 provisional p.R490* 1.000 90 0% 134 31.3% 20 25% - - - HMMPfam_Golgin_A5 ISM2 145501 genome.wustl.edu 37 14 77942073 77942073 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_199296.2 -1 reviewed p.T527 0.971 72 0% 46 32.6% 0 - - - - HMMPfam_AMOP,HMMSmart_SM00723 CEP128 145508 genome.wustl.edu 37 14 81362124 81362124 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152446.3 -1 validated p.E195K 0.935 65 0% 37 18.9% 1 100% possibly_damaging(0.875) tolerated(0.07) deleterious(0.659) NULL CEP128 145508 genome.wustl.edu 37 14 81371200 81371200 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152446.3 -1 validated p.R146I 0.962 378 0% 335 23.3% 0 - possibly_damaging(0.901) tolerated(0.05) deleterious(0.702) NULL TSHR 7253 genome.wustl.edu 37 14 81528515 81528515 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000369.2 +1 reviewed p.R65K 1.000 164 0% 145 24.1% 0 - - - - superfamily_L domain-like GTF2A1 2957 genome.wustl.edu 37 14 81658902 81658902 + Missense_Mutation SNP G G C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015859.2 -1 validated p.D298E 0.996 444 0% 454 25.1% 3 100% benign(0) tolerated(0.49) neutral(0.011) HMMPfam_TFIIA SEL1L 6400 genome.wustl.edu 37 14 81950663 81950663 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005065.4 -1 validated p.F651C 0.999 498 0% 397 34.3% 3 66.6% possibly_damaging(0.658) tolerated(0.1) deleterious(0.519) HMMPfam_Sel1,HMMSmart_SM00671,superfamily_HCP-like FLRT2 23768 genome.wustl.edu 37 14 86088580 86088580 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013231.4 +1 reviewed p.S241L 1.000 252 0% 191 23.6% 0 - probably_damaging(0.976) tolerated(0.08) deleterious(0.718) superfamily_SSF52058 GPR65 8477 genome.wustl.edu 37 14 88477483 88477483 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003608.3 +1 validated p.F98V 0.997 421 0% 575 30.6% 4 0% possibly_damaging(0.903) tolerated(0.08) deleterious(0.658) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SPATA7 55812 genome.wustl.edu 37 14 88903906 88903906 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018418.4 +1 reviewed p.E394K 1.000 350 0.3% 288 12.5% 1 0% possibly_damaging(0.542) deleterious(0.02) deleterious(0.567) NULL ZC3H14 79882 genome.wustl.edu 37 14 89038542 89038542 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024824.4 +1 validated p.S135L 1.000 124 0% 110 22.7% 1 0% probably_damaging(0.963) deleterious(0.03) deleterious(0.770) NULL EML5 161436 genome.wustl.edu 37 14 89171223 89171223 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_183387.2 -1 validated p.R678* 0.997 193 0% 180 30.6% 0 - - - - HMMPfam_HELP EML5 161436 genome.wustl.edu 37 14 89181321 89181321 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_183387.2 -1 validated p.N469T 1.000 237 0% 209 25.4% 0 - possibly_damaging(0.521) tolerated(0.39) neutral(0.192) HMMSmart_SM00320,superfamily_WD40 repeat-like EML5 161436 genome.wustl.edu 37 14 89210416 89210416 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_183387.2 -1 validated p.D159G 1.000 37 0% 21 33.3% 0 - possibly_damaging(0.804) tolerated(0.11) deleterious(0.574) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40 FOXN3 1112 genome.wustl.edu 37 14 89629008 89629008 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001085471.1 -1 reviewed p.S408Y 0.986 96 0% 109 35.8% 1 0% possibly_damaging(0.64) deleterious(0.03) deleterious(0.589) NULL TTC7B 145567 genome.wustl.edu 37 14 91196530 91196530 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010854.1 -1 provisional p.S196Y 1.000 333 0% 293 34.1% 0 - possibly_damaging(0.455) deleterious(0.01) deleterious(0.554) superfamily_TPR-like SMEK1 55671 genome.wustl.edu 37 14 91948214 91948214 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032560.4 -1 validated p.L207 1.000 151 0% 157 28.7% 3 33.3% - - - HMMPfam_DUF625,superfamily_ARM-type_fold CATSPERB 79820 genome.wustl.edu 37 14 92195816 92195816 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024764.2 -1 validated p.S3L 0.000 84 0% 69 33.3% 0 - benign(0) tolerated(0.87) neutral(0.001) NULL TRIP11 9321 genome.wustl.edu 37 14 92480613 92480613 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004239.3 -1 reviewed p.L378I 0.000 148 0% 176 25% 1 0% benign(0.012) tolerated(0.29) neutral(0.030) NULL CPSF2 53981 genome.wustl.edu 37 14 92622941 92622941 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017437.1 +1 validated p.K521Q 1.000 210 0% 186 34.9% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC24A4 123041 genome.wustl.edu 37 14 92792305 92792305 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153646.2 +1 validated p.K58R 1.000 42 0% 42 26.2% 0 - benign(0.02) tolerated(0.22) neutral(0.043) NULL COX8C 341947 genome.wustl.edu 37 14 93814374 93814374 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182971.2 +1 validated p.E43* 0.995 84 0% 94 26.6% 0 - - - - HMMPfam_COX8,superfamily_Cyt_c_oxidase_8 UNC79 57578 genome.wustl.edu 37 14 94044389 94044389 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020818.3 +1 validated p.F628L 1.000 198 0% 146 28.8% 0 - possibly_damaging(0.94) tolerated(1) neutral(0.385) NULL UNC79 57578 genome.wustl.edu 37 14 94097188 94097188 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020818.3 +1 validated p.E1707* 1.000 190 0% 181 30.4% 0 - - - - NULL UNC79 57578 genome.wustl.edu 37 14 94156635 94156635 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020818.3 +1 validated p.P2282S 1.000 238 0% 184 34.8% 0 - benign(0) tolerated(0.2) neutral(0.049) NULL PRIMA1 145270 genome.wustl.edu 37 14 94187876 94187876 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178013.3 -1 reviewed p.D126Y 0.997 23 0% 32 34.4% 0 - benign(0.076) deleterious(0) neutral(0.450) NULL DDX24 57062 genome.wustl.edu 37 14 94521359 94521359 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020414.3 -1 reviewed p.Y721D 1.000 449 0% 443 25.5% 99 44.4% benign(0.039) tolerated(0.07) neutral(0.321) superfamily_SSF52540 SERPINA12 145264 genome.wustl.edu 37 14 94964291 94964291 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173850.2 -1 provisional p.R148 0.000 213 0% 257 27.2% 0 - - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINA4 5267 genome.wustl.edu 37 14 95035828 95035828 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006215.2 +1 provisional p.R394C 0.000 65 0% 59 32.2% 19 42.1% probably_damaging(0.99) deleterious(0.04) deleterious(0.790) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINA3 12 genome.wustl.edu 37 14 95088736 95088736 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001085.4 +1 reviewed p.D326N 0.000 81 0% 85 30.6% 222 20.7% benign(0) tolerated(0.33) neutral(0.024) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins DICER1 23405 genome.wustl.edu 37 14 95574305 95574305 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030621.3 -1 reviewed p.F854L 1.000 92 0% 105 34.3% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL CLMN 79789 genome.wustl.edu 37 14 95662971 95662971 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024734.3 -1 validated p.E858* 0.003 99 0% 96 18.8% 3 0% - - - NULL C14orf49 161176 genome.wustl.edu 37 14 95912351 95912351 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152592.3 -1 validated p.I509 0.815 100 0% 103 24.3% 0 - - - - superfamily_Spectrin repeat ATG2B 55102 genome.wustl.edu 37 14 96800138 96800138 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018036.5 -1 validated p.R365Q 1.000 174 0% 139 29.5% 0 - probably_damaging(0.985) tolerated(0.33) neutral(0.456) NULL AK7 122481 genome.wustl.edu 37 14 96949408 96949408 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152327.2 +1 validated p.R609Q 0.995 154 0% 138 35.5% 9 55.5% benign(0.352) deleterious(0.03) deleterious(0.476) superfamily_P-loop containing nucleoside triphosphate hydrolases VRK1 7443 genome.wustl.edu 37 14 97299913 97299913 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003384.2 +1 reviewed p.K35N 0.996 337 0% 298 24.2% 10 50% benign(0.014) tolerated(0.25) neutral(0.037) superfamily_Kinase_like CYP46A1 10858 genome.wustl.edu 37 14 100157461 100157461 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006668.1 +1 reviewed p.V55I 1.000 70 0% 86 18.6% 0 - benign(0.017) tolerated(0.48) neutral(0.011) HMMPfam_p450,superfamily_Cytochrome_P450 EML1 2009 genome.wustl.edu 37 14 100404179 100404179 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008707.1 +1 reviewed p.V726 0.863 55 0% 69 26.1% 1 0% - - - NULL MIR370 442915 genome.wustl.edu 37 14 101377483 101377483 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000362135 +1 known NULL 0.997 46 0% 60 28.3% 0 - - - - - MIR544A 664613 genome.wustl.edu 37 14 101515048 101515048 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000384855 +1 known NULL 1.000 46 0% 46 28.3% 0 - - - - - MIR485 574436 genome.wustl.edu 37 14 101521821 101521821 + RNA SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000385292 +1 known NULL 1.000 49 0% 44 27.3% 0 - - - - - DIO3 1735 genome.wustl.edu 37 14 102028328 102028328 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001362.3 +1 reviewed p.F139 1.000 23 0% 33 15.2% 0 - - - - HMMPfam_T4_deiodinase DYNC1H1 1778 genome.wustl.edu 37 14 102442081 102442081 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001376.4 +1 reviewed p.E97* 1.000 140 0% 130 13.8% 1 100% - - - NULL DYNC1H1 1778 genome.wustl.edu 37 14 102449796 102449796 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001376.4 +1 reviewed p.I437 0.679 105 0% 111 24.3% 0 - - - - HMMPfam_DHC_N1 DYNC1H1 1778 genome.wustl.edu 37 14 102502868 102502868 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001376.4 +1 reviewed p.F3599L 1.000 164 0% 108 26.9% 12 66.6% possibly_damaging(0.434) deleterious(0) deleterious(0.586) NULL RCOR1 23186 genome.wustl.edu 37 14 103188616 103188616 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015156.2 +1 validated p.R425* 1.000 268 0.4% 229 29.7% 2 0% - - - HMMSmart_SANT,superfamily_Homeodomain_like,HMMPfam_Myb_DNA-binding CDC42BPB 9578 genome.wustl.edu 37 14 103429464 103429464 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006035.3 -1 reviewed p.R919 1.000 92 0% 44 13.6% 1 0% - - - HMMPfam_DMPK_coil MARK3 4140 genome.wustl.edu 37 14 103918266 103918266 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001128918.1 +1 validated p.E120K 1.000 384 0% 306 25.8% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TDRD9 122402 genome.wustl.edu 37 14 104474793 104474793 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153046.2 +1 validated p.R699I 1.000 299 0% 235 27.7% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL PLD4 122618 genome.wustl.edu 37 14 105397117 105397117 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138790.2 +1 validated p.H252 1.000 33 6.1% 23 39.1% 5 0% - - - HMMPfam_PLD_envelope,superfamily_SSF56024 AHNAK2 113146 genome.wustl.edu 37 14 105405818 105405818 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138420.2 -1 validated p.E5324* 0.002 46 0% 31 35.5% 1 0% - - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105407698 105407698 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138420.2 -1 validated p.S4697L 0.000 46 0% 27 33.3% 0 - probably_damaging(0.969) tolerated(0.73) neutral(0.413) NULL AHNAK2 113146 genome.wustl.edu 37 14 105408573 105408573 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138420.2 -1 validated p.V4405 0.001 80 0% 75 32% 1 0% - - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105409300 105409300 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138420.2 -1 validated p.A4163V 0.000 72 0% 71 31% 2 0% benign(0.03) tolerated(0.2) neutral(0.051) NULL AHNAK2 113146 genome.wustl.edu 37 14 105419666 105419666 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138420.2 -1 validated p.D708N 0.792 71 0% 78 32.1% 1 100% possibly_damaging(0.922) tolerated(0.05) deleterious(0.717) NULL C14orf79 122616 genome.wustl.edu 37 14 105455297 105455297 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174891.3 +1 validated p.E147D 0.464 46 0% 39 25.6% 16 31.2% probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL IGHG1 3500 genome.wustl.edu 37 14 106208474 106208474 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000390548 -1 known p.V142 0.984 226 0% 236 27.5% 5844 0% - - - HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin IGHV3-49 28423 genome.wustl.edu 37 14 107013357 107013357 + Nonsense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000390625 -1 known p.L14* 0.001 504 0% 425 28% 0 - - - - NULL LOC727924 727924 genome.wustl.edu 37 15 22332448 22332448 + RNA SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NR_015416.1 +1 predicted NULL 1.000 367 0% 365 23.6% 0 - - - - - TUBGCP5 114791 genome.wustl.edu 37 15 22836066 22836066 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001102610.1 +1 validated p.I68 0.992 121 0% 125 24% 0 - - - - NULL GOLGA8IP 283796 genome.wustl.edu 37 15 23265552 23265552 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000450802 +1 known p.R632I 0.492 170 0% 171 22.2% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ENSG00000140181 0 genome.wustl.edu 37 15 23299970 23299970 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000454333 -1 known p.I102 0.984 122 0% 86 29.1% 11 18.1% - - - NULL ENSG00000140181 0 genome.wustl.edu 37 15 23303809 23303809 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000454333 -1 known p.L35R 1.000 1008 0% 788 13.2% 10 50% - - - NULL HERC2P2 400322 genome.wustl.edu 37 15 23330484 23330484 + RNA SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NR_002824.3 -1 validated NULL 1.000 161 0% 151 11.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) - LOC283685 283685 genome.wustl.edu 37 15 23690482 23690482 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343322.1 -1 model p.S63L 0.059 12 0% 17 41.2% 0 - possibly_damaging(0.916) deleterious(0.01) deleterious(0.772) NULL MKRN3 7681 genome.wustl.edu 37 15 23812084 23812084 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005664.3 +1 reviewed p.Q385H 1.000 91 0% 96 18.8% 0 - probably_damaging(0.961) tolerated(0.06) deleterious(0.727) superfamily_SSF57850 SNORD116-4 100033416 genome.wustl.edu 37 15 25304758 25304758 + RNA SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NR_003319.1 +1 provisional NULL 0.009 173 0% 206 25.7% 0 - - - - - UBE3A 7337 genome.wustl.edu 37 15 25615773 25615773 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000462.2 -1 reviewed p.L519F 0.995 241 0% 175 25.1% 13 23% possibly_damaging(0.691) tolerated(0.09) deleterious(0.544) NULL UBE3A 7337 genome.wustl.edu 37 15 25616254 25616254 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000462.2 -1 reviewed p.R359L 1.000 198 0% 156 16.7% 4 50% benign(0.192) tolerated(0.29) neutral(0.047) NULL ATP10A 57194 genome.wustl.edu 37 15 25953415 25953415 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024490.3 -1 reviewed p.R793W 0.005 59 0% 49 69.4% 1 100% probably_damaging(0.989) tolerated(0.11) deleterious(0.711) superfamily_SSF56784,superfamily_SSF81660 GABRG3 2567 genome.wustl.edu 37 15 27772697 27772697 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000426363 +1 known p.S137L 0.993 72 0% 70 44.3% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore OCA2 4948 genome.wustl.edu 37 15 28263546 28263546 + Missense_Mutation SNP C C G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000275.2 -1 reviewed p.Q268H 0.964 53 0% 25 36% 0 - possibly_damaging(0.922) deleterious(0.01) deleterious(0.777) NULL HERC2 8924 genome.wustl.edu 37 15 28414721 28414721 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004667.4 -1 reviewed p.L3380F 1.000 308 0% 191 22.5% 0 - possibly_damaging(0.929) deleterious(0) deleterious(0.821) NULL HERC2 8924 genome.wustl.edu 37 15 28473507 28473507 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004667.4 -1 reviewed p.G1774E 1.000 66 0% 70 42.9% 0 - probably_damaging(0.992) tolerated(0.2) deleterious(0.496) NULL LOC653720 653720 genome.wustl.edu 37 15 28947104 28947104 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001724258.2 -1 model p.R632I 0.010 213 0% 190 8.9% 0 - - - - NULL APBA2 321 genome.wustl.edu 37 15 29346703 29346703 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005503.3 +1 reviewed p.G206S 0.001 21 0% 47 34% 2 0% benign(0) tolerated(0.65) neutral(0.003) NULL ENSG00000103832 0 genome.wustl.edu 37 15 31093844 31093844 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000220188 +1 known p.K437T 0.298 33 0% 41 31.7% 0 - - - - NULL FAN1 22909 genome.wustl.edu 37 15 31197563 31197563 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014967.4 +1 reviewed p.G233R 0.000 53 0% 65 30.8% 0 - benign(0.429) deleterious(0.04) deleterious(0.488) NULL MTMR10 54893 genome.wustl.edu 37 15 31266654 31266654 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017762.2 -1 validated p.D113N 1.000 67 0% 43 25.6% 0 - probably_damaging(0.996) tolerated(0.1) deleterious(0.748) superfamily_PH domain-like TRPM1 4308 genome.wustl.edu 37 15 31294303 31294303 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002420.4 -1 reviewed p.A1512T 0.000 688 0.1% 543 29.3% 0 - benign(0) deleterious(0.05) neutral(0.345) NULL TRPM1 4308 genome.wustl.edu 37 15 31327797 31327797 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002420.4 -1 reviewed p.W862* 1.000 99 0% 65 16.9% 0 - - - - NULL RYR3 6263 genome.wustl.edu 37 15 33855113 33855113 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001036.3 +1 validated p.D350Y 1.000 242 0% 253 23.3% 0 - probably_damaging(1) - - HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 RYR3 6263 genome.wustl.edu 37 15 33872331 33872331 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001036.3 +1 validated p.L475I 1.000 83 0% 88 25% 0 - probably_damaging(0.971) - - HMMPfam_RYDR_ITPR RYR3 6263 genome.wustl.edu 37 15 33876639 33876639 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001036.3 +1 validated p.S539 1.000 51 0% 51 13.7% 0 - - - - HMMPfam_RYDR_ITPR RYR3 6263 genome.wustl.edu 37 15 33895473 33895473 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001036.3 +1 validated p.A691V 1.000 227 0% 174 28.7% 0 - probably_damaging(0.99) - - HMMPfam_SPRY,HMMSmart_SM00449 RYR3 6263 genome.wustl.edu 37 15 33938641 33938641 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001036.3 +1 validated p.M1285I 1.000 220 0% 193 21.8% 0 - possibly_damaging(0.794) - - NULL RYR3 6263 genome.wustl.edu 37 15 33988607 33988607 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001036.3 +1 validated p.L2017M 1.000 115 0% 120 27.5% 0 - probably_damaging(1) - - NULL RYR3 6263 genome.wustl.edu 37 15 33991959 33991959 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001036.3 +1 validated p.R2102* 1.000 46 0% 29 34.5% 0 - - - - HMMPfam_RYDR_ITPR RYR3 6263 genome.wustl.edu 37 15 34047373 34047373 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001036.3 +1 validated p.A2836V 0.998 60 0% 32 21.9% 0 - benign(0.425) - - NULL C15orf55 256646 genome.wustl.edu 37 15 34646776 34646776 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175741.1 +1 validated p.I374T 1.000 142 0% 87 20.7% 0 - benign(0.001) deleterious(0) neutral(0.445) NULL ZNF770 54989 genome.wustl.edu 37 15 35275290 35275290 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014106.2 -1 validated p.R116 1.000 105 0% 99 36.4% 7 71.4% - - - NULL C15orf54 400360 genome.wustl.edu 37 15 39544401 39544401 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207445.2 +1 validated p.R22I 0.243 612 0% 686 30.3% 0 - unknown(0) - - NULL FSIP1 161835 genome.wustl.edu 37 15 39910127 39910127 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152597.4 -1 validated p.N503S 0.031 502 0% 386 16.6% 0 - possibly_damaging(0.868) deleterious(0) deleterious(0.782) NULL EIF2AK4 440275 genome.wustl.edu 37 15 40269025 40269025 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013703.2 +1 validated p.G743 0.000 20 0% 31 32.3% 4 25% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PLCB2 5330 genome.wustl.edu 37 15 40591348 40591348 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004573.2 -1 validated p.D222Y 0.995 63 0% 98 21.4% 2 0% benign(0.125) tolerated(0.06) neutral(0.333) HMMPfam_efhand_like,superfamily_EF-hand DISP2 85455 genome.wustl.edu 37 15 40661343 40661343 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033510.1 +1 reviewed p.L1010 0.001 40 0% 41 24.4% 0 - - - - superfamily_SSF82866 ENSG00000246741 0 genome.wustl.edu 37 15 40849324 40849324 + RNA SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000501408 +1 known NULL 0.000 59 0% 80 33.8% 0 - - - - - MGA 23269 genome.wustl.edu 37 15 41988793 41988793 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080541.2 +1 validated p.G529C 0.979 213 0% 224 25% 0 - benign(0.269) deleterious(0.01) neutral(0.434) NULL MGA 23269 genome.wustl.edu 37 15 42028504 42028504 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080541.2 +1 validated p.R1348W 1.000 171 0% 174 32.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MGA 23269 genome.wustl.edu 37 15 42041835 42041835 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080541.2 +1 validated p.Q2059H 0.812 214 0% 230 20% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL MGA 23269 genome.wustl.edu 37 15 42042415 42042415 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080541.2 +1 validated p.E2253* 0.008 202 0% 262 26.7% 0 - - - - NULL SPTBN5 51332 genome.wustl.edu 37 15 42178542 42178542 + Missense_Mutation SNP G G C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016642.2 -1 validated p.T269R 0.997 10 0% 15 40% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) superfamily_Spectrin repeat TMEM87A 25963 genome.wustl.edu 37 15 42520982 42520982 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015497.3 -1 validated p.K390Q 1.000 272 0% 199 33.2% 20 45% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMPfam_Lung_7-TM_R GANC 2595 genome.wustl.edu 37 15 42632940 42632940 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198141.2 +1 reviewed p.E714* 1.000 147 0% 119 24.4% 0 - - - - HMMPfam_Glyco_hydro_31 CAPN3 825 genome.wustl.edu 37 15 42678425 42678425 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000070.2 +1 reviewed p.R147Q 1.000 102 0% 94 29.8% 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases ZFP106 64397 genome.wustl.edu 37 15 42730815 42730815 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022473.1 -1 provisional p.S1509Y 1.000 69 0% 50 22% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SNAP23 8773 genome.wustl.edu 37 15 42820618 42820618 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003825.2 +1 reviewed p.R142H 1.000 98 0% 45 37.8% 12 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_SM00397,HMMPfam_SNAP-25 TTBK2 146057 genome.wustl.edu 37 15 43067613 43067613 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173500.3 -1 reviewed p.K573T 1.000 283 0% 341 25.8% 0 - benign(0.129) deleterious(0) neutral(0.456) NULL UBR1 197131 genome.wustl.edu 37 15 43277128 43277128 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174916.2 -1 reviewed p.G1337E 1.000 309 0% 350 20.9% 0 - benign(0) tolerated(0.21) neutral(0.044) NULL UBR1 197131 genome.wustl.edu 37 15 43328743 43328743 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174916.2 -1 reviewed p.D691Y 1.000 114 0% 119 21.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBR1 197131 genome.wustl.edu 37 15 43340621 43340621 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174916.2 -1 reviewed p.R503Q 1.000 147 0% 128 32% 0 - benign(0.133) tolerated(0.57) neutral(0.017) NULL TMEM62 80021 genome.wustl.edu 37 15 43452969 43452969 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024956.3 +1 provisional p.L425I 1.000 189 0% 164 20.7% 9 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAP1A 4130 genome.wustl.edu 37 15 43814314 43814314 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002373.5 +1 reviewed p.L215I 1.000 61 0% 70 21.4% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL MAP1A 4130 genome.wustl.edu 37 15 43814480 43814480 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002373.5 +1 reviewed p.N270S 1.000 57 0% 62 27.4% 0 - probably_damaging(0.998) tolerated(0.19) deleterious(0.524) NULL MAP1A 4130 genome.wustl.edu 37 15 43815532 43815532 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002373.5 +1 reviewed p.D621Y 0.821 44 0% 60 23.3% 0 - possibly_damaging(0.908) deleterious(0) deleterious(0.806) NULL MAP1A 4130 genome.wustl.edu 37 15 43818851 43818851 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002373.5 +1 reviewed p.S1727N 1.000 77 0% 89 34.8% 0 - possibly_damaging(0.907) deleterious(0) deleterious(0.805) NULL PPIP5K1 9677 genome.wustl.edu 37 15 43826986 43826986 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130858.1 -1 validated p.E1396D 0.038 150 0% 134 32.8% 3 0% benign(0.04) deleterious(0.03) neutral(0.367) NULL CATSPER2 117155 genome.wustl.edu 37 15 43928011 43928011 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_172095.1 -1 reviewed p.Q345H 1.000 84 0% 98 35.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Voltage-gated potassium channels ELL3 80237 genome.wustl.edu 37 15 44068065 44068065 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025165.2 -1 validated p.W113L 1.000 91 0% 83 27.7% 0 - probably_damaging(0.995) tolerated(0.08) deleterious(0.758) HMMPfam_ELL SPG11 80208 genome.wustl.edu 37 15 44944435 44944435 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025137.3 -1 reviewed p.R300I 0.997 125 0% 96 27.1% 0 - possibly_damaging(0.532) tolerated(0.17) neutral(0.239) NULL TRIM69 140691 genome.wustl.edu 37 15 45059668 45059668 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182985.3 +1 reviewed p.R401W 0.997 445 0% 402 23.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SPRY,HMMSmart_SM00449 DUOX2 50506 genome.wustl.edu 37 15 45391589 45391589 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014080.4 -1 reviewed p.V1169 0.159 31 0% 27 29.6% 0 - - - - HMMPfam_Ferric_reduct SQRDL 58472 genome.wustl.edu 37 15 45968306 45968306 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021199.2 +1 provisional p.K221T 1.000 246 0% 364 25% 44 47.7% benign(0.208) tolerated(0.08) neutral(0.320) HMMPfam_Pyr_redox_2,superfamily_SSF51905 SEMA6D 80031 genome.wustl.edu 37 15 48057155 48057155 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153618.1 +1 reviewed p.S443 0.047 219 0% 185 30.3% 0 - - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain SEMA6D 80031 genome.wustl.edu 37 15 48058156 48058156 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153618.1 +1 reviewed p.C506 0.815 279 0% 271 26.9% 0 - - - - superfamily_Sema domain SLC12A1 6557 genome.wustl.edu 37 15 48593536 48593536 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000338.2 +1 reviewed p.E1041* 1.000 35 0% 34 20.6% 0 - - - - NULL FBN1 2200 genome.wustl.edu 37 15 48703282 48703282 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000138.4 -1 reviewed p.E2841* 1.000 197 0.5% 109 24.8% 3 0% - - - NULL FBN1 2200 genome.wustl.edu 37 15 48719807 48719807 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000138.4 -1 reviewed p.K2387N 1.000 106 0% 131 29% 3 0% probably_damaging(0.999) tolerated(0.33) deleterious(0.514) HMMPfam_TB,superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases FBN1 2200 genome.wustl.edu 37 15 48760624 48760624 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000138.4 -1 reviewed p.R1523* 0.997 105 0% 57 29.8% 0 - - - - HMMSmart_SM00179,superfamily_TB module/8-cys domain,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48776136 48776136 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000138.4 -1 reviewed p.I1239 0.816 110 0% 76 23.7% 0 - - - - HMMSmart_SM00179,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48782078 48782078 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000138.4 -1 reviewed p.E1018* 1.000 120 0% 82 28% 0 - - - - superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases FBN1 2200 genome.wustl.edu 37 15 48787750 48787750 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000138.4 -1 reviewed p.G819* 1.000 407 0% 322 23.3% 0 - - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48789529 48789529 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000138.4 -1 reviewed p.R743C 1.000 169 0% 194 26.3% 0 - possibly_damaging(0.929) tolerated(0.17) neutral(0.435) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin CEP152 22995 genome.wustl.edu 37 15 49031110 49031110 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014985.2 -1 provisional p.L1434R 0.000 337 0% 338 27.5% 2 50% possibly_damaging(0.59) deleterious(0) deleterious(0.648) NULL EID1 23741 genome.wustl.edu 37 15 49170772 49170772 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014335.2 +1 validated p.K133 1.000 105 0% 113 19.5% 40 45% - - - NULL C15orf33 196951 genome.wustl.edu 37 15 49833922 49833922 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152647.2 -1 validated p.E277* 0.999 343 0% 450 30.2% 0 - - - - NULL ATP8B4 79895 genome.wustl.edu 37 15 50189583 50189583 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024837.2 -1 validated p.R868Q 1.000 687 0% 450 29.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81665 ATP8B4 79895 genome.wustl.edu 37 15 50223502 50223502 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024837.2 -1 validated p.E486* 0.563 240 0% 362 22.9% 0 - - - - superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 ATP8B4 79895 genome.wustl.edu 37 15 50288950 50288950 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024837.2 -1 validated p.T171 0.021 79 0% 100 24% 1 0% - - - HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF81665 USP8 9101 genome.wustl.edu 37 15 50773935 50773935 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001128610.1 +1 validated p.E492D 1.000 106 0% 116 22.4% 1 0% possibly_damaging(0.783) tolerated(0.56) neutral(0.299) NULL USP50 373509 genome.wustl.edu 37 15 50835837 50835837 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203494.4 -1 validated p.F139L 1.000 73 0% 72 15.3% 0 - probably_damaging(0.986) tolerated(0.66) neutral(0.437) HMMPfam_UCH,superfamily_SSF54001 TRPM7 54822 genome.wustl.edu 37 15 50853889 50853889 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017672.4 -1 reviewed p.R1862C 1.000 106 0% 103 19.4% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL AP4E1 23431 genome.wustl.edu 37 15 51226862 51226862 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007347.3 +1 validated p.R304Q 1.000 78 0% 49 30.6% 1 0% probably_damaging(0.981) tolerated(0.18) deleterious(0.481) HMMPfam_Adaptin_N,superfamily_ARM-type_fold AP4E1 23431 genome.wustl.edu 37 15 51285712 51285712 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007347.3 +1 validated p.T746P 0.000 250 0.4% 179 29.1% 0 - benign(0) tolerated(0.12) neutral(0.261) NULL AP4E1 23431 genome.wustl.edu 37 15 51289671 51289671 + Missense_Mutation SNP C C T rs144189610 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007347.3 +1 validated p.S832L 0.139 331 0% 251 29.9% 0 - benign(0) tolerated(0.41) neutral(0.015) NULL CYP19A1 1588 genome.wustl.edu 37 15 51503245 51503245 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000103.3 -1 reviewed p.Y424 0.995 218 0% 146 28.8% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 GLDN 342035 genome.wustl.edu 37 15 51689762 51689762 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181789.2 +1 validated p.R262W 0.834 48 0% 37 32.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DMXL2 23312 genome.wustl.edu 37 15 51743895 51743895 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015263.3 -1 validated e41-1 1.000 116 0% 77 26% 0 - - - - - DMXL2 23312 genome.wustl.edu 37 15 51792160 51792160 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015263.3 -1 validated p.K1087 0.998 133 0% 105 28.6% 1 0% - - - NULL DMXL2 23312 genome.wustl.edu 37 15 51828783 51828783 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015263.3 -1 validated p.S632P 0.999 320 0% 249 30.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_WD40 repeat-like MYO5C 55930 genome.wustl.edu 37 15 52534331 52534331 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018728.2 -1 validated p.R824C 0.956 390 0% 296 31.8% 2 50% possibly_damaging(0.748) deleterious(0) deleterious(0.719) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO5C 55930 genome.wustl.edu 37 15 52534406 52534406 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018728.2 -1 validated p.A799S 1.000 252 0% 210 23.3% 3 0% benign(0.032) tolerated(0.19) neutral(0.051) HMMSmart_SM00015 MYO5A 4644 genome.wustl.edu 37 15 52672020 52672020 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000259.3 -1 reviewed p.R700W 0.795 182 0% 121 25.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO5A 4644 genome.wustl.edu 37 15 52718114 52718114 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000259.3 -1 reviewed p.I123T 1.000 170 0% 122 18.9% 0 - possibly_damaging(0.943) tolerated(0.54) neutral(0.395) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM214A 56204 genome.wustl.edu 37 15 52900909 52900909 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019600.2 -1 validated p.F734L 0.128 147 0% 109 23.9% 0 - benign(0.001) tolerated(0.64) neutral(0.003) NULL WDR72 256764 genome.wustl.edu 37 15 53905952 53905952 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182758.2 -1 validated p.S928Y 0.979 238 0% 291 19.6% 1 0% benign(0.273) deleterious(0.04) neutral(0.378) NULL WDR72 256764 genome.wustl.edu 37 15 53907886 53907886 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182758.2 -1 validated p.F839L 1.000 549 0.2% 596 30.2% 1 100% benign(0.001) tolerated(0.85) neutral(0.001) NULL WDR72 256764 genome.wustl.edu 37 15 53907917 53907917 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182758.2 -1 validated p.S829Y 1.000 651 0% 715 23.1% 0 - probably_damaging(0.991) tolerated(0.1) deleterious(0.730) NULL WDR72 256764 genome.wustl.edu 37 15 53992005 53992005 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182758.2 -1 validated p.E569D 0.998 489 0% 342 20.2% 1 0% probably_damaging(0.998) tolerated(1) deleterious(0.474) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 WDR72 256764 genome.wustl.edu 37 15 53994475 53994475 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182758.2 -1 validated p.S475 0.786 300 0% 212 32.5% 1 100% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 WDR72 256764 genome.wustl.edu 37 15 54007452 54007452 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182758.2 -1 validated p.R151K 0.001 170 0% 123 21.1% 0 - benign(0.002) tolerated(0.94) - HMMSmart_SM00320,superfamily_WD40 repeat-like UNC13C 440279 genome.wustl.edu 37 15 54305923 54305923 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080534.1 +1 provisional p.D275N 1.000 339 0% 275 33.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL UNC13C 440279 genome.wustl.edu 37 15 54306276 54306276 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080534.1 +1 provisional p.K392N 1.000 270 0% 244 32% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL UNC13C 440279 genome.wustl.edu 37 15 54307945 54307945 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080534.1 +1 provisional p.E949* 1.000 171 0% 128 26.6% 0 - - - - NULL UNC13C 440279 genome.wustl.edu 37 15 54685316 54685316 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080534.1 +1 provisional p.L1595R 1.000 170 0% 181 24.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF1041 CCPG1 9236 genome.wustl.edu 37 15 55651802 55651802 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004748.3 -1 validated p.E723D 1.000 71 0% 71 26.8% 13 23% benign(0.349) tolerated(0.55) neutral(0.118) NULL PYGO1 26108 genome.wustl.edu 37 15 55838864 55838864 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015617.1 -1 provisional p.P206H 1.000 265 0% 275 32.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PRTG 283659 genome.wustl.edu 37 15 55912260 55912260 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173814.4 -1 validated p.D1135N 1.000 198 0% 148 19.6% 0 - benign(0.043) deleterious(0.02) neutral(0.386) NULL PRTG 283659 genome.wustl.edu 37 15 55971598 55971598 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173814.4 -1 validated p.R340Q 1.000 142 0% 116 24.1% 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 TEX9 374618 genome.wustl.edu 37 15 56657869 56657869 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198524.1 +1 provisional e2+1 1.000 136 0% 82 18.3% 0 - - - - - TEX9 374618 genome.wustl.edu 37 15 56704563 56704563 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198524.1 +1 provisional p.R298C 1.000 420 0% 350 36% 2 50% probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL ZNF280D 54816 genome.wustl.edu 37 15 56923710 56923710 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017661.2 -1 validated p.K976Q 0.762 192 0% 180 31.7% 6 66.6% benign(0.002) tolerated(0.34) neutral(0.023) NULL ZNF280D 54816 genome.wustl.edu 37 15 56958922 56958922 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017661.2 -1 validated p.S603I 0.776 241 0% 184 28.8% 2 100% possibly_damaging(0.688) tolerated(0.09) deleterious(0.542) NULL TCF12 6938 genome.wustl.edu 37 15 57565313 57565313 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207036.1 +1 reviewed p.R611C 1.000 255 0% 212 23.6% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic CGNL1 84952 genome.wustl.edu 37 15 57820903 57820903 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032866.3 +1 validated p.A1031T 1.000 287 0.3% 209 34.9% 7 14.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL GCOM1 145781 genome.wustl.edu 37 15 57976681 57976681 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001018100.2 +1 reviewed p.K462N 1.000 248 0% 221 25.3% 0 - probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL ALDH1A2 8854 genome.wustl.edu 37 15 58302863 58302863 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003888.2 -1 reviewed p.G159 0.995 151 0.7% 98 39.8% 0 - - - - HMMPfam_Aldedh,superfamily_ALDH-like ALDH1A2 8854 genome.wustl.edu 37 15 58302943 58302943 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003888.2 -1 reviewed p.L133M 1.000 127 0% 107 25.2% 0 - benign(0.361) tolerated(0.13) neutral(0.367) HMMPfam_Aldedh,superfamily_ALDH-like AQP9 366 genome.wustl.edu 37 15 58467202 58467202 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020980.3 +1 reviewed p.P154 0.000 144 0% 97 24.7% 2 0% - - - HMMPfam_MIP,superfamily_Aquaporin-like SLTM 79811 genome.wustl.edu 37 15 59185137 59185137 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024755.2 -1 validated p.L619F 1.000 215 0% 148 17.6% 3 33.3% unknown(0) tolerated(0.13) - NULL SLTM 79811 genome.wustl.edu 37 15 59186159 59186159 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024755.2 -1 validated p.E503D 0.630 233 0% 160 38.1% 0 - benign(0.016) tolerated(0.22) neutral(0.043) NULL SLTM 79811 genome.wustl.edu 37 15 59205860 59205860 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024755.2 -1 validated p.Q117H 1.000 247 0% 268 31% 2 50% possibly_damaging(0.888) tolerated(0.1) deleterious(0.634) NULL RNF111 54778 genome.wustl.edu 37 15 59323665 59323665 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017610.6 +1 reviewed p.R215I 1.000 355 0% 344 22.1% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL MYO1E 4643 genome.wustl.edu 37 15 59466433 59466433 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004998.2 -1 validated p.L686I 1.000 201 0% 156 27.6% 3 33.3% possibly_damaging(0.735) tolerated(0.2) neutral(0.318) HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1E 4643 genome.wustl.edu 37 15 59502775 59502775 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004998.2 -1 validated p.R434 0.128 141 0% 88 23.9% 3 33.3% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases LOC100130107 100130107 genome.wustl.edu 37 15 60060607 60060607 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001719310.2 -1 model p.L214I 1.000 85 0% 117 22.2% 227 0% - - - NULL VPS13C 54832 genome.wustl.edu 37 15 62214161 62214161 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020821.1 -1 validated p.W2349C 1.000 447 0% 251 27.9% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL VPS13C 54832 genome.wustl.edu 37 15 62221754 62221754 + Nonsense_Mutation SNP C C A rs191791132 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020821.1 -1 validated p.E2078* 0.986 193 0% 160 23.7% 0 - - - - NULL VPS13C 54832 genome.wustl.edu 37 15 62256049 62256049 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020821.1 -1 validated p.E1106K 1.000 208 0% 180 27.2% 0 - possibly_damaging(0.832) deleterious(0.01) deleterious(0.723) NULL VPS13C 54832 genome.wustl.edu 37 15 62256067 62256067 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020821.1 -1 validated p.E1100K 1.000 196 0% 171 32.2% 0 - possibly_damaging(0.904) tolerated(0.23) neutral(0.400) NULL VPS13C 54832 genome.wustl.edu 37 15 62269297 62269297 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020821.1 -1 validated p.D798Y 1.000 194 0% 119 31.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TLN2 83660 genome.wustl.edu 37 15 62948164 62948164 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015059.2 +1 reviewed p.R180Q 1.000 100 0% 81 33.3% 0 - possibly_damaging(0.896) tolerated(0.16) neutral(0.413) HMMPfam_FERM_N,HMMSmart_B41 TLN2 83660 genome.wustl.edu 37 15 62948246 62948246 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015059.2 +1 reviewed p.D207E 1.000 104 0% 84 22.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 TLN2 83660 genome.wustl.edu 37 15 63000932 63000932 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015059.2 +1 reviewed p.D802N 1.000 27 0% 20 30% 2 100% benign(0.196) deleterious(0.04) neutral(0.367) superfamily_SSF109885 TLN2 83660 genome.wustl.edu 37 15 63125738 63125738 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015059.2 +1 reviewed p.I2346 0.997 188 0% 174 14.9% 4 0% - - - HMMPfam_I_LWEQ,HMMSmart_ILWEQ,superfamily_SSF109885 LACTB 114294 genome.wustl.edu 37 15 63419597 63419597 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032857.2 +1 reviewed p.R221C 1.000 129 0% 113 28.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Beta-lactamase,superfamily_beta-lactamase/transpeptidase-like APH1B 83464 genome.wustl.edu 37 15 63571483 63571483 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031301.3 +1 validated p.S79 0.005 137 0% 99 28.3% 0 - - - - HMMPfam_Aph-1 HERC1 8925 genome.wustl.edu 37 15 64048805 64048805 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003922.3 -1 reviewed p.R455I 1.000 139 0% 134 28.4% 0 - probably_damaging(0.969) - - superfamily_RCC1/BLIP-II HERC1 8925 genome.wustl.edu 37 15 64048815 64048815 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003922.3 -1 reviewed p.E452K 1.000 136 0% 125 30.4% 0 - probably_damaging(0.985) - - superfamily_RCC1/BLIP-II SNX1 6642 genome.wustl.edu 37 15 64418352 64418352 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003099.3 +1 reviewed p.E195 1.000 135 0% 107 32.7% 5 40% - - - HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain SNX1 6642 genome.wustl.edu 37 15 64422171 64422171 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003099.3 +1 reviewed p.F288L 1.000 71 0% 77 31.2% 28 42.8% benign(0.004) tolerated(0.31) neutral(0.027) HMMPfam_Vps5 OAZ2 4947 genome.wustl.edu 37 15 64980914 64980914 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002537.2 -1 reviewed p.D187N 1.000 32 0% 26 30.8% 75 42.6% benign(0.042) tolerated(0.08) neutral(0.302) NULL ANKDD1A 348094 genome.wustl.edu 37 15 65223091 65223091 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182703.3 +1 validated p.I214 0.169 21 0% 35 25.7% 0 - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK PDCD7 10081 genome.wustl.edu 37 15 65412129 65412129 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005707.1 -1 reviewed p.K391N 1.000 227 0% 322 37% 0 - benign(0.046) tolerated(0.13) neutral(0.255) NULL IGDCC3 9543 genome.wustl.edu 37 15 65628180 65628180 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004884.3 -1 validated p.N175I 1.000 73 0% 100 25% 0 - possibly_damaging(0.947) deleterious(0) deleterious(0.835) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin DPP8 54878 genome.wustl.edu 37 15 65782575 65782575 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_197960.2 -1 reviewed p.E276* 1.000 136 0% 118 37.3% 0 - - - - HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain DENND4A 10260 genome.wustl.edu 37 15 65983022 65983022 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001144823.1 -1 validated p.V1303M 0.068 172 0% 160 20% 1 0% benign(0) tolerated(0.15) neutral(0.241) NULL DIS3L 115752 genome.wustl.edu 37 15 66606425 66606425 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133375.3 +1 validated p.R179* 1.000 41 0% 50 28% 1 0% - - - NULL DIS3L 115752 genome.wustl.edu 37 15 66621357 66621357 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133375.3 +1 validated p.D668N 0.998 170 0% 140 31.4% 6 66.6% probably_damaging(0.981) tolerated(0.76) neutral(0.426) HMMPfam_RNB TIPIN 54962 genome.wustl.edu 37 15 66641713 66641713 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017858.2 -1 validated p.K117N 1.000 169 0% 164 35.4% 14 50% probably_damaging(0.998) tolerated(0.08) deleterious(0.774) HMMPfam_Swi3 LCTL 197021 genome.wustl.edu 37 15 66850102 66850102 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207338.2 -1 validated p.I294V 1.000 252 0% 267 30.3% 0 - possibly_damaging(0.625) tolerated(0.07) deleterious(0.537) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat IQCH 64799 genome.wustl.edu 37 15 67664855 67664855 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001031715.2 +1 validated p.K387T 0.000 381 0% 355 33.8% 0 - probably_damaging(0.988) tolerated(0.6) neutral(0.442) HMMPfam_IQ IQCH 64799 genome.wustl.edu 37 15 67713870 67713870 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001031715.2 +1 validated p.S820 0.001 171 0% 168 26.8% 0 - - - - NULL PIAS1 8554 genome.wustl.edu 37 15 68473683 68473683 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016166.1 +1 reviewed p.D539N 1.000 73 0% 62 41.9% 12 8.3% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL SPESP1 246777 genome.wustl.edu 37 15 69238449 69238449 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145658.3 +1 reviewed p.I192 0.000 221 0% 273 32.6% 0 - - - - NULL NOX5 79400 genome.wustl.edu 37 15 69347681 69347681 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024505.3 +1 validated p.F651 1.000 48 0% 81 35.8% 0 - - - - HMMPfam_NAD_binding_6,superfamily_SSF52343 GLCE 26035 genome.wustl.edu 37 15 69560903 69560903 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015554.1 +1 validated p.D392N 1.000 114 0% 87 25.3% 2 0% probably_damaging(0.956) tolerated(0.06) deleterious(0.722) NULL KIF23 9493 genome.wustl.edu 37 15 69730600 69730600 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138555.1 +1 reviewed p.K523N 0.997 121 0% 124 29% 4 50% possibly_damaging(0.833) deleterious(0.01) deleterious(0.723) NULL LRRC49 54839 genome.wustl.edu 37 15 71185952 71185952 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017691.2 +1 validated p.Q26 0.997 107 0% 134 31.3% 0 - - - - NULL LRRC49 54839 genome.wustl.edu 37 15 71272474 71272474 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017691.2 +1 validated p.K319R 1.000 254 0% 173 22.5% 0 - benign(0) tolerated(0.88) - NULL NR2E3 10002 genome.wustl.edu 37 15 72106454 72106454 + Missense_Mutation SNP G G A rs150971548 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014249.2 +1 reviewed p.V366M 0.983 24 0% 23 43.5% 0 - benign(0.004) tolerated(0.1) neutral(0.286) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain SENP8 123228 genome.wustl.edu 37 15 72432105 72432105 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145204.3 +1 reviewed p.C47 0.167 445 0% 299 19.7% 3 33.3% - - - HMMPfam_Peptidase_C48,superfamily_SSF54001 GRAMD2 196996 genome.wustl.edu 37 15 72457721 72457721 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001012642.2 -1 validated p.E192* 0.997 69 0% 88 29.5% 0 - - - - NULL TMEM202 338949 genome.wustl.edu 37 15 72700068 72700068 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080462.1 +1 provisional p.S219* 0.000 138 0% 184 22.3% 0 - - - - NULL BBS4 585 genome.wustl.edu 37 15 73007664 73007664 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033028.3 +1 reviewed p.E85* 1.000 259 0% 167 18% 0 - - - - HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like NEO1 4756 genome.wustl.edu 37 15 73408998 73408998 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002499.3 +1 validated p.K83I 1.000 551 0% 440 26.6% 0 - benign(0.002) tolerated(0.33) neutral(0.024) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ISLR2 57611 genome.wustl.edu 37 15 74426677 74426677 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130136.1 +1 validated p.R528C 0.996 9 0.000 6 0.667 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL ISLR 3671 genome.wustl.edu 37 15 74467745 74467745 + Silent SNP C C T rs187982067 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005545.3 +1 validated p.F182 0.595 57 0% 52 26.9% 194 0% - - - HMMSmart_LRRCT,superfamily_SSF52058 CYP1A1 1543 genome.wustl.edu 37 15 75014819 75014819 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000499.3 -1 reviewed p.Y207C 1.000 54 0% 64 31.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_p450,superfamily_Cytochrome P450 LOC646791 646791 genome.wustl.edu 37 15 75614252 75614252 + RNA SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_017650.3 -1 model NULL 0.051 96 0% 118 33.1% 0 - - - - - PTPN9 5780 genome.wustl.edu 37 15 75815580 75815580 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002833.2 -1 reviewed p.R102W 1.000 77 0% 107 41.1% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CRAL_TRIO,HMMSmart_SEC14,superfamily_CRAL_TRIO_C CSPG4 1464 genome.wustl.edu 37 15 75970057 75970057 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001897.4 -1 reviewed p.L1707 0.995 41 0% 70 21.4% 4 50% - - - NULL UBE2Q2 92912 genome.wustl.edu 37 15 76165844 76165844 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173469.2 +1 validated p.I175L 1.000 152 0% 187 33.2% 0 - benign(0.011) tolerated(0.45) neutral(0.013) NULL UBE2Q2 92912 genome.wustl.edu 37 15 76175737 76175737 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173469.2 +1 validated p.R286* 0.997 153 0% 180 26.7% 4 0% - - - HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like FBXO22 26263 genome.wustl.edu 37 15 76205629 76205629 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_147188.1 +1 reviewed p.R122K 1.000 93 0% 77 23.4% 12 50% benign(0) tolerated(0.42) neutral(0.014) NULL FBXO22 26263 genome.wustl.edu 37 15 76225245 76225245 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_147188.1 +1 reviewed p.G338 0.003 288 0% 189 24.9% 33 27.2% - - - HMMPfam_FIST_C SCAPER 49855 genome.wustl.edu 37 15 76673874 76673874 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020843.2 -1 validated p.L1183I 0.849 29 0% 44 25% 1 0% possibly_damaging(0.879) tolerated(0.76) neutral(0.344) NULL SCAPER 49855 genome.wustl.edu 37 15 77064115 77064115 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020843.2 -1 validated p.E405* 1.000 623 0% 504 13.5% 0 - - - - NULL SCAPER 49855 genome.wustl.edu 37 15 77064249 77064249 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020843.2 -1 validated p.R360Q 0.013 501 0% 368 23.1% 0 - benign(0) tolerated(0.73) neutral(0.002) NULL SCAPER 49855 genome.wustl.edu 37 15 77067330 77067330 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020843.2 -1 validated p.E300* 1.000 357 0% 267 28.1% 0 - - - - NULL SGK269 79834 genome.wustl.edu 37 15 77471638 77471638 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024776.2 -1 validated p.S877 0.990 151 0% 123 24.4% 4 50% - - - NULL CIB2 10518 genome.wustl.edu 37 15 78401709 78401709 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006383.2 -1 validated p.E72* 1.000 55 0% 79 26.6% 1 0% - - - superfamily_SSF47473 CHRNB4 1143 genome.wustl.edu 37 15 78921964 78921964 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000750.3 -1 validated p.I228T 1.000 165 0% 232 26.3% 0 - possibly_damaging(0.841) deleterious(0) deleterious(0.766) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD ADAMTS7 11173 genome.wustl.edu 37 15 79089028 79089028 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014272.3 -1 reviewed p.E241D 1.000 52 0% 73 9.6% 1 0% probably_damaging(0.999) tolerated(0.13) deleterious(0.743) "superfamily_Metalloproteases (""zincins"") catalytic domain" KIAA1024 23251 genome.wustl.edu 37 15 79748612 79748612 + Silent SNP G G A rs146044996 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015206.2 +1 validated p.S41 0.098 134 0% 191 25.1% 0 - - - - NULL ARNT2 9915 genome.wustl.edu 37 15 80866545 80866545 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014862.3 +1 reviewed p.S458L 0.994 65 0% 86 36% 10 40% benign(0.026) deleterious(0.02) neutral(0.384) NULL KIAA1199 57214 genome.wustl.edu 37 15 81173443 81173443 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018689.1 +1 validated p.D195N 0.691 192 0% 139 13.7% 7 14.2% benign(0.005) deleterious(0.04) neutral(0.349) NULL KIAA1199 57214 genome.wustl.edu 37 15 81224265 81224265 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018689.1 +1 validated p.R893Q 0.999 233 0% 167 18% 7 42.8% possibly_damaging(0.827) tolerated(0.11) deleterious(0.586) NULL C15orf26 161502 genome.wustl.edu 37 15 81440852 81440852 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173528.2 +1 predicted p.A295V 0.002 85 0% 89 29.2% 0 - benign(0.021) deleterious(0) neutral(0.446) NULL IL16 3603 genome.wustl.edu 37 15 81571987 81571987 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_172217.3 +1 reviewed p.C318Y 1.000 77 0% 101 33.7% 0 - possibly_damaging(0.597) tolerated(0.39) neutral(0.222) NULL IL16 3603 genome.wustl.edu 37 15 81598384 81598384 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_172217.3 +1 reviewed p.R1186* 0.992 146 0% 112 24.1% 47 0% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like TMC3 342125 genome.wustl.edu 37 15 81625493 81625493 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080532.1 -1 provisional p.R857Q 0.966 117 0% 89 38.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TMC3 342125 genome.wustl.edu 37 15 81631802 81631802 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080532.1 -1 provisional p.L630M 1.000 25 0% 29 37.9% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL TMC3 342125 genome.wustl.edu 37 15 81633816 81633816 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080532.1 -1 provisional p.L587I 0.976 38 0% 33 15.2% 0 - benign(0.172) tolerated(0.28) neutral(0.047) HMMPfam_TMC TMC3 342125 genome.wustl.edu 37 15 81635682 81635682 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080532.1 -1 provisional p.E551G 1.000 145 0% 143 33.6% 0 - benign(0.415) tolerated(0.29) neutral(0.164) HMMPfam_TMC MEX3B 84206 genome.wustl.edu 37 15 82336338 82336338 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032246.3 -1 provisional p.S291 0.216 18 0% 12 41.7% 0 - - - - NULL MEX3B 84206 genome.wustl.edu 37 15 82336472 82336472 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032246.3 -1 provisional p.D247N 1.000 45 0% 41 12.2% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL FAM154B 283726 genome.wustl.edu 37 15 82564057 82564057 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008226.1 +1 predicted p.S56L 0.633 197 0% 246 21.1% 0 - benign(0.059) tolerated(0.15) neutral(0.245) NULL AP3B2 8120 genome.wustl.edu 37 15 83334220 83334220 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004644.3 -1 validated p.R654C 1.000 43 0% 55 25.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL AP3B2 8120 genome.wustl.edu 37 15 83350216 83350216 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004644.3 -1 validated p.P159 0.996 44 0% 36 27.8% 1 0% - - - HMMPfam_Adaptin_N,superfamily_ARM-type_fold FSD2 123722 genome.wustl.edu 37 15 83431013 83431013 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001007122.2 -1 provisional p.G613V 0.998 91 0% 95 25.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL WHAMM 123720 genome.wustl.edu 37 15 83495207 83495207 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080435.1 +1 provisional p.E502* 0.809 162 0.6% 159 26.4% 0 - - - - NULL BNC1 646 genome.wustl.edu 37 15 83926485 83926485 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001717.3 -1 reviewed p.S898 0.970 366 0% 414 29.2% 0 - - - - NULL BNC1 646 genome.wustl.edu 37 15 83933489 83933489 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001717.3 -1 reviewed p.R172C 1.000 178 0% 134 23.9% 0 - probably_damaging(0.957) deleterious(0) deleterious(0.845) NULL BNC1 646 genome.wustl.edu 37 15 83935666 83935666 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001717.3 -1 reviewed p.L119F 1.000 208 0% 186 19.9% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL ADAMTSL3 57188 genome.wustl.edu 37 15 84683415 84683415 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207517.2 +1 validated p.Y1365 0.113 147 0% 164 17.1% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PDE8A 5151 genome.wustl.edu 37 15 85669532 85669532 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002605.2 +1 validated p.V727A 1.000 192 0% 145 11% 11 18.1% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like AKAP13 11214 genome.wustl.edu 37 15 86124750 86124750 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006738.4 +1 reviewed p.E1151* 0.010 161 0% 111 28.8% 0 - - - - NULL AKAP13 11214 genome.wustl.edu 37 15 86227984 86227984 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006738.4 +1 reviewed p.E1727D 0.941 281 0% 224 29.9% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL AKAP13 11214 genome.wustl.edu 37 15 86269670 86269670 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006738.4 +1 reviewed p.L2263V 0.961 192 0% 189 31.2% 2 0% possibly_damaging(0.843) deleterious(0.02) deleterious(0.706) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 AGBL1 123624 genome.wustl.edu 37 15 86801196 86801196 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152336.2 +1 validated p.E255D 0.662 473 0% 424 31.6% 0 - benign(0.009) tolerated(0.13) neutral(0.253) NULL AGBL1 123624 genome.wustl.edu 37 15 86807791 86807791 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152336.2 +1 validated p.P417 0.000 270 0% 207 24.2% 0 - - - - NULL AGBL1 123624 genome.wustl.edu 37 15 87066049 87066049 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152336.2 +1 validated p.C809Y 1.000 347 0% 358 27.4% 0 - possibly_damaging(0.521) deleterious(0.02) deleterious(0.558) HMMPfam_Peptidase_M14,superfamily_Zn-dependent exopeptidases NTRK3 4916 genome.wustl.edu 37 15 88476340 88476340 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001012338.1 -1 reviewed p.E598* 1.000 79 0% 62 22.6% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) MFGE8 4240 genome.wustl.edu 37 15 89442929 89442929 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005928.2 -1 validated p.A328 0.000 224 0.4% 377 26.5% 434 42.1% - - - HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like MFGE8 4240 genome.wustl.edu 37 15 89449889 89449889 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005928.2 -1 validated p.D170N 0.620 69 0% 65 44.6% 166 77.7% benign(0.039) tolerated(0.38) neutral(0.020) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like POLG 5428 genome.wustl.edu 37 15 89864000 89864000 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001126131.1 -1 reviewed p.R993H 1.000 19 0% 41 19.5% 26 53.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DNA_pol_A,HMMSmart_POLAc,superfamily_SSF56672 C15orf42 90381 genome.wustl.edu 37 15 90137785 90137785 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152259.3 +1 validated p.R561* 1.000 168 0% 123 23.6% 0 - - - - NULL ANPEP 290 genome.wustl.edu 37 15 90342704 90342704 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001150.2 -1 reviewed p.E636K 0.000 40 0% 88 27.3% 27 44.4% benign(0.062) tolerated(0.51) neutral(0.013) NULL ANPEP 290 genome.wustl.edu 37 15 90344341 90344341 + Splice_Site SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001150.2 -1 reviewed e11+1 0.991 36 0% 31 38.7% 0 - - - - - ZNF774 342132 genome.wustl.edu 37 15 90904247 90904247 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004309.2 +1 validated p.R395L 0.954 163 0% 183 29.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers IQGAP1 8826 genome.wustl.edu 37 15 91019920 91019920 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003870.3 +1 reviewed p.L937R 1.000 322 0% 200 26% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL VPS33B 26276 genome.wustl.edu 37 15 91544668 91544668 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018668.3 -1 reviewed p.S477Y 1.000 79 0% 99 31.3% 34 44.1% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins ENSG00000214432 0 genome.wustl.edu 37 15 91573294 91573294 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000501381 +1 novel NULL 0.518 62 0% 62 11.3% 0 - - - - - SV2B 9899 genome.wustl.edu 37 15 91824956 91824956 + Splice_Site SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014848.4 +1 validated e9-2 1.000 158 0% 142 12% 0 - - - - - SLCO3A1 28232 genome.wustl.edu 37 15 92663839 92663839 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013272.3 +1 validated p.S385Y 1.000 119 0% 147 24.5% 7 42.8% possibly_damaging(0.757) deleterious(0) deleterious(0.724) HMMPfam_OATP,superfamily_MFS general substrate transporter CHD2 1106 genome.wustl.edu 37 15 93489376 93489376 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001271.3 +1 reviewed p.K436T 1.000 233 0% 207 25.6% 3 100% probably_damaging(0.976) deleterious(0.04) deleterious(0.767) HMMPfam_Chromo,HMMSmart_SM00298,superfamily_Chromo domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases MCTP2 55784 genome.wustl.edu 37 15 95001398 95001398 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018349.3 +1 validated p.I761 1.000 93 0% 63 23.8% 2 100% - - - NULL IGF1R 3480 genome.wustl.edu 37 15 99452077 99452077 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000875.3 +1 reviewed p.R471C 0.998 57 0% 41 24.4% 1 0% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) superfamily_SSF52058 IGF1R 3480 genome.wustl.edu 37 15 99460067 99460067 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000875.3 +1 reviewed p.V721 0.955 75 0% 69 23.2% 1 0% - - - HMMSmart_FN3,superfamily_FN_III-like SYNM 23336 genome.wustl.edu 37 15 99672562 99672562 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000336292 +1 known p.L1332M 0.000 143 0% 168 14.3% 0 - benign(0.002) tolerated(0.24) neutral(0.037) NULL HSP90B2P 7190 genome.wustl.edu 37 15 99799703 99799703 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000378906 +1 known p.K267N 1.000 92 0% 80 21.2% 1 100% - - - HMMPfam_HSP90,superfamily_SSF110942 CERS3 204219 genome.wustl.edu 37 15 100996236 100996236 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178842.3 -1 validated p.T287 0.004 103 0% 135 28.1% 0 - - - - HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 CERS3 204219 genome.wustl.edu 37 15 101031058 101031058 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178842.3 -1 validated p.E84D 1.000 154 0% 123 34.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like LINS 55180 genome.wustl.edu 37 15 101114417 101114417 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040614.1 -1 reviewed p.D221N 0.326 100 0% 140 24.3% 0 - benign(0.116) deleterious(0) neutral(0.454) NULL ALDH1A3 220 genome.wustl.edu 37 15 101427837 101427837 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000693.2 +1 reviewed p.R89C 1.000 23 0% 48 25% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH OR4F6 390648 genome.wustl.edu 37 15 102346130 102346130 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005326.1 +1 provisional p.N70H 0.576 670 0% 1000 34% 0 - benign(0.064) deleterious(0) neutral(0.449) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4F15 390649 genome.wustl.edu 37 15 102358659 102358659 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001674.1 +1 provisional p.K90N 0.045 732 0% 713 23.6% 0 - probably_damaging(0.975) deleterious(0.02) deleterious(0.800) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4F15 390649 genome.wustl.edu 37 15 102358805 102358805 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001674.1 +1 provisional p.R139K 0.000 932 0% 878 30.1% 0 - benign(0.001) tolerated(0.42) neutral(0.014) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ABCA3 21 genome.wustl.edu 37 16 2349494 2349494 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001089.2 -1 reviewed p.D551Y 0.993 29 0% 45 33.3% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_P-loop containing nucleoside triphosphate hydrolases SRRM2 23524 genome.wustl.edu 37 16 2815594 2815594 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016333.3 +1 validated p.R1689C 0.824 120 0% 169 33.1% 47 46.8% unknown(0) - - NULL PRSS21 10942 genome.wustl.edu 37 16 2871451 2871451 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006799.2 +1 reviewed p.R264W 0.000 19 0% 27 33.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases THOC6 79228 genome.wustl.edu 37 16 3077066 3077066 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024339.3 +1 validated p.D231N 0.998 19 0% 27 18.5% 62 33.8% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_WD40 repeat-like ZSCAN10 84891 genome.wustl.edu 37 16 3141569 3141569 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032805.1 -1 provisional p.E198D 0.000 52 0% 49 26.5% 0 - benign(0.288) tolerated(0.14) neutral(0.338) NULL MEFV 4210 genome.wustl.edu 37 16 3299592 3299592 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000243.2 -1 reviewed p.L367I 0.000 15 0% 24 25% 0 - probably_damaging(0.991) tolerated(0.1) deleterious(0.730) NULL ZNF263 10127 genome.wustl.edu 37 16 3339418 3339418 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005741.4 +1 validated p.E304D 0.263 111 0% 87 28.7% 1 0% possibly_damaging(0.655) tolerated(0.14) deleterious(0.480) NULL ZNF263 10127 genome.wustl.edu 37 16 3340035 3340035 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005741.4 +1 validated p.R510I 1.000 53 0% 53 20.8% 0 - probably_damaging(0.996) tolerated(0.05) deleterious(0.807) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF263 10127 genome.wustl.edu 37 16 3340119 3340119 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005741.4 +1 validated p.R538I 1.000 61 0% 42 19% 6 66.6% probably_damaging(0.987) deleterious(0.03) deleterious(0.801) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF597 146434 genome.wustl.edu 37 16 3486428 3486428 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152457.1 -1 provisional p.T424M 0.000 47 0% 51 11.8% 0 - probably_damaging(0.985) - - NULL ZNF597 146434 genome.wustl.edu 37 16 3487414 3487414 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152457.1 -1 provisional p.E95D 0.364 134 0% 192 30.2% 0 - benign(0.008) tolerated(0.52) neutral(0.009) NULL SLX4 84464 genome.wustl.edu 37 16 3658963 3658963 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032444.2 -1 provisional p.M1I 0.195 97 0% 63 19% 0 - unknown(0) - - NULL ADCY9 115 genome.wustl.edu 37 16 4164273 4164273 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001116.2 -1 reviewed p.E391K 1.000 38 0% 57 19.3% 0 - probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain ANKS3 124401 genome.wustl.edu 37 16 4776998 4776998 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133450.2 -1 provisional p.I117 1.000 38 0% 61 13.1% 0 - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK PPL 5493 genome.wustl.edu 37 16 4934869 4934869 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002705.4 -1 reviewed p.E1263K 0.998 210 0.5% 216 26.4% 8 25% probably_damaging(0.999) tolerated(0.92) deleterious(0.490) NULL PPL 5493 genome.wustl.edu 37 16 4935547 4935547 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002705.4 -1 reviewed p.R1037C 1.000 25 0% 41 24.4% 11 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GRIN2A 2903 genome.wustl.edu 37 16 9857127 9857127 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000833.3 -1 reviewed p.S1425L 0.911 145 0% 88 22.7% 0 - benign(0.086) tolerated(0.06) neutral(0.329) HMMPfam_NMDAR2_C GRIN2A 2903 genome.wustl.edu 37 16 10031836 10031836 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000833.3 -1 reviewed p.V329 0.550 72 0% 106 38.7% 0 - - - - superfamily_Periplasmic binding protein-like I ATF7IP2 80063 genome.wustl.edu 37 16 10524750 10524750 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024997.2 +1 validated p.F91L 0.000 181 0% 157 24.2% 0 - benign(0.075) deleterious(0) neutral(0.450) NULL ZC3H7A 29066 genome.wustl.edu 37 16 11862325 11862325 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014153.2 -1 provisional p.E402D 0.994 144 0% 118 35.6% 0 - benign(0) tolerated(0.56) neutral(0.006) NULL MKL2 57496 genome.wustl.edu 37 16 14234613 14234613 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014048.3 +1 validated p.K50N 1.000 154 0% 135 28.1% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PARN 5073 genome.wustl.edu 37 16 14674797 14674797 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002582.2 -1 reviewed p.S399Y 1.000 236 0% 169 36.1% 9 0% benign(0.328) deleterious(0.04) neutral(0.452) NULL PARN 5073 genome.wustl.edu 37 16 14723470 14723470 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002582.2 -1 reviewed p.I27 1.000 73 1.4% 58 31% 2 0% - - - HMMPfam_CAF1,superfamily_Ribonuclease H-like NOMO1 23420 genome.wustl.edu 37 16 14947797 14947797 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014287.3 +1 reviewed p.P293S 1.000 365 0% 380 18.4% 10 10% probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_Carboxypeptidase regulatory domain KIAA0430 9665 genome.wustl.edu 37 16 15715696 15715696 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014647.3 -1 validated p.D845Y 1.000 107 0% 70 32.9% 1 0% probably_damaging(0.969) deleterious(0.02) deleterious(0.794) HMMSmart_SM00360,superfamily_RNA-binding domain RBD KIAA0430 9665 genome.wustl.edu 37 16 15718739 15718739 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014647.3 -1 validated p.E719D 1.000 222 0% 166 32.5% 0 - benign(0.005) tolerated(0.36) neutral(0.020) NULL KIAA0430 9665 genome.wustl.edu 37 16 15730093 15730093 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014647.3 -1 validated p.R84H 1.000 216 0% 215 34.9% 2 0% probably_damaging(0.973) tolerated(0.77) neutral(0.416) NULL MYH11 4629 genome.wustl.edu 37 16 15844009 15844009 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040114.1 -1 reviewed p.N689D 1.000 17 0% 31 22.6% 20 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH11 4629 genome.wustl.edu 37 16 15850312 15850312 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040114.1 -1 reviewed p.T552 0.898 43 0% 47 10.6% 5 0% - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH11 4629 genome.wustl.edu 37 16 15878554 15878554 + Splice_Site SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040114.1 -1 reviewed e5+1 1.000 68 0% 56 32.1% 0 - - - - - MYH11 4629 genome.wustl.edu 37 16 15878565 15878565 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040114.1 -1 reviewed p.S215Y 0.998 71 0% 58 19% 0 - benign(0) tolerated(0.08) neutral(0.300) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 ABCC6 368 genome.wustl.edu 37 16 16302655 16302655 + Nonsense_Mutation SNP C C A rs72650697 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001171.5 -1 reviewed p.E242* 0.898 191 0% 254 27.6% 0 - - - - NULL NOMO2 283820 genome.wustl.edu 37 16 18532101 18532101 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004060.1 -1 reviewed p.F753L 1.000 618 0% 671 11.5% 23 21.7% possibly_damaging(0.882) tolerated(0.06) deleterious(0.667) NULL RPS15A 6210 genome.wustl.edu 37 16 18794371 18794371 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001019.4 -1 reviewed p.R118Q 1.000 143 0% 169 30.2% 644 21.1% benign(0) tolerated(0.33) neutral(0.024) HMMPfam_Ribosomal_S8,superfamily_Ribosomal protein S8 SMG1 23049 genome.wustl.edu 37 16 18823123 18823123 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015092.4 -1 reviewed p.R3623Q 1.000 709 0% 765 17.3% 8 25% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL TMC7 79905 genome.wustl.edu 37 16 19027800 19027800 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024847.3 +1 validated p.L114I 0.366 32 0% 39 46.2% 0 - benign(0.301) tolerated(0.09) neutral(0.389) NULL TMC5 79838 genome.wustl.edu 37 16 19451758 19451758 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105248.1 +1 validated p.R133Q 0.000 430 0.2% 626 31.2% 1 100% benign(0.002) tolerated(0.31) neutral(0.027) NULL TMC5 79838 genome.wustl.edu 37 16 19509268 19509268 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105248.1 +1 validated p.E1001* 0.983 279 0% 345 22% 29 24.1% - - - NULL CCP110 9738 genome.wustl.edu 37 16 19562553 19562553 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014711.4 +1 validated p.K979T 1.000 236 0% 208 25% 2 100% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL IQCK 124152 genome.wustl.edu 37 16 19746686 19746686 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153208.1 +1 provisional p.E130* 1.000 91 0% 126 31.7% 0 - - - - NULL IQCK 124152 genome.wustl.edu 37 16 19775391 19775391 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153208.1 +1 provisional p.E188* 1.000 66 0% 64 28.1% 1 0% - - - NULL IQCK 124152 genome.wustl.edu 37 16 19838351 19838351 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153208.1 +1 provisional p.R232S 1.000 191 0% 188 25% 7 42.8% - - - NULL UMOD 7369 genome.wustl.edu 37 16 20355444 20355444 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008389.1 -1 reviewed p.E411 0.990 54 0% 48 33.3% 0 - - - - HMMPfam_Zona_pellucida,HMMSmart_SM00241 ACSM5 54988 genome.wustl.edu 37 16 20441037 20441037 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017888.2 +1 validated p.G347* 1.000 170 0% 138 23.9% 0 - - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM5 54988 genome.wustl.edu 37 16 20451726 20451726 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017888.2 +1 validated p.R573* 0.489 33 0% 47 44.7% 0 - - - - superfamily_Acetyl-CoA synthetase-like ACSM2A 123876 genome.wustl.edu 37 16 20476853 20476853 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010845.2 +1 validated p.L64 0.000 47 0% 56 37.5% 0 - - - - superfamily_Acetyl-CoA synthetase-like ACSM2B 348158 genome.wustl.edu 37 16 20576052 20576052 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105069.1 -1 validated p.E39G 0.479 53 0% 73 12.3% 0 - benign(0.045) deleterious(0.02) neutral(0.386) superfamily_Acetyl-CoA synthetase-like ACSM3 6296 genome.wustl.edu 37 16 20796311 20796311 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005622.3 +1 validated p.K342T 1.000 194 0% 133 32.3% 2 100% benign(0.002) tolerated(0.17) neutral(0.059) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like DNAH3 55567 genome.wustl.edu 37 16 20975196 20975196 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017539.1 -1 provisional p.T3337M 0.000 292 0% 322 34.5% 0 - possibly_damaging(0.509) deleterious(0.01) deleterious(0.576) NULL DNAH3 55567 genome.wustl.edu 37 16 20976052 20976052 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017539.1 -1 provisional p.R3052S 1.000 234 0% 299 29.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DNAH3 55567 genome.wustl.edu 37 16 21033379 21033379 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017539.1 -1 provisional p.F1897C 0.997 46 0% 60 31.7% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL DNAH3 55567 genome.wustl.edu 37 16 21045308 21045308 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017539.1 -1 provisional p.D1729N 1.000 51 0% 29 37.9% 0 - possibly_damaging(0.475) tolerated(0.51) neutral(0.166) HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH3 55567 genome.wustl.edu 37 16 21069510 21069510 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017539.1 -1 provisional p.R1274Q 0.999 69 0% 55 29.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNAH3 55567 genome.wustl.edu 37 16 21133296 21133296 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017539.1 -1 provisional p.E518D 1.000 177 0% 150 34.7% 0 - benign(0.075) tolerated(0.33) neutral(0.029) NULL ZP2 7783 genome.wustl.edu 37 16 21210894 21210894 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003460.1 -1 reviewed p.R642* 0.003 41 0% 58 24.1% 0 - - - - NULL ZP2 7783 genome.wustl.edu 37 16 21213314 21213314 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003460.1 -1 reviewed p.E440K 1.000 206 0% 199 25.6% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Zona_pellucida,HMMSmart_SM00241 ZP2 7783 genome.wustl.edu 37 16 21215510 21215510 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003460.1 -1 reviewed p.T271 1.000 193 0% 186 23.7% 0 - - - - NULL ZP2 7783 genome.wustl.edu 37 16 21218165 21218165 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003460.1 -1 reviewed p.F159L 0.051 262 0% 192 25.5% 0 - benign(0.001) tolerated(0.27) neutral(0.034) NULL OTOA 146183 genome.wustl.edu 37 16 21698770 21698770 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144672.3 +1 reviewed p.R146* 0.941 126 0% 137 20.4% 0 - - - - NULL OTOA 146183 genome.wustl.edu 37 16 21728281 21728281 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144672.3 +1 reviewed p.F514L 0.997 249 0% 306 30.7% 0 - benign(0.003) tolerated(1) - NULL OTOA 146183 genome.wustl.edu 37 16 21739665 21739665 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144672.3 +1 reviewed p.A707V 0.989 80 0% 136 22.1% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL OTOA 146183 genome.wustl.edu 37 16 21747639 21747639 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144672.3 +1 reviewed p.E787* 0.877 162 0% 180 24.4% 0 - - - - NULL ENSG00000179038 0 genome.wustl.edu 37 16 21812034 21812034 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000314442 -1 known p.S43Y 1.000 395 0% 296 25% 0 - - - - HMMPfam_RRN3 UQCRC2 7385 genome.wustl.edu 37 16 21964747 21964747 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003366.2 +1 validated p.M1I 1.000 17 0% 22 27.3% 21 38% possibly_damaging(0.612) deleterious(0) deleterious(0.656) NULL UQCRC2 7385 genome.wustl.edu 37 16 21968562 21968562 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003366.2 +1 validated p.Y14D 1.000 89 0% 91 28.6% 13 46.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL UQCRC2 7385 genome.wustl.edu 37 16 21974167 21974167 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003366.2 +1 validated p.K159Q 0.797 185 0% 179 29.1% 62 30.6% benign(0.038) tolerated(0.13) neutral(0.255) superfamily_LuxS/MPP-like metallohydrolase,HMMPfam_Peptidase_M16 PDZD9 255762 genome.wustl.edu 37 16 21999996 21999996 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173806.3 -1 validated p.D48N 0.992 191 0% 171 21.6% 0 - benign(0.397) tolerated(0.97) neutral(0.128) NULL HS3ST2 9956 genome.wustl.edu 37 16 22926796 22926796 + Silent SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006043.1 +1 reviewed p.P339 0.471 686 0% 623 30.5% 0 - - - - HMMPfam_Sulfotransfer_1,superfamily_SSF52540 SCNN1G 6340 genome.wustl.edu 37 16 23200705 23200705 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039.3 +1 reviewed p.R111C 0.677 110 0% 94 33% 0 - possibly_damaging(0.929) deleterious(0) deleterious(0.821) HMMPfam_ASC SCNN1B 6338 genome.wustl.edu 37 16 23382771 23382771 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000336.2 +1 reviewed p.I344 1.000 39 0% 44 18.2% 1 0% - - - HMMPfam_ASC GGA2 23062 genome.wustl.edu 37 16 23504719 23504719 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015044.4 -1 reviewed p.R105C 1.000 99 0% 127 28.3% 12 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VHS,superfamily_ENTH_VHS,HMMSmart_VHS PLK1 5347 genome.wustl.edu 37 16 23695284 23695284 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005030.3 +1 provisional p.F304V 1.000 437 0% 484 22.1% 32 40.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PRKCB 5579 genome.wustl.edu 37 16 24105583 24105583 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002738.6 +1 reviewed p.G262 1.000 241 0% 192 30.2% 1 0% - - - HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PRKCB 5579 genome.wustl.edu 37 16 24196781 24196781 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002738.6 +1 reviewed p.A539T 1.000 75 0% 67 22.4% 1 0% benign(0) tolerated(0.06) neutral(0.323) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CACNG3 10368 genome.wustl.edu 37 16 24268218 24268218 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006539.2 +1 reviewed p.N48S 1.000 80 0% 68 23.5% 0 - probably_damaging(0.995) tolerated(0.23) deleterious(0.499) HMMPfam_PMP22_Claudin CACNG3 10368 genome.wustl.edu 37 16 24372800 24372800 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006539.2 +1 reviewed p.I188 1.000 387 0% 339 13% 0 - - - - HMMPfam_PMP22_Claudin TNRC6A 27327 genome.wustl.edu 37 16 24834197 24834197 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000450465 +1 known p.R683* 0.934 141 0% 136 21.3% 4 0% - - - superfamily_RNA-binding domain RBD SLC5A11 115584 genome.wustl.edu 37 16 24922830 24922830 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052944.2 +1 provisional p.I668 0.920 192 0% 172 26.2% 0 - - - - NULL ARHGAP17 55114 genome.wustl.edu 37 16 24964277 24964277 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001006634.1 -1 validated p.F313L 1.000 93 0% 86 20.9% 0 - possibly_damaging(0.888) tolerated(0.43) neutral(0.361) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP ARHGAP17 55114 genome.wustl.edu 37 16 24990313 24990313 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001006634.1 -1 validated p.E23* 1.000 94 0% 113 19.5% 4 0% - - - HMMPfam_BAR,HMMSmart_SM00721 ZKSCAN2 342357 genome.wustl.edu 37 16 25251633 25251633 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001012981.4 -1 validated p.F803C 0.998 173 0% 283 28.6% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100288274 100288274 genome.wustl.edu 37 16 27221867 27221867 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343456.1 -1 model p.D72N 0.004 30 0% 12 41.7% 0 - - - - NULL SH2B1 25970 genome.wustl.edu 37 16 28883581 28883581 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015503.2 +1 reviewed p.F528 1.000 38 0% 42 14.3% 31 45.1% - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain RRN3P2 653390 genome.wustl.edu 37 16 29088001 29088001 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000415221 +1 known p.E38D 1.000 167 0% 237 29.1% 0 - probably_damaging(0.953) tolerated(0.07) deleterious(0.716) NULL RRN3P2 653390 genome.wustl.edu 37 16 29108452 29108452 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000219758 +1 known e10-1 1.000 194 0% 252 23.4% 0 - - - - - RRN3P2 653390 genome.wustl.edu 37 16 29124381 29124381 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NR_003369.2 +1 validated NULL 0.994 66 0% 69 30.4% 0 - unknown(0) deleterious(0.04) - - MVP 9961 genome.wustl.edu 37 16 29853387 29853387 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005115.3 +1 reviewed p.E530K 1.000 19 0% 13 38.5% 335 36.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DOC2A 8448 genome.wustl.edu 37 16 30018552 30018552 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003586.2 -1 reviewed p.R199H 1.000 21 4.8% 24 41.7% 0 - probably_damaging(0.994) tolerated(0.13) deleterious(0.705) HMMSmart_C2,superfamily_C2_CaLB ALDOA 226 genome.wustl.edu 37 16 30080985 30080985 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000034.2 +1 reviewed p.A264T 1.000 32 0% 30 36.7% 4562 44.2% benign(0.329) deleterious(0) deleterious(0.547) HMMPfam_Glycolytic,superfamily_SSF51569 GDPD3 79153 genome.wustl.edu 37 16 30122741 30122741 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024307.2 -1 validated p.F225L 0.970 66 0% 64 21.9% 0 - benign(0.02) tolerated(0.15) neutral(0.242) HMMPfam_GDPD,superfamily_PLC-like phosphodiesterases ITGAL 3683 genome.wustl.edu 37 16 30506072 30506072 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002209.2 +1 reviewed p.D468 0.379 32 0% 25 40% 4 0% - - - HMMPfam_FG-GAP,HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain ITGAL 3683 genome.wustl.edu 37 16 30532869 30532869 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002209.2 +1 reviewed p.P1132 0.000 58 0% 102 27.5% 4 0% - - - NULL ZNF646 9726 genome.wustl.edu 37 16 31089880 31089880 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014699.3 +1 validated p.E745 0.029 53 0% 40 17.5% 1 100% - - - NULL PRSS36 146547 genome.wustl.edu 37 16 31151684 31151684 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173502.3 -1 validated p.L740 1.000 56 0% 73 11% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ITGAM 3684 genome.wustl.edu 37 16 31335829 31335829 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000632.3 +1 reviewed p.V704 0.001 35 0% 53 30.2% 1 0% - - - HMMPfam_Integrin_alpha2,superfamily_SSF69179 ITGAX 3687 genome.wustl.edu 37 16 31373186 31373186 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000887.3 +1 reviewed p.E348K 0.733 47 0% 70 24.3% 7 0% benign(0.175) deleterious(0.05) neutral(0.361) superfamily_SSF69318 ITGAX 3687 genome.wustl.edu 37 16 31388506 31388506 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000887.3 +1 reviewed p.E903D 0.984 129 0% 152 23.7% 18 0% benign(0.044) tolerated(0.36) neutral(0.022) HMMPfam_Integrin_alpha2,superfamily_SSF69179 ITGAD 3681 genome.wustl.edu 37 16 31435471 31435471 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005353.2 +1 validated p.D1070N 0.005 32 0% 43 32.6% 1 0% benign(0.126) tolerated(1) neutral(0.011) NULL LOC401847 401847 genome.wustl.edu 37 16 33605616 33605616 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001718104.2 +1 model p.K95N 0.960 338 0% 383 32.6% 0 - - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin LOC100130700 100130700 genome.wustl.edu 37 16 34739755 34739755 + RNA SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_078680.1 -1 model NULL 0.001 78 0% 31 32.3% 0 - - - - - VPS35 55737 genome.wustl.edu 37 16 46711253 46711253 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018206.4 -1 reviewed p.E260* 1.000 123 0.8% 122 23.8% 1 0% - - - HMMPfam_Vps35 MYLK3 91807 genome.wustl.edu 37 16 46743504 46743504 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182493.2 -1 validated p.R783C 0.257 277 0% 297 26.9% 0 - probably_damaging(0.972) deleterious(0) deleterious(0.859) superfamily_Kinase_like MYLK3 91807 genome.wustl.edu 37 16 46766461 46766461 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182493.2 -1 validated p.G374D 0.017 18 0% 21 23.8% 0 - benign(0) tolerated(0.24) neutral(0.037) NULL DNAJA2 10294 genome.wustl.edu 37 16 46993268 46993268 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005880.3 -1 reviewed p.C280G 0.999 236 0% 223 22% 13 23% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_DnaJ_C,superfamily_HSP40/DnaJ peptide-binding domain DNAJA2 10294 genome.wustl.edu 37 16 47005304 47005304 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005880.3 -1 reviewed p.R107* 1.000 159 0% 177 32.2% 28 25% - - - superfamily_Chaperone J-domain ABCC12 94160 genome.wustl.edu 37 16 48175259 48175259 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033226.2 -1 reviewed p.R94Q 0.818 107 0% 109 22.9% 0 - benign(0.015) tolerated(0.55) neutral(0.007) NULL N4BP1 9683 genome.wustl.edu 37 16 48595226 48595226 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153029.3 -1 validated p.S443Y 0.010 143 0% 124 34.7% 0 - possibly_damaging(0.906) deleterious(0.01) deleterious(0.765) NULL N4BP1 9683 genome.wustl.edu 37 16 48595307 48595307 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153029.3 -1 validated p.S416I 0.001 144 0% 132 35.6% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL PAPD5 64282 genome.wustl.edu 37 16 50258833 50258833 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040284.2 +1 validated p.E290* 1.000 405 0% 427 24.1% 0 - - - - NULL BRD7 29117 genome.wustl.edu 37 16 50353864 50353864 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013263.3 -1 validated p.R612* 1.000 143 0% 107 29.9% 67 7.4% - - - NULL BRD7 29117 genome.wustl.edu 37 16 50368632 50368632 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013263.3 -1 validated p.E293* 1.000 296 0% 360 21.7% 7 14.2% - - - NULL CYLD 1540 genome.wustl.edu 37 16 50825508 50825508 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015247.2 +1 reviewed p.Q716H 0.995 93 0% 87 19.5% 0 - benign(0.088) deleterious(0) neutral(0.451) HMMPfam_UCH,superfamily_Cysteine proteinases SALL1 6299 genome.wustl.edu 37 16 51171382 51171382 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002968.2 -1 reviewed p.L1206I 1.000 46 0% 44 18.2% 8 0% possibly_damaging(0.882) tolerated(0.11) deleterious(0.616) NULL SALL1 6299 genome.wustl.edu 37 16 51173551 51173551 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002968.2 -1 reviewed p.S861L 0.995 157 0% 151 25.2% 3 33.3% possibly_damaging(0.442) tolerated(0.15) neutral(0.385) NULL CHD9 80205 genome.wustl.edu 37 16 53191175 53191175 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025134.4 +1 validated p.H392N 1.000 53 0% 49 36.7% 0 - possibly_damaging(0.459) tolerated(0.11) neutral(0.422) NULL CHD9 80205 genome.wustl.edu 37 16 53279629 53279629 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025134.4 +1 validated p.K1107N 1.000 133 0% 126 22.2% 0 - probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_SNF2_N RBL2 5934 genome.wustl.edu 37 16 53495699 53495699 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005611.3 +1 validated p.E465* 1.000 165 0% 141 26.2% 0 - - - - HMMPfam_RB_A,superfamily_Cyclin_like RBL2 5934 genome.wustl.edu 37 16 53504307 53504307 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005611.3 +1 validated p.E753A 1.000 213 0% 185 25.4% 11 63.6% probably_damaging(0.972) deleterious(0.03) deleterious(0.778) NULL RPGRIP1L 23322 genome.wustl.edu 37 16 53675262 53675262 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015272.2 -1 reviewed p.R937C 0.000 136 0% 144 25.7% 1 100% benign(0) tolerated(0.08) neutral(0.300) NULL IRX3 79191 genome.wustl.edu 37 16 54319377 54319377 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024336.2 -1 validated p.T139I 1.000 44 0% 40 25% 9 55.5% possibly_damaging(0.717) deleterious(0) deleterious(0.704) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like IRX6 79190 genome.wustl.edu 37 16 55362738 55362738 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024335.2 +1 validated p.T283M 0.355 27 0% 29 37.9% 0 - benign(0.076) tolerated(0.23) neutral(0.047) NULL MMP2 4313 genome.wustl.edu 37 16 55530905 55530905 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004530.4 +1 reviewed p.P514S 1.000 95 0% 125 22.4% 131 14.5% benign(0.004) deleterious(0.03) neutral(0.364) superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX CAPNS2 84290 genome.wustl.edu 37 16 55600912 55600912 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032330.1 +1 validated p.R82W 1.000 196 0.5% 189 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF47473 AMFR 267 genome.wustl.edu 37 16 56396223 56396223 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000314566 -1 known p.E262* 0.000 64 0% 46 21.7% 136 30.8% - - - NULL NUDT21 11051 genome.wustl.edu 37 16 56485037 56485037 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007006.2 -1 reviewed p.Q26 1.000 28 0% 29 17.2% 60 41.6% - - - NULL CETP 1071 genome.wustl.edu 37 16 57004967 57004967 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000078.2 +1 reviewed p.F184L 0.163 109 0% 60 30% 0 - probably_damaging(1) tolerated(0.84) deleterious(0.500) HMMPfam_LBP_BPI_CETP,HMMSmart_SM00328,superfamily_Bactericidal permeability-increasing protein BPI RSPRY1 89970 genome.wustl.edu 37 16 57261295 57261295 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133368.1 +1 provisional p.Y401 0.992 55 0% 73 17.8% 10 10% - - - HMMPfam_SPRY,HMMSmart_SM00449 RSPRY1 89970 genome.wustl.edu 37 16 57265151 57265151 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133368.1 +1 provisional p.F483L 1.000 144 0% 151 29.1% 10 30% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL DOK4 55715 genome.wustl.edu 37 16 57507543 57507543 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018110.3 -1 validated p.E282K 0.990 70 0% 70 10% 25 12% benign(0.39) deleterious(0.04) deleterious(0.474) NULL CCDC102A 92922 genome.wustl.edu 37 16 57550208 57550208 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033212.3 -1 validated p.D472 0.812 27 0% 58 22.4% 13 46.1% - - - NULL CDH8 1006 genome.wustl.edu 37 16 61687531 61687531 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001796.2 -1 reviewed p.E794A 1.000 187 0% 188 22.9% 0 - benign(0) tolerated(0.14) neutral(0.249) NULL CDH8 1006 genome.wustl.edu 37 16 61689563 61689563 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001796.2 -1 reviewed p.L573I 1.000 151 0% 145 23.4% 0 - benign(0.015) tolerated(0.1) neutral(0.287) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH8 1006 genome.wustl.edu 37 16 61851532 61851532 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001796.2 -1 reviewed p.A376 0.072 144 0% 113 21.2% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH11 1009 genome.wustl.edu 37 16 64982588 64982588 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000394156 -1 known p.R666I 0.000 57 0% 64 10.9% 0 - unknown(0) - - NULL PDP2 57546 genome.wustl.edu 37 16 66918405 66918405 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020786.1 +1 validated p.F73C 0.999 181 0% 202 33.7% 0 - probably_damaging(0.974) deleterious(0.02) deleterious(0.799) NULL CDH16 1014 genome.wustl.edu 37 16 66944308 66944308 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004062.2 -1 reviewed p.Y674* 0.988 37 0% 39 25.6% 8 0% - - - NULL ELMO3 79767 genome.wustl.edu 37 16 67236090 67236090 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024712.3 +1 reviewed p.E441D 1.000 69 0% 38 31.6% 30 16.6% possibly_damaging(0.648) deleterious(0.02) deleterious(0.611) HMMPfam_ELMO_CED12 FHOD1 29109 genome.wustl.edu 37 16 67264120 67264120 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013241.2 -1 reviewed p.F1021L 0.608 41 0% 34 44.1% 19 42.1% benign(0.307) tolerated(0.23) neutral(0.137) HMMSmart_FH2 SLC9A5 6553 genome.wustl.edu 37 16 67290489 67290489 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004594.2 +1 validated p.I343 1.000 63 0% 79 30.4% 0 - - - - HMMPfam_Na_H_Exchanger CTCF 10664 genome.wustl.edu 37 16 67645102 67645102 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006565.2 +1 reviewed p.T123A 1.000 180 0% 194 24.2% 4 0% benign(0) tolerated(0.7) neutral(0.002) NULL CTCF 10664 genome.wustl.edu 37 16 67645270 67645270 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006565.2 +1 reviewed p.E179* 1.000 165 0.6% 169 21.9% 7 0% - - - NULL RLTPR 146206 genome.wustl.edu 37 16 67688681 67688681 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013838.1 +1 provisional p.R1195W 0.994 35 0% 34 29.4% 10 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TSNAXIP1 55815 genome.wustl.edu 37 16 67858664 67858664 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018430.2 +1 validated p.K166N 1.000 34 0% 33 24.2% 0 - possibly_damaging(0.546) deleterious(0.02) deleterious(0.569) NULL DPEP3 64180 genome.wustl.edu 37 16 68011693 68011693 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022357.3 -1 reviewed p.D291Y 1.000 25 0% 32 25% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M19,superfamily_Metallo-dependent hydrolases DPEP2 64174 genome.wustl.edu 37 16 68021654 68021654 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022355.2 -1 validated p.E406* 0.000 112 0% 108 33.3% 0 - - - - superfamily_Metallo-dependent hydrolases DUS2L 54920 genome.wustl.edu 37 16 68112866 68112866 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017803.3 +1 provisional p.E487K 0.056 42 0% 51 23.5% 8 37.5% benign(0.007) tolerated(0.12) neutral(0.261) NULL PRMT7 54496 genome.wustl.edu 37 16 68358585 68358585 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019023.2 +1 validated e3-1 1.000 85 0% 79 29.1% 0 - - - - - ZFP90 146198 genome.wustl.edu 37 16 68597334 68597334 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133458.2 +1 provisional p.K215T 0.997 356 0.3% 308 28.2% 1 0% benign(0.004) tolerated(0.07) neutral(0.319) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP90 146198 genome.wustl.edu 37 16 68598023 68598023 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133458.2 +1 provisional p.T445A 0.626 281 0% 268 26.5% 0 - possibly_damaging(0.935) deleterious(0.04) deleterious(0.730) superfamily_C2H2 and C2HC zinc fingers ZFP90 146198 genome.wustl.edu 37 16 68598492 68598492 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133458.2 +1 provisional p.R601K 1.000 310 0% 255 43.1% 0 - possibly_damaging(0.815) tolerated(0.23) neutral(0.349) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CDH3 1001 genome.wustl.edu 37 16 68712098 68712098 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001793.4 +1 reviewed p.R103Q 0.998 97 0% 109 23.9% 7 14.2% probably_damaging(0.994) tolerated(0.38) deleterious(0.470) NULL CDH1 999 genome.wustl.edu 37 16 68842745 68842745 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004360.3 +1 reviewed p.T227 0.001 97 0% 121 30.6% 13 30.7% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like TMCO7 79613 genome.wustl.edu 37 16 68894337 68894337 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024562.1 +1 validated p.I215 1.000 129 0% 213 19.2% 1 0% - - - NULL TMCO7 79613 genome.wustl.edu 37 16 68894414 68894414 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024562.1 +1 validated p.T241K 0.000 115 0% 124 38.7% 1 0% benign(0) tolerated(0.98) - NULL PDXDC2P 283970 genome.wustl.edu 37 16 70048061 70048061 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000325845 -1 known p.E383* 1.000 57 0% 69 27.5% 2 0% - - - superfamily_PLP-dependent transferases PDPR 55066 genome.wustl.edu 37 16 70162898 70162898 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017990.3 +1 validated p.K160N 1.000 361 0% 455 14.7% 0 - benign(0.081) tolerated(0.11) neutral(0.278) HMMPfam_DAO,superfamily_SSF51905 AARS 16 genome.wustl.edu 37 16 70310908 70310908 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001605.2 -1 reviewed p.F98 1.000 163 0% 173 31.2% 16 18.7% - - - HMMPfam_tRNA-synt_2c,superfamily_SSF55681 COG4 25839 genome.wustl.edu 37 16 70534993 70534993 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015386.2 -1 validated p.E355* 1.000 84 0% 76 27.6% 8 37.5% - - - HMMPfam_COG4,HMMSmart_SM00762 VAC14 55697 genome.wustl.edu 37 16 70817441 70817441 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018052.3 -1 validated p.S204L 0.999 49 0% 33 30.3% 4 50% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_ARM-type_fold HYDIN 54768 genome.wustl.edu 37 16 70852326 70852326 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032821.2 -1 validated p.P4858 0.435 26 0% 22 18.2% 4 100% - - - NULL HYDIN 54768 genome.wustl.edu 37 16 70866887 70866887 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032821.2 -1 validated p.S4587Y 0.606 107 0% 83 9.6% 0 - benign(0.091) tolerated(0.06) neutral(0.329) NULL HYDIN 54768 genome.wustl.edu 37 16 70894047 70894047 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032821.2 -1 validated p.I4017S 0.000 241 0% 202 30.2% 0 - benign(0) tolerated(1) - NULL HYDIN 54768 genome.wustl.edu 37 16 70913257 70913257 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032821.2 -1 validated p.L3499 1.000 50 0% 38 18.4% 0 - - - - NULL HYDIN 54768 genome.wustl.edu 37 16 70913595 70913595 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032821.2 -1 validated p.S3426F 0.998 102 0% 108 13% 1 0% benign(0.091) deleterious(0.01) neutral(0.412) NULL HYDIN 54768 genome.wustl.edu 37 16 71009055 71009055 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032821.2 -1 validated p.R1585C 0.000 243 0% 266 19.9% 0 - benign(0.141) tolerated(0.1) neutral(0.298) NULL HYDIN 54768 genome.wustl.edu 37 16 71015319 71015319 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032821.2 -1 validated p.C1494 0.996 143 0% 132 23.5% 0 - - - - NULL HYDIN 54768 genome.wustl.edu 37 16 71019120 71019120 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032821.2 -1 validated p.L1433I 0.000 51 0% 55 20% 0 - possibly_damaging(0.806) tolerated(0.41) neutral(0.319) NULL ZNF23 7571 genome.wustl.edu 37 16 71482142 71482142 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145911.1 -1 provisional p.G596C 1.000 256 0% 252 27.8% 4 50% probably_damaging(0.997) deleterious(0.05) deleterious(0.811) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF23 7571 genome.wustl.edu 37 16 71483711 71483711 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145911.1 -1 provisional p.D73N 0.007 404 0% 358 24% 0 - benign(0.001) tolerated(0.49) neutral(0.011) NULL TAT 6898 genome.wustl.edu 37 16 71604689 71604689 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000353.2 -1 reviewed p.D269N 0.928 115 0% 91 29.7% 0 - benign(0) tolerated(0.61) neutral(0.004) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases PHLPP2 23035 genome.wustl.edu 37 16 71692587 71692587 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015020.2 -1 validated p.F706S 1.000 233 0% 288 20.5% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00364,superfamily_L domain-like AP1G1 164 genome.wustl.edu 37 16 71767052 71767052 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001030007.1 -1 reviewed p.R796Q 1.000 47 0% 58 34.5% 16 31.2% unknown(0) tolerated(0.1) - HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809,superfamily_Clathrin adaptor appendage domain AP1G1 164 genome.wustl.edu 37 16 71823246 71823246 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001030007.1 -1 reviewed p.R46Q 1.000 59 0% 56 32.1% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM repeat TXNL4B 54957 genome.wustl.edu 37 16 72122918 72122918 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142317.1 -1 validated p.F84L 1.000 166 0% 199 16.1% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DIM1,superfamily_Thiordxn-like_fd ZFHX3 463 genome.wustl.edu 37 16 72992268 72992268 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006885.3 -1 reviewed p.E593K 1.000 88 0% 66 33.3% 4 0% unknown(0) - - NULL PSMD7 5713 genome.wustl.edu 37 16 74334091 74334091 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002811.3 +1 reviewed p.S51 1.000 71 0% 55 27.3% 24 20.8% - - - HMMPfam_Mov34,HMMSmart_JAB_MPN MLKL 197259 genome.wustl.edu 37 16 74729229 74729229 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152649.2 -1 validated p.E143K 0.980 209 0% 182 17% 2 0% probably_damaging(0.995) tolerated(0.31) deleterious(0.485) NULL ZFP1 162239 genome.wustl.edu 37 16 75203871 75203871 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153688.2 +1 validated p.R288I 1.000 79 0% 129 29.5% 3 100% probably_damaging(0.961) tolerated(0.05) deleterious(0.750) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers KARS 3735 genome.wustl.edu 37 16 75669973 75669973 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130089.1 -1 reviewed p.F197C 1.000 60 0% 71 21.1% 24 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_tRNA_anti,superfamily_Nucleic_acid_OB CNTNAP4 85445 genome.wustl.edu 37 16 76311629 76311629 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000307431 +1 known p.E23K 0.005 39 0% 42 47.6% 0 - benign(0.074) tolerated(0.56) neutral(0.011) NULL CNTNAP4 85445 genome.wustl.edu 37 16 76483713 76483713 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033401.3 +1 reviewed p.S343* 0.996 44 0% 27 37% 0 - - - - NULL ADAMTS18 170692 genome.wustl.edu 37 16 77331221 77331221 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_199355.2 -1 reviewed p.E922 0.999 197 0% 151 24.5% 0 - - - - HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat NUDT7 283927 genome.wustl.edu 37 16 77775565 77775565 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105663.1 +1 reviewed p.F145 0.937 142 0% 159 28.3% 11 27.2% - - - HMMPfam_NUDIX,superfamily_NUDIX_hydrolase CLEC3A 10143 genome.wustl.edu 37 16 78056600 78056600 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005752.3 +1 validated p.R26I 0.852 139 0% 161 29.8% 0 - possibly_damaging(0.613) deleterious(0.02) deleterious(0.596) NULL CLEC3A 10143 genome.wustl.edu 37 16 78064421 78064421 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005752.3 +1 validated p.E93* 1.000 157 0% 150 36.7% 0 - - - - HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold WWOX 51741 genome.wustl.edu 37 16 78466392 78466392 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016373.1 +1 reviewed p.D267Y 1.000 199 0% 132 32.6% 6 50% benign(0.127) deleterious(0) neutral(0.455) superfamily_NAD(P)-binding Rossmann-fold domains ATMIN 23300 genome.wustl.edu 37 16 81075941 81075941 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015251.2 +1 validated p.S173L 0.939 138 0% 206 27.2% 16 18.7% probably_damaging(0.975) tolerated(0.28) neutral(0.449) HMMSmart_SM00355 PKD1L2 114780 genome.wustl.edu 37 16 81145769 81145769 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052892.3 -1 reviewed p.R2328C 0.950 141 0% 211 28.9% 0 - unknown(0) - - NULL PKD1L2 114780 genome.wustl.edu 37 16 81253836 81253836 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001076780.1 -1 reviewed p.R47H 0.012 148 0% 170 21.8% 0 - benign(0.034) tolerated(0.29) neutral(0.031) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like PLCG2 5336 genome.wustl.edu 37 16 81934316 81934316 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002661.2 +1 validated p.T431 0.000 29 0% 30 30% 2 0% - - - HMMPfam_PI-PLC-X,HMMSmart_PLCXc,superfamily_PLC-like_Pdiesterase_TIM-brl HSD17B2 3294 genome.wustl.edu 37 16 82069255 82069255 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002153.2 +1 validated p.E76* 0.701 153 0% 166 31.9% 0 - - - - NULL DNAAF1 123872 genome.wustl.edu 37 16 84189296 84189296 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178452.4 +1 reviewed p.S228L 1.000 172 0% 249 35.7% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_Outer arm dynein light chain 1 ZC3H18 124245 genome.wustl.edu 37 16 88688691 88688691 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144604.3 +1 validated p.R521Q 1.000 18 0% 12 50% 17 70.5% unknown(0) deleterious(0.04) - NULL ANKRD11 29123 genome.wustl.edu 37 16 89349410 89349410 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013275.4 -1 validated p.E1180 0.000 204 0% 212 19.8% 1 0% - - - superfamily_Ankyrin repeat ANKRD11 29123 genome.wustl.edu 37 16 89349799 89349799 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013275.4 -1 validated p.E1051* 1.000 314 0% 288 23.6% 0 - - - - superfamily_Ankyrin repeat FANCA 2175 genome.wustl.edu 37 16 89874745 89874745 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000135.2 -1 reviewed p.L185I 0.969 233 0% 319 19.7% 0 - probably_damaging(0.99) deleterious(0.04) deleterious(0.790) NULL PRPF8 10594 genome.wustl.edu 37 17 1577960 1577960 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006445.3 -1 reviewed p.T1025 0.349 255 0% 337 24% 9 11.1% - - - HMMPfam_RRM_4 SERPINF2 5345 genome.wustl.edu 37 17 1656056 1656056 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000934.3 +1 reviewed p.M345I 1.000 12 0% 18 38.9% 17 41.1% benign(0.235) tolerated(0.33) neutral(0.048) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SMYD4 114826 genome.wustl.edu 37 17 1707951 1707951 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052928.2 -1 validated p.S113L 1.000 78 0% 60 31.7% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_TPR-like SMG6 23293 genome.wustl.edu 37 17 2203416 2203416 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017575.4 -1 validated p.A211T 0.005 249 0% 260 21.5% 0 - benign(0) tolerated(0.38) neutral(0.018) NULL RAP1GAP2 23108 genome.wustl.edu 37 17 2861061 2861061 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015085.4 +1 reviewed p.E58D 1.000 42 0% 66 13.6% 0 - possibly_damaging(0.601) tolerated(0.78) neutral(0.209) NULL OR1G1 8390 genome.wustl.edu 37 17 3029950 3029950 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003555.1 -1 provisional p.S299Y 0.000 239 0% 175 26.3% 0 - possibly_damaging(0.463) deleterious(0) deleterious(0.597) superfamily_SSF81321 OR1A2 26189 genome.wustl.edu 37 17 3101316 3101316 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012352.1 +1 provisional p.F168L 1.000 292 0% 312 33.7% 0 - probably_damaging(0.988) deleterious(0.03) deleterious(0.802) HMMPfam_7tm_1,superfamily_SSF81321 OR1A2 26189 genome.wustl.edu 37 17 3101684 3101684 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012352.1 +1 provisional p.R291I 1.000 275 0% 278 26.3% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) superfamily_SSF81321 OR1A1 8383 genome.wustl.edu 37 17 3119369 3119369 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014565.2 +1 validated p.G152E 0.002 274 0% 287 32.1% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_7tm_1,superfamily_SSF81321 OR1E1 8387 genome.wustl.edu 37 17 3301556 3301556 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003553.2 -1 validated p.R50Q 0.000 386 0% 486 29.6% 0 - benign(0.003) tolerated(0.44) neutral(0.013) HMMPfam_7tm_1,superfamily_SSF81321 SPATA22 84690 genome.wustl.edu 37 17 3343618 3343618 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032598.4 -1 validated p.P305 1.000 199 0% 243 26.7% 0 - - - - NULL TRPV3 162514 genome.wustl.edu 37 17 3433498 3433498 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145068.2 -1 reviewed e8-1 1.000 44 0% 56 25% 0 - - - - - TRPV3 162514 genome.wustl.edu 37 17 3445840 3445840 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145068.2 -1 reviewed p.E207* 0.934 42 0% 66 10.6% 0 - - - - superfamily_Ankyrin repeat CTNS 1497 genome.wustl.edu 37 17 3563594 3563594 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001031681.2 +1 reviewed p.F345 1.000 30 0% 33 18.2% 4 75% - - - NULL C17orf85 55421 genome.wustl.edu 37 17 3724601 3724601 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001114118.1 -1 provisional p.K314N 1.000 111 0% 134 34.3% 3 66.6% benign(0.189) deleterious(0) neutral(0.462) NULL ZZEF1 23140 genome.wustl.edu 37 17 3968049 3968049 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015113.3 -1 validated p.E1442K 0.957 117 0% 96 28.1% 1 0% benign(0) deleterious(0.01) neutral(0.406) NULL ANKFY1 51479 genome.wustl.edu 37 17 4120394 4120394 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016376.3 -1 validated p.T114 0.920 71 0% 73 27.4% 0 - - - - HMMSmart_BTB,superfamily_ANK,HMMPfam_BTB ALOX15 246 genome.wustl.edu 37 17 4536716 4536716 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001140.3 -1 validated p.F414S 0.354 199 0% 348 31.9% 0 - probably_damaging(0.955) deleterious(0) deleterious(0.843) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase GP1BA 2811 genome.wustl.edu 37 17 4836490 4836490 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000173.5 +1 reviewed p.E197D 0.007 161 0% 238 13% 1 0% benign(0.006) tolerated(0.34) neutral(0.023) superfamily_SSF52058 ZFP3 124961 genome.wustl.edu 37 17 4995365 4995365 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153018.2 +1 validated p.R189I 1.000 215 0.5% 182 34.6% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF232 7775 genome.wustl.edu 37 17 5009376 5009376 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014519.2 -1 validated p.E360K 0.001 96 0% 114 32.5% 4 25% unknown(0) tolerated(0.65) - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers USP6 9098 genome.wustl.edu 37 17 5073925 5073925 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004505.2 +1 validated p.K1223N 1.000 91 0% 77 28.6% 0 - benign(0.042) tolerated(0.07) neutral(0.322) HMMPfam_UCH,superfamily_Cysteine proteinases ZNF594 84622 genome.wustl.edu 37 17 5087181 5087181 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032530.1 -1 validated p.N124T 0.990 170 0% 173 26.6% 0 - benign(0.073) deleterious(0.04) neutral(0.354) superfamily_SSF57667 RABEP1 9135 genome.wustl.edu 37 17 5238602 5238602 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004703.4 +1 validated p.G164D 0.994 130 0% 88 30.7% 3 0% benign(0.003) deleterious(0.01) neutral(0.406) HMMPfam_Rabaptin RABEP1 9135 genome.wustl.edu 37 17 5281510 5281510 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004703.4 +1 validated p.K752E 0.998 140 0% 143 33.6% 1 100% benign(0.053) tolerated(0.34) neutral(0.026) HMMPfam_Rab5-bind DERL2 51009 genome.wustl.edu 37 17 5384696 5384696 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016041.3 -1 provisional p.R83* 1.000 146 0% 171 22.2% 17 11.7% - - - HMMPfam_DER1 NLRP1 22861 genome.wustl.edu 37 17 5421161 5421161 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033004.3 -1 reviewed p.S1321L 1.000 203 0% 159 18.2% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NLRP1 22861 genome.wustl.edu 37 17 5424907 5424907 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033004.3 -1 reviewed p.R1240 0.000 77 0% 220 12.7% 3 0% - - - NULL ALOX12 239 genome.wustl.edu 37 17 6902112 6902112 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000697.2 +1 validated p.F166 1.000 176 0% 268 10.1% 0 - - - - HMMPfam_Lipoxygenase,superfamily_Lipoxygenase BCL6B 255877 genome.wustl.edu 37 17 6927918 6927918 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181844.3 +1 validated p.I200 0.992 61 0% 58 17.2% 0 - - - - NULL PHF23 79142 genome.wustl.edu 37 17 7139698 7139698 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024297.2 -1 validated p.R183Q 1.000 39 0% 58 24.1% 12 25% possibly_damaging(0.772) deleterious(0.03) deleterious(0.651) NULL NEURL4 84461 genome.wustl.edu 37 17 7219510 7219510 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032442.2 -1 validated p.E1541K 0.998 36 0% 55 23.6% 21 57.1% possibly_damaging(0.892) deleterious(0.05) deleterious(0.697) NULL FGF11 2256 genome.wustl.edu 37 17 7344857 7344857 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004112.2 +1 reviewed p.P87 0.035 38 0% 42 33.3% 0 - - - - HMMPfam_FGF,HMMSmart_FGF,superfamily_Cytok_IL1_like EFNB3 1949 genome.wustl.edu 37 17 7611805 7611805 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001406.3 +1 reviewed p.C156 1.000 14 0% 28 28.6% 0 - - - - HMMPfam_Ephrin,superfamily_Cupredoxins DNAH2 146754 genome.wustl.edu 37 17 7626947 7626947 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020877.2 +1 validated p.E56 0.793 71 0% 70 25.7% 0 - - - - NULL DNAH2 146754 genome.wustl.edu 37 17 7646318 7646318 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020877.2 +1 validated p.V588F 0.068 78 0% 122 11.5% 0 - possibly_damaging(0.6) tolerated(0.7) neutral(0.209) HMMPfam_DHC_N1 DNAH2 146754 genome.wustl.edu 37 17 7646565 7646565 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000082259 +1 known p.S752Y 0.000 41 0% 80 27.5% 0 - unknown(0) deleterious(0) - HMMPfam_DHC_N1 DNAH2 146754 genome.wustl.edu 37 17 7668730 7668730 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020877.2 +1 validated p.L1120F 0.064 155 0% 173 32.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Spectrin repeat DNAH2 146754 genome.wustl.edu 37 17 7678131 7678131 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020877.2 +1 validated p.S1519Y 1.000 93 0% 94 29.8% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_DHC_N2 DNAH2 146754 genome.wustl.edu 37 17 7690246 7690246 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020877.2 +1 validated p.F2166 1.000 79 0% 79 30.4% 0 - - - - HMMPfam_AAA_5 DNAH2 146754 genome.wustl.edu 37 17 7708333 7708333 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020877.2 +1 validated p.A3081S 1.000 107 0% 94 18.1% 0 - possibly_damaging(0.833) tolerated(0.09) deleterious(0.614) NULL DNAH2 146754 genome.wustl.edu 37 17 7735060 7735060 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020877.2 +1 validated p.I4231 0.994 23 0% 40 22.5% 0 - - - - HMMPfam_Dynein_heavy DNAH2 146754 genome.wustl.edu 37 17 7736532 7736532 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020877.2 +1 validated p.S4374 0.785 28 0% 26 34.6% 0 - - - - HMMPfam_Dynein_heavy ALOX12B 242 genome.wustl.edu 37 17 7976206 7976206 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001139.2 -1 reviewed p.E663D 0.452 47 0% 54 22.2% 0 - benign(0.001) tolerated(0.55) neutral(0.007) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase PER1 5187 genome.wustl.edu 37 17 8052892 8052892 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002616.2 -1 reviewed p.D247 0.956 62 0% 65 24.6% 5 0% - - - HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain) AURKB 9212 genome.wustl.edu 37 17 8110514 8110514 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004217.2 -1 validated p.I126 0.998 53 0% 69 29% 49 20.4% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KRBA2 124751 genome.wustl.edu 37 17 8273383 8273383 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_213597.2 -1 provisional p.R183Q 0.012 323 0% 322 31.7% 2 0% possibly_damaging(0.901) tolerated(0.15) deleterious(0.598) NULL MYH10 4628 genome.wustl.edu 37 17 8526242 8526242 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005964.1 -1 validated p.R108H 1.000 289 0% 234 35% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases SPDYE4 388333 genome.wustl.edu 37 17 8660703 8660703 + Missense_Mutation SNP G G A rs149790109 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001128076.1 -1 provisional p.R73C 0.000 36 0% 85 20% 0 - possibly_damaging(0.736) deleterious(0.02) deleterious(0.652) NULL USP43 124739 genome.wustl.edu 37 17 9631454 9631454 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153210.3 +1 validated p.R840Q 0.999 26 0% 31 25.8% 39 20.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GLP2R 9340 genome.wustl.edu 37 17 9774139 9774139 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004246.1 +1 reviewed p.D378Y 1.000 203 0% 147 24.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_2 GAS7 8522 genome.wustl.edu 37 17 9843493 9843493 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_201433.1 -1 reviewed p.A252 0.956 269 0% 316 33.5% 2 0% - - - HMMPfam_FCH,HMMSmart_SM00055 MYH13 8735 genome.wustl.edu 37 17 10216027 10216027 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003802.2 -1 validated p.T1410M 1.000 41 0% 31 35.5% 0 - benign(0.038) deleterious(0.03) neutral(0.366) HMMPfam_Myosin_tail_1 MYH13 8735 genome.wustl.edu 37 17 10223760 10223760 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003802.2 -1 validated p.A1055 0.909 122 0% 119 20.2% 1 0% - - - superfamily_Prefoldin MYH13 8735 genome.wustl.edu 37 17 10267830 10267830 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003802.2 -1 validated p.E6D 0.989 53 0% 51 23.5% 0 - benign(0) tolerated(0.47) neutral(0.011) NULL MYH8 4626 genome.wustl.edu 37 17 10304272 10304272 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002472.2 -1 reviewed p.E1087* 1.000 140 0.7% 118 30.5% 0 - - - - HMMPfam_Myosin_tail_1 MYH8 4626 genome.wustl.edu 37 17 10304475 10304475 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002472.2 -1 reviewed p.R1048* 1.000 221 0% 190 28.4% 0 - - - - NULL MYH8 4626 genome.wustl.edu 37 17 10304929 10304929 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002472.2 -1 reviewed p.K954N 1.000 583 0% 481 29.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL MYH4 4622 genome.wustl.edu 37 17 10359218 10359218 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017533.2 -1 validated p.E657K 1.000 223 0% 222 19.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH4 4622 genome.wustl.edu 37 17 10360991 10360991 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017533.2 -1 validated p.D548A 1.000 130 0.8% 145 20.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH4 4622 genome.wustl.edu 37 17 10363584 10363584 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017533.2 -1 validated p.S401Y 1.000 173 0% 167 29.3% 0 - benign(0.021) deleterious(0.02) neutral(0.384) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH2 4620 genome.wustl.edu 37 17 10426982 10426982 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001100112.1 -1 reviewed p.A1768V 1.000 222 0% 186 29% 0 - benign(0.077) tolerated(0.09) neutral(0.302) HMMPfam_Myosin_tail_1 MYH2 4620 genome.wustl.edu 37 17 10429015 10429015 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001100112.1 -1 reviewed p.D1456N 1.000 187 0% 145 27.6% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Myosin_tail_1 MYH2 4620 genome.wustl.edu 37 17 10447242 10447242 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001100112.1 -1 reviewed p.E209* 0.967 132 0% 166 37.3% 0 - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 DNAH9 1770 genome.wustl.edu 37 17 11556132 11556132 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001372.3 +1 reviewed p.R803I 1.000 254 0% 165 38.8% 0 - possibly_damaging(0.951) tolerated(0.1) deleterious(0.680) NULL DNAH9 1770 genome.wustl.edu 37 17 11583101 11583101 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001372.3 +1 reviewed p.K1127N 0.000 141 0.7% 183 29.5% 0 - benign(0.076) tolerated(0.45) neutral(0.018) superfamily_Spectrin repeat DNAH9 1770 genome.wustl.edu 37 17 11645569 11645569 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001372.3 +1 reviewed p.Q2017P 0.983 238 0% 199 23.1% 0 - benign(0.164) deleterious(0) neutral(0.460) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH9 1770 genome.wustl.edu 37 17 11783453 11783453 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001372.3 +1 reviewed p.L3513I 0.703 157 0% 153 36.6% 0 - probably_damaging(0.991) tolerated(1) neutral(0.444) NULL DNAH9 1770 genome.wustl.edu 37 17 11784537 11784537 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001372.3 +1 reviewed p.I3538S 1.000 182 0% 187 31.6% 0 - probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL MYOCD 93649 genome.wustl.edu 37 17 12655809 12655809 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153604.2 +1 reviewed p.R402* 0.994 74 0% 134 29.9% 0 - - - - HMMPfam_SAP,HMMSmart_SM00513,superfamily_SAP domain ENSG00000205325 0 genome.wustl.edu 37 17 14683311 14683311 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000379640 -1 known p.G59D 0.000 104 0% 99 34.3% 0 - unknown(0) - - NULL LOC732391 732391 genome.wustl.edu 37 17 15469518 15469518 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001722159.1 -1 model p.E21K 0.000 128 0% 131 35.1% 0 - benign(0.001) tolerated(0.24) neutral(0.037) NULL CDRT1 374286 genome.wustl.edu 37 17 15498116 15498116 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006382.3 -1 provisional p.A598V 1.000 76 0% 74 21.6% 0 - probably_damaging(0.99) tolerated(0.9) neutral(0.442) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ZNF286A 57335 genome.wustl.edu 37 17 15620186 15620186 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130842.1 +1 validated p.K383T 0.925 115 0% 168 19% 1 0% probably_damaging(0.957) deleterious(0.02) deleterious(0.784) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF286A 57335 genome.wustl.edu 37 17 15620187 15620187 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130842.1 +1 validated p.K383 0.919 114 0% 168 20.2% 1 100% - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 TBC1D26 353149 genome.wustl.edu 37 17 15642057 15642057 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178571.4 +1 validated p.R137M 0.000 137 0% 152 17.8% 0 - probably_damaging(0.977) deleterious(0.04) deleterious(0.768) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p NCOR1 9611 genome.wustl.edu 37 17 15965477 15965477 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006311.2 -1 reviewed p.G1777* 1.000 262 0% 315 14.9% 9 0% - - - NULL NCOR1 9611 genome.wustl.edu 37 17 15965583 15965583 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006311.2 -1 reviewed p.G1741 0.995 159 0% 181 29.8% 16 81.2% - - - NULL NCOR1 9611 genome.wustl.edu 37 17 15978861 15978861 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006311.2 -1 reviewed p.I1219 0.880 174 0% 185 32.4% 1 100% - - - NULL CCDC144A 9720 genome.wustl.edu 37 17 16612268 16612268 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014695.1 +1 provisional p.K299N 1.000 542 0% 347 17.6% 0 - possibly_damaging(0.931) deleterious(0.02) deleterious(0.760) NULL CCDC144A 9720 genome.wustl.edu 37 17 16612848 16612848 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014695.1 +1 provisional p.E493* 0.927 482 0% 370 29.2% 5 0% - - - NULL CCDC144A 9720 genome.wustl.edu 37 17 16638556 16638556 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014695.1 +1 provisional p.D991Y 0.008 128 0% 128 8.6% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL CCDC144A 9720 genome.wustl.edu 37 17 16664886 16664886 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014695.1 +1 provisional p.L1174 0.995 124 0% 124 9.7% 0 - - - - NULL TNFRSF13B 23495 genome.wustl.edu 37 17 16842951 16842951 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012452.2 -1 reviewed p.R264 0.000 17 0% 25 40% 0 - - - - NULL COPS3 8533 genome.wustl.edu 37 17 17158199 17158199 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003653.2 -1 reviewed p.E333K 1.000 143 0% 178 33.1% 61 36% possibly_damaging(0.946) deleterious(0.01) deleterious(0.796) "HMMPfam_PCI,HMMSmart_SM00088,superfamily_""Winged helix"" DNA-binding domain" COPS3 8533 genome.wustl.edu 37 17 17165365 17165365 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003653.2 -1 reviewed p.K226T 1.000 104 0% 75 32% 19 57.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL COPS3 8533 genome.wustl.edu 37 17 17179364 17179364 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003653.2 -1 reviewed p.G57D 1.000 207 0% 279 29% 28 67.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RAI1 10743 genome.wustl.edu 37 17 17701173 17701173 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030665.3 +1 reviewed p.S1637 0.761 47 0% 58 10.3% 34 5.8% - - - NULL TOP3A 7156 genome.wustl.edu 37 17 18181298 18181298 + Missense_Mutation SNP C C T rs144665877 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004618.3 -1 reviewed p.G840R 0.000 46 0% 49 24.5% 4 0% possibly_damaging(0.502) tolerated(0.26) neutral(0.202) HMMPfam_zf-GRF SHMT1 6470 genome.wustl.edu 37 17 18232204 18232204 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004169.3 -1 reviewed p.D438N 0.002 28 0% 33 18.2% 29 31% benign(0) tolerated(0.21) neutral(0.044) superfamily_PLP-dependent transferases LOC645139 645139 genome.wustl.edu 37 17 18554445 18554445 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_928169.3 +1 model p.E353* 1.000 99 0% 101 27.7% 21 0% - - - HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat ZNF286B 729288 genome.wustl.edu 37 17 18565679 18565679 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145045.1 -1 validated p.E380D 1.000 107 0% 133 20.3% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF286B 729288 genome.wustl.edu 37 17 18566096 18566096 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145045.1 -1 validated p.K241 1.000 110 0% 141 27% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ENSG00000248683 0 genome.wustl.edu 37 17 18574862 18574862 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000507743 +1 novel NULL 1.000 136 0% 122 18.9% 2 0% - - - - FBXW10 10517 genome.wustl.edu 37 17 18661636 18661636 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031456.3 +1 validated p.V417 1.000 346 0.3% 361 18.6% 0 - - - - superfamily_WD40 repeat-like FBXW10 10517 genome.wustl.edu 37 17 18673250 18673250 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031456.3 +1 validated p.D620N 0.916 217 0% 254 28.7% 0 - benign(0.143) tolerated(0.49) neutral(0.023) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 FBXW10 10517 genome.wustl.edu 37 17 18675854 18675854 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031456.3 +1 validated p.L712 0.000 291 0% 337 27.9% 0 - - - - NULL FAM18B1 51030 genome.wustl.edu 37 17 18694260 18694260 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016078.4 +1 predicted p.I49 0.772 519 0% 550 22.5% 9 0% - - - HMMPfam_DUF846 RNF112 7732 genome.wustl.edu 37 17 19316902 19316902 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007148.4 +1 reviewed p.L245M 1.000 22 0% 16 25% 1 0% - - - HMMPfam_GBP,superfamily_SSF52540 ALDH3A1 218 genome.wustl.edu 37 17 19646609 19646609 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000333946 -1 known p.S27* 1.000 62 0% 32 18.8% 19 31.5% - - - NULL ULK2 9706 genome.wustl.edu 37 17 19720126 19720126 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142610.1 -1 reviewed p.K344N 1.000 278 0% 248 16.5% 2 50% probably_damaging(0.999) tolerated(0.29) deleterious(0.519) superfamily_Protein kinase-like (PK-like) AKAP10 11216 genome.wustl.edu 37 17 19827766 19827766 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007202.2 -1 reviewed p.A569V 1.000 75 0% 93 33.3% 1 0% possibly_damaging(0.452) tolerated(0.16) neutral(0.207) NULL SPECC1 92521 genome.wustl.edu 37 17 20108622 20108622 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001033553.1 +1 validated p.T420 0.000 184 0% 190 21.6% 5 60% - - - NULL CCDC144C 348254 genome.wustl.edu 37 17 20243609 20243609 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000425519 +1 known p.E469* 0.998 280 0% 230 13% 0 - - - - NULL TMEM11 8834 genome.wustl.edu 37 17 21101654 21101654 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003876.2 -1 validated p.E188K 1.000 75 0% 49 10.2% 133 10.5% benign(0.002) tolerated(0.37) neutral(0.019) NULL LOC440419 440419 genome.wustl.edu 37 17 25758368 25758368 + RNA SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_040504.2 +1 model NULL 0.010 24 0% 30 30% 0 - - - - - NOS2 4843 genome.wustl.edu 37 17 26101415 26101415 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000625.4 -1 reviewed p.Q448H 1.000 30 0% 26 30.8% 0 - benign(0.013) deleterious(0.01) neutral(0.406) HMMPfam_NO_synthase,superfamily_Nitric oxide (NO) synthase oxygenase domain ENSG00000207844 0 genome.wustl.edu 37 17 26603556 26603556 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000385109 -1 novel NULL 0.796 29 0% 38 34.2% 0 - - - - - POLDIP2 26073 genome.wustl.edu 37 17 26679959 26679959 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015584.3 -1 reviewed p.L200I 1.000 19 0% 17 35.3% 26 34.6% - - - NULL SARM1 23098 genome.wustl.edu 37 17 26711462 26711462 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015077.2 +1 validated p.R392C 0.976 13 0% 39 28.2% 1 0% - - - NULL UNC119 9094 genome.wustl.edu 37 17 26874826 26874826 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005148.3 -1 reviewed p.R160H 1.000 77 0% 99 38.4% 26 15.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GMP_PDE_delta,superfamily_E set domains ENSG00000167524 0 genome.wustl.edu 37 17 26939298 26939298 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000301037 -1 known p.E212K 1.000 161 0% 197 26.9% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KIAA0100 9703 genome.wustl.edu 37 17 26961567 26961567 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014680.2 -1 validated p.R1013Q 1.000 108 0% 149 33.6% 6 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SUPT6H 6830 genome.wustl.edu 37 17 27010367 27010367 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003170.3 +1 validated p.L654I 1.000 109 0% 99 19.2% 0 - probably_damaging(0.964) tolerated(0.29) neutral(0.435) NULL SUPT6H 6830 genome.wustl.edu 37 17 27016529 27016529 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003170.3 +1 validated p.R1098* 0.987 119 0% 82 11% 5 20% - - - NULL ERAL1 26284 genome.wustl.edu 37 17 27183340 27183340 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000412138 +1 known p.Y20C 0.994 250 0% 331 25.4% 32 25% unknown(0) - - NULL PHF12 57649 genome.wustl.edu 37 17 27239661 27239661 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001033561.1 -1 validated p.R643I 1.000 45 0% 41 26.8% 25 64% probably_damaging(0.962) deleterious(0.01) deleterious(0.810) NULL PHF12 57649 genome.wustl.edu 37 17 27244316 27244316 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001033561.1 -1 validated p.R374I 1.000 99 0% 92 23.9% 3 66.6% possibly_damaging(0.852) deleterious(0) deleterious(0.772) NULL NUFIP2 57532 genome.wustl.edu 37 17 27620964 27620964 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020772.2 -1 validated p.F38L 1.000 39 0% 43 25.6% 8 0% unknown(0) tolerated(0.39) - NULL GIT1 28964 genome.wustl.edu 37 17 27901774 27901774 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001085454.1 -1 validated p.I753 0.996 9 0.000 14 0.357 71 28.1% - - - NULL SSH2 85464 genome.wustl.edu 37 17 27959366 27959366 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033389.2 -1 reviewed p.S922* 0.002 253 0% 369 27.1% 1 0% - - - NULL EFCAB5 374786 genome.wustl.edu 37 17 28414080 28414080 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198529.3 +1 validated e19-1 0.998 226 0% 178 24.7% 0 - - - - - SLC6A4 6532 genome.wustl.edu 37 17 28545857 28545857 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001045.4 -1 reviewed p.G146* 1.000 262 0% 248 20.2% 0 - - - - HMMPfam_SNF TMIGD1 388364 genome.wustl.edu 37 17 28645840 28645840 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_206832.1 -1 provisional p.K244N 0.019 180 0% 127 34.6% 0 - benign(0.001) tolerated(0.28) neutral(0.032) NULL TMIGD1 388364 genome.wustl.edu 37 17 28651988 28651988 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_206832.1 -1 provisional p.L162 0.030 295 0% 277 28.9% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ATAD5 79915 genome.wustl.edu 37 17 29162437 29162437 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024857.3 +1 provisional p.I446 0.307 166 0% 200 33% 0 - - - - NULL TEFM 79736 genome.wustl.edu 37 17 29226354 29226354 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024683.3 -1 validated p.D306N 0.550 173 0% 190 22.6% 3 0% benign(0.054) deleterious(0.02) neutral(0.387) superfamily_Ribonuclease H-like LOC646021 646021 genome.wustl.edu 37 17 29335205 29335205 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_933339.3 +1 model p.G30 1.000 107 0% 81 14.8% 1 0% - - - NULL NF1 4763 genome.wustl.edu 37 17 29587481 29587481 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042492.2 +1 reviewed p.R1509C 1.000 342 0% 260 25.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00323,superfamily_GTPase activation domain GAP NF1 4763 genome.wustl.edu 37 17 29592269 29592269 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042492.2 +1 reviewed p.E1583* 1.000 335 0% 294 30.6% 0 - - - - HMMSmart_SM00516 NF1 4763 genome.wustl.edu 37 17 29677227 29677227 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042492.2 +1 reviewed p.R2450* 1.000 204 0% 140 22.9% 2 50% - - - NULL SUZ12 23512 genome.wustl.edu 37 17 30302555 30302555 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015355.2 +1 reviewed p.N216H 1.000 120 0% 154 21.4% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SUZ12 23512 genome.wustl.edu 37 17 30315377 30315377 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015355.2 +1 reviewed p.T354 0.034 154 0% 190 23.7% 2 50% - - - NULL LRRC37B 114659 genome.wustl.edu 37 17 30348822 30348822 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052888.2 +1 validated p.K219 0.000 217 0% 254 26.4% 0 - - - - NULL ZNF207 7756 genome.wustl.edu 37 17 30696759 30696759 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098507.1 +1 validated p.S489L 1.000 62 0% 62 27.4% 201 41.2% unknown(0) deleterious(0) - NULL CDK5R1 8851 genome.wustl.edu 37 17 30814748 30814748 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003885.2 +1 reviewed p.K37T 1.000 63 0% 32 28.1% 0 - possibly_damaging(0.647) tolerated(0.26) neutral(0.261) HMMPfam_CDK5_activator CDK5R1 8851 genome.wustl.edu 37 17 30814875 30814875 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003885.2 +1 reviewed p.T79 1.000 91 0% 61 36.1% 0 - - - - HMMPfam_CDK5_activator MYO1D 4642 genome.wustl.edu 37 17 31075981 31075981 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015194.1 -1 provisional p.R504Q 1.000 279 0% 248 28.6% 3 33.3% possibly_damaging(0.85) deleterious(0.04) deleterious(0.676) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ASIC2 40 genome.wustl.edu 37 17 31351000 31351000 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_183377.1 -1 reviewed p.L410I 1.000 358 0% 476 26.3% 0 - benign(0.003) tolerated(0.43) neutral(0.013) HMMPfam_ASC LIG3 3980 genome.wustl.edu 37 17 33318736 33318736 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013975.2 +1 reviewed p.S363Y 1.000 134 0% 164 26.8% 11 27.2% possibly_damaging(0.903) deleterious(0.01) deleterious(0.764) HMMPfam_DNA_ligase_A_N SLFN5 162394 genome.wustl.edu 37 17 33588077 33588077 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144975.3 +1 validated p.S367L 0.001 166 0% 199 18.1% 5 40% benign(0) tolerated(0.84) neutral(0.001) NULL SLFN5 162394 genome.wustl.edu 37 17 33591285 33591285 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144975.3 +1 validated p.N408H 0.006 142 0% 101 35.6% 2 0% benign(0.036) tolerated(0.28) neutral(0.034) NULL SLFN11 91607 genome.wustl.edu 37 17 33679519 33679519 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001104587.1 -1 validated p.V854 0.005 389 0% 356 24.2% 33 33.3% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SLFN13 146857 genome.wustl.edu 37 17 33768114 33768114 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144682.5 -1 validated p.R732C 0.001 577 0% 565 22.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases SLFN12L 100506736 genome.wustl.edu 37 17 33802344 33802344 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145027.1 -1 validated p.E484D 0.003 111 0.9% 113 28.3% 0 - possibly_damaging(0.892) tolerated(0.09) deleterious(0.648) NULL SLFN12L 100506736 genome.wustl.edu 37 17 33806394 33806394 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145027.1 -1 validated p.E308K 0.000 101 0% 97 23.7% 0 - possibly_damaging(0.832) tolerated(1) neutral(0.317) HMMPfam_AAA_4 PEX12 5193 genome.wustl.edu 37 17 33902830 33902830 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000286.2 -1 reviewed p.L351M 1.000 185 0% 132 20.5% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RING/U-box TAF15 8148 genome.wustl.edu 37 17 34169376 34169376 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139215.1 +1 reviewed p.E307* 1.000 34 0% 23 26.1% 128 2.3% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ENSG00000248695 0 genome.wustl.edu 37 17 34233356 34233356 + RNA SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000506920 -1 known NULL 0.003 15 0% 15 33.3% 0 - - - - - CCL4 6351 genome.wustl.edu 37 17 34431299 34431299 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002984.2 +1 validated p.M1L 1.000 571 0% 580 28.3% 100 0% possibly_damaging(0.526) deleterious(0) deleterious(0.622) NULL PIGW 284098 genome.wustl.edu 37 17 34893132 34893132 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178517.3 +1 validated p.F61S 0.188 161 0% 192 30.2% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL ACACA 31 genome.wustl.edu 37 17 35600461 35600461 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198834.1 -1 reviewed p.V919 1.000 361 0% 399 32.6% 0 - - - - HMMPfam_ACC_central ENSG00000224974 0 genome.wustl.edu 37 17 36214825 36214825 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000432091 -1 known p.I24 1.000 61 0% 66 24.2% 0 - - - - HMMPfam_14-3-3,HMMSmart_14_3_3,superfamily_14-3-3 GPR179 440435 genome.wustl.edu 37 17 36482808 36482808 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004334.2 -1 validated p.G2215E 0.251 180 0% 307 30.9% 0 - benign(0.064) deleterious(0.03) neutral(0.368) NULL GPR179 440435 genome.wustl.edu 37 17 36484352 36484352 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004334.2 -1 validated p.G1700 0.000 113 0% 193 39.4% 0 - - - - NULL SRCIN1 80725 genome.wustl.edu 37 17 36708269 36708269 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025248.2 -1 validated p.F860 0.917 33 0% 24 37.5% 0 - - - - NULL FBXO47 494188 genome.wustl.edu 37 17 37113491 37113491 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008777.2 -1 validated p.R123K 1.000 139 0% 181 29.8% 0 - probably_damaging(0.999) tolerated(0.39) deleterious(0.506) NULL FLJ43826 342666 genome.wustl.edu 37 17 37188378 37188378 + RNA SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_040620.2 +1 model NULL 0.001 130 0% 208 32.7% 0 - - - - - CACNB1 782 genome.wustl.edu 37 17 37343761 37343761 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000723.3 -1 reviewed p.E129K 1.000 101 0% 163 23.3% 0 - benign(0.413) tolerated(0.1) neutral(0.420) HMMPfam_SH3_1,superfamily_SH3-domain FBXL20 84961 genome.wustl.edu 37 17 37431266 37431266 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032875.2 -1 validated p.D262Y 1.000 154 0% 140 23.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00367,superfamily_RNI-like PPP1R1B 84152 genome.wustl.edu 37 17 37790282 37790282 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032192.2 +1 provisional p.E130* 0.780 106 0% 159 28.9% 22 4.5% - - - HMMPfam_DARPP-32 IKZF3 22806 genome.wustl.edu 37 17 37922718 37922718 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012481.3 -1 reviewed p.N285K 0.369 58 0% 64 23.4% 1 0% benign(0.004) tolerated(0.22) neutral(0.042) NULL IKZF3 22806 genome.wustl.edu 37 17 37949076 37949076 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012481.3 -1 reviewed p.E92* 1.000 244 0% 302 25.8% 0 - - - - NULL ZPBP2 124626 genome.wustl.edu 37 17 38027874 38027874 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_199321.2 +1 validated p.V134 0.153 145 0% 89 29.2% 0 - - - - HMMPfam_Sp38 MED24 9862 genome.wustl.edu 37 17 38178266 38178266 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000422942 -1 known p.E110K 0.015 49 0% 33 36.4% 175 35.4% - - - NULL TOP2A 7153 genome.wustl.edu 37 17 38546236 38546236 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001067.2 -1 reviewed p.S1483L 0.303 24 0% 40 25% 20 30% possibly_damaging(0.718) deleterious(0.04) deleterious(0.609) HMMPfam_DTHCT KRT222 125113 genome.wustl.edu 37 17 38816445 38816445 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152349.2 -1 validated p.E80D 1.000 232 0% 210 29% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Filament KRT28 162605 genome.wustl.edu 37 17 38950166 38950166 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181535.3 -1 reviewed p.L371 0.016 176 0% 252 20.2% 0 - - - - HMMPfam_Filament TMEM99 147184 genome.wustl.edu 37 17 38991322 38991322 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145274.2 +1 validated p.K185T 0.003 365 0% 469 27.5% 1 100% benign(0.158) - - NULL KRT12 3859 genome.wustl.edu 37 17 39023060 39023060 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000223.3 -1 reviewed p.E127* 1.000 422 0% 353 31.2% 0 - - - - HMMPfam_Filament KRT39 390792 genome.wustl.edu 37 17 39118805 39118805 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_213656.3 -1 reviewed p.S240Y 0.969 507 0% 368 24.5% 0 - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_Filament KRT40 125115 genome.wustl.edu 37 17 39135094 39135094 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182497.3 -1 reviewed p.I386 0.823 129 0% 124 24.2% 0 - - - - HMMPfam_Filament KRTAP4-3 85290 genome.wustl.edu 37 17 39323847 39323847 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033187.1 -1 validated p.S193F 0.007 39 0% 51 19.6% 0 - unknown(0) deleterious(0.01) - NULL KRT34 3885 genome.wustl.edu 37 17 39535727 39535727 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021013.3 -1 reviewed p.E294K 0.944 140 0% 176 29.5% 0 - possibly_damaging(0.753) tolerated(0.05) deleterious(0.622) HMMPfam_Filament KRT37 8688 genome.wustl.edu 37 17 39577666 39577666 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003770.4 -1 reviewed p.E398 0.981 112 0% 121 33.9% 0 - - - - HMMPfam_Filament KRT37 8688 genome.wustl.edu 37 17 39577825 39577825 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003770.4 -1 reviewed p.Q345H 0.992 66 0% 93 29% 0 - possibly_damaging(0.918) deleterious(0) deleterious(0.813) HMMPfam_Filament KRT38 8687 genome.wustl.edu 37 17 39596473 39596473 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006771.3 -1 reviewed p.N172T 0.974 101 0% 81 25.9% 0 - possibly_damaging(0.911) deleterious(0.01) deleterious(0.768) HMMPfam_Filament KRT35 3886 genome.wustl.edu 37 17 39634660 39634660 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002280.4 -1 reviewed p.R318C 1.000 138 0% 111 29.7% 0 - probably_damaging(0.963) deleterious(0.04) deleterious(0.754) superfamily_Prefoldin,HMMPfam_Filament KRT9 3857 genome.wustl.edu 37 17 39724606 39724606 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000226.3 -1 reviewed p.T401M 0.055 97 0% 144 29.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament EIF1 10209 genome.wustl.edu 37 17 39846099 39846099 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005801.3 +1 validated p.R34I 1.000 100 0% 74 20.3% 336 30.9% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_SUI1,superfamily_eIF1-like KLHL10 317719 genome.wustl.edu 37 17 40004386 40004386 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152467.3 +1 validated p.D552N 0.832 147 0% 168 30.4% 0 - benign(0.089) tolerated(1) neutral(0.006) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central ACLY 47 genome.wustl.edu 37 17 40061039 40061039 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001096.2 -1 reviewed p.K336 1.000 58 0% 79 25.3% 27 44.4% - - - superfamily_CoA_ligase KCNH4 23415 genome.wustl.edu 37 17 40330466 40330466 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012285.2 -1 reviewed p.M114L 1.000 67 0% 32 37.5% 0 - benign(0.039) deleterious(0.01) neutral(0.408) HMMSmart_PAC,HMMPfam_PAS,superfamily_SSF55785 PLEKHH3 79990 genome.wustl.edu 37 17 40821630 40821630 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024927.4 -1 validated p.R675W 0.995 13 0% 11 45.5% 55 50.9% benign(0.119) - - NULL EZH1 2145 genome.wustl.edu 37 17 40870044 40870044 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001991.3 -1 validated p.E325* 1.000 56 0% 71 19.7% 0 - - - - NULL WNK4 65266 genome.wustl.edu 37 17 40934883 40934883 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032387.4 +1 reviewed p.S242 0.026 44 0% 49 18.4% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase VAT1 10493 genome.wustl.edu 37 17 41170655 41170655 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006373.3 -1 validated p.F183 0.989 33 0% 31 16.1% 101 17.8% - - - superfamily_GroES-like,superfamily_NAD(P)-binding Rossmann-fold domains NBR2 10230 genome.wustl.edu 37 17 41297074 41297074 + RNA SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NR_003108.1 +1 reviewed NULL 0.953 39 0% 46 23.9% 2 50% - - - - DHX8 1659 genome.wustl.edu 37 17 41569623 41569623 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004941.1 +1 reviewed p.A156T 0.998 62 0% 66 28.8% 1 0% unknown(0) tolerated(0.57) - NULL MEOX1 4222 genome.wustl.edu 37 17 41738738 41738738 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004527.3 -1 reviewed p.A55 0.346 19 0% 19 21.1% 0 - unknown(0) - - NULL C17orf53 78995 genome.wustl.edu 37 17 42232678 42232678 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024032.3 +1 validated p.R558* 0.955 106 0% 187 28.9% 9 22.2% - - - NULL ASB16 92591 genome.wustl.edu 37 17 42248388 42248388 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080863.4 +1 reviewed p.F77 1.000 19 0% 18 44.4% 0 - - - - superfamily_Ankyrin repeat UBTF 7343 genome.wustl.edu 37 17 42290648 42290648 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014233.2 -1 validated p.M159I 1.000 49 0% 60 26.7% 5 0% benign(0.104) tolerated(0.17) neutral(0.067) HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box SLC4A1 6521 genome.wustl.edu 37 17 42335838 42335838 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000342.3 -1 reviewed p.R344* 0.812 65 0% 72 27.8% 0 - - - - superfamily_PTrfase/Anion_transptr ITGA2B 3674 genome.wustl.edu 37 17 42453552 42453552 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000419.3 -1 reviewed p.G783 0.998 68 0% 90 33.3% 0 - - - - HMMPfam_Integrin_alpha2,superfamily_Integrin domains FZD2 2535 genome.wustl.edu 37 17 42636381 42636381 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001466.2 +1 reviewed p.R442H 1.000 26 0% 46 17.4% 40 37.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Frizzled GFAP 2670 genome.wustl.edu 37 17 42990720 42990720 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002055.3 -1 reviewed p.A233T 0.998 75 0% 79 29.1% 0 - benign(0.049) tolerated(0.07) neutral(0.322) HMMPfam_Filament KIF18B 146909 genome.wustl.edu 37 17 43012651 43012651 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080443.1 -1 provisional p.F149 0.024 20 0% 25 32% 0 - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases FMNL1 752 genome.wustl.edu 37 17 43321221 43321221 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005892.3 +1 reviewed p.E759 0.799 38 0% 28 32.1% 21 4.7% - - - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) MAP3K14 9020 genome.wustl.edu 37 17 43364301 43364301 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000344686 -1 known p.G216 0.945 31 0% 54 29.6% 1 0% - - - NULL PLEKHM1 9842 genome.wustl.edu 37 17 43522933 43522933 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014798.2 -1 reviewed p.R914W 0.979 70 0% 73 35.6% 12 33.3% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL CRHR1 1394 genome.wustl.edu 37 17 43884377 43884377 + Missense_Mutation SNP C C G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145146.1 +1 reviewed p.A12G 1.000 42 0% 71 32.4% 0 - probably_damaging(0.965) deleterious(0) deleterious(0.851) superfamily_Hormone receptor domain (HRM Pfam 02793) SPPL2C 162540 genome.wustl.edu 37 17 43923272 43923272 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175882.2 +1 validated p.V334M 0.260 75 0% 46 17.4% 0 - benign(0.355) tolerated(0.06) neutral(0.435) HMMSmart_SM00730,HMMPfam_Peptidase_A22B SPPL2C 162540 genome.wustl.edu 37 17 43924216 43924216 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175882.2 +1 validated p.G648 0.606 43 0% 38 26.3% 0 - - - - NULL MAPT 4137 genome.wustl.edu 37 17 44101463 44101463 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001123066.3 +1 validated p.D753N 1.000 83 0% 89 10.1% 2 0% benign(0) tolerated(1) - NULL CDC27 996 genome.wustl.edu 37 17 45216112 45216112 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001114091.1 -1 reviewed p.S572L 1.000 88 0% 107 31.8% 3 33.3% possibly_damaging(0.47) deleterious(0) deleterious(0.600) superfamily_TPR-like ITGB3 3690 genome.wustl.edu 37 17 45384956 45384956 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000212.2 +1 reviewed p.E752* 1.000 99 0% 119 28.6% 5 0% - - - HMMPfam_Integrin_b_cyt KPNB1 3837 genome.wustl.edu 37 17 45730222 45730222 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000290158 +1 known p.R88* 1.000 71 0% 83 24.1% 15 0% - - - HMMPfam_IBN_N,superfamily_ARM repeat KPNB1 3837 genome.wustl.edu 37 17 45755420 45755420 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000290158 +1 known p.N704 0.994 252 0% 350 30% 39 64.1% - - - superfamily_ARM repeat SKAP1 8631 genome.wustl.edu 37 17 46262141 46262141 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003726.3 -1 reviewed p.D171Y 1.000 309 0% 427 31.6% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like HOXB13 10481 genome.wustl.edu 37 17 46805538 46805538 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006361.5 -1 reviewed p.M140V 0.998 90 0% 80 21.2% 0 - benign(0) tolerated(1) - NULL TTLL6 284076 genome.wustl.edu 37 17 46862321 46862321 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130918.1 -1 validated p.K668N 0.009 107 0% 165 24.8% 0 - benign(0.044) deleterious(0) neutral(0.447) NULL UBE2Z 65264 genome.wustl.edu 37 17 47004424 47004424 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023079.3 +1 validated p.E331D 0.999 47 0% 79 25.3% 16 25% possibly_damaging(0.941) tolerated(0.22) neutral(0.428) NULL IGF2BP1 10642 genome.wustl.edu 37 17 47119664 47119664 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006546.3 +1 reviewed p.E334D 1.000 199 0% 199 22.6% 0 - benign(0.001) tolerated(0.26) neutral(0.034) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) B4GALNT2 124872 genome.wustl.edu 37 17 47241534 47241534 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153446.2 +1 validated p.R344Q 0.989 298 0% 367 31.3% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases ZNF652 22834 genome.wustl.edu 37 17 47390127 47390127 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145365.1 -1 validated p.K327N 1.000 187 0% 147 38.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_C2H2 and C2HC zinc fingers LOC100131693 100131693 genome.wustl.edu 37 17 47502210 47502210 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001726582.1 -1 model p.N25K 1.000 222 0% 375 27.7% 1 0% - - - HMMPfam_IF4E,superfamily_Translation initiation factor eIF4e NGFR 4804 genome.wustl.edu 37 17 47588002 47588002 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002507.3 +1 reviewed p.L266R 0.934 71 0% 53 26.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NXPH3 11248 genome.wustl.edu 37 17 47656364 47656364 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007225.2 +1 validated p.A154V 0.995 46 0% 55 25.5% 0 - benign(0.036) tolerated(0.28) neutral(0.034) HMMPfam_Neurexophilin SPOP 8405 genome.wustl.edu 37 17 47696405 47696405 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001007226.1 -1 reviewed p.D140N 1.000 353 0% 337 25.8% 6 33.3% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like FAM117A 81558 genome.wustl.edu 37 17 47799863 47799863 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030802.3 -1 validated p.E154* 1.000 32 0% 37 32.4% 7 0% - - - NULL TOB1 10140 genome.wustl.edu 37 17 48941243 48941243 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005749.2 -1 reviewed p.P46S 1.000 208 0% 165 27.9% 9 22.2% possibly_damaging(0.877) deleterious(0) deleterious(0.786) HMMPfam_BTG,HMMSmart_SM00099,PatternScan_BTG_1 SPAG9 9043 genome.wustl.edu 37 17 49072812 49072812 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130528.2 -1 reviewed p.S684* 1.000 97 0% 95 29.5% 1 0% - - - NULL MMD 23531 genome.wustl.edu 37 17 53499045 53499045 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012329.2 -1 reviewed p.K4N 1.000 11 0% 15 26.7% 3 0% benign(0) tolerated(0.11) neutral(0.272) NULL COIL 8161 genome.wustl.edu 37 17 55028112 55028112 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004645.2 -1 reviewed p.R164I 0.143 255 0% 275 23.3% 0 - probably_damaging(0.991) tolerated(0.09) deleterious(0.740) NULL SCPEP1 59342 genome.wustl.edu 37 17 55065066 55065066 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021626.2 +1 validated p.A109V 1.000 85 0% 136 25.7% 12 50% possibly_damaging(0.498) tolerated(0.16) neutral(0.226) HMMPfam_Peptidase_S10,superfamily_alpha/beta-Hydrolases MRPS23 51649 genome.wustl.edu 37 17 55917165 55917165 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016070.2 -1 reviewed p.S184 0.000 198 0% 319 35.1% 66 36.3% - - - NULL OR4D1 26689 genome.wustl.edu 37 17 56232705 56232705 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012374.1 +1 provisional p.R64Q 0.972 441 0% 510 29.2% 0 - benign(0.253) deleterious(0.04) neutral(0.375) HMMPfam_7tm_1,superfamily_SSF81321 OR4D1 26689 genome.wustl.edu 37 17 56232784 56232784 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012374.1 +1 provisional p.K90N 0.004 349 0% 408 27.9% 0 - benign(0.017) deleterious(0.04) neutral(0.349) HMMPfam_7tm_1,superfamily_SSF81321 MPO 4353 genome.wustl.edu 37 17 56350806 56350806 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000250.1 -1 reviewed p.V530 1.000 59 0% 47 34% 2 0% - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases MPO 4353 genome.wustl.edu 37 17 56355384 56355384 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000250.1 -1 reviewed p.F336 0.812 50 0% 65 35.4% 0 - - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases BZRAP1 9256 genome.wustl.edu 37 17 56386646 56386646 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004758.2 -1 validated p.L1329 0.723 46 0% 27 33.3% 0 - - - - NULL C17orf47 284083 genome.wustl.edu 37 17 56619994 56619994 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001038704.1 -1 predicted p.F518L 1.000 111 0% 110 30% 0 - possibly_damaging(0.86) - - NULL C17orf47 284083 genome.wustl.edu 37 17 56621035 56621035 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001038704.1 -1 predicted p.Q171H 0.000 147 0% 182 28% 0 - probably_damaging(0.978) - - NULL TEX14 56155 genome.wustl.edu 37 17 56642288 56642288 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198393.2 -1 reviewed p.E1376* 0.976 187 0% 176 26.7% 0 - - - - NULL SMG8 55181 genome.wustl.edu 37 17 57289153 57289153 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018149.6 +1 validated p.H581N 1.000 69 0% 71 33.8% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_DUF2146 GDPD1 284161 genome.wustl.edu 37 17 57335176 57335176 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182569.3 +1 validated p.E184G 1.000 83 0% 99 25.3% 0 - benign(0.12) tolerated(0.31) neutral(0.036) HMMPfam_GDPD,superfamily_PLC-like phosphodiesterases GDPD1 284161 genome.wustl.edu 37 17 57344523 57344523 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182569.3 +1 validated p.S233Y 1.000 131 0% 168 30.4% 1 0% probably_damaging(0.953) deleterious(0.02) deleterious(0.780) HMMPfam_GDPD,superfamily_PLC-like phosphodiesterases CLTC 1213 genome.wustl.edu 37 17 57760295 57760295 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004859.3 +1 reviewed p.E1265* 1.000 213 0% 157 22.9% 48 2% - - - HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_ARM repeat VMP1 81671 genome.wustl.edu 37 17 57842453 57842453 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030938.3 +1 validated p.S179Y 1.000 140 0% 148 24.3% 16 12.5% possibly_damaging(0.903) deleterious(0.04) deleterious(0.707) NULL USP32 84669 genome.wustl.edu 37 17 58258686 58258686 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032582.3 -1 validated p.S1516L 1.000 137 0% 122 36.1% 18 33.3% probably_damaging(0.978) tolerated(0.13) deleterious(0.673) HMMPfam_UCH,PatternScan_UCH_2_2,superfamily_SSF54001 PPM1D 8493 genome.wustl.edu 37 17 58725289 58725289 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003620.2 +1 reviewed p.F288C 1.000 227 0% 291 23.4% 7 57.1% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C PPM1D 8493 genome.wustl.edu 37 17 58740668 58740668 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003620.2 +1 reviewed p.E525* 1.000 183 0% 227 36.1% 0 - - - - NULL INTS2 57508 genome.wustl.edu 37 17 59984791 59984791 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020748.2 -1 validated p.L395V 1.000 46 0% 38 13.2% 0 - possibly_damaging(0.767) tolerated(0.09) deleterious(0.581) NULL INTS2 57508 genome.wustl.edu 37 17 60003726 60003726 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020748.2 -1 validated p.E102* 1.000 139 0% 181 20.4% 0 - - - - NULL MED13 9969 genome.wustl.edu 37 17 60033759 60033759 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005121.2 -1 reviewed p.S1855L 1.000 193 0% 164 39% 0 - benign(0.037) tolerated(0.09) neutral(0.298) HMMPfam_TRAP_240kDa ENSG00000188755 0 genome.wustl.edu 37 17 60351200 60351200 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000339120 -1 known p.F39V 0.062 118 0% 96 10.4% 0 - benign(0) tolerated(0.53) neutral(0.007) NULL EFCAB3 146779 genome.wustl.edu 37 17 60472539 60472539 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001144933.1 +1 validated p.E212* 0.988 403 0% 375 25.1% 0 - - - - NULL TLK2 11011 genome.wustl.edu 37 17 60631042 60631042 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006852.3 +1 validated p.K216Q 1.000 194 0% 245 31.8% 0 - benign(0.176) tolerated(0.44) neutral(0.029) NULL MARCH10 162333 genome.wustl.edu 37 17 60813387 60813387 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001100875.1 -1 validated p.D614 0.000 324 0% 423 17.3% 0 - - - - NULL KCNH6 81033 genome.wustl.edu 37 17 61619699 61619699 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030779.2 +1 reviewed p.K684N 1.000 10 0% 21 42.9% 0 - probably_damaging(0.979) tolerated(0.29) neutral(0.451) HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like STRADA 92335 genome.wustl.edu 37 17 61781013 61781013 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001003787.2 -1 reviewed p.I414 1.000 40 0% 32 31.2% 12 25% - - - NULL DDX42 11325 genome.wustl.edu 37 17 61888463 61888463 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007372.2 +1 reviewed p.K443T 1.000 109 0% 140 25% 6 33.3% possibly_damaging(0.679) deleterious(0.01) deleterious(0.647) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases FTSJ3 117246 genome.wustl.edu 37 17 61898226 61898226 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017647.3 -1 reviewed p.R682I 1.000 212 0% 252 18.7% 23 43.4% possibly_damaging(0.8) deleterious(0) deleterious(0.746) HMMPfam_Spb1_C CSH1 1442 genome.wustl.edu 37 17 61972770 61972770 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022640.2 -1 reviewed p.E173D 0.000 122 0% 172 21.5% 0 - benign(0.035) tolerated(0.46) neutral(0.014) NULL SCN4A 6329 genome.wustl.edu 37 17 62036709 62036709 + Silent SNP G G A rs181494727 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000334.4 -1 reviewed p.F645 0.995 66 0% 52 17.3% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TEX2 55852 genome.wustl.edu 37 17 62265639 62265639 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018469.3 -1 validated p.K778 0.997 78 0% 72 30.6% 13 38.4% - - - NULL CEP95 90799 genome.wustl.edu 37 17 62530844 62530844 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138363.1 +1 provisional p.R687W 1.000 61 0% 51 19.6% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AXIN2 8313 genome.wustl.edu 37 17 63526198 63526198 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004655.3 -1 reviewed p.D810N 1.000 269 0% 266 32% 19 68.4% possibly_damaging(0.944) tolerated(0.09) deleterious(0.685) HMMPfam_DIX,HMMSmart_SM00021 CEP112 201134 genome.wustl.edu 37 17 64066094 64066094 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145036.3 -1 validated p.E265V 1.000 178 0% 121 33.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRKCA 5578 genome.wustl.edu 37 17 64685162 64685162 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002737.2 +1 reviewed p.F305 1.000 97 0% 86 25.6% 3 66.6% - - - NULL HELZ 9931 genome.wustl.edu 37 17 65110475 65110475 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014877.3 -1 validated p.R1295* 1.000 317 0% 220 20.9% 2 0% - - - NULL BPTF 2186 genome.wustl.edu 37 17 65907293 65907293 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182641.3 +1 reviewed p.S1098Y 0.618 144 0% 135 29.6% 0 - possibly_damaging(0.855) deleterious(0.01) deleterious(0.736) NULL BPTF 2186 genome.wustl.edu 37 17 65907430 65907430 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182641.3 +1 reviewed p.D1144Y 0.272 118 0% 132 18.2% 0 - possibly_damaging(0.745) deleterious(0.01) deleterious(0.679) NULL BPTF 2186 genome.wustl.edu 37 17 65955683 65955683 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182641.3 +1 reviewed p.I2651M 0.998 117 0% 138 32.6% 3 66.6% possibly_damaging(0.765) tolerated(0.29) neutral(0.313) NULL BPTF 2186 genome.wustl.edu 37 17 65972027 65972027 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182641.3 +1 reviewed p.V2893 1.000 107 0% 88 22.7% 6 33.3% - - - HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain SLC16A6 9120 genome.wustl.edu 37 17 66267275 66267275 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004694.4 -1 validated p.F342 0.009 97 0% 100 35% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC16A6 9120 genome.wustl.edu 37 17 66274245 66274245 + Missense_Mutation SNP C C G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004694.4 -1 validated p.V73L 1.000 72 0% 75 34.7% 0 - benign(0.097) tolerated(0.11) neutral(0.279) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC16A6 9120 genome.wustl.edu 37 17 66274446 66274446 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004694.4 -1 validated p.L6V 0.001 105 0% 111 26.1% 0 - benign(0) tolerated(0.39) neutral(0.016) superfamily_MFS_gen_substrate_transporter ARSG 22901 genome.wustl.edu 37 17 66347801 66347801 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014960.3 +1 validated p.A180 0.003 102 0% 95 31.6% 2 0% - - - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core WIPI1 55062 genome.wustl.edu 37 17 66447029 66447029 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017983.5 -1 validated p.P58L 0.998 45 0% 47 21.3% 30 56.6% benign(0.422) deleterious(0.02) deleterious(0.520) superfamily_WD40 repeat-like FAM20A 54757 genome.wustl.edu 37 17 66548040 66548040 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017565.3 -1 validated p.F231 0.918 27 0% 14 28.6% 2 0% - - - NULL ABCA8 10351 genome.wustl.edu 37 17 66878020 66878020 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007168.2 -1 reviewed p.S1270 0.998 242 0% 186 20.4% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA9 10350 genome.wustl.edu 37 17 66989221 66989221 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080283.3 -1 reviewed p.S1187Y 0.015 205 0% 212 36.8% 0 - benign(0.001) tolerated(0.26) neutral(0.034) NULL ABCA10 10349 genome.wustl.edu 37 17 67145057 67145057 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080282.3 -1 reviewed p.E1515* 1.000 242 0% 192 24% 0 - - - - NULL ABCA10 10349 genome.wustl.edu 37 17 67160293 67160293 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080282.3 -1 reviewed p.L1095 0.000 210 0% 167 24% 0 - - - - NULL ABCA10 10349 genome.wustl.edu 37 17 67189275 67189275 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080282.3 -1 reviewed p.M586V 1.000 236 0% 253 32.8% 0 - possibly_damaging(0.944) deleterious(0.01) deleterious(0.794) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA5 23461 genome.wustl.edu 37 17 67300808 67300808 + Splice_Site SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018672.3 -1 reviewed e6+2 1.000 102 0% 72 31.9% 0 - - - - - ABCA5 23461 genome.wustl.edu 37 17 67310467 67310467 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018672.3 -1 reviewed p.K30N 0.974 208 0% 153 24.8% 0 - probably_damaging(0.956) deleterious(0) deleterious(0.844) NULL MAP2K6 5608 genome.wustl.edu 37 17 67521049 67521049 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002758.3 +1 reviewed p.R224I 1.000 128 0% 101 30.7% 22 45.4% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SDK2 54549 genome.wustl.edu 37 17 71334547 71334547 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000316893 -1 known p.R2166C 0.000 5 0.000 7 0.571 0 - unknown(0) - - NULL SDK2 54549 genome.wustl.edu 37 17 71418494 71418494 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001144952.1 -1 provisional p.R659 0.966 41 0% 57 10.5% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TTYH2 94015 genome.wustl.edu 37 17 72233435 72233435 + Silent SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032646.5 +1 reviewed p.V139 0.868 60 0% 60 25% 1 0% - - - HMMPfam_Tweety DNAI2 64446 genome.wustl.edu 37 17 72281206 72281206 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023036.4 +1 reviewed p.T71A 0.998 48 0% 44 40.9% 0 - benign(0.004) tolerated(0.25) neutral(0.037) NULL DNAI2 64446 genome.wustl.edu 37 17 72295872 72295872 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023036.4 +1 reviewed p.R247Q 0.992 23 0% 49 18.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_WD40 repeat-like DNAI2 64446 genome.wustl.edu 37 17 72301504 72301504 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023036.4 +1 reviewed p.K378N 1.000 47 0% 57 29.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 KIF19 124602 genome.wustl.edu 37 17 72324649 72324650 + Frame_Shift_Ins INS - - C rs11412158 byCluster;by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000440684 +1 known p.R320fs 0.000:0.000 - - - - - - - - - NULL GPR142 350383 genome.wustl.edu 37 17 72368371 72368371 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181790.1 +1 provisional p.R341W 0.069 26 0% 40 25% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_7tm_1,superfamily_SSF81321 CD300A 11314 genome.wustl.edu 37 17 72469988 72469988 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007261.2 +1 validated p.V118 0.000 126 0% 127 23.6% 13 0% - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin C17orf77 146723 genome.wustl.edu 37 17 72588425 72588425 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152460.2 +1 validated p.T80 0.000 155 0% 159 27% 0 - - - - NULL CD300LF 146722 genome.wustl.edu 37 17 72691300 72691300 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139018.3 -1 validated p.S270G 0.000 24 0% 39 30.8% 6 0% benign(0.103) tolerated(0.11) neutral(0.280) NULL TMEM104 54868 genome.wustl.edu 37 17 72791203 72791203 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017728.3 +1 validated p.L160 1.000 100 0% 78 26.9% 0 - - - - NULL GRIN2C 2905 genome.wustl.edu 37 17 72846012 72846012 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000835.3 -1 reviewed p.E518K 0.998 22 0% 40 32.5% 0 - benign(0.39) tolerated(0.09) neutral(0.421) HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II KCTD2 23510 genome.wustl.edu 37 17 73058280 73058280 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015353.1 +1 validated p.V234 0.998 49 0% 58 27.6% 3 33.3% - - - NULL ITGB4 3691 genome.wustl.edu 37 17 73732134 73732134 + Nonsense_Mutation SNP C C T rs121912462 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000213.3 +1 reviewed p.R554* 1.000 50 0% 85 17.6% 24 0% - - - HMMPfam_EGF_2,superfamily_EGF/Laminin PRPSAP1 5635 genome.wustl.edu 37 17 74307681 74307681 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002766.2 -1 validated p.R367I 1.000 57 0% 52 23.1% 14 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PRTase-like MFSD11 79157 genome.wustl.edu 37 17 74774367 74774367 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024311.2 +1 provisional p.S428Y 0.479 106 0.9% 93 34.4% 7 42.8% possibly_damaging(0.437) deleterious(0.02) deleterious(0.525) superfamily_MFS general substrate transporter DNAH17 8632 genome.wustl.edu 37 17 76567819 76567819 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000389840 -1 known p.T195 1.000 30 0% 37 40.5% 0 - - - - HMMPfam_DHC_N1 C1QTNF1 114897 genome.wustl.edu 37 17 77044092 77044092 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030968.2 +1 validated p.E256D 1.000 73 0% 91 28.6% 7 14.2% benign(0.012) tolerated(0.22) neutral(0.043) HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like EIF4A3 9775 genome.wustl.edu 37 17 78111286 78111286 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014740.3 -1 reviewed p.T294 0.031 40 0% 51 43.1% 131 39.6% - - - HMMSmart_HELICc,superfamily_SSF52540 RNF213 57674 genome.wustl.edu 37 17 78318916 78318916 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000508628 +1 known p.D2261Y 1.000 98 0% 85 17.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RNF213 57674 genome.wustl.edu 37 17 78320284 78320284 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000508628 +1 known p.D2717N 0.000 41 0% 51 31.4% 1 0% benign(0.013) tolerated(0.9) neutral(0.001) superfamily_P-loop containing nucleoside triphosphate hydrolases FN3K 64122 genome.wustl.edu 37 17 80698702 80698702 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022158.3 +1 validated p.E119D 0.986 39 0% 55 10.9% 75 9.3% benign(0.001) tolerated(0.19) neutral(0.050) superfamily_Kinase_like TBCD 6904 genome.wustl.edu 37 17 80851477 80851477 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005993.4 +1 reviewed p.G540S 1.000 21 0% 34 17.6% 26 42.3% benign(0.092) tolerated(0.42) neutral(0.021) superfamily_ARM repeat THOC1 9984 genome.wustl.edu 37 18 224148 224148 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005131.2 -1 validated p.R414W 0.759 35 0% 29 20.7% 4 50% benign(0.175) deleterious(0.01) neutral(0.422) NULL COLEC12 81035 genome.wustl.edu 37 18 348156 348156 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130386.2 -1 validated p.E63D 1.000 78 0% 103 24.3% 0 - unknown(0) - - NULL CLUL1 27098 genome.wustl.edu 37 18 627445 627445 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014410.4 +1 validated p.F258L 1.000 249 0% 218 30.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Clusterin,HMMSmart_CLa YES1 7525 genome.wustl.edu 37 18 736915 736915 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005433.3 -1 reviewed p.R395Q 1.000 179 0% 150 36.7% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like METTL4 64863 genome.wustl.edu 37 18 2539133 2539133 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022840.3 -1 validated p.D429Y 1.000 477 0% 405 20.7% 2 0% probably_damaging(0.964) deleterious(0.01) deleterious(0.812) HMMPfam_MT-A70 SMCHD1 23347 genome.wustl.edu 37 18 2697859 2697859 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015295.2 +1 validated p.K388Q 1.000 209 0% 150 24.7% 0 - probably_damaging(0.999) tolerated(0.29) deleterious(0.519) NULL LPIN2 9663 genome.wustl.edu 37 18 2951301 2951301 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014646.2 -1 reviewed p.F114L 1.000 92 0% 68 32.4% 0 - benign(0.001) tolerated(0.85) neutral(0.001) HMMPfam_Lipin_N MYOM1 8736 genome.wustl.edu 37 18 3164279 3164279 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003803.3 -1 reviewed p.R500* 1.000 36 0% 24 20.8% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin DLGAP1 9229 genome.wustl.edu 37 18 3502552 3502552 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004746.2 -1 provisional p.F888C 1.000 155 0% 80 35% 2 50% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_GKAP DLGAP1 9229 genome.wustl.edu 37 18 3814081 3814081 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004746.2 -1 provisional p.L384I 1.000 175 0% 243 21.8% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL EPB41L3 23136 genome.wustl.edu 37 18 5398065 5398065 + Silent SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012307.2 -1 provisional p.T809 1.000 460 0% 379 23.7% 0 - - - - NULL LAMA1 284217 genome.wustl.edu 37 18 6966239 6966239 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005559.2 -1 validated p.E2319D 1.000 56 0% 45 28.9% 0 - probably_damaging(0.991) tolerated(0.32) neutral(0.468) superfamily_Concanavalin A-like lectins/glucanases LRRC30 339291 genome.wustl.edu 37 18 7231781 7231781 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105581.1 +1 provisional p.I215 0.850 112 0.9% 98 23.5% 0 - - - - superfamily_SSF52058 PTPRM 5797 genome.wustl.edu 37 18 8143705 8143705 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105244.1 +1 reviewed p.I743S 0.999 314 0% 334 32% 1 0% benign(0.406) deleterious(0) deleterious(0.575) NULL ANKRD12 23253 genome.wustl.edu 37 18 9254250 9254250 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015208.3 +1 validated p.E329* 1.000 230 0% 237 28.7% 0 - - - - superfamily_Ankyrin repeat TXNDC2 84203 genome.wustl.edu 37 18 9887209 9887209 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098529.1 +1 validated p.E245* 0.000 467 0% 586 32.9% 0 - - - - NULL PIEZO2 63895 genome.wustl.edu 37 18 10671631 10671631 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000503781 -1 known p.R612* 0.963 139 0% 80 17.5% 0 - - - - NULL LOC729602 729602 genome.wustl.edu 37 18 11625742 11625742 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002344140.1 -1 model p.K68N 0.002 500 0% 542 26.9% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_NPIP SLMO1 10650 genome.wustl.edu 37 18 12421567 12421567 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142405.1 +1 validated p.Y77C 1.000 48 2.1% 63 28.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PRELI SLMO1 10650 genome.wustl.edu 37 18 12427292 12427292 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142405.1 +1 validated p.M145I 1.000 101 0% 165 24.2% 0 - benign(0.019) tolerated(0.27) neutral(0.035) HMMPfam_PRELI SEH1L 81929 genome.wustl.edu 37 18 12986964 12986964 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013437.1 +1 reviewed p.D392N 1.000 99 0% 126 35.7% 124 37% possibly_damaging(0.921) deleterious(0) deleterious(0.816) NULL SEH1L 81929 genome.wustl.edu 37 18 12987041 12987041 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013437.1 +1 reviewed p.E417D 1.000 107 0% 143 19.6% 27 18.5% possibly_damaging(0.653) deleterious(0) deleterious(0.674) NULL ZNF519 162655 genome.wustl.edu 37 18 14105065 14105065 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145287.3 -1 validated p.E492* 0.780 450 0% 450 29.1% 1 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF519 162655 genome.wustl.edu 37 18 14106058 14106058 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145287.3 -1 validated p.N161H 0.001 173 0% 152 32.9% 0 - benign(0.084) tolerated(0.14) neutral(0.256) NULL NF1P5 4768 genome.wustl.edu 37 18 14156216 14156216 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000418350 -1 known p.F94L 0.214 29 0% 33 27.3% 0 - - - - NULL LOC646359 646359 genome.wustl.edu 37 18 14377654 14377654 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_929288.3 -1 model p.S370Y 0.997 176 0% 165 18.2% 0 - - - - HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding LOC646359 646359 genome.wustl.edu 37 18 14377894 14377894 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_929288.3 -1 model p.S290Y 0.794 108 0% 102 25.5% 0 - - - - NULL ROCK1 6093 genome.wustl.edu 37 18 18608876 18608876 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005406.2 -1 reviewed p.D358N 1.000 271 0% 202 25.2% 1 100% benign(0.347) deleterious(0) deleterious(0.554) HMMSmart_S_TK_X,superfamily_Kinase_like,HMMPfam_Pkinase_C MIB1 57534 genome.wustl.edu 37 18 19399502 19399502 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020774.2 +1 validated p.R575H 1.000 423 0% 355 26.5% 4 25% benign(0.036) tolerated(0.6) neutral(0.006) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK MIB1 57534 genome.wustl.edu 37 18 19424149 19424149 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020774.2 +1 validated p.R716C 1.000 100 0% 119 28.6% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK CTAGE1 64693 genome.wustl.edu 37 18 19996610 19996610 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_172241.2 -1 validated p.E389K 0.004 463 0% 565 28% 0 - benign(0.003) tolerated(0.17) neutral(0.059) NULL CABLES1 91768 genome.wustl.edu 37 18 20774417 20774417 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001100619.2 +1 validated p.R308Q 1.000 37 0% 36 25% 3 33.3% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL NPC1 4864 genome.wustl.edu 37 18 21148836 21148836 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000271.4 -1 reviewed p.K138N 0.006 83 0% 88 12.5% 0 - benign(0.018) tolerated(0.47) neutral(0.011) NULL LAMA3 3909 genome.wustl.edu 37 18 21470011 21470011 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198129.1 +1 reviewed p.F1780L 0.979 97 0% 145 20.7% 1 100% benign(0.01) tolerated(0.71) neutral(0.002) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin TTC39C 125488 genome.wustl.edu 37 18 21705426 21705426 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135993.1 +1 validated p.A444 0.939 121 0% 176 33.5% 3 100% - - - HMMPfam_Deme6,superfamily_TPR-like CABYR 26256 genome.wustl.edu 37 18 21723370 21723370 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012189.2 +1 reviewed p.Q64H 0.320 42 0% 46 17.4% 0 - benign(0.066) deleterious(0) neutral(0.449) NULL CABYR 26256 genome.wustl.edu 37 18 21735699 21735699 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012189.2 +1 reviewed p.K78N 0.998 163 0% 132 30.3% 1 0% benign(0.382) deleterious(0) deleterious(0.567) NULL ZNF521 25925 genome.wustl.edu 37 18 22805776 22805776 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015461.2 -1 validated p.Q702H 1.000 371 0% 231 29% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF521 25925 genome.wustl.edu 37 18 22806343 22806343 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015461.2 -1 validated p.F513L 1.000 230 0% 175 26.9% 0 - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CDH2 1000 genome.wustl.edu 37 18 25565162 25565162 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001792.3 -1 reviewed p.L671I 1.000 76 0% 70 32.9% 3 100% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH2 1000 genome.wustl.edu 37 18 25565608 25565608 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001792.3 -1 reviewed p.S620* 1.000 184 0% 209 28.2% 1 0% - - - HMMPfam_Cadherin,superfamily_Cadherin-like DSC2 1824 genome.wustl.edu 37 18 28649015 28649015 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024422.3 -1 reviewed p.E785K 0.979 91 0% 110 30% 20 45% probably_damaging(0.987) deleterious(0.03) deleterious(0.801) NULL DSC1 1823 genome.wustl.edu 37 18 28719768 28719768 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024421.2 -1 reviewed p.E536* 1.000 125 0% 82 22% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSC1 1823 genome.wustl.edu 37 18 28720116 28720116 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024421.2 -1 reviewed p.E470A 0.997 182 0% 113 27.4% 0 - probably_damaging(0.997) deleterious(0.04) deleterious(0.815) HMMSmart_SM00112,superfamily_Cadherin-like DSG4 147409 genome.wustl.edu 37 18 28972226 28972226 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001134453.1 +1 reviewed p.L310I 1.000 111 0% 82 35.4% 0 - benign(0.005) tolerated(0.63) neutral(0.004) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DSG3 1830 genome.wustl.edu 37 18 29041210 29041210 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001944.2 +1 reviewed p.E278D 1.000 111 0% 101 25.7% 0 - probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_Cadherin,superfamily_Cadherin DSG3 1830 genome.wustl.edu 37 18 29055730 29055730 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001944.2 +1 reviewed p.F836C 1.000 173 0% 141 27.7% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL TRAPPC8 22878 genome.wustl.edu 37 18 29488744 29488744 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014939.3 -1 validated p.E365 1.000 102 0% 65 21.5% 0 - - - - NULL TRAPPC8 22878 genome.wustl.edu 37 18 29496337 29496337 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014939.3 -1 validated p.R172Q 1.000 142 0% 103 28.2% 1 100% benign(0.158) tolerated(1) neutral(0.014) NULL MEP1B 4225 genome.wustl.edu 37 18 29787227 29787227 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005925.2 +1 validated p.N187T 1.000 47 0% 59 27.1% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) "HMMPfam_Astacin,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" FAM59A 64762 genome.wustl.edu 37 18 29848074 29848074 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022751.1 -1 provisional p.G796 0.143 76 0% 59 23.7% 1 0% - - - NULL KLHL14 57565 genome.wustl.edu 37 18 30260506 30260506 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020805.1 -1 provisional p.R432M 1.000 86 0% 95 20% 8 25% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central KLHL14 57565 genome.wustl.edu 37 18 30275470 30275470 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020805.1 -1 provisional p.N372S 1.000 127 0% 107 26.2% 7 57.1% possibly_damaging(0.643) tolerated(0.16) neutral(0.285) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central C18orf34 374864 genome.wustl.edu 37 18 30672747 30672747 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105528.1 -1 validated p.T789N 0.000 154 0% 103 19.4% 0 - benign(0.331) tolerated(0.47) neutral(0.115) NULL C18orf34 374864 genome.wustl.edu 37 18 30873233 30873233 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105528.1 -1 validated p.S356A 0.000 156 0% 160 28.7% 0 - benign(0.062) tolerated(0.67) neutral(0.007) NULL C18orf34 374864 genome.wustl.edu 37 18 30926319 30926319 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105528.1 -1 validated p.R172C 0.216 184 0.5% 170 25.9% 0 - benign(0.19) deleterious(0.03) neutral(0.383) NULL ASXL3 80816 genome.wustl.edu 37 18 31263384 31263384 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030632.1 +1 provisional p.T244I 1.000 69 0% 43 27.9% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL ASXL3 80816 genome.wustl.edu 37 18 31312004 31312004 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030632.1 +1 provisional p.G318W 1.000 277 0% 315 11.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ASXL3 80816 genome.wustl.edu 37 18 31320115 31320115 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030632.1 +1 provisional p.F916S 0.929 111 0% 101 36.6% 0 - possibly_damaging(0.441) deleterious(0) deleterious(0.589) NULL NOL4 8715 genome.wustl.edu 37 18 31709925 31709925 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003787.3 -1 validated p.F108L 1.000 343 0% 448 27.2% 0 - possibly_damaging(0.458) deleterious(0) deleterious(0.595) NULL DTNA 1837 genome.wustl.edu 37 18 32418103 32418103 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001390.4 +1 reviewed p.A380 1.000 201 0% 162 29% 0 - - - - NULL DTNA 1837 genome.wustl.edu 37 18 32418758 32418758 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001390.4 +1 reviewed p.L408I 1.000 211 0% 248 29.8% 0 - possibly_damaging(0.887) tolerated(0.17) neutral(0.406) NULL DTNA 1837 genome.wustl.edu 37 18 32438299 32438299 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001390.4 +1 reviewed p.S501Y 1.000 102 0% 132 40.2% 0 - probably_damaging(0.974) deleterious(0.01) deleterious(0.822) NULL ZNF396 252884 genome.wustl.edu 37 18 32948410 32948410 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145756.2 -1 validated e4-1 0.020 139 0% 93 24.7% 0 - - - - - GALNT1 2589 genome.wustl.edu 37 18 33234695 33234695 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020474.3 +1 reviewed p.F23 1.000 73 0% 82 9.8% 3 0% - - - NULL GALNT1 2589 genome.wustl.edu 37 18 33272250 33272250 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020474.3 +1 reviewed p.S422Y 1.000 198 0.5% 127 33.9% 5 60% probably_damaging(0.999) tolerated(0.17) deleterious(0.549) superfamily_Ricin B-like lectins,superfamily_Nucleotide-diphospho-sugar transferases C18orf21 83608 genome.wustl.edu 37 18 33558801 33558801 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031446.3 +1 validated p.T165 0.999 172 0% 142 26.1% 13 38.4% - - - NULL SLC39A6 25800 genome.wustl.edu 37 18 33703529 33703529 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012319.3 -1 validated p.L357I 1.000 552 0% 629 26.7% 5 0% probably_damaging(0.998) tolerated(0.17) deleterious(0.533) HMMPfam_Zip FHOD3 80206 genome.wustl.edu 37 18 34261521 34261521 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025135.2 +1 validated p.R478I 1.000 138 0% 154 29.9% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL FHOD3 80206 genome.wustl.edu 37 18 34310720 34310720 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025135.2 +1 validated p.A1002T 1.000 181 0% 88 35.2% 0 - possibly_damaging(0.882) deleterious(0) deleterious(0.789) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd KIAA1328 57536 genome.wustl.edu 37 18 34424262 34424262 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020776.1 +1 validated p.A110V 1.000 95 0% 77 16.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PIK3C3 5289 genome.wustl.edu 37 18 39593533 39593533 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002647.2 +1 validated p.S433Y 1.000 571 0% 329 23.4% 0 - benign(0.001) deleterious(0.02) neutral(0.383) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold SYT4 6860 genome.wustl.edu 37 18 40854298 40854298 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020783.3 -1 validated p.L32 0.896 164 0% 137 24.1% 0 - - - - NULL SETBP1 26040 genome.wustl.edu 37 18 42281665 42281665 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015559.2 +1 validated p.K118N 1.000 382 0% 379 27.4% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC14A2 8170 genome.wustl.edu 37 18 43216962 43216962 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007163.3 +1 validated p.L220I 0.000 713 0% 686 25.2% 0 - benign(0) tolerated(0.66) neutral(0.003) HMMPfam_UT SLC14A2 8170 genome.wustl.edu 37 18 43262478 43262478 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007163.3 +1 validated p.V919 0.998 215 0% 210 24.8% 0 - - - - NULL SLC14A1 6563 genome.wustl.edu 37 18 43310353 43310353 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001128588.3 +1 reviewed p.S79L 0.000 124 0% 119 61.3% 1 0% benign(0.001) tolerated(0.83) neutral(0.001) NULL EPG5 57724 genome.wustl.edu 37 18 43462380 43462380 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020964.2 -1 validated p.H1793N 1.000 191 0% 168 29.2% 0 - probably_damaging(0.962) tolerated(0.45) neutral(0.417) NULL EPG5 57724 genome.wustl.edu 37 18 43502542 43502542 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020964.2 -1 validated p.R955* 1.000 187 0.5% 181 43.6% 0 - - - - NULL EPG5 57724 genome.wustl.edu 37 18 43510656 43510656 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020964.2 -1 validated p.L800M 1.000 194 0% 147 19% 0 - probably_damaging(0.999) tolerated(0.18) deleterious(0.546) NULL ST8SIA5 29906 genome.wustl.edu 37 18 44260332 44260332 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013305.4 -1 reviewed p.F268 1.000 17 0% 25 28% 0 - - - - HMMPfam_Glyco_transf_29 PIAS2 9063 genome.wustl.edu 37 18 44400988 44400988 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004671.2 -1 validated p.S519L 0.985 210 0% 194 25.3% 28 28.5% benign(0.196) deleterious(0.05) neutral(0.364) NULL PIAS2 9063 genome.wustl.edu 37 18 44470867 44470867 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004671.2 -1 validated p.E59* 1.000 235 0% 249 37.8% 1 100% - - - NULL KATNAL2 83473 genome.wustl.edu 37 18 44593414 44593414 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031303.2 +1 validated p.N178S 1.000 188 0% 108 17.6% 0 - benign(0.09) tolerated(0.21) neutral(0.050) superfamily_SSF52540 MYO5B 4645 genome.wustl.edu 37 18 47463706 47463706 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080467.2 -1 reviewed p.G605V 1.000 168 0% 179 20.1% 4 100% possibly_damaging(0.594) tolerated(0.12) neutral(0.466) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MBD1 4152 genome.wustl.edu 37 18 47796400 47796400 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000339998 -1 known p.I545S 0.022 245 0% 172 27.9% 3 33.3% unknown(0) - - NULL MEX3C 51320 genome.wustl.edu 37 18 48702883 48702883 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016626.4 -1 reviewed p.H606 1.000 255 0% 259 30.1% 17 52.9% - - - superfamily_SSF57850 DCC 1630 genome.wustl.edu 37 18 50731718 50731718 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005215.3 +1 reviewed p.S569F 0.741 357 0% 288 27.1% 0 - benign(0) tolerated(0.12) neutral(0.261) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MBD2 8932 genome.wustl.edu 37 18 51686182 51686182 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003927.3 -1 reviewed p.M401L 0.661 198 0% 156 25.6% 267 41.9% benign(0.009) deleterious(0.04) neutral(0.349) NULL POLI 11201 genome.wustl.edu 37 18 51810358 51810358 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007195.2 +1 validated p.E348* 1.000 80 0% 71 36.6% 1 0% - - - HMMPfam_IMS,superfamily_Lesion bypass DNA polymerase (Y-family) little finger domain POLI 11201 genome.wustl.edu 37 18 51820558 51820558 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007195.2 +1 validated p.N648 0.877 285 0% 243 26.7% 5 80% - - - NULL C18orf54 162681 genome.wustl.edu 37 18 51904607 51904607 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173529.4 +1 validated p.P370 0.980 160 0% 139 31.7% 6 0% - - - NULL TCF4 6925 genome.wustl.edu 37 18 52946880 52946880 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001083962.1 -1 reviewed p.A186V 1.000 119 0% 97 30.9% 5 0% benign(0.072) deleterious(0.01) neutral(0.411) NULL TCF4 6925 genome.wustl.edu 37 18 53017609 53017609 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001083962.1 -1 reviewed p.P177H 1.000 152 0% 152 19.7% 2 100% possibly_damaging(0.794) deleterious(0) deleterious(0.742) NULL TCF4 6925 genome.wustl.edu 37 18 53302958 53302958 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000398339 -1 known p.S57 0.000 18 0% 39 33.3% 0 - - - - NULL TXNL1 9352 genome.wustl.edu 37 18 54281690 54281690 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004786.2 -1 validated p.R234C 1.000 90 0% 64 35.9% 120 30% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DUF1000 TXNL1 9352 genome.wustl.edu 37 18 54285275 54285275 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004786.2 -1 validated p.R151Q 1.000 244 0% 253 24.1% 60 28.3% benign(0.076) tolerated(0.51) neutral(0.014) NULL WDR7 23335 genome.wustl.edu 37 18 54348593 54348593 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015285.2 +1 reviewed p.K106Q 1.000 260 0% 209 31.1% 0 - possibly_damaging(0.486) deleterious(0.01) deleterious(0.567) superfamily_Prolyl oligopeptidase N-terminal domain WDR7 23335 genome.wustl.edu 37 18 54361879 54361879 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015285.2 +1 reviewed p.F332L 1.000 134 0% 101 27.7% 1 0% probably_damaging(0.973) tolerated(1) neutral(0.415) superfamily_Prolyl oligopeptidase N-terminal domain WDR7 23335 genome.wustl.edu 37 18 54424511 54424511 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015285.2 +1 reviewed p.S896Y 1.000 492 0.2% 299 28.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ST8SIA3 51046 genome.wustl.edu 37 18 55024661 55024661 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015879.2 +1 validated p.Q274* 1.000 143 0% 125 24.8% 0 - - - - HMMPfam_Glyco_transf_29 NEDD4L 23327 genome.wustl.edu 37 18 55833031 55833031 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001144967.1 +1 validated p.R20 0.978 50 0% 35 25.7% 1 0% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) NEDD4L 23327 genome.wustl.edu 37 18 55989679 55989679 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001144967.1 +1 validated p.R124Q 1.000 21 0% 16 56.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ALPK2 115701 genome.wustl.edu 37 18 56202263 56202263 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052947.3 -1 validated p.G1719V 0.000 202 0% 200 27.5% 0 - probably_damaging(0.976) deleterious(0.03) deleterious(0.782) NULL ALPK2 115701 genome.wustl.edu 37 18 56247380 56247380 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052947.3 -1 validated p.E210* 0.531 361 0% 302 32.5% 0 - - - - NULL ZNF532 55205 genome.wustl.edu 37 18 56587855 56587855 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018181.4 +1 validated p.T779M 0.998 255 0% 165 24.8% 18 22.2% possibly_damaging(0.944) deleterious(0.04) deleterious(0.738) NULL LMAN1 3998 genome.wustl.edu 37 18 57022585 57022585 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005570.3 -1 reviewed p.G146D 1.000 63 0% 72 16.7% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lectin_leg-like,superfamily_ConA_like_lec_gl CDH20 28316 genome.wustl.edu 37 18 59167718 59167718 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031891.2 +1 reviewed p.S215Y 1.000 104 0% 105 16.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PHLPP1 23239 genome.wustl.edu 37 18 60612354 60612354 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_194449.2 +1 validated p.K546N 0.993 75 0% 74 24.3% 1 100% possibly_damaging(0.848) tolerated(0.1) deleterious(0.612) superfamily_L domain-like KDSR 2531 genome.wustl.edu 37 18 61030017 61030017 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002035.2 -1 reviewed p.N65H 0.996 207 0% 202 27.2% 3 0% probably_damaging(0.956) deleterious(0.02) deleterious(0.782) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains SERPINB4 6318 genome.wustl.edu 37 18 61310688 61310688 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002974.2 -1 validated p.L42F 0.000 235 0% 168 58.3% 0 - benign(0.054) tolerated(0.58) neutral(0.009) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINB3 6317 genome.wustl.edu 37 18 61322905 61322905 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006919.2 -1 validated p.F387L 0.006 272 0% 238 61.3% 0 - possibly_damaging(0.889) tolerated(0.11) deleterious(0.621) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINB7 8710 genome.wustl.edu 37 18 61471494 61471494 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040147.1 +1 validated p.Q256 0.346 164 0% 127 33.9% 0 - - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINB2 5055 genome.wustl.edu 37 18 61564971 61564971 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001143818.1 +1 validated p.R143Q 0.001 203 0% 190 33.2% 0 - possibly_damaging(0.453) tolerated(0.34) neutral(0.171) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINB2 5055 genome.wustl.edu 37 18 61570237 61570237 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001143818.1 +1 validated p.E316* 1.000 130 0% 134 19.4% 0 - - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin HMSD 284293 genome.wustl.edu 37 18 61627535 61627535 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001123366.1 +1 validated p.F122 0.000 150 0% 103 35% 0 - - - - NULL CDH19 28513 genome.wustl.edu 37 18 64235666 64235666 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021153.2 -1 reviewed p.E159D 1.000 191 0% 207 35.7% 0 - possibly_damaging(0.774) deleterious(0) deleterious(0.733) HMMPfam_Cadherin,superfamily_Cadherin CDH19 28513 genome.wustl.edu 37 18 64235727 64235727 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021153.2 -1 reviewed p.S139L 0.989 186 0% 226 34.5% 0 - benign(0.001) tolerated(0.07) neutral(0.319) HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin DSEL 92126 genome.wustl.edu 37 18 65178608 65178608 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032160.2 -1 validated p.E1090K 0.998 195 0% 180 27.8% 0 - possibly_damaging(0.897) deleterious(0.01) deleterious(0.760) superfamily_P-loop containing nucleoside triphosphate hydrolases TMX3 54495 genome.wustl.edu 37 18 66348217 66348217 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019022.3 -1 validated e14+1 1.000 462 0% 286 32.2% 0 - - - - - CD226 10666 genome.wustl.edu 37 18 67531668 67531668 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006566.2 -1 reviewed p.N298T 0.108 194 0% 165 23% 0 - benign(0) tolerated(0.89) - NULL RTTN 25914 genome.wustl.edu 37 18 67816255 67816255 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173630.3 -1 validated p.D731N 1.000 504 0% 369 24.7% 3 0% possibly_damaging(0.952) tolerated(0.39) neutral(0.412) superfamily_ARM repeat NETO1 81832 genome.wustl.edu 37 18 70451127 70451127 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138966.2 -1 reviewed p.F218L 1.000 270 0% 169 24.3% 0 - benign(0.14) deleterious(0.02) neutral(0.395) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain NETO1 81832 genome.wustl.edu 37 18 70526208 70526208 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138966.2 -1 reviewed p.F108V 1.000 139 0% 145 25.5% 0 - probably_damaging(0.999) tolerated(0.2) deleterious(0.539) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain FBXO15 201456 genome.wustl.edu 37 18 71796803 71796803 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001142958.1 -1 reviewed p.K208Q 0.935 197 0% 135 20% 0 - probably_damaging(0.996) tolerated(0.2) deleterious(0.511) NULL ZNF407 55628 genome.wustl.edu 37 18 72344952 72344952 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017757.2 +1 reviewed p.Q659 0.475 140 0% 100 28% 0 - - - - NULL ZNF407 55628 genome.wustl.edu 37 18 72346340 72346340 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017757.2 +1 reviewed p.R1122I 0.008 123 0% 70 22.9% 0 - possibly_damaging(0.806) deleterious(0) deleterious(0.748) NULL ZNF407 55628 genome.wustl.edu 37 18 72347067 72347067 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017757.2 +1 reviewed p.K1364 1.000 290 0% 206 31.1% 0 - - - - NULL ZNF407 55628 genome.wustl.edu 37 18 72347472 72347472 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017757.2 +1 reviewed p.Q1499H 1.000 66 0% 36 19.4% 0 - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TSHZ1 10194 genome.wustl.edu 37 18 73000152 73000152 + Silent SNP G G A rs145714683 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005786.4 +1 reviewed p.S885 1.000 54 0% 45 28.9% 11 27.2% - - - HMMPfam_Homeobox,HMMSmart_SM00389 C18orf62 284274 genome.wustl.edu 37 18 73130845 73130845 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037331.2 -1 provisional p.F52L 0.001 183 0% 146 28.8% 0 - benign(0.009) - - NULL ZNF236 7776 genome.wustl.edu 37 18 74622023 74622023 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007345.3 +1 validated e15-1 1.000 168 0% 162 25.9% 0 - - - - - ATP9B 374868 genome.wustl.edu 37 18 76914503 76914503 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198531.3 +1 validated e7-1 1.000 452 0% 234 25.2% 0 - - - - - ATP9B 374868 genome.wustl.edu 37 18 77090038 77090038 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198531.3 +1 validated p.F654L 0.957 89 0% 70 31.4% 6 83.3% benign(0.17) tolerated(0.12) neutral(0.276) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N C19orf21 126353 genome.wustl.edu 37 19 758354 758354 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173481.2 +1 predicted p.L470I 0.000 54 0% 64 20.3% 15 46.6% possibly_damaging(0.832) tolerated(0.49) neutral(0.328) NULL POLR2E 5434 genome.wustl.edu 37 19 1091827 1091827 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002695.3 -1 reviewed p.I104 0.981 10 0% 14 50% 436 43.8% - - - superfamily_RNA_pol_Rpb5_N AP3D1 8943 genome.wustl.edu 37 19 2121230 2121230 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003938.5 -1 validated p.D394 0.994 24 0% 26 26.9% 58 31% - - - HMMPfam_Adaptin_N,superfamily_ARM repeat ZNF556 80032 genome.wustl.edu 37 19 2877593 2877593 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024967.1 +1 provisional p.L213I 0.019 92 0% 112 33.9% 0 - benign(0.01) tolerated(0.69) neutral(0.003) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 TLE6 79816 genome.wustl.edu 37 19 2993570 2993570 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001143986.1 +1 validated p.F509L 1.000 37 0% 40 22.5% 13 7.6% possibly_damaging(0.945) deleterious(0) deleterious(0.834) HMMSmart_SM00320,superfamily_WD40 repeat-like ANKRD24 170961 genome.wustl.edu 37 19 4219723 4219723 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133475.1 +1 provisional p.A1047T 1.000 49 0% 43 30.2% 2 100% possibly_damaging(0.888) tolerated(0.65) neutral(0.350) NULL FSD1 79187 genome.wustl.edu 37 19 4306218 4306218 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024333.2 +1 reviewed p.E45D 1.000 54 0% 85 37.6% 0 - benign(0.071) tolerated(0.09) neutral(0.301) HMMSmart_BBC ARRDC5 645432 genome.wustl.edu 37 19 4902817 4902817 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080523.1 -1 provisional p.I21 0.079 82 0% 104 27.9% 0 - - - - HMMPfam_Arrestin_N,superfamily_E set domains SAFB 6294 genome.wustl.edu 37 19 5654384 5654384 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002967.2 +1 reviewed p.R558* 0.493 278 0% 316 25.6% 47 10.6% - - - superfamily_SSF54928 LONP1 9361 genome.wustl.edu 37 19 5711811 5711811 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004793.2 -1 reviewed p.E281K 1.000 40 0% 42 28.6% 78 33.3% benign(0.023) tolerated(0.19) neutral(0.051) HMMPfam_LON,HMMSmart_LON VMAC 400673 genome.wustl.edu 37 19 5908922 5908922 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001017921.3 +1 validated p.L93 0.280 22 0% 28 32.1% 6 50% - - - NULL RFX2 5990 genome.wustl.edu 37 19 6016224 6016224 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000635.3 -1 reviewed p.S219Y 1.000 49 0% 45 42.2% 0 - possibly_damaging(0.796) deleterious(0) deleterious(0.744) "HMMPfam_RFX_DNA_binding,superfamily_""Winged helix"" DNA-binding domain" C3 718 genome.wustl.edu 37 19 6707518 6707518 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000064.2 -1 reviewed p.R669Q 0.072 17 0% 20 40% 367 25.8% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL TRIP10 9322 genome.wustl.edu 37 19 6743844 6743844 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004240.2 +1 validated p.F213 0.998 126 0% 172 29.7% 27 22.2% - - - NULL VAV1 7409 genome.wustl.edu 37 19 6825086 6825086 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005428.2 +1 reviewed p.R226L 0.988 243 0% 182 20.3% 1 0% benign(0.008) tolerated(0.21) neutral(0.044) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,superfamily_Calponin-homology EMR1 2015 genome.wustl.edu 37 19 6908776 6908776 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001974.3 +1 reviewed p.S372Y 0.037 301 0% 288 29.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Family A G protein-coupled receptor-like EMR1 2015 genome.wustl.edu 37 19 6928286 6928286 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000381404 +1 known p.D735Y 0.001 165 0% 180 33.3% 0 - probably_damaging(0.976) - - HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like EMR4P 326342 genome.wustl.edu 37 19 6977332 6977332 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000359590 -1 known p.E192D 0.004 106 0% 83 27.7% 0 - - - - NULL ZNF557 79230 genome.wustl.edu 37 19 7083365 7083365 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001044387.1 +1 validated p.F301 0.814 142 0% 147 29.3% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF557 79230 genome.wustl.edu 37 19 7083376 7083376 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001044387.1 +1 validated p.S305* 0.003 140 0% 154 19.5% 2 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RETN 56729 genome.wustl.edu 37 19 7734706 7734706 + Splice_Site SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020415.2 +1 reviewed e2-1 0.797 38 0% 59 18.6% 0 - - - - - CD209 30835 genome.wustl.edu 37 19 7809840 7809840 + Missense_Mutation SNP C C A rs187051357 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021155.3 -1 reviewed p.S296I 0.001 122 0% 190 30.5% 0 - possibly_damaging(0.744) deleterious(0) deleterious(0.718) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like FBN3 84467 genome.wustl.edu 37 19 8152996 8152996 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032447.3 -1 reviewed p.F2148 1.000 37 0% 32 25% 0 - - - - PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN3 84467 genome.wustl.edu 37 19 8173063 8173063 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032447.3 -1 reviewed p.I1560V 1.000 208 0% 149 22.8% 0 - probably_damaging(0.98) tolerated(0.35) neutral(0.445) NULL FBN3 84467 genome.wustl.edu 37 19 8188378 8188378 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032447.3 -1 reviewed p.A1018T 1.000 19 0% 26 34.6% 0 - possibly_damaging(0.523) tolerated(0.27) neutral(0.210) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_EGF/Laminin FBN3 84467 genome.wustl.edu 37 19 8206888 8206888 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032447.3 -1 reviewed p.C225 1.000 15 0% 40 30% 0 - - - - HMMPfam_TB,superfamily_TB module/8-cys domain CERS4 79603 genome.wustl.edu 37 19 8321901 8321901 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024552.2 +1 validated p.N227 1.000 143 0% 104 26.9% 43 16.2% - - - HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 ADAMTS10 81794 genome.wustl.edu 37 19 8651564 8651564 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030957.2 -1 reviewed p.P761S 0.983 49 0% 52 19.2% 3 0% benign(0.422) deleterious(0.01) deleterious(0.542) HMMPfam_ADAM_spacer1 ACTL9 284382 genome.wustl.edu 37 19 8807937 8807937 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178525.3 -1 validated p.A372D 0.715 25 0% 38 18.4% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain MUC16 94025 genome.wustl.edu 37 19 9049134 9049134 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024690.2 -1 validated p.P10833S 0.000 709 0.3% 958 30.2% 4 100% unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9061944 9061944 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024690.2 -1 validated p.S8501Y 0.000 288 0% 543 26.3% 6 50% unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9069047 9069047 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024690.2 -1 validated p.I6133M 0.001 134 0% 250 35.6% 6 50% unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9072555 9072555 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024690.2 -1 validated p.P4964Q 0.000 339 0% 477 31.2% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9076660 9076660 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024690.2 -1 validated p.D3596Y 0.001 286 0% 371 10.5% 4 0% unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9082646 9082646 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024690.2 -1 validated p.L3057I 0.014 293 0% 212 28.8% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9083556 9083556 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024690.2 -1 validated p.A2753 0.005 297 0% 300 27.3% 0 - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9086155 9086155 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024690.2 -1 validated p.S1887Y 0.011 205 0% 223 32.3% 0 - unknown(0) - - NULL ZNF317 57693 genome.wustl.edu 37 19 9272050 9272050 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020933.3 +1 provisional p.V577M 0.499 138 0% 164 26.8% 11 9% possibly_damaging(0.688) tolerated(0.14) deleterious(0.495) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF699 374879 genome.wustl.edu 37 19 9408153 9408153 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198535.1 -1 provisional p.F97V 0.001 72 0% 93 30.1% 0 - benign(0.071) tolerated(0.5) neutral(0.015) NULL ZNF559 84527 genome.wustl.edu 37 19 9449979 9449979 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032497.1 +1 provisional p.K48N 0.014 307 0% 412 31.6% 0 - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF559 84527 genome.wustl.edu 37 19 9452459 9452459 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032497.1 +1 provisional p.R111I 0.000 210 0% 196 24% 0 - benign(0.114) tolerated(0.16) neutral(0.068) superfamily_SSF57667 ZNF559 84527 genome.wustl.edu 37 19 9452785 9452785 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032497.1 +1 provisional p.E220K 0.055 271 0% 263 36.9% 0 - benign(0) tolerated(1) - NULL ZNF559 84527 genome.wustl.edu 37 19 9452909 9452909 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032497.1 +1 provisional p.R261I 0.002 268 0% 209 23.9% 1 0% probably_damaging(0.996) tolerated(0.14) deleterious(0.711) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF559 84527 genome.wustl.edu 37 19 9453497 9453497 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032497.1 +1 provisional p.R457I 0.350 178 0% 145 27.6% 2 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF559 84527 genome.wustl.edu 37 19 9453633 9453633 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032497.1 +1 provisional p.F502 0.009 167 0% 192 30.2% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF177 7730 genome.wustl.edu 37 19 9491877 9491877 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003451.2 +1 validated p.G130 0.998 180 0.6% 147 31.3% 4 75% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9577344 9577344 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152476.2 -1 validated p.R760I 0.111 224 0% 222 33.8% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9577428 9577428 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152476.2 -1 validated p.R732Q 0.003 260 0.4% 246 30.9% 0 - benign(0.423) deleterious(0.03) deleterious(0.502) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9578016 9578016 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152476.2 -1 validated p.R536Q 0.047 224 0% 221 31.7% 0 - benign(0.075) tolerated(0.07) neutral(0.324) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF121 7675 genome.wustl.edu 37 19 9677049 9677049 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008727.2 -1 validated p.F247C 0.005 221 0% 233 37.8% 1 100% possibly_damaging(0.719) deleterious(0.02) deleterious(0.643) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF121 7675 genome.wustl.edu 37 19 9677735 9677735 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008727.2 -1 validated p.E18D 0.182 110 0% 137 32.8% 3 100% benign(0.001) tolerated(0.07) neutral(0.319) NULL COL5A3 50509 genome.wustl.edu 37 19 10114391 10114391 + Splice_Site SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015719.3 -1 reviewed e6-1 0.812 81 0% 101 36.6% 0 - - - - - RAVER1 125950 genome.wustl.edu 37 19 10428163 10428163 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000331131 -1 known p.R603Q 0.907 16 0.000 9 0.444 30 40% unknown(0) - - NULL TYK2 7297 genome.wustl.edu 37 19 10472850 10472850 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003331.4 -1 reviewed p.S559 1.000 16 0% 29 34.5% 23 30.4% - - - superfamily_SSF55550 DNM2 1785 genome.wustl.edu 37 19 10886411 10886411 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005360.1 +1 reviewed p.I140V 1.000 207 0% 342 32.2% 74 48.6% benign(0.001) deleterious(0.02) neutral(0.383) HMMPfam_Dynamin_N,HMMSmart_SM00053,superfamily_P-loop containing nucleoside triphosphate hydrolases SMARCA4 6597 genome.wustl.edu 37 19 11100016 11100016 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001128849.1 +1 reviewed p.R381Q 1.000 41 0% 44 38.6% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DOCK6 57572 genome.wustl.edu 37 19 11313309 11313309 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020812.2 -1 validated p.Y1771C 1.000 82 0% 95 31.6% 16 31.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RGL3 57139 genome.wustl.edu 37 19 11515870 11515870 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001035223.2 -1 validated p.F380V 1.000 105 0% 148 27% 14 42.8% possibly_damaging(0.714) deleterious(0) deleterious(0.703) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF ACP5 54 genome.wustl.edu 37 19 11687914 11687914 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001111034.1 -1 reviewed p.F73L 1.000 32 0% 54 31.5% 83 2.4% probably_damaging(0.991) tolerated(0.07) deleterious(0.763) HMMPfam_Metallophos,superfamily_SSF56300 ZNF627 199692 genome.wustl.edu 37 19 11727949 11727949 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145295.3 +1 validated p.R211C 0.000 30 0% 55 32.7% 2 50% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF441 126068 genome.wustl.edu 37 19 11891848 11891848 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152355.2 +1 validated p.F403L 0.000 133 0% 158 30.4% 0 - benign(0.005) tolerated(0.66) neutral(0.003) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF491 126069 genome.wustl.edu 37 19 11917544 11917544 + Missense_Mutation SNP G G A rs186336457 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152356.3 +1 validated p.R259Q 0.002 169 0% 162 27.8% 0 - possibly_damaging(0.809) tolerated(0.84) neutral(0.305) HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF491 126069 genome.wustl.edu 37 19 11917992 11917992 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152356.3 +1 validated p.E408D 0.695 101 0% 112 36.6% 0 - benign(0.012) deleterious(0.04) neutral(0.349) superfamily_SSF57667 ZNF700 90592 genome.wustl.edu 37 19 12059732 12059732 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144566.1 +1 provisional p.R298I 0.779 147 0% 159 23.3% 0 - possibly_damaging(0.584) tolerated(0.08) deleterious(0.501) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF433 163059 genome.wustl.edu 37 19 12125782 12125782 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080411.1 -1 provisional p.R634* 0.000 171 0% 187 31% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF433 163059 genome.wustl.edu 37 19 12126118 12126118 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080411.1 -1 provisional p.R522* 0.000 249 0.4% 201 30.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF136 7695 genome.wustl.edu 37 19 12298008 12298008 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003437.2 +1 validated p.R272I 1.000 207 0% 181 29.8% 0 - possibly_damaging(0.468) tolerated(0.14) neutral(0.403) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC100287841 100287841 genome.wustl.edu 37 19 12358792 12358792 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343641.1 -1 model p.R308I 0.000 44 0% 47 27.7% 0 - benign(0.016) tolerated(0.44) neutral(0.013) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF44 51710 genome.wustl.edu 37 19 12383415 12383415 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016264.3 -1 validated p.R552M 0.370 85 0% 116 19.8% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF563 147837 genome.wustl.edu 37 19 12429769 12429769 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145276.2 -1 validated p.R357Q 0.981 309 0% 389 31.4% 3 0% possibly_damaging(0.921) deleterious(0.02) deleterious(0.754) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF442 79973 genome.wustl.edu 37 19 12461221 12461221 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030824.2 -1 validated p.R393Q 0.003 664 0.2% 568 27.6% 1 100% probably_damaging(0.986) tolerated(0.61) neutral(0.439) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF442 79973 genome.wustl.edu 37 19 12461473 12461473 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030824.2 -1 validated p.R309Q 0.000 637 0.2% 616 37.3% 0 - benign(0.151) tolerated(0.51) neutral(0.022) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF709 163051 genome.wustl.edu 37 19 12575093 12575093 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152601.3 -1 validated p.R548Q 0.000 442 0% 334 26.9% 1 100% possibly_damaging(0.681) tolerated(0.73) neutral(0.244) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF709 163051 genome.wustl.edu 37 19 12576017 12576017 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152601.3 -1 validated p.R240Q 0.000 216 0.5% 204 28.4% 0 - possibly_damaging(0.528) tolerated(0.68) neutral(0.180) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF490 57474 genome.wustl.edu 37 19 12691589 12691589 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020714.2 -1 validated p.R434* 0.000 256 0% 353 34.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF791 163049 genome.wustl.edu 37 19 12739234 12739234 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153358.2 +1 validated p.E297D 0.999 146 0% 169 21.9% 0 - possibly_damaging(0.873) deleterious(0.04) deleterious(0.688) superfamily_SSF57667 MAN2B1 4125 genome.wustl.edu 37 19 12757477 12757477 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000528.3 -1 reviewed p.R998H 1.000 52 0% 71 22.5% 428 24% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C MAN2B1 4125 genome.wustl.edu 37 19 12758346 12758346 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000528.3 -1 reviewed p.E911K 0.000 42 0% 59 28.8% 329 23.1% benign(0) tolerated(0.34) neutral(0.023) superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C MAN2B1 4125 genome.wustl.edu 37 19 12774641 12774641 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000528.3 -1 reviewed p.F213 0.840 51 0% 51 41.2% 9 55.5% - - - HMMPfam_Glyco_hydro_38,superfamily_Glyco_hydro/deAcase_b/a-brl GCDH 2639 genome.wustl.edu 37 19 13008529 13008529 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000159.2 +1 reviewed p.E365D 0.939 128 0% 99 34.3% 20 35% benign(0.001) tolerated(0.06) neutral(0.323) HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like NFIX 4784 genome.wustl.edu 37 19 13201123 13201123 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002501.2 +1 validated p.R422Q 1.000 52 0% 57 22.8% 33 39.3% probably_damaging(0.999) tolerated(0.24) deleterious(0.528) NULL CACNA1A 773 genome.wustl.edu 37 19 13419322 13419322 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127222.1 -1 reviewed p.F563 0.935 41 0% 33 21.2% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1A 773 genome.wustl.edu 37 19 13446664 13446664 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001127222.1 -1 reviewed p.I346 0.978 69 0% 62 21% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels GIPC1 10755 genome.wustl.edu 37 19 14591507 14591507 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005716.2 -1 validated p.F124 0.963 54 0% 72 34.7% 248 44.7% - - - superfamily_PDZ CLEC17A 388512 genome.wustl.edu 37 19 14707965 14707965 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207390.2 +1 validated p.R196Q 0.004 56 0% 55 27.3% 0 - benign(0.071) tolerated(0.11) neutral(0.277) NULL EMR3 84658 genome.wustl.edu 37 19 14743818 14743818 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032571.3 -1 reviewed p.L520V 0.245 85 0% 97 21.6% 0 - probably_damaging(0.99) tolerated(0.22) deleterious(0.483) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like EMR3 84658 genome.wustl.edu 37 19 14749127 14749127 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032571.3 -1 reviewed p.A425V 0.018 103 0% 80 28.7% 0 - benign(0.097) tolerated(0.67) neutral(0.010) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like EMR3 84658 genome.wustl.edu 37 19 14752279 14752279 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000443157 -1 known p.S368F 1.000 66 0% 48 31.2% 0 - - - - NULL ZNF333 84449 genome.wustl.edu 37 19 14829464 14829464 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032433.2 +1 validated p.R442I 0.970 313 0% 281 17.1% 3 0% probably_damaging(0.988) tolerated(0.07) deleterious(0.756) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 OR7C1 26664 genome.wustl.edu 37 19 14910306 14910306 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198944.1 -1 validated p.F215V 0.000 212 0.5% 256 34% 0 - benign(0) tolerated(0.2) neutral(0.049) HMMPfam_7tm_1,superfamily_SSF81321 OR7A5 26659 genome.wustl.edu 37 19 14938836 14938836 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017506.1 -1 validated p.V73A 0.000 537 0% 579 32% 0 - benign(0.003) deleterious(0.02) neutral(0.383) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR7A17 26333 genome.wustl.edu 37 19 14991649 14991649 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030901.1 -1 provisional p.E173D 0.118 217 0% 339 33.6% 0 - possibly_damaging(0.585) deleterious(0.04) deleterious(0.550) HMMPfam_7tm_1,superfamily_SSF81321 OR7C2 26658 genome.wustl.edu 37 19 15052948 15052948 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012377.1 +1 provisional p.F216L 0.459 213 0% 271 32.8% 0 - benign(0.01) tolerated(0.38) neutral(0.018) HMMPfam_7tm_1,superfamily_SSF81321 OR7C2 26658 genome.wustl.edu 37 19 15053121 15053121 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012377.1 +1 provisional p.S274L 0.255 192 0% 252 27.8% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_7tm_1,superfamily_SSF81321 CCDC105 126402 genome.wustl.edu 37 19 15132169 15132169 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173482.2 +1 validated p.C293 0.868 34 0% 47 14.9% 0 - - - - NULL ILVBL 10994 genome.wustl.edu 37 19 15226687 15226687 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006844.3 -1 reviewed p.E530K 1.000 40 0% 35 20% 63 23.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TPP_enzyme_C,superfamily_Thiamin diphosphate-binding fold (THDP-binding) BRD4 23476 genome.wustl.edu 37 19 15366193 15366193 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_058243.2 -1 reviewed p.I654 0.330 93 0% 58 27.6% 28 50% - - - NULL CYP4F22 126410 genome.wustl.edu 37 19 15651326 15651326 + Missense_Mutation SNP G G A rs184021211 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173483.3 +1 reviewed p.R246H 0.005 79 0% 87 26.4% 0 - benign(0) tolerated(0.54) neutral(0.007) HMMPfam_p450,superfamily_Cytochrome_P450 CYP4F22 126410 genome.wustl.edu 37 19 15654966 15654966 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173483.3 +1 reviewed p.D338N 1.000 184 0% 194 30.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 CYP4F8 11283 genome.wustl.edu 37 19 15728823 15728823 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000441682 +1 known p.E71K 0.653 62 0% 68 23.5% 0 - benign(0.111) tolerated(0.12) neutral(0.269) HMMPfam_p450,superfamily_Cytochrome P450 CYP4F8 11283 genome.wustl.edu 37 19 15739592 15739592 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000441682 +1 known p.D445N 0.995 117 0% 119 23.5% 0 - benign(0.195) tolerated(0.38) neutral(0.036) HMMPfam_p450,superfamily_Cytochrome P450 CYP4F3 4051 genome.wustl.edu 37 19 15757898 15757898 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000896.2 +1 reviewed p.F127C 0.357 177 0% 224 27.2% 0 - possibly_damaging(0.86) deleterious(0) deleterious(0.777) HMMPfam_p450,superfamily_Cytochrome_P450 CYP4F12 66002 genome.wustl.edu 37 19 15791167 15791167 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000430608 +1 known p.L153 0.000 75 0% 67 26.9% 0 - - - - NULL CYP4F12 66002 genome.wustl.edu 37 19 15795949 15795949 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023944.2 +1 reviewed p.R353C 0.909 141 0% 170 29.4% 2 100% possibly_damaging(0.48) deleterious(0.01) deleterious(0.565) HMMPfam_p450,superfamily_Cytochrome P450 CYP4F12 66002 genome.wustl.edu 37 19 15806987 15806987 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023944.2 +1 reviewed p.I422 0.026 223 0% 323 27.6% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 ENSG00000225607 0 genome.wustl.edu 37 19 15890551 15890551 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000412610 -1 known p.Q57H 0.066 45 0% 24 29.2% 0 - - - - superfamily_Cytochrome P450 HSH2D 84941 genome.wustl.edu 37 19 16268097 16268097 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000253680 +1 known p.K184N 0.001 84 0% 101 18.8% 4 0% benign(0) deleterious(0.02) neutral(0.383) NULL CHERP 10523 genome.wustl.edu 37 19 16631231 16631231 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006387.5 -1 validated p.S763 0.840 26 0% 25 28% 45 60% - - - NULL SLC35E1 79939 genome.wustl.edu 37 19 16664577 16664577 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024881.4 -1 validated p.Y382 0.882 55 0% 80 30% 11 9% - - - NULL SIN3B 23309 genome.wustl.edu 37 19 16963954 16963954 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015260.1 +1 provisional p.F308L 0.997 37 0% 26 50% 0 - benign(0.221) tolerated(0.48) neutral(0.033) superfamily_PAH2 domain CPAMD8 27151 genome.wustl.edu 37 19 17091331 17091331 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015692.2 -1 validated p.R568C 0.032 37 0% 40 35% 0 - probably_damaging(0.995) deleterious(0.04) deleterious(0.806) HMMPfam_A2M_N_2 HAUS8 93323 genome.wustl.edu 37 19 17170822 17170822 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033417.1 -1 validated p.L104I 0.996 82 0% 134 14.9% 13 53.8% possibly_damaging(0.892) tolerated(0.3) neutral(0.380) NULL MYO9B 4650 genome.wustl.edu 37 19 17311121 17311121 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004145.3 +1 reviewed p.F1420L 0.998 30 0% 33 39.4% 1 0% benign(0.005) tolerated(0.56) neutral(0.006) NULL FCHO1 23149 genome.wustl.edu 37 19 17893968 17893968 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015122.2 +1 validated p.D694N 0.942 49 0% 75 33.3% 26 42.3% benign(0.03) tolerated(0.06) neutral(0.324) HMMPfam_SAFF FCHO1 23149 genome.wustl.edu 37 19 17898630 17898630 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015122.2 +1 validated p.S874 0.114 9 0.000 22 0.364 41 29.2% - - - NULL ARRDC2 27106 genome.wustl.edu 37 19 18119563 18119563 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015683.1 +1 validated p.F106 1.000 35 0% 31 22.6% 24 20.8% - - - HMMPfam_Arrestin_N,superfamily_E set domains TMEM59L 25789 genome.wustl.edu 37 19 18726786 18726786 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012109.2 +1 reviewed p.R137I 0.847 31 0% 35 40% 0 - possibly_damaging(0.912) tolerated(0.05) deleterious(0.709) NULL SUGP2 10147 genome.wustl.edu 37 19 19115365 19115365 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001017392.3 -1 reviewed p.P847 0.000 138 0% 126 38.1% 29 55.1% - - - NULL NCAN 1463 genome.wustl.edu 37 19 19360650 19360650 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004386.2 +1 validated p.R1299H 0.000 43 0% 115 47% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TM6SF2 53345 genome.wustl.edu 37 19 19375598 19375598 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001524.2 -1 validated p.F337V 0.044 41 0% 56 25% 0 - benign(0.001) tolerated(0.15) neutral(0.241) NULL TM6SF2 53345 genome.wustl.edu 37 19 19380882 19380882 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000431465 -1 known p.R190I 0.001 19 0% 15 46.7% 0 - unknown(0) - - NULL ZNF101 94039 genome.wustl.edu 37 19 19790292 19790292 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033204.2 +1 provisional p.R165Q 0.919 149 0% 273 26% 0 - benign(0.001) tolerated(0.08) neutral(0.300) superfamily_SSF57667 ZNF506 440515 genome.wustl.edu 37 19 19905663 19905663 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099269.2 -1 validated p.E345K 0.535 179 0% 174 32.2% 0 - benign(0.387) deleterious(0.02) deleterious(0.507) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF506 440515 genome.wustl.edu 37 19 19906415 19906415 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099269.2 -1 validated p.S94Y 0.000 114 0% 111 17.1% 0 - benign(0.058) deleterious(0.05) neutral(0.349) NULL ZNF93 81931 genome.wustl.edu 37 19 20026119 20026119 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031218.3 +1 validated p.E12* 0.039 655 0% 466 23.6% 2 0% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF90 7643 genome.wustl.edu 37 19 20216089 20216089 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007138.1 +1 validated p.T64A 0.001 590 0.2% 318 30.5% 2 50% benign(0.323) tolerated(0.75) neutral(0.103) HMMSmart_KRAB ENSG00000213985 0 genome.wustl.edu 37 19 20368578 20368578 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000397155 +1 known p.F17Y 1.000 47 0% 38 13.2% 0 - - - - HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 ENSG00000213985 0 genome.wustl.edu 37 19 20370147 20370147 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000397155 +1 known p.D370Y 1.000 73 0% 70 12.9% 0 - - - - HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 ZNF66P 7617 genome.wustl.edu 37 19 20975394 20975394 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000425625 +1 known p.N73S 0.273 355 0% 266 32% 1 100% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF85 7639 genome.wustl.edu 37 19 21132895 21132895 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003429.3 +1 validated p.L525 0.155 182 0% 162 16.7% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF431 170959 genome.wustl.edu 37 19 21366549 21366549 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133473.2 +1 validated p.E481D 1.000 321 0% 356 20.5% 0 - benign(0.017) tolerated(0.12) neutral(0.261) superfamily_C2H2 and C2HC zinc fingers ZNF493 284443 genome.wustl.edu 37 19 21606093 21606093 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001076678.2 +1 validated p.R211Q 0.031 243 0% 271 32.1% 0 - benign(0.005) tolerated(0.28) neutral(0.032) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF493 284443 genome.wustl.edu 37 19 21607744 21607744 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001076678.2 +1 validated p.I761M 0.517 137 0% 134 32.1% 0 - benign(0.044) deleterious(0.04) neutral(0.351) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF100 163227 genome.wustl.edu 37 19 21910188 21910188 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173531.3 -1 validated p.R309I 0.931 200 0% 236 31.4% 1 0% benign(0) tolerated(0.26) neutral(0.034) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF43 7594 genome.wustl.edu 37 19 21992001 21992001 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003423.2 -1 validated p.R280C 0.991 247 0% 276 32.6% 0 - benign(0.017) deleterious(0) neutral(0.445) superfamily_C2H2 and C2HC zinc fingers ZNF43 7594 genome.wustl.edu 37 19 21992125 21992125 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003423.2 -1 validated p.V238 0.024 205 0% 198 27.3% 0 - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF257 113835 genome.wustl.edu 37 19 22270857 22270857 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033468.2 +1 provisional p.R102I 0.005 126 0% 153 25.5% 0 - possibly_damaging(0.657) deleterious(0.02) deleterious(0.615) NULL ZNF257 113835 genome.wustl.edu 37 19 22270879 22270879 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033468.2 +1 provisional p.E109D 0.285 117 0% 160 28.7% 0 - benign(0.008) tolerated(0.34) neutral(0.023) NULL ZNF257 113835 genome.wustl.edu 37 19 22271725 22271725 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033468.2 +1 provisional p.K391 1.000 127 0% 183 28.4% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF676 163223 genome.wustl.edu 37 19 22362861 22362861 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001411.2 -1 provisional p.R553I 0.885 360 0.3% 308 29.5% 0 - benign(0.176) tolerated(0.26) neutral(0.050) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF676 163223 genome.wustl.edu 37 19 22364033 22364033 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001411.2 -1 provisional p.I162M 0.088 381 0% 314 23.2% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) superfamily_SSF57667 LOC100287226 100287226 genome.wustl.edu 37 19 22496698 22496698 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343636.1 +1 model p.M27T 0.000 43 0% 46 28.3% 0 - benign(0.002) tolerated(0.42) neutral(0.014) superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22496705 22496705 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343636.1 +1 model p.V29 0.000 43 0% 44 29.5% 0 - - - - superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22496808 22496808 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343636.1 +1 model p.R64* 0.000 30 0% 27 14.8% 0 - - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF98 148198 genome.wustl.edu 37 19 22574641 22574641 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098626.1 -1 validated p.E466* 0.004 320 0% 327 12.8% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF98 148198 genome.wustl.edu 37 19 22575422 22575422 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098626.1 -1 validated p.S205R 0.934 144 0% 129 38% 0 - benign(0.092) deleterious(0.01) neutral(0.413) superfamily_C2H2 and C2HC zinc fingers ZNF98 148198 genome.wustl.edu 37 19 22585636 22585636 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001098626.1 -1 validated p.E70* 0.046 409 0% 404 19.1% 0 - - - - HMMSmart_SM00349 LOC440518 440518 genome.wustl.edu 37 19 22780139 22780139 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_041921.2 +1 model NULL 0.209 62 0% 88 30.7% 0 - - - - - ENSG00000213974 0 genome.wustl.edu 37 19 22786092 22786092 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000397112 +1 known p.D181Y 0.756 18 0% 28 39.3% 0 - - - - NULL ZNF492 57615 genome.wustl.edu 37 19 22847809 22847809 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020855.2 +1 validated p.E446D 0.776 251 0% 237 36.3% 0 - benign(0.015) deleterious(0.02) neutral(0.384) superfamily_SSF57667 ZNF99 7652 genome.wustl.edu 37 19 22940594 22940594 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080409.1 -1 provisional p.K615T 0.017 408 0% 462 24.5% 0 - probably_damaging(0.997) tolerated(0.17) deleterious(0.525) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC646864 646864 genome.wustl.edu 37 19 23031100 23031100 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001726885.1 +1 model p.S43Y 0.183 208 0% 213 15.5% 0 - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) LOC646864 646864 genome.wustl.edu 37 19 23040208 23040208 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001726885.1 +1 model p.S201Y 0.718 87 0% 97 33% 0 - - - - superfamily_C2H2 and C2HC zinc fingers LOC646864 646864 genome.wustl.edu 37 19 23040439 23040439 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001726885.1 +1 model p.R278I 0.987 214 0% 243 36.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC646864 646864 genome.wustl.edu 37 19 23040539 23040539 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001726885.1 +1 model p.E311D 1.000 173 0% 233 29.6% 0 - - - - superfamily_C2H2 and C2HC zinc fingers LOC646864 646864 genome.wustl.edu 37 19 23040607 23040607 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001726885.1 +1 model p.R334I 0.995 215 0% 304 15.8% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF728 388523 genome.wustl.edu 37 19 23158143 23158143 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001726961.1 -1 model p.K619 0.009 61 0% 37 32.4% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF728 388523 genome.wustl.edu 37 19 23159468 23159468 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001726961.1 -1 model p.G224E 0.997 301 0% 261 26.8% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF730 100129543 genome.wustl.edu 37 19 23328241 23328241 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001719792.2 +1 model p.R174I 0.001 54 0% 33 30.3% 0 - benign(0.023) tolerated(0.2) neutral(0.050) NULL ZNF724P 440519 genome.wustl.edu 37 19 23406735 23406735 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000418100 -1 known p.E104D 0.002 62 0% 71 29.6% 0 - benign(0.002) tolerated(0.53) neutral(0.007) NULL ZNF91 7644 genome.wustl.edu 37 19 23543832 23543832 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003430.2 -1 validated p.R650I 0.974 344 0.9% 355 27.9% 0 - unknown(0) tolerated(0.19) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100131479 100131479 genome.wustl.edu 37 19 23779741 23779741 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001719802.1 +1 model p.S155Y 0.045 41 0% 32 15.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF675 171392 genome.wustl.edu 37 19 23837169 23837169 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138330.2 -1 validated p.R189Q 0.000 127 0% 123 10.6% 1 0% benign(0.003) tolerated(1) - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF726 730087 genome.wustl.edu 37 19 24115410 24115410 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000322487 +1 known p.K164N 0.976 55 0% 50 44% 0 - possibly_damaging(0.625) tolerated(0.22) neutral(0.260) superfamily_C2H2 and C2HC zinc fingers ZNF726 730087 genome.wustl.edu 37 19 24116244 24116244 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000322487 +1 known p.E442D 0.800 217 0% 177 33.3% 0 - benign(0.007) tolerated(0.46) neutral(0.012) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF254 9534 genome.wustl.edu 37 19 24310052 24310052 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203282.2 +1 validated p.R417Q 0.029 286 0% 294 46.3% 3 100% benign(0.234) tolerated(0.45) neutral(0.036) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF254 9534 genome.wustl.edu 37 19 24310358 24310358 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203282.2 +1 validated p.K519R 0.182 480 0% 503 25.4% 3 33.3% possibly_damaging(0.765) tolerated(0.05) deleterious(0.629) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CCNE1 898 genome.wustl.edu 37 19 30303907 30303907 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001238.1 +1 reviewed p.K48T 1.000 38 0% 35 20% 5 40% possibly_damaging(0.532) tolerated(0.26) neutral(0.214) NULL URI1 8725 genome.wustl.edu 37 19 30496308 30496308 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003796.2 +1 reviewed p.K136N 1.000 136 0% 104 26.9% 4 25% possibly_damaging(0.931) tolerated(0.19) neutral(0.427) HMMPfam_Prefoldin,superfamily_Prefoldin URI1 8725 genome.wustl.edu 37 19 30499948 30499948 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003796.2 +1 reviewed p.T241 0.000 108 0% 61 26.2% 37 51.3% - - - NULL URI1 8725 genome.wustl.edu 37 19 30505958 30505958 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003796.2 +1 reviewed p.R530S 0.998 690 0% 424 22.6% 13 7.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF507 22847 genome.wustl.edu 37 19 32845208 32845208 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001136156.1 +1 validated p.R491Q 0.993 132 0% 139 21.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF507 22847 genome.wustl.edu 37 19 32873797 32873797 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001136156.1 +1 validated p.S890 0.921 122 0% 153 22.9% 0 - - - - NULL ANKRD27 84079 genome.wustl.edu 37 19 33096837 33096837 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032139.2 -1 validated p.S799 0.000 71 0% 50 18% 2 50% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANKRD27 84079 genome.wustl.edu 37 19 33140596 33140596 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032139.2 -1 validated p.N69H 0.989 80 0% 99 20.2% 0 - probably_damaging(0.979) tolerated(0.08) deleterious(0.722) NULL SLC7A9 11136 genome.wustl.edu 37 19 33353113 33353113 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001126335.1 -1 reviewed p.K205N 0.924 100 0% 81 21% 1 0% benign(0.002) tolerated(0.09) neutral(0.296) HMMPfam_AA_permease GPATCH1 55094 genome.wustl.edu 37 19 33617535 33617535 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018025.2 +1 provisional p.K887N 1.000 93 0% 109 29.4% 3 33.3% unknown(0) deleterious(0) - NULL RPS4XP21 126235 genome.wustl.edu 37 19 34513780 34513780 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000334591 -1 known p.R191I 1.000 53 0% 39 30.8% 0 - - - - NULL LSM14A 26065 genome.wustl.edu 37 19 34699863 34699863 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001114093.1 +1 validated p.E149K 1.000 81 0% 79 24.1% 57 47.3% benign(0.022) tolerated(0.5) neutral(0.011) NULL PDCD2L 84306 genome.wustl.edu 37 19 34900381 34900381 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032346.1 +1 provisional p.E218* 1.000 81 0% 95 25.3% 8 0% - - - HMMPfam_PDCD2_C ZNF302 55900 genome.wustl.edu 37 19 35175465 35175465 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001012320.1 +1 validated p.N175H 0.616 180 0% 183 38.3% 0 - probably_damaging(0.992) deleterious(0.03) deleterious(0.812) NULL ZNF181 339318 genome.wustl.edu 37 19 35232274 35232274 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001029997.3 +1 validated p.F330V 0.999 120 0% 126 27.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00614,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF181 339318 genome.wustl.edu 37 19 35232812 35232812 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001029997.3 +1 validated p.R509I 0.999 113 0% 126 25.4% 1 100% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00614,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LGI4 163175 genome.wustl.edu 37 19 35616231 35616231 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139284.2 -1 validated p.L494M 1.000 17 0% 20 30% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL FFAR3 2865 genome.wustl.edu 37 19 35862721 35862721 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000246538 +1 known p.E154* 0.020 58 0% 48 16.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 SBSN 374897 genome.wustl.edu 37 19 36018884 36018884 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198538.3 -1 validated p.E100D 0.000 64 0% 81 28.4% 3 66.6% possibly_damaging(0.887) tolerated(0.61) neutral(0.351) NULL ATP4A 495 genome.wustl.edu 37 19 36050924 36050924 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000704.2 -1 reviewed p.R280H 1.000 124 0% 173 34.7% 0 - benign(0.314) deleterious(0.03) neutral(0.463) HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF81665 UPK1A 11045 genome.wustl.edu 37 19 36166745 36166745 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007000.2 +1 reviewed p.E158* 0.984 15 0% 24 45.8% 0 - - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin MLL4 9757 genome.wustl.edu 37 19 36221616 36221616 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014727.1 +1 reviewed p.R1762H 1.000 46 0% 63 38.1% 3 66.6% probably_damaging(0.978) - - HMMPfam_FYRN,HMMSmart_SM00541 C19orf55 148137 genome.wustl.edu 37 19 36258938 36258938 + Frame_Shift_Del DEL G G - rs139446374 byCluster;by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039887.1 +1 predicted p.G398fs 0.903 - - - - - - - - - NULL NPHS1 4868 genome.wustl.edu 37 19 36334378 36334378 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004646.3 -1 reviewed p.R777I 0.970 277 0% 206 20.9% 0 - probably_damaging(0.963) deleterious(0.02) deleterious(0.788) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin TBCB 1155 genome.wustl.edu 37 19 36607038 36607038 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001281.2 +1 validated p.E70D 0.997 43 0% 59 18.6% 218 32.1% benign(0) tolerated(0.91) - superfamily_SSF54236 ZNF565 147929 genome.wustl.edu 37 19 36685205 36685205 + Silent SNP G G A rs139103330 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042474.1 -1 validated p.V54 0.993 40 0% 47 19.1% 0 - - - - HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF146 7705 genome.wustl.edu 37 19 36727929 36727929 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099638.1 +1 validated p.R196Q 0.863 170 0% 215 24.2% 21 9.5% benign(0.039) tolerated(0.24) neutral(0.040) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP14 57677 genome.wustl.edu 37 19 36831826 36831826 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020917.1 -1 provisional p.R301H 0.000 314 0% 246 15.4% 0 - probably_damaging(0.991) tolerated(0.11) deleterious(0.716) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP14 57677 genome.wustl.edu 37 19 36832145 36832145 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020917.1 -1 provisional p.T195A 1.000 324 0% 291 30.2% 0 - benign(0.058) deleterious(0.04) neutral(0.352) superfamily_SSF57667 ZFP14 57677 genome.wustl.edu 37 19 36832459 36832459 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020917.1 -1 provisional p.S90Y 0.995 196 0% 136 25% 0 - possibly_damaging(0.8) tolerated(1) neutral(0.301) NULL ZFP82 284406 genome.wustl.edu 37 19 36883749 36883749 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133466.2 -1 provisional p.R498I 1.000 195 0.5% 206 33% 0 - possibly_damaging(0.818) deleterious(0) deleterious(0.754) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF260 339324 genome.wustl.edu 37 19 37005705 37005706 + Frame_Shift_Ins INS - - A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001012756.2 -1 validated p.N145fs 0.019:0.055 - - - - - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF529 57711 genome.wustl.edu 37 19 37038298 37038298 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145649.1 -1 validated p.H388N 1.000 408 0% 436 27.3% 1 100% probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF529 57711 genome.wustl.edu 37 19 37038767 37038767 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145649.1 -1 validated p.E231 0.803 232 0% 200 29.5% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF529 57711 genome.wustl.edu 37 19 37038923 37038923 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145649.1 -1 validated p.V179 0.000 217 0% 153 24.2% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF382 84911 genome.wustl.edu 37 19 37117073 37117073 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032825.3 +1 validated p.E92* 0.361 137 0% 144 31.9% 0 - - - - NULL ZNF382 84911 genome.wustl.edu 37 19 37118082 37118082 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032825.3 +1 validated p.R428I 1.000 200 0% 250 30.4% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF382 84911 genome.wustl.edu 37 19 37118166 37118166 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032825.3 +1 validated p.R456I 1.000 234 0% 233 26.2% 1 100% probably_damaging(0.997) tolerated(0.09) deleterious(0.762) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF420 147923 genome.wustl.edu 37 19 37618315 37618315 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144689.3 +1 provisional p.C141Y 0.998 171 0% 180 25% 0 - probably_damaging(0.987) deleterious(0.02) deleterious(0.820) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF585A 199704 genome.wustl.edu 37 19 37642535 37642535 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152655.2 -1 validated p.V701I 0.035 294 0% 368 32.9% 0 - possibly_damaging(0.751) tolerated(0.41) neutral(0.291) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF585A 199704 genome.wustl.edu 37 19 37643003 37643003 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152655.2 -1 validated p.H545N 1.000 436 0% 435 21.1% 2 50% probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF569 148266 genome.wustl.edu 37 19 37903864 37903864 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152484.2 -1 validated p.N566D 0.465 246 0% 318 25.8% 0 - benign(0.033) tolerated(0.1) neutral(0.288) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF570 148268 genome.wustl.edu 37 19 37975736 37975736 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144694.1 +1 provisional p.H404Q 0.996 289 0% 279 17.6% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF793 390927 genome.wustl.edu 37 19 38028286 38028286 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013659.2 +1 validated p.F242 0.038 41 0% 64 23.4% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF540 163255 genome.wustl.edu 37 19 38103793 38103793 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152606.3 +1 validated p.L538I 0.013 289 0% 244 16.8% 0 - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP30 22835 genome.wustl.edu 37 19 38125985 38125985 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014898.2 -1 validated p.R486K 1.000 183 0% 170 27.1% 0 - benign(0.003) tolerated(0.18) neutral(0.056) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP30 22835 genome.wustl.edu 37 19 38127119 38127119 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014898.2 -1 validated p.R108I 0.821 159 0% 168 35.7% 0 - probably_damaging(0.996) tolerated(0.21) deleterious(0.506) NULL ZNF781 163115 genome.wustl.edu 37 19 38160892 38160892 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152605.3 -1 validated p.R53Q 0.001 289 0% 292 25.3% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF607 84775 genome.wustl.edu 37 19 38189206 38189206 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032689.4 -1 validated p.R609I 1.000 142 0% 193 12.4% 0 - benign(0.38) deleterious(0.03) deleterious(0.486) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF607 84775 genome.wustl.edu 37 19 38189264 38189264 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032689.4 -1 validated p.E590* 0.024 116 0% 147 33.3% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF607 84775 genome.wustl.edu 37 19 38189879 38189879 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032689.4 -1 validated p.G385S 0.988 262 0% 359 19.2% 0 - benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF607 84775 genome.wustl.edu 37 19 38190046 38190046 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032689.4 -1 validated p.R329I 0.996 373 0% 461 25.4% 0 - benign(0.38) deleterious(0) deleterious(0.566) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF573 126231 genome.wustl.edu 37 19 38230606 38230606 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152360.3 -1 validated p.R204I 0.002 317 0% 431 27.6% 0 - possibly_damaging(0.683) tolerated(0.51) neutral(0.253) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 KCNK6 9424 genome.wustl.edu 37 19 38817923 38817923 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004823.1 +1 reviewed p.P274 0.000 14 0% 51 25.5% 21 19% - - - NULL CATSPERG 57828 genome.wustl.edu 37 19 38851131 38851131 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000215069 +1 known p.S493Y 1.000 72 0% 92 23.9% 0 - possibly_damaging(0.85) deleterious(0) deleterious(0.772) NULL RYR1 6261 genome.wustl.edu 37 19 38956907 38956907 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000540.2 +1 reviewed p.R1016Q 1.000 31 0% 43 20.9% 0 - probably_damaging(0.968) - - HMMPfam_RyR RYR1 6261 genome.wustl.edu 37 19 38959988 38959988 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000540.2 +1 reviewed p.H1200 0.997 85 0% 100 23% 0 - - - - HMMPfam_SPRY,HMMSmart_SM00449 RYR1 6261 genome.wustl.edu 37 19 39025374 39025374 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000540.2 +1 reviewed p.E3758D 1.000 29 0% 37 32.4% 0 - probably_damaging(0.992) - - NULL RYR1 6261 genome.wustl.edu 37 19 39033991 39033991 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000540.2 +1 reviewed p.F3898L 1.000 141 0% 171 23.4% 0 - probably_damaging(0.962) - - HMMPfam_RIH_assoc RYR1 6261 genome.wustl.edu 37 19 39058516 39058516 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000540.2 +1 reviewed p.E4540K 1.000 65 0% 87 27.6% 0 - unknown(0) - - HMMPfam_RR_TM4-6 RYR1 6261 genome.wustl.edu 37 19 39061315 39061315 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000540.2 +1 reviewed p.F4576L 1.000 137 0% 157 24.2% 0 - unknown(0) - - HMMPfam_RR_TM4-6 EIF3K 27335 genome.wustl.edu 37 19 39123130 39123130 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013234.2 +1 validated p.R139* 1.000 91 0% 128 14.1% 389 0.7% - - - "HMMPfam_SAC3_GANP,superfamily_""Winged helix"" DNA-binding domain" SYCN 342898 genome.wustl.edu 37 19 39694552 39694552 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080468.2 -1 provisional p.R115C 0.702 9 0.000 18 0.278 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PAF1 54623 genome.wustl.edu 37 19 39880164 39880164 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019088.2 -1 provisional p.E105D 1.000 57 0% 37 21.6% 20 15% probably_damaging(0.972) deleterious(0.04) deleterious(0.763) HMMPfam_Paf1 SUPT5H 6829 genome.wustl.edu 37 19 39949490 39949490 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001111020.2 +1 validated p.D118Y 1.000 112 0% 160 11.9% 31 12.9% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL SUPT5H 6829 genome.wustl.edu 37 19 39964630 39964630 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001111020.2 +1 validated p.F840 1.000 219 0% 232 27.6% 187 52.4% - - - NULL DYRK1B 9149 genome.wustl.edu 37 19 40317936 40317936 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004714.1 -1 reviewed p.E362* 1.000 45 0% 53 22.6% 11 0% - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DYRK1B 9149 genome.wustl.edu 37 19 40321396 40321396 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004714.1 -1 reviewed p.R31W 0.906 38 0% 34 23.5% 11 9% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ZNF546 339327 genome.wustl.edu 37 19 40520223 40520223 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178544.3 +1 validated p.R349I 1.000 160 0% 141 31.9% 0 - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF780B 163131 genome.wustl.edu 37 19 40540685 40540685 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000331800 -1 known p.R110* 1.000 405 0% 435 26% 0 - benign(0.013) tolerated(0.07) neutral(0.320) NULL ZNF780B 163131 genome.wustl.edu 37 19 40542143 40542143 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005851.2 -1 validated p.L208R 0.071 293 0% 318 19.5% 0 - probably_damaging(0.993) deleterious(0.03) deleterious(0.815) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SPTBN4 57731 genome.wustl.edu 37 19 41008082 41008082 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020971.2 +1 reviewed p.E315 1.000 25 0% 34 29.4% 0 - - - - HMMPfam_Spectrin,superfamily_Spectrin repeat SPTBN4 57731 genome.wustl.edu 37 19 41038566 41038566 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020971.2 +1 reviewed p.A1328V 1.000 72 0% 95 33.7% 0 - possibly_damaging(0.893) deleterious(0) deleterious(0.796) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat LTBP4 8425 genome.wustl.edu 37 19 41123099 41123099 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042544.1 +1 reviewed p.T1080M 1.000 11 0% 18 44.4% 19 0% - - - HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin CYP2A6 1548 genome.wustl.edu 37 19 41354259 41354259 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000762.5 -1 reviewed p.F173 1.000 152 0% 125 34.4% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP2A6 1548 genome.wustl.edu 37 19 41354520 41354520 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000762.5 -1 reviewed p.G164 0.000 48 0% 59 28.8% 1 0% - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP2A7 1549 genome.wustl.edu 37 19 41382433 41382433 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000764.2 -1 reviewed p.I434 0.993 178 0% 169 20.1% 1 0% - - - HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450 CYP2B7P1 1556 genome.wustl.edu 37 19 41444969 41444969 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NR_001278.1 +1 provisional NULL 0.000 121 0% 123 26% 0 - - - - - CYP2B7P1 1556 genome.wustl.edu 37 19 41450344 41450344 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NR_001278.1 +1 provisional NULL 1.000 158 0% 161 24.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) - CYP2A13 1553 genome.wustl.edu 37 19 41600325 41600325 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000766.3 +1 reviewed p.F383L 0.239 74 0% 102 26.5% 0 - probably_damaging(0.966) deleterious(0) deleterious(0.853) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2A13 1553 genome.wustl.edu 37 19 41600885 41600885 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000766.3 +1 reviewed p.L395M 1.000 217 0% 193 12.4% 0 - benign(0.122) deleterious(0.02) neutral(0.393) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2A13 1553 genome.wustl.edu 37 19 41601774 41601774 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000766.3 +1 reviewed p.I471 0.721 95 0% 93 35.5% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 AXL 558 genome.wustl.edu 37 19 41748850 41748850 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021913.3 +1 reviewed p.V459M 0.993 64 0% 81 24.7% 7 0% possibly_damaging(0.801) tolerated(0.1) deleterious(0.588) NULL ENSG00000229113 0 genome.wustl.edu 37 19 42027564 42027564 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000439847 -1 known p.S240Y 0.366 285 0% 294 29.6% 2 0% - - - NULL ENSG00000229113 0 genome.wustl.edu 37 19 42027855 42027855 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000439847 -1 known p.E143D 0.015 159 0% 178 23.6% 0 - - - - NULL CEACAM6 4680 genome.wustl.edu 37 19 42266025 42266025 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002483.4 +1 validated p.L284 0.989 184 0% 120 28.3% 1 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin LYPD4 147719 genome.wustl.edu 37 19 42343090 42343090 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173506.4 -1 validated p.A26T 0.569 118 0% 162 26.5% 0 - probably_damaging(0.998) tolerated(0.16) deleterious(0.534) NULL LYPD4 147719 genome.wustl.edu 37 19 42343317 42343317 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173506.4 -1 validated p.L15I 0.891 93 0% 140 24.3% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL ATP1A3 478 genome.wustl.edu 37 19 42473718 42473718 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152296.3 -1 reviewed p.L853F 0.989 104 0% 198 33.8% 0 - benign(0.087) tolerated(0.24) neutral(0.044) HMMPfam_Cation_ATPase_C,superfamily_SSF81665 GRIK5 2901 genome.wustl.edu 37 19 42563671 42563671 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002088.3 -1 reviewed p.R173* 1.000 69 0% 141 29.1% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I POU2F2 5452 genome.wustl.edu 37 19 42599544 42599544 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002698.2 -1 validated p.R326H 1.000 35 0% 19 21.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 MEGF8 1954 genome.wustl.edu 37 19 42854409 42854409 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001410.2 +1 validated p.A803V 0.971 17 0% 27 37% 2 100% benign(0.002) tolerated(0.29) neutral(0.029) HMMSmart_PSI,PatternScan_C_TYPE_LECTIN_1 LIPE 3991 genome.wustl.edu 37 19 42911583 42911583 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005357.2 -1 reviewed p.G627D 0.997 18 0% 28 46.4% 4 25% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) superfamily_alpha/beta-Hydrolases PSG4 5672 genome.wustl.edu 37 19 43708205 43708205 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002780.3 -1 validated p.R88I 0.000 998 0% 1083 31.9% 6 0% benign(0) tolerated(0.23) neutral(0.042) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin PSG9 5678 genome.wustl.edu 37 19 43763081 43763081 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002784.3 -1 validated p.G306* 0.980 375 0% 406 23.6% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin CADM4 199731 genome.wustl.edu 37 19 44127538 44127538 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145296.1 -1 validated p.E371* 1.000 151 0% 202 19.3% 48 31.2% - - - NULL PLAUR 5329 genome.wustl.edu 37 19 44153254 44153254 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002659.2 -1 reviewed p.A266T 0.268 50 2% 76 30.3% 859 49.3% benign(0.003) tolerated(0.12) neutral(0.261) HMMPfam_UPAR_LY6,HMMSmart_SM00134,PatternScan_LY6_UPAR,superfamily_Snake toxin-like ZNF404 342908 genome.wustl.edu 37 19 44376937 44376938 + Frame_Shift_Ins INS - - A rs76311065 byCluster;byFrequency;by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001033719.2 -1 validated p.R476fs 0.002:0.604 - - - - - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF221 7638 genome.wustl.edu 37 19 44470827 44470827 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013359.2 +1 validated p.E391D 1.000 273 0% 289 29.4% 0 - benign(0) deleterious(0.03) neutral(0.364) superfamily_C2H2 and C2HC zinc fingers ZNF230 7773 genome.wustl.edu 37 19 44515209 44515209 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006300.3 +1 validated p.E340* 0.005 283 0% 234 23.5% 5 60% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF284 342909 genome.wustl.edu 37 19 44586167 44586167 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037813.2 +1 provisional p.G48 0.001 206 0% 232 19.4% 0 - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF224 7767 genome.wustl.edu 37 19 44611935 44611935 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013398.2 +1 validated p.N541T 0.000 305 0% 216 31.5% 6 66.6% possibly_damaging(0.466) deleterious(0.03) deleterious(0.517) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF224 7767 genome.wustl.edu 37 19 44612040 44612040 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013398.2 +1 validated p.R576I 0.005 295 0% 204 32.8% 3 33.3% benign(0.002) deleterious(0.05) neutral(0.345) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF226 7769 genome.wustl.edu 37 19 44677088 44677088 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001032372.1 +1 validated p.R73Q 0.002 45 0% 31 25.8% 1 100% benign(0) tolerated(0.63) neutral(0.004) NULL ZNF226 7769 genome.wustl.edu 37 19 44681795 44681795 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001032372.1 +1 validated p.E794* 0.765 101 0% 106 29.2% 1 0% - - - NULL ZNF227 7770 genome.wustl.edu 37 19 44739210 44739210 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182490.1 +1 provisional p.K209N 0.000 157 0% 112 36.6% 1 0% probably_damaging(0.958) tolerated(0.5) neutral(0.412) NULL ZFP112 7771 genome.wustl.edu 37 19 44831743 44831743 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001083335.1 -1 validated p.K862T 0.001 324 0% 364 21.4% 0 - benign(0) tolerated(0.44) neutral(0.013) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP112 7771 genome.wustl.edu 37 19 44833374 44833374 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001083335.1 -1 validated p.L318 0.001 187 0% 142 39.4% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF285 26974 genome.wustl.edu 37 19 44891009 44891009 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152354.3 -1 validated p.A466 0.000 202 0% 154 25.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF285 26974 genome.wustl.edu 37 19 44892202 44892202 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152354.3 -1 validated p.E69* 0.161 256 0% 153 28.8% 0 - - - - NULL ZNF229 7772 genome.wustl.edu 37 19 44933081 44933081 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014518.2 -1 validated p.E625D 1.000 196 0% 201 32.3% 0 - possibly_damaging(0.899) deleterious(0.01) deleterious(0.762) superfamily_C2H2 and C2HC zinc fingers ZNF180 7733 genome.wustl.edu 37 19 44981076 44981076 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013256.3 -1 validated p.R541I 1.000 599 0% 442 33.7% 1 0% probably_damaging(0.967) deleterious(0) deleterious(0.853) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF180 7733 genome.wustl.edu 37 19 44981412 44981412 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013256.3 -1 validated p.R429I 1.000 546 0% 401 26.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF180 7733 genome.wustl.edu 37 19 44981496 44981496 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013256.3 -1 validated p.R401I 1.000 523 0% 364 12.4% 3 33.3% possibly_damaging(0.816) deleterious(0) deleterious(0.753) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CEACAM19 56971 genome.wustl.edu 37 19 45186731 45186731 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020219.3 +1 validated p.A291V 0.998 13 0% 10 60% 3 66.6% possibly_damaging(0.711) tolerated(0.11) deleterious(0.528) NULL BCAM 4059 genome.wustl.edu 37 19 45322117 45322117 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005581.3 +1 reviewed p.Q438H 0.731 58 0% 108 24.1% 217 35.9% possibly_damaging(0.496) tolerated(0.06) deleterious(0.488) superfamily_SSF48726 ERCC1 2067 genome.wustl.edu 37 19 45924573 45924573 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_202001.2 -1 reviewed p.E62K 0.966 67 0% 132 31.1% 63 31.7% possibly_damaging(0.611) deleterious(0.03) deleterious(0.576) NULL PPM1N 147699 genome.wustl.edu 37 19 46002433 46002433 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080401.1 +1 provisional p.D235N 0.998 14 0% 15 53.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C OPA3 80207 genome.wustl.edu 37 19 46032560 46032560 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001017989.2 -1 reviewed p.L99 1.000 68 0% 133 27.8% 2 0% - - - HMMPfam_OPA3 PRKD2 25865 genome.wustl.edu 37 19 47178365 47178365 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001079880.1 -1 reviewed p.L783 1.000 44 0% 77 36.4% 172 33.1% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ARHGAP35 2909 genome.wustl.edu 37 19 47422387 47422387 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004491.4 +1 reviewed p.D152G 1.000 133 0% 107 36.4% 1 0% benign(0.055) deleterious(0.01) neutral(0.409) superfamily_P-loop containing nucleoside triphosphate hydrolases DHX34 9704 genome.wustl.edu 37 19 47856439 47856439 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014681.5 +1 reviewed p.R51H 1.000 62 0% 124 27.4% 0 - probably_damaging(0.974) tolerated(0.07) deleterious(0.735) NULL ENSG00000245602 0 genome.wustl.edu 37 19 47998565 47998565 + RNA SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000500835 +1 known NULL 0.001 16 0% 10 40% 0 - - - - - LIG1 3978 genome.wustl.edu 37 19 48626528 48626528 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000234.1 -1 reviewed p.E684D 1.000 20 0% 37 45.9% 38 34.2% benign(0) tolerated(0.08) neutral(0.300) HMMPfam_DNA_ligase_A_M,superfamily_DNA ligase/mRNA capping enzyme catalytic domain CARD8 22900 genome.wustl.edu 37 19 48733712 48733712 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014959.3 -1 reviewed p.D234N 0.053 185 0% 205 27.8% 13 46.1% benign(0.006) deleterious(0) neutral(0.445) NULL LMTK3 114783 genome.wustl.edu 37 19 48989036 48989036 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080434.1 -1 provisional p.E1488D 1.000 16 0% 25 32% 4 50% unknown(0) deleterious(0) - NULL NUCB1 4924 genome.wustl.edu 37 19 49407646 49407646 + Missense_Mutation SNP G G A rs185346087 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006184.5 +1 reviewed p.D60N 0.989 20 0% 21 33.3% 120 38.3% benign(0) tolerated(0.48) neutral(0.011) NULL FTL 2512 genome.wustl.edu 37 19 49469878 49469878 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000146.3 +1 reviewed p.E138D 1.000 116 0% 115 26.1% 5665 34.5% benign(0.025) deleterious(0) neutral(0.446) HMMPfam_Ferritin,superfamily_Ferritin/RR_like,PatternScan_FERRITIN_2 PPFIA3 8541 genome.wustl.edu 37 19 49643285 49643285 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003660.2 +1 reviewed p.L770I 0.999 171 0% 177 16.9% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL TEAD2 8463 genome.wustl.edu 37 19 49850530 49850530 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003598.1 -1 provisional p.D276N 1.000 83 1.2% 92 28.3% 29 37.9% possibly_damaging(0.948) deleterious(0) deleterious(0.836) HMMPfam_TEA ALDH16A1 126133 genome.wustl.edu 37 19 49967136 49967136 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153329.3 +1 reviewed p.S375L 0.000 118 0% 199 30.2% 62 27.4% probably_damaging(0.963) tolerated(0.08) deleterious(0.706) HMMPfam_Aldedh,superfamily_ALDH-like TSKS 60385 genome.wustl.edu 37 19 50245277 50245277 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021733.1 -1 reviewed p.S454 1.000 41 0% 69 29% 0 - - - - NULL SIGLEC11 114132 genome.wustl.edu 37 19 50463969 50463969 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000426971 -1 known p.G90E 0.000 97 0% 102 16.7% 0 - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ZNF473 25888 genome.wustl.edu 37 19 50547943 50547943 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001006656.1 +1 validated p.K81N 0.001 134 0% 164 21.3% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL LOC100287477 100287477 genome.wustl.edu 37 19 50563046 50563046 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343656.1 -1 model p.E205* 0.000 24 0% 36 30.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MYBPC2 4606 genome.wustl.edu 37 19 50957549 50957549 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004533.3 +1 validated p.R646H 0.965 59 0% 108 24.1% 13 7.6% benign(0.043) tolerated(0.05) neutral(0.348) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like SHANK1 50944 genome.wustl.edu 37 19 51175333 51175333 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016148.2 -1 validated p.Y872 0.889 13 0% 16 43.8% 0 - - - - NULL KLK15 55554 genome.wustl.edu 37 19 51329967 51329967 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017509.2 -1 reviewed p.S176 0.000 217 0% 262 34% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KLK8 11202 genome.wustl.edu 37 19 51503695 51503695 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144505.1 -1 reviewed p.A117V 1.000 56 0% 105 30.5% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys,PatternScan_TRYPSIN_HIS SIGLEC8 27181 genome.wustl.edu 37 19 51958774 51958774 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014442.2 -1 validated p.R317* 0.000 24 0% 37 29.7% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin SIGLEC12 89858 genome.wustl.edu 37 19 52001489 52001489 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_053003.2 -1 reviewed p.S396 0.284 44 0% 47 29.8% 8 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin SIGLEC12 89858 genome.wustl.edu 37 19 52003462 52003462 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_053003.2 -1 reviewed p.L174I 0.001 137 0% 152 27.6% 0 - benign(0.125) tolerated(0.41) neutral(0.026) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ZNF175 7728 genome.wustl.edu 37 19 52091068 52091068 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007147.2 +1 validated p.R495L 0.994 162 0% 163 27% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287831 100287831 genome.wustl.edu 37 19 52249969 52249969 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343694.1 +1 model p.E183K 0.889 202 0% 210 26.7% 8 0% - - - NULL ZNF649 65251 genome.wustl.edu 37 19 52394796 52394796 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023074.3 -1 validated p.R198I 0.001 420 0% 360 26.1% 2 0% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF613 79898 genome.wustl.edu 37 19 52447907 52447907 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001031721.3 +1 validated p.E257D 0.999 313 0% 320 34.7% 0 - benign(0) tolerated(0.06) neutral(0.323) superfamily_C2H2 and C2HC zinc fingers ZNF615 284370 genome.wustl.edu 37 19 52496986 52496986 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198480.2 -1 provisional p.R448L 0.126 134 0% 130 25.4% 0 - probably_damaging(0.975) tolerated(0.3) neutral(0.446) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF432 9668 genome.wustl.edu 37 19 52537418 52537418 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014650.2 -1 provisional p.R505Q 1.000 237 0% 180 37.8% 3 33.3% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF432 9668 genome.wustl.edu 37 19 52537833 52537833 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014650.2 -1 provisional p.H367N 1.000 403 0% 274 29.2% 2 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF432 9668 genome.wustl.edu 37 19 52538418 52538418 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014650.2 -1 provisional p.E172* 0.000 167 0% 88 17% 0 - - - - NULL ZNF841 284371 genome.wustl.edu 37 19 52568469 52568469 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001136499.1 -1 validated p.R889H 0.000 82 0% 71 23.9% 5 60% probably_damaging(0.99) tolerated(0.57) neutral(0.448) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF841 284371 genome.wustl.edu 37 19 52568865 52568865 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001136499.1 -1 validated p.R757I 0.403 68 0% 71 35.2% 3 0% probably_damaging(0.997) tolerated(0.14) deleterious(0.716) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF841 284371 genome.wustl.edu 37 19 52570090 52570090 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001136499.1 -1 validated p.E349* 0.298 86 0% 76 26.3% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF616 90317 genome.wustl.edu 37 19 52619131 52619131 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178523.3 -1 validated p.R429I 0.002 313 0% 331 33.8% 0 - benign(0) tolerated(0.18) neutral(0.056) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52659012 52659012 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001102657.1 -1 provisional p.E642K 0.035 312 0% 321 24.9% 0 - probably_damaging(0.995) tolerated(0.09) deleterious(0.754) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52659776 52659776 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001102657.1 -1 provisional p.K387T 0.005 97 0% 140 32.1% 2 0% benign(0.183) tolerated(0.1) neutral(0.303) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF766 90321 genome.wustl.edu 37 19 52793496 52793496 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010851.2 +1 validated p.R151I 0.006 145 0% 182 47.3% 0 - benign(0.07) tolerated(0.29) neutral(0.034) superfamily_C2H2 and C2HC zinc fingers ZNF766 90321 genome.wustl.edu 37 19 52794000 52794000 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010851.2 +1 validated p.R319I 0.004 55 0% 79 16.5% 1 0% benign(0.393) tolerated(0.37) neutral(0.145) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF480 147657 genome.wustl.edu 37 19 52825339 52825339 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144684.2 +1 validated p.R279I 0.145 149 0% 152 28.9% 0 - possibly_damaging(0.951) tolerated(0.12) deleterious(0.655) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF480 147657 genome.wustl.edu 37 19 52825423 52825423 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144684.2 +1 validated p.R307I 0.000 169 0% 226 29.2% 0 - possibly_damaging(0.802) tolerated(0.13) deleterious(0.554) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF480 147657 genome.wustl.edu 37 19 52825759 52825759 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144684.2 +1 validated p.R419I 0.001 176 0% 251 33.5% 0 - benign(0.012) tolerated(0.06) neutral(0.323) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF480 147657 genome.wustl.edu 37 19 52825984 52825984 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144684.2 +1 validated p.R494Q 0.000 183 0% 217 28.6% 1 0% possibly_damaging(0.547) tolerated(0.33) neutral(0.209) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF880 400713 genome.wustl.edu 37 19 52887921 52887921 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001145434.1 +1 validated p.R363Q 0.000 132 0% 142 21.1% 0 - benign(0.056) tolerated(1) neutral(0.004) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF528 84436 genome.wustl.edu 37 19 52918687 52918687 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032423.2 +1 validated p.V194 0.002 211 0% 174 17.8% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF528 84436 genome.wustl.edu 37 19 52918941 52918941 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032423.2 +1 validated p.R279Q 0.001 225 0% 215 34.9% 0 - possibly_damaging(0.874) tolerated(0.11) deleterious(0.611) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF528 84436 genome.wustl.edu 37 19 52919872 52919872 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032423.2 +1 validated p.K589N 0.000 130 0% 133 28.6% 1 0% benign(0.043) tolerated(0.57) neutral(0.009) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF534 147658 genome.wustl.edu 37 19 52937238 52937238 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001143939.1 +1 validated p.E16* 0.997 220 0% 194 16.5% 0 - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF578 147660 genome.wustl.edu 37 19 53013992 53013992 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099694.1 +1 validated p.D120Y 0.007 404 0% 438 24.2% 0 - possibly_damaging(0.925) tolerated(0.17) neutral(0.432) NULL ZNF578 147660 genome.wustl.edu 37 19 53015142 53015142 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099694.1 +1 validated p.R503K 0.225 292 0% 282 22% 0 - benign(0.001) tolerated(0.76) neutral(0.001) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF83 55769 genome.wustl.edu 37 19 53116792 53116792 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001105549.1 -1 validated p.E342D 1.000 732 0% 506 24.9% 9 11.1% probably_damaging(0.989) deleterious(0.03) deleterious(0.804) superfamily_C2H2 and C2HC zinc fingers ZNF611 81856 genome.wustl.edu 37 19 53209139 53209139 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030972.3 -1 validated p.R390I 0.999 421 0% 352 27.6% 0 - possibly_damaging(0.701) tolerated(0.12) deleterious(0.512) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_Multiheme cytochromes,superfamily_C2H2 and C2HC zinc fingers ZNF611 81856 genome.wustl.edu 37 19 53209626 53209626 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030972.3 -1 validated p.E228* 0.891 629 0% 532 32.3% 1 0% - - - superfamily_C2H2 and C2HC zinc fingers ZNF600 162966 genome.wustl.edu 37 19 53269063 53269063 + Missense_Mutation SNP C C T rs192291135 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198457.2 -1 validated p.R649H 0.000 521 0% 472 24.8% 3 0% probably_damaging(0.997) tolerated(0.61) deleterious(0.470) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF600 162966 genome.wustl.edu 37 19 53270941 53270941 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198457.2 -1 validated p.R23I 0.004 903 0% 780 30% 0 - benign(0.419) deleterious(0.05) deleterious(0.481) NULL ZNF28 7576 genome.wustl.edu 37 19 53303622 53303622 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006969.2 -1 validated p.E439D 1.000 318 0% 357 15.4% 0 - benign(0.028) deleterious(0.01) neutral(0.407) superfamily_SSF57667 ZNF320 162967 genome.wustl.edu 37 19 53384558 53384558 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207333.2 -1 validated p.K274T 0.010 411 0% 426 22.5% 2 50% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC388559 388559 genome.wustl.edu 37 19 53410587 53410587 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_496322.5 -1 model p.E312* 0.000 186 0% 108 22.2% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF665 79788 genome.wustl.edu 37 19 53669096 53669096 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024733.3 -1 provisional p.T216N 0.000 274 0.4% 241 18.7% 0 - benign(0.002) tolerated(0.43) neutral(0.013) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF677 342926 genome.wustl.edu 37 19 53740251 53740251 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182609.2 -1 provisional p.K577E 0.001 52 0% 65 36.9% 0 - benign(0) tolerated(0.12) neutral(0.261) NULL BIRC8 112401 genome.wustl.edu 37 19 53793241 53793241 + Missense_Mutation SNP C C A rs71363320 byCluster;byFrequency TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033341.3 -1 validated p.K129N 0.990 334 0% 274 23.7% 0 - probably_damaging(0.985) deleterious(0.01) deleterious(0.838) superfamily_Inhibitor of apoptosis (IAP) repeat ZNF845 91664 genome.wustl.edu 37 19 53854464 53854464 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138374.1 +1 validated p.R179I 0.204 203 0% 237 26.6% 0 - benign(0.254) tolerated(0.31) neutral(0.053) NULL ZNF845 91664 genome.wustl.edu 37 19 53855064 53855064 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138374.1 +1 validated p.G379E 1.000 215 0% 259 27.4% 0 - probably_damaging(1) tolerated(0.15) deleterious(0.741) superfamily_C2H2 and C2HC zinc fingers ZNF845 91664 genome.wustl.edu 37 19 53855609 53855609 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138374.1 +1 validated p.R561C 0.001 178 0% 168 26.8% 1 0% probably_damaging(0.974) tolerated(0.05) deleterious(0.761) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF845 91664 genome.wustl.edu 37 19 53856832 53856832 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138374.1 +1 validated p.K968N 0.896 104 0% 91 26.4% 0 - benign(0) deleterious(0.03) neutral(0.364) superfamily_C2H2 and C2HC zinc fingers ZNF765 91661 genome.wustl.edu 37 19 53911764 53911764 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001040185.1 +1 provisional p.R319I 0.129 306 0% 349 30.1% 0 - benign(0.002) tolerated(0.16) neutral(0.059) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF761 388561 genome.wustl.edu 37 19 53959136 53959136 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008401.3 +1 validated p.R459C 0.000 283 0% 247 15.8% 5 20% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_Multiheme cytochromes ZNF813 126017 genome.wustl.edu 37 19 53995086 53995086 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004301.3 +1 validated p.R534* 0.001 264 0.4% 250 23.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MIR523 574471 genome.wustl.edu 37 19 54201686 54201686 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000385281 +1 known NULL 0.015 91 0% 101 15.8% 0 - - - - - MIR518C 574477 genome.wustl.edu 37 19 54212045 54212045 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000384822 +1 known NULL 0.020 228 0% 201 21.9% 0 - - - - - MIR520D 574482 genome.wustl.edu 37 19 54223397 54223397 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000385002 +1 known NULL 0.009 379 0% 340 25.6% 0 - - - - - NLRP12 91662 genome.wustl.edu 37 19 54313903 54313903 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144687.2 -1 reviewed p.S337Y 0.061 94 0% 79 21.5% 0 - probably_damaging(0.967) tolerated(0.19) neutral(0.458) HMMPfam_NACHT LILRB2 10288 genome.wustl.edu 37 19 54783780 54783780 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005874.3 -1 reviewed p.R74Q 0.000 110 0% 104 26.9% 6 0% benign(0.002) tolerated(0.42) neutral(0.014) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin LAIR1 3903 genome.wustl.edu 37 19 54872711 54872711 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002287.3 -1 reviewed p.R59H 0.118 164 0% 121 28.9% 5 0% probably_damaging(0.991) tolerated(0.13) deleterious(0.697) HMMSmart_SM00409,superfamily_Immunoglobulin KIR3DL3 115653 genome.wustl.edu 37 19 55247323 55247323 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153443.3 +1 reviewed p.R364I 0.000 471 0% 525 29.3% 0 - possibly_damaging(0.952) deleterious(0) deleterious(0.840) NULL KIR2DL3 3804 genome.wustl.edu 37 19 55255474 55255474 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015868.2 +1 reviewed p.S201Y 0.002 966 0% 1296 22.1% 0 - possibly_damaging(0.46) deleterious(0) deleterious(0.596) HMMSmart_SM00409,superfamily_Immunoglobulin KIR3DL1 3811 genome.wustl.edu 37 19 55331236 55331236 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013289.2 +1 reviewed p.L142M 0.043 538 0% 827 23.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin NCR1 9437 genome.wustl.edu 37 19 55424082 55424082 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004829.5 +1 validated p.A253V 0.002 391 0% 376 25.5% 0 - benign(0.022) tolerated(0.6) neutral(0.005) NULL NCR1 9437 genome.wustl.edu 37 19 55424405 55424405 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NR_027041.1 +1 validated NULL 0.000 36 2.8% 28 42.9% 3 0% - - - - NLRP2 55655 genome.wustl.edu 37 19 55493795 55493795 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017852.3 +1 validated p.F243L 0.196 50 0% 77 27.3% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases PTPRH 5794 genome.wustl.edu 37 19 55697724 55697724 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002842.3 -1 validated p.L883I 0.983 34 0% 41 39% 2 100% probably_damaging(0.998) tolerated(0.31) deleterious(0.501) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PPP6R1 22870 genome.wustl.edu 37 19 55756960 55756960 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014931.3 -1 validated p.R105Q 0.779 14 0% 16 25% 18 33.3% possibly_damaging(0.626) tolerated(0.17) neutral(0.277) NULL NLRP9 338321 genome.wustl.edu 37 19 56243505 56243505 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176820.2 -1 reviewed p.F564L 0.056 193 0% 225 22.7% 0 - benign(0.041) tolerated(0.85) neutral(0.003) NULL NLRP9 338321 genome.wustl.edu 37 19 56243998 56243998 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176820.2 -1 reviewed p.A400V 0.089 283 0% 468 28.4% 0 - benign(0.078) tolerated(0.49) neutral(0.016) NULL NLRP9 338321 genome.wustl.edu 37 19 56244557 56244557 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176820.2 -1 reviewed p.E214K 0.000 105 0% 152 36.8% 0 - benign(0.056) deleterious(0.04) neutral(0.352) HMMPfam_NACHT NLRP9 338321 genome.wustl.edu 37 19 56249463 56249463 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176820.2 -1 reviewed p.R93I 0.000 722 0.1% 956 28.5% 0 - probably_damaging(1) tolerated(0.16) deleterious(0.559) superfamily_DEATH domain NLRP4 147945 genome.wustl.edu 37 19 56369885 56369885 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_134444.4 +1 validated p.V376I 0.000 82 0% 79 11.4% 0 - benign(0) tolerated(1) - NULL NLRP13 126204 genome.wustl.edu 37 19 56407319 56407319 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176810.2 -1 validated p.L1042I 0.000 655 0% 523 21.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF52047 NLRP13 126204 genome.wustl.edu 37 19 56410298 56410298 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176810.2 -1 validated p.S932* 0.003 249 0% 193 13% 0 - - - - HMMPfam_LRR_1,superfamily_SSF52047 NLRP13 126204 genome.wustl.edu 37 19 56424650 56424650 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176810.2 -1 validated p.R178I 0.016 233 0% 181 28.7% 0 - probably_damaging(0.996) tolerated(0.33) deleterious(0.486) NULL NLRP8 126205 genome.wustl.edu 37 19 56466589 56466589 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_176811.2 +1 provisional p.L389I 0.483 188 0% 166 28.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NLRP5 126206 genome.wustl.edu 37 19 56538817 56538817 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153447.4 +1 reviewed p.I406 0.000 24 0% 28 32.1% 0 - - - - HMMPfam_NACHT,superfamily_SSF52540 ZSCAN5A 79149 genome.wustl.edu 37 19 56733492 56733492 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024303.1 -1 provisional p.E315K 0.006 92 0% 168 37.5% 2 0% benign(0.086) tolerated(0.41) neutral(0.021) NULL LOC646698 646698 genome.wustl.edu 37 19 56758571 56758571 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001725568.1 +1 model p.R400Q 0.946 31 0% 51 23.5% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000197025 0 genome.wustl.edu 37 19 56889229 56889229 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000356456 +1 known p.R205I 0.014 13 0.000 9 0.556 9 44.4% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF583 147949 genome.wustl.edu 37 19 56935071 56935071 + Silent SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152478.2 +1 validated p.G348 0.777 341 0% 303 25.4% 2 0% - - - superfamily_SSF57667 ZNF667 63934 genome.wustl.edu 37 19 56954107 56954107 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022103.3 -1 validated p.S86L 0.000 224 0% 153 22.2% 0 - benign(0) tolerated(0.91) - NULL ZNF471 57573 genome.wustl.edu 37 19 57027674 57027674 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020813.2 +1 validated p.D22Y 0.117 276 0% 267 30.7% 0 - possibly_damaging(0.697) tolerated(0.1) deleterious(0.536) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF471 57573 genome.wustl.edu 37 19 57036400 57036400 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020813.2 +1 validated p.E322* 0.716 220 0% 236 30.5% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP28 140612 genome.wustl.edu 37 19 57065912 57065912 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020828.1 +1 provisional p.E586D 0.997 310 0% 286 31.5% 0 - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) superfamily_SSF57667 ZFP28 140612 genome.wustl.edu 37 19 57066064 57066064 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020828.1 +1 provisional p.R637I 0.941 247 0% 237 28.3% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF470 388566 genome.wustl.edu 37 19 57088297 57088297 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001668.3 +1 validated p.L167R 0.000 126 0% 133 28.6% 0 - possibly_damaging(0.586) tolerated(0.36) neutral(0.222) NULL PEG3 5178 genome.wustl.edu 37 19 57325989 57325989 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006210.2 -1 reviewed p.R1274I 0.901 190 0% 182 21.4% 0 - possibly_damaging(0.76) deleterious(0.02) deleterious(0.664) superfamily_C2H2 and C2HC zinc fingers PEG3 5178 genome.wustl.edu 37 19 57327439 57327439 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006210.2 -1 reviewed p.H791N 0.041 534 0% 543 29.5% 0 - possibly_damaging(0.677) deleterious(0.01) deleterious(0.647) NULL PEG3 5178 genome.wustl.edu 37 19 57327480 57327480 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006210.2 -1 reviewed p.S777F 0.006 587 0% 561 34.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PEG3 5178 genome.wustl.edu 37 19 57328602 57328602 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006210.2 -1 reviewed p.S403L 0.000 295 0% 260 26.5% 0 - probably_damaging(0.995) tolerated(0.16) deleterious(0.517) NULL USP29 57663 genome.wustl.edu 37 19 57641964 57641964 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020903.2 +1 validated p.G641S 0.000 93 0% 115 33.9% 0 - benign(0) tolerated(0.93) - HMMPfam_UCH,superfamily_SSF54001 USP29 57663 genome.wustl.edu 37 19 57642036 57642036 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020903.2 +1 validated p.D665Y 0.066 74 0% 87 27.6% 0 - possibly_damaging(0.939) deleterious(0.02) deleterious(0.768) HMMPfam_UCH,superfamily_SSF54001 ZIM3 114026 genome.wustl.edu 37 19 57646580 57646580 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052882.1 -1 provisional p.K375N 0.002 353 0% 439 24.8% 0 - possibly_damaging(0.436) deleterious(0.01) deleterious(0.547) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF264 9422 genome.wustl.edu 37 19 57723831 57723831 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003417.4 +1 reviewed p.E456K 0.001 130 0% 110 26.4% 1 0% probably_damaging(1) tolerated(0.31) deleterious(0.527) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF304 57343 genome.wustl.edu 37 19 57868101 57868101 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020657.2 +1 validated p.F288L 0.005 261 0% 214 35% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF304 57343 genome.wustl.edu 37 19 57869092 57869092 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020657.2 +1 validated p.E619K 0.000 263 0% 222 27.9% 2 0% benign(0) tolerated(0.12) neutral(0.261) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100288507 100288507 genome.wustl.edu 37 19 57955623 57955623 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343700.1 -1 model p.E251K 0.000 502 0% 435 26% 1 0% - - - NULL ZNF749 388567 genome.wustl.edu 37 19 57956278 57956278 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001023561.2 +1 provisional p.E588* 0.027 567 0% 460 31.1% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF773 374928 genome.wustl.edu 37 19 58018351 58018351 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198542.1 +1 provisional p.I296 0.152 447 0% 594 13.1% 4 75% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF549 256051 genome.wustl.edu 37 19 58049504 58049504 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153263.1 +1 provisional p.R365* 0.000 189 0% 145 34.5% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF549 256051 genome.wustl.edu 37 19 58049696 58049696 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153263.1 +1 provisional p.E429K 1.000 194 0% 168 27.4% 0 - probably_damaging(0.966) deleterious(0.05) deleterious(0.753) superfamily_C2H2 and C2HC zinc fingers ZIK1 284307 genome.wustl.edu 37 19 58102389 58102389 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001010879.2 +1 provisional p.E404* 1.000 204 0% 249 23.3% 0 - - - - superfamily_Multiheme cytochromes,superfamily_C2H2 and C2HC zinc fingers LOC100130710 100130710 genome.wustl.edu 37 19 58152997 58152997 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001718544.2 -1 model p.V199I 0.000 398 0% 222 23.9% 2 0% - - - NULL ZSCAN4 201516 genome.wustl.edu 37 19 58187556 58187556 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152677.2 +1 validated p.E15K 0.000 91 0% 98 38.8% 0 - benign(0.1) tolerated(1) neutral(0.007) NULL ZSCAN4 201516 genome.wustl.edu 37 19 58187867 58187867 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152677.2 +1 validated p.F118L 0.357 105 0% 130 21.5% 0 - benign(0.03) tolerated(0.55) neutral(0.009) HMMPfam_SCAN ZNF551 90233 genome.wustl.edu 37 19 58198232 58198232 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138347.3 +1 validated p.E181K 0.000 122 0% 152 39.5% 0 - benign(0.156) tolerated(0.18) neutral(0.070) NULL ZNF671 79891 genome.wustl.edu 37 19 58232407 58232407 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024833.2 -1 validated p.F349L 0.278 112 0% 153 24.8% 0 - possibly_damaging(0.812) tolerated(0.41) neutral(0.321) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF586 54807 genome.wustl.edu 37 19 58290742 58290742 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017652.2 +1 validated p.E263* 0.012 156 0% 228 21.1% 2 50% - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF587 84914 genome.wustl.edu 37 19 58352355 58352355 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343662.1 +1 model p.L105V 0.000 95 0% 107 24.3% 0 - possibly_damaging(0.749) deleterious(0) deleterious(0.720) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF587 84914 genome.wustl.edu 37 19 58353906 58353906 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343662.1 +1 model p.R566C 0.000 117 0% 94 29.8% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF417 147687 genome.wustl.edu 37 19 58420279 58420279 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152475.2 -1 validated p.R456I 0.947 503 0% 472 28% 2 0% possibly_damaging(0.943) deleterious(0.01) deleterious(0.793) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF418 147686 genome.wustl.edu 37 19 58437519 58437519 + Nonstop_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133460.1 -1 provisional p.*677L 0.006 193 0% 231 19.5% 0 - - - - NULL ZNF418 147686 genome.wustl.edu 37 19 58437558 58437558 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133460.1 -1 provisional p.R664Q 0.000 244 0% 311 38.9% 0 - benign(0.242) tolerated(0.6) neutral(0.029) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF256 10172 genome.wustl.edu 37 19 58452702 58452702 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005773.2 -1 validated p.E492* 0.015 200 0% 359 25.3% 2 0% - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF606 80095 genome.wustl.edu 37 19 58490621 58490621 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025027.3 -1 validated p.R476I 1.000 128 0% 138 26.8% 0 - possibly_damaging(0.787) tolerated(0.16) neutral(0.354) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF329 79673 genome.wustl.edu 37 19 58639288 58639288 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024620.3 -1 validated p.R528Q 0.018 104 0% 112 26.8% 7 0% probably_damaging(0.971) tolerated(0.85) neutral(0.413) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF544 27300 genome.wustl.edu 37 19 58772991 58772991 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014480.2 +1 provisional p.S340Y 0.003 79 0% 77 24.7% 1 0% possibly_damaging(0.437) tolerated(0.32) neutral(0.166) NULL A1BG 1 genome.wustl.edu 37 19 58862993 58862993 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130786.3 -1 reviewed p.G225D 0.003 15 0% 17 23.5% 2 50% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ZNF132 7691 genome.wustl.edu 37 19 58946044 58946044 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003433.3 -1 validated p.R256I 0.968 126 0% 184 23.9% 0 - possibly_damaging(0.806) tolerated(0.11) deleterious(0.575) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF132 7691 genome.wustl.edu 37 19 58946102 58946102 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003433.3 -1 validated p.E237K 0.000 110 0% 151 35.1% 0 - benign(0) tolerated(0.72) neutral(0.002) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SLC27A5 10998 genome.wustl.edu 37 19 59011972 59011972 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012254.2 -1 reviewed p.I428 0.931 30 0% 33 18.2% 1 100% - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ZCCHC3 85364 genome.wustl.edu 37 20 278996 278996 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000382352 +1 known p.F257L 1.000 58 0% 46 30.4% 33 33.3% benign(0.02) tolerated(0.08) neutral(0.301) NULL PSMF1 9491 genome.wustl.edu 37 20 1145707 1145707 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006814.3 +1 reviewed p.D267N 1.000 124 0% 115 27.8% 167 20.9% probably_damaging(0.996) deleterious(0.05) deleterious(0.807) NULL FKBP1A 2280 genome.wustl.edu 37 20 1356160 1356160 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000801.3 -1 reviewed p.R58Q 1.000 94 0% 122 23% 248 30.6% possibly_damaging(0.949) deleterious(0.03) deleterious(0.758) HMMPfam_FKBP_C,superfamily_FKBP-like SIRPB2 284759 genome.wustl.edu 37 20 1458042 1458042 + Missense_Mutation SNP G G T rs148097564 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001122962.1 -1 validated p.S267Y 0.007 109 0% 173 32.9% 0 - benign(0.083) tolerated(0.46) neutral(0.018) NULL SIRPB2 284759 genome.wustl.edu 37 20 1460374 1460374 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001122962.1 -1 validated p.S141L 0.000 241 0% 295 27.1% 0 - benign(0) tolerated(0.78) neutral(0.001) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SIRPD 128646 genome.wustl.edu 37 20 1532514 1532514 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178460.2 -1 validated p.N82D 0.001 156 0% 123 27.6% 0 - possibly_damaging(0.642) tolerated(0.06) deleterious(0.547) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 SIRPG 55423 genome.wustl.edu 37 20 1629905 1629905 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018556.3 -1 reviewed p.E75* 0.000 159 0% 150 35.3% 3 0% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin PDYN 5173 genome.wustl.edu 37 20 1963659 1963659 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024411.2 -1 reviewed p.S24 0.154 60 0% 52 11.5% 0 - - - - HMMPfam_Opiods_neuropep,PatternScan_OPIOIDS_PRECURSOR TGM6 343641 genome.wustl.edu 37 20 2411136 2411136 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198994.2 +1 validated p.D575Y 1.000 205 0% 209 29.7% 0 - benign(0) tolerated(0.77) neutral(0.001) HMMPfam_Transglut_C,superfamily_Transglutaminase two C-terminal domains ZNF343 79175 genome.wustl.edu 37 20 2474441 2474441 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024325.4 -1 validated p.Q34R 0.001 103 0% 84 27.4% 1 100% unknown(0) - - NULL TMC2 117532 genome.wustl.edu 37 20 2591073 2591073 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080751.2 +1 validated p.I474 0.932 155 0% 198 30.3% 0 - - - - NULL CPXM1 56265 genome.wustl.edu 37 20 2776015 2776015 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019609.4 -1 reviewed p.V590M 0.996 58 0% 66 30.3% 49 0% probably_damaging(0.99) tolerated(0.13) deleterious(0.694) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases FAM113A 64773 genome.wustl.edu 37 20 2820457 2820457 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022760.3 -1 predicted p.F34 1.000 42 0% 43 14% 9 11.1% - - - NULL FASTKD5 60493 genome.wustl.edu 37 20 3128273 3128273 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021826.4 -1 validated p.L482V 0.997 117 0% 139 20.9% 4 25% benign(0) tolerated(1) - HMMPfam_FAST_1 ITPA 3704 genome.wustl.edu 37 20 3193865 3193865 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033453.2 +1 reviewed p.K39N 0.997 214 0% 223 24.7% 41 48.7% benign(0.017) tolerated(0.45) neutral(0.013) HMMPfam_Ham1p_like,superfamily_SSF52972 C20orf194 25943 genome.wustl.edu 37 20 3329270 3329270 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001009984.1 -1 validated p.D231Y 1.000 185 0% 161 31.1% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL C20orf194 25943 genome.wustl.edu 37 20 3356833 3356833 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001009984.1 -1 validated p.E134K 0.998 50 0% 85 32.9% 0 - probably_damaging(0.954) deleterious(0.01) deleterious(0.803) NULL ATRN 8455 genome.wustl.edu 37 20 3553580 3553580 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139321.2 +1 reviewed p.E692* 1.000 173 0% 176 23.3% 2 0% - - - HMMPfam_PSI,HMMSmart_SM00423 ATRN 8455 genome.wustl.edu 37 20 3584844 3584844 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139321.2 +1 reviewed p.R1246C 1.000 161 0% 152 25% 1 0% probably_damaging(0.995) tolerated(0.05) deleterious(0.803) NULL ATRN 8455 genome.wustl.edu 37 20 3619484 3619484 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_139321.2 +1 reviewed p.R1318* 1.000 71 0% 84 16.7% 0 - - - - NULL SIGLEC1 6614 genome.wustl.edu 37 20 3675550 3675550 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_023068.3 -1 reviewed p.P902S 0.996 10 0% 11 63.6% 2 0% probably_damaging(0.997) tolerated(0.43) deleterious(0.480) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin RASSF2 9770 genome.wustl.edu 37 20 4766954 4766954 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014737.2 -1 reviewed p.F278 0.503 187 0% 146 23.3% 1 0% - - - NULL PROKR2 128674 genome.wustl.edu 37 20 5294688 5294688 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144773.2 -1 reviewed p.E110K 0.998 60 0% 84 29.8% 0 - probably_damaging(0.965) tolerated(0.87) neutral(0.407) HMMPfam_7tm_1,superfamily_SSF81321 GPCPD1 56261 genome.wustl.edu 37 20 5574004 5574004 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019593.3 -1 validated p.R67H 1.000 174 0% 156 17.3% 5 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_CBM_20,superfamily_CBD_4 CHGB 1114 genome.wustl.edu 37 20 5904470 5904470 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001819.2 +1 reviewed p.K560N 0.957 228 0% 233 29.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Granin TMX4 56255 genome.wustl.edu 37 20 7963135 7963135 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021156.2 -1 provisional p.G271 0.061 246 0% 171 25.7% 112 45.5% - - - NULL PLCB4 5332 genome.wustl.edu 37 20 9353009 9353009 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000933.3 +1 reviewed p.K215N 1.000 139 0% 136 34.6% 0 - benign(0.34) tolerated(0.16) neutral(0.167) superfamily_SSF47473 PLCB4 5332 genome.wustl.edu 37 20 9382163 9382163 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000933.3 +1 reviewed p.E513K 0.998 44 0% 48 10.4% 1 0% benign(0.059) tolerated(0.26) neutral(0.038) superfamily_PLC-like_Pdiesterase_TIM-brl PLCB4 5332 genome.wustl.edu 37 20 9402041 9402041 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000933.3 +1 reviewed p.R739Q 1.000 112 0% 100 28% 5 60% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB PAK7 57144 genome.wustl.edu 37 20 9546725 9546725 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020341.3 -1 reviewed p.R433W 0.950 89 0% 102 30.4% 0 - unknown(0) deleterious(0) - superfamily_Kinase_like ANKRD5 63926 genome.wustl.edu 37 20 10025189 10025189 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022096.4 +1 validated p.D232N 1.000 232 0% 218 27.1% 0 - possibly_damaging(0.788) deleterious(0.02) deleterious(0.678) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat SNAP25 6616 genome.wustl.edu 37 20 10273538 10273538 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003081.2 +1 reviewed p.D58N 1.000 286 0% 240 25.8% 0 - benign(0.001) tolerated(0.54) neutral(0.007) HMMSmart_SM00397 SNAP25 6616 genome.wustl.edu 37 20 10273541 10273541 + Missense_Mutation SNP C C T rs146976467 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003081.2 +1 reviewed p.R59C 1.000 290 0% 244 24.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00397 MKKS 8195 genome.wustl.edu 37 20 10386326 10386326 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018848.2 -1 reviewed p.D428N 0.010 77 0% 81 24.7% 10 40% benign(0.001) tolerated(0.12) neutral(0.261) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like C20orf94 128710 genome.wustl.edu 37 20 10601974 10601974 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001009608.1 +1 validated p.L140I 0.908 71 0% 101 31.7% 0 - probably_damaging(0.981) tolerated(0.27) neutral(0.459) NULL JAG1 182 genome.wustl.edu 37 20 10621521 10621521 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000214.2 -1 reviewed p.D1037N 1.000 93 0% 83 20.5% 8 0% probably_damaging(1) tolerated(0.45) deleterious(0.512) NULL ESF1 51575 genome.wustl.edu 37 20 13747512 13747512 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016649.3 -1 provisional p.F526L 1.000 183 0% 197 25.9% 0 - probably_damaging(0.974) tolerated(0.34) neutral(0.439) NULL SEL1L2 80343 genome.wustl.edu 37 20 13830147 13830147 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025229.1 -1 validated p.R684I 0.990 253 0% 163 33.1% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL FLRT3 23767 genome.wustl.edu 37 20 14307633 14307633 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013281.2 -1 reviewed p.P174S 1.000 143 0% 183 33.3% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF52058 MACROD2 140733 genome.wustl.edu 37 20 15913924 15913924 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080676.5 +1 validated p.E260G 1.000 153 0% 158 23.4% 0 - unknown(0) deleterious(0) - NULL KIF16B 55614 genome.wustl.edu 37 20 16348013 16348013 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000408042 -1 known p.K1319N 0.000 402 0% 395 21% 4 25% probably_damaging(0.975) deleterious(0.05) deleterious(0.762) NULL KIF16B 55614 genome.wustl.edu 37 20 16360693 16360693 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024704.3 -1 validated p.R652C 1.000 220 0% 304 30.3% 2 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIF16B 55614 genome.wustl.edu 37 20 16493483 16493483 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024704.3 -1 validated p.R145Q 1.000 103 0% 97 23.7% 1 0% unknown(0) deleterious(0.03) - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases PCSK2 5126 genome.wustl.edu 37 20 17240903 17240903 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002594.2 +1 reviewed p.L66 1.000 204 0% 247 31.2% 0 - - - - superfamily_Protease propeptides/inhibitors BFSP1 631 genome.wustl.edu 37 20 17475108 17475108 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001195.3 -1 reviewed p.I537L 0.000 113 0% 133 24.1% 2 100% benign(0) tolerated(0.18) neutral(0.056) NULL BFSP1 631 genome.wustl.edu 37 20 17479686 17479686 + Splice_Site SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001195.3 -1 reviewed e6-1 1.000 69 0% 70 27.1% 0 - - - - - POLR3F 10621 genome.wustl.edu 37 20 18464194 18464194 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006466.2 +1 reviewed p.E315K 0.985 13 0% 26 34.6% 0 - benign(0.167) deleterious(0.01) neutral(0.421) HMMPfam_RNA_pol_Rpc34 SEC23B 10483 genome.wustl.edu 37 20 18526618 18526618 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006363.4 +1 reviewed p.Y562N 1.000 344 0% 306 25.2% 38 18.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sec23_helical,superfamily_Sec23_helical SLC24A3 57419 genome.wustl.edu 37 20 19566167 19566167 + Silent SNP C C A rs34060393 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020689.3 +1 validated p.V197 1.000 294 0% 253 27.3% 0 - - - - HMMPfam_Na_Ca_ex NAA20 51126 genome.wustl.edu 37 20 20007508 20007508 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016100.3 +1 validated p.R84* 1.000 392 0% 291 31.6% 52 11.5% - - - HMMPfam_Acetyltransf_1,superfamily_Acyl-CoA N-acyltransferases (Nat) C20orf26 26074 genome.wustl.edu 37 20 20066167 20066167 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000377297 +1 known p.R21I 0.020 199 0% 137 16.8% 0 - unknown(0) - - NULL C20orf26 26074 genome.wustl.edu 37 20 20147061 20147061 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015585.3 +1 validated p.F409C 1.000 84 0% 76 22.4% 0 - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL C20orf26 26074 genome.wustl.edu 37 20 20172030 20172030 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015585.3 +1 validated p.Q519H 0.636 216 0% 199 25.1% 0 - probably_damaging(0.968) deleterious(0.03) deleterious(0.774) superfamily_Acyl-CoA N-acyltransferases (Nat) C20orf26 26074 genome.wustl.edu 37 20 20257987 20257987 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015585.3 +1 validated p.G894E 0.016 83 0% 68 26.5% 0 - possibly_damaging(0.807) tolerated(0.12) deleterious(0.565) superfamily_FAD/NAD(P)-binding domain RALGAPA2 57186 genome.wustl.edu 37 20 20505473 20505473 + Splice_Site SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020343.2 -1 validated e29+1 1.000 39 0% 38 15.8% 0 - - - - - XRN2 22803 genome.wustl.edu 37 20 21312958 21312958 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012255.3 +1 reviewed p.P246 0.977 109 0% 103 33% 6 16.6% - - - HMMPfam_XRN_N GZF1 64412 genome.wustl.edu 37 20 23350861 23350861 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022482.3 +1 validated p.S640Y 1.000 179 0% 123 61% 4 50% possibly_damaging(0.775) deleterious(0) deleterious(0.733) NULL CST1 1469 genome.wustl.edu 37 20 23728513 23728513 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001898.2 -1 reviewed p.I122 0.003 43 0% 45 15.6% 114 14.9% - - - HMMPfam_Cystatin,HMMSmart_SM00043,superfamily_Cystatin/monellin SYNDIG1 79953 genome.wustl.edu 37 20 24523780 24523780 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024893.1 +1 provisional p.I16T 0.442 108 0% 62 21% 2 50% benign(0.039) deleterious(0) neutral(0.447) NULL DEFB116 245930 genome.wustl.edu 37 20 29891213 29891213 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037731.1 -1 provisional p.W37C 0.702 612 0% 690 23.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TPX2 22974 genome.wustl.edu 37 20 30359423 30359423 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012112.4 +1 validated p.K182N 0.855 225 0% 228 28.5% 3 33.3% benign(0.001) tolerated(0.53) neutral(0.007) NULL TPX2 22974 genome.wustl.edu 37 20 30380610 30380610 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012112.4 +1 validated p.R496* 0.995 533 0% 504 22% 24 0% - - - NULL MYLK2 85366 genome.wustl.edu 37 20 30409359 30409359 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033118.3 +1 reviewed p.K197N 0.182 21 0% 19 21.1% 0 - benign(0.155) tolerated(0.22) neutral(0.056) NULL TTLL9 164395 genome.wustl.edu 37 20 30525265 30525265 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008409.2 +1 provisional p.K357N 1.000 60 0% 69 31.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TTL TM9SF4 9777 genome.wustl.edu 37 20 30730827 30730827 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014742.3 +1 validated p.R191W 1.000 56 0% 59 37.3% 39 46.1% possibly_damaging(0.847) deleterious(0) deleterious(0.770) HMMPfam_EMP70 KIF3B 9371 genome.wustl.edu 37 20 30898921 30898921 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004798.2 +1 reviewed p.E447D 1.000 74 0% 110 25.5% 5 20% possibly_damaging(0.941) tolerated(0.07) deleterious(0.706) NULL ASXL1 171023 genome.wustl.edu 37 20 31017142 31017142 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015338.5 +1 reviewed p.A158V 1.000 35 0% 38 13.2% 2 50% benign(0.001) deleterious(0.04) neutral(0.349) NULL DNMT3B 1789 genome.wustl.edu 37 20 31383226 31383226 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006892.3 +1 reviewed p.R380* 0.322 95 0% 99 18.2% 2 50% - - - NULL BPIFB2 80341 genome.wustl.edu 37 20 31598867 31598867 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025227.1 +1 reviewed p.L49 0.005 82 0% 90 16.7% 4 0% - - - HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal permeability-increasing protein BPI BPIFB6 128859 genome.wustl.edu 37 20 31622620 31622620 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174897.2 +1 validated p.T118 0.996 74 0% 103 25.2% 1 100% - - - HMMPfam_LBP_BPI_CETP,HMMSmart_BPI1,superfamily_Bactericidal_perm-incr_a/b_dom BPIFB6 128859 genome.wustl.edu 37 20 31630656 31630656 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174897.2 +1 validated p.L408 0.993 55 0% 76 34.2% 0 - - - - HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom BPIFA2 140683 genome.wustl.edu 37 20 31756984 31756984 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080574.2 +1 validated p.C11 0.133 222 0% 231 27.3% 0 - - - - NULL CDK5RAP1 51654 genome.wustl.edu 37 20 31975296 31975296 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016408.2 -1 reviewed p.E196D 1.000 166 0% 205 26.3% 3 0% benign(0.078) tolerated(0.33) neutral(0.029) HMMPfam_UPF0004 EIF2S2 8894 genome.wustl.edu 37 20 32684501 32684501 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003908.3 -1 reviewed p.K215N 1.000 235 0% 277 24.2% 37 16.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_eIF-5_eIF-2B,HMMSmart_SM00653,superfamily_Translation initiation factor 2 beta aIF2beta N-terminal domain ITCH 83737 genome.wustl.edu 37 20 33080315 33080315 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031483.4 +1 reviewed p.E777* 1.000 158 0% 148 25.7% 7 28.5% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain NCOA6 23054 genome.wustl.edu 37 20 33328767 33328767 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014071.2 -1 reviewed p.E1765* 1.000 71 0% 65 20% 21 4.7% - - - NULL NCOA6 23054 genome.wustl.edu 37 20 33330855 33330855 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014071.2 -1 reviewed p.P1069S 1.000 138 0% 165 22.4% 15 26.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ACSS2 55902 genome.wustl.edu 37 20 33503039 33503039 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000253382 +1 known p.S285A 0.998 143 0% 173 26.6% 0 - benign(0.002) tolerated(0.78) neutral(0.001) HMMPfam_AMP-binding,superfamily_SSF56801 MYH7B 57644 genome.wustl.edu 37 20 33582024 33582024 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020884.3 +1 reviewed p.F882L 1.000 44 0% 22 45.5% 0 - probably_damaging(0.984) tolerated(0.13) deleterious(0.683) superfamily_P-loop containing nucleoside triphosphate hydrolases MMP24 10893 genome.wustl.edu 37 20 33834651 33834651 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006690.3 +1 reviewed p.L85 0.998 84 0% 131 30.5% 3 100% - - - HMMPfam_PG_binding_1,superfamily_PGBD-like RBM12 10137 genome.wustl.edu 37 20 34242979 34242979 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006047.4 -1 reviewed p.R89H 1.000 234 0% 235 30.2% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL RBM39 9584 genome.wustl.edu 37 20 34292638 34292638 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_184234.1 -1 reviewed p.A482S 1.000 314 0% 190 31.6% 150 39.3% benign(0.348) tolerated(0.35) neutral(0.131) HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD PHF20 51230 genome.wustl.edu 37 20 34526689 34526689 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016436.4 +1 validated p.H791N 0.998 178 0% 171 21.1% 3 33.3% benign(0.006) tolerated(0.59) neutral(0.004) NULL SAMHD1 25939 genome.wustl.edu 37 20 35575150 35575150 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015474.3 -1 reviewed p.L89P 0.989 31 0% 39 30.8% 2 0% possibly_damaging(0.918) deleterious(0.01) deleterious(0.774) HMMSmart_SAM,superfamily_SAM_homology,HMMPfam_SAM_2 RBL1 5933 genome.wustl.edu 37 20 35646736 35646736 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002895.2 -1 reviewed p.E890* 0.998 89 0% 105 23.8% 0 - - - - HMMPfam_RB_B,HMMSmart_SM00385,superfamily_Cyclin-like C20orf132 140699 genome.wustl.edu 37 20 35748238 35748238 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000400441 -1 known p.L745I 0.997 284 0% 382 20.4% 2 50% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) superfamily_ARM repeat TTI1 9675 genome.wustl.edu 37 20 36641241 36641241 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014657.1 -1 predicted p.V326 0.101 174 0% 162 24.7% 3 33.3% - - - superfamily_ARM-type_fold BPI 671 genome.wustl.edu 37 20 36938938 36938938 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001725.2 +1 reviewed p.I144 0.004 56 0% 70 15.7% 0 - - - - HMMPfam_LBP_BPI_CETP,HMMSmart_BPI1,superfamily_Bactericidal_perm-incr_a/b_dom BPI 671 genome.wustl.edu 37 20 36953197 36953197 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001725.2 +1 reviewed p.R323* 0.009 63 0% 87 23% 0 - - - - HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom SLC32A1 140679 genome.wustl.edu 37 20 37356950 37356950 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080552.2 +1 reviewed p.A416T 1.000 24 0% 26 19.2% 0 - benign(0) tolerated(1) - HMMPfam_Aa_trans FAM83D 81610 genome.wustl.edu 37 20 37580707 37580707 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_030919.2 +1 validated p.T464 0.000 75 0% 74 39.2% 35 48.5% - - - NULL DHX35 60625 genome.wustl.edu 37 20 37662910 37662910 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021931.2 +1 reviewed p.E673* 1.000 161 0% 146 16.4% 3 0% - - - HMMPfam_DUF1605 TOP1 7150 genome.wustl.edu 37 20 39725963 39725963 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003286.2 +1 reviewed p.F278L 1.000 200 0% 186 26.9% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Topoisom_I_N,superfamily_Eukaryotic DNA topoisomerase I N-terminal DNA-binding fragment ZHX3 23051 genome.wustl.edu 37 20 39813832 39813832 + Nonstop_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015035.3 -1 reviewed p.*957L 1.000 19 0% 22 18.2% 9 22.2% - - - NULL CHD6 84181 genome.wustl.edu 37 20 40049283 40049283 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032221.3 -1 reviewed p.E1998* 0.993 223 0% 174 29.9% 2 0% - - - NULL CHD6 84181 genome.wustl.edu 37 20 40052238 40052238 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032221.3 -1 reviewed p.I1483 0.898 395 0% 388 22.9% 1 0% - - - NULL CHD6 84181 genome.wustl.edu 37 20 40126068 40126068 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032221.3 -1 reviewed p.R350* 1.000 210 0% 147 30.6% 2 50% - - - HMMPfam_Chromo,HMMSmart_SM00298,superfamily_Chromo domain-like SRSF6 6431 genome.wustl.edu 37 20 42088724 42088724 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006275.5 +1 reviewed p.R145* 1.000 131 0% 132 23.5% 55 5.4% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD L3MBTL1 26013 genome.wustl.edu 37 20 42143992 42143992 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015478.5 +1 reviewed p.M148I 1.000 13 0% 24 25% 0 - benign(0.013) tolerated(0.18) neutral(0.057) NULL SERINC3 10955 genome.wustl.edu 37 20 43132565 43132565 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006811.2 -1 validated p.S316A 0.141 137 0% 119 18.5% 31 19.3% benign(0.001) tolerated(0.66) neutral(0.003) HMMPfam_Serinc YWHAB 7529 genome.wustl.edu 37 20 43533619 43533619 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003404.3 +1 reviewed p.S145 0.962 243 0% 223 26.9% 53 45.2% - - - HMMPfam_14-3-3,HMMSmart_SM00101,superfamily_14-3-3 protein PI3 5266 genome.wustl.edu 37 20 43804728 43804728 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002638.3 +1 reviewed p.K102N 0.903 170 0% 130 26.9% 51 49% probably_damaging(0.985) deleterious(0.01) deleterious(0.838) HMMPfam_WAP,HMMSmart_SM00217,superfamily_Elafin-like,PatternScan_4_DISULFIDE_CORE SEMG2 6407 genome.wustl.edu 37 20 43850916 43850916 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003008.2 +1 reviewed p.Q215* 0.000 344 0% 255 38.8% 0 - - - - HMMPfam_Semenogelin SEMG2 6407 genome.wustl.edu 37 20 43851268 43851268 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003008.2 +1 reviewed p.I332T 0.000 346 0.3% 232 24.1% 0 - probably_damaging(0.982) tolerated(1) neutral(0.426) HMMPfam_Semenogelin RBPJL 11317 genome.wustl.edu 37 20 43940245 43940245 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014276.2 +1 reviewed p.P92S 1.000 41 0% 56 12.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P53_like_DNA_bnd,HMMPfam_LAG1-DNAbind WFDC9 259240 genome.wustl.edu 37 20 44236749 44236749 + Nonstop_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_147198.2 -1 reviewed p.*90Y 0.000 472 0% 508 22.2% 0 - - - - NULL WFDC10A 140832 genome.wustl.edu 37 20 44259509 44259509 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080753.2 +1 reviewed p.K31R 0.014 117 0% 140 26.4% 0 - possibly_damaging(0.666) tolerated(0.61) neutral(0.240) NULL ACOT8 10005 genome.wustl.edu 37 20 44483804 44483804 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005469.2 -1 reviewed p.R86W 0.705 21 0% 29 44.8% 43 44.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Acyl_CoA_thio,superfamily_SSF54637 ZSWIM3 140831 genome.wustl.edu 37 20 44505602 44505602 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080752.2 +1 validated p.K135N 0.000 133 0% 127 26.8% 1 0% benign(0) tolerated(0.16) neutral(0.059) NULL CTSA 5476 genome.wustl.edu 37 20 44522691 44522691 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000308.2 +1 reviewed p.D271Y 0.995 85 0% 69 21.7% 140 37.1% benign(0.419) deleterious(0.02) deleterious(0.519) HMMPfam_Peptidase_S10,superfamily_alpha/beta-Hydrolases ZNF334 55713 genome.wustl.edu 37 20 45129981 45129981 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018102.3 -1 validated p.R666H 0.210 169 0% 179 27.9% 0 - benign(0.064) tolerated(0.54) neutral(0.011) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZMYND8 23613 genome.wustl.edu 37 20 45855964 45855964 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_183047.1 -1 reviewed p.E954K 1.000 261 0% 240 25% 5 60% probably_damaging(0.997) tolerated(0.15) deleterious(0.707) NULL PREX1 57580 genome.wustl.edu 37 20 47258745 47258745 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020820.3 -1 reviewed p.E1246K 1.000 58 0% 53 20.8% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CSE1L 1434 genome.wustl.edu 37 20 47700588 47700588 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001316.2 +1 reviewed p.S503L 1.000 124 0% 87 26.4% 8 12.5% benign(0.003) tolerated(0.14) neutral(0.249) HMMPfam_Cse1,superfamily_ARM repeat STAU1 6780 genome.wustl.edu 37 20 47733749 47733749 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017453.2 -1 reviewed p.E516K 1.000 224 0% 165 27.9% 32 18.7% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_dsRNA-binding domain-like ZNFX1 57169 genome.wustl.edu 37 20 47866228 47866228 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021035.2 -1 validated p.F1111L 1.000 121 0% 107 30.8% 1 0% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) superfamily_P-loop containing nucleoside triphosphate hydrolases PTGIS 5740 genome.wustl.edu 37 20 48130929 48130929 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000961.3 -1 reviewed p.N287D 0.965 74 0% 85 38.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cytochrome_P450 UBE2V1 7335 genome.wustl.edu 37 20 48713259 48713259 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021988.4 -1 reviewed p.E64K 1.000 280 0% 263 25.9% 55 7.2% possibly_damaging(0.476) deleterious(0.01) deleterious(0.562) HMMPfam_UQ_con,HMMSmart_UBCc,superfamily_UBQ-conjugat/RWD-like PARD6B 84612 genome.wustl.edu 37 20 49366302 49366302 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032521.2 +1 reviewed p.V132 0.998 128 0% 136 19.9% 0 - - - - superfamily_PDZ ADNP 23394 genome.wustl.edu 37 20 49509386 49509386 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015339.2 -1 reviewed p.T622I 1.000 278 0% 243 30.5% 6 16.6% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMSmart_ZnF_C2H2 NFATC2 4773 genome.wustl.edu 37 20 50140112 50140112 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173091.2 -1 reviewed p.R223Q 1.000 26 0% 60 18.3% 0 - possibly_damaging(0.439) deleterious(0.01) deleterious(0.548) NULL TSHZ2 128553 genome.wustl.edu 37 20 51870955 51870955 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173485.4 +1 validated p.A320T 1.000 279 0% 171 38% 0 - probably_damaging(0.998) tolerated(1) deleterious(0.474) NULL BCAS1 8537 genome.wustl.edu 37 20 52644978 52644978 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003657.2 -1 reviewed p.E226* 0.000 520 0% 437 24.3% 0 - - - - NULL DOK5 55816 genome.wustl.edu 37 20 53208205 53208205 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018431.3 +1 reviewed p.E154K 1.000 146 0% 125 34.4% 0 - benign(0.07) tolerated(0.08) neutral(0.305) HMMPfam_IRS,HMMSmart_SM00310,superfamily_PH domain-like DOK5 55816 genome.wustl.edu 37 20 53266981 53266981 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018431.3 +1 reviewed p.R295Q 0.996 75 0% 89 21.3% 0 - possibly_damaging(0.856) deleterious(0) deleterious(0.775) NULL MC3R 4159 genome.wustl.edu 37 20 54824013 54824013 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019888.3 +1 reviewed p.V38 0.999 269 0% 303 23.8% 0 - - - - superfamily_Family A G protein-coupled receptor-like CSTF1 1477 genome.wustl.edu 37 20 54972347 54972347 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001033521.1 +1 reviewed p.F85C 1.000 152 0% 185 29.7% 7 28.5% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) NULL CASS4 57091 genome.wustl.edu 37 20 55033400 55033400 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020356.3 +1 validated p.P653H 0.001 82 0% 69 34.8% 1 0% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL SPO11 23626 genome.wustl.edu 37 20 55918466 55918466 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012444.2 +1 reviewed p.L381I 1.000 85 0% 94 40.4% 0 - possibly_damaging(0.935) deleterious(0.02) deleterious(0.764) superfamily_DNA topoisomerase IV alpha subunit SPO11 23626 genome.wustl.edu 37 20 55918494 55918494 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012444.2 +1 reviewed p.L390S 1.000 89 0% 98 25.5% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_DNA topoisomerase IV alpha subunit GNAS 2778 genome.wustl.edu 37 20 57430063 57430063 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001077490.1 +1 reviewed p.P519L 0.767 6 0.000 6 0.667 0 - probably_damaging(0.976) tolerated(0.21) neutral(0.462) NULL ZNF831 128611 genome.wustl.edu 37 20 57766126 57766126 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178457.1 +1 provisional p.A18T 0.536 16 0% 15 26.7% 0 - probably_damaging(0.987) deleterious(0.02) deleterious(0.820) NULL ZNF831 128611 genome.wustl.edu 37 20 57829142 57829142 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_178457.1 +1 provisional p.D1460Y 0.000 179 0% 164 23.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL EDN3 1908 genome.wustl.edu 37 20 57899380 57899380 + Splice_Site SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207033.1 +1 reviewed e4-2 0.023 207 0% 219 25.1% 0 - - - - - SYCP2 10388 genome.wustl.edu 37 20 58455405 58455405 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014258.2 -1 reviewed p.D965A 0.978 58 0% 55 10.9% 0 - possibly_damaging(0.757) tolerated(0.07) deleterious(0.599) NULL SYCP2 10388 genome.wustl.edu 37 20 58476810 58476810 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014258.2 -1 reviewed p.S363R 0.993 170 0% 131 33.6% 0 - probably_damaging(0.992) tolerated(0.07) deleterious(0.766) NULL SYCP2 10388 genome.wustl.edu 37 20 58486885 58486885 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014258.2 -1 reviewed p.D298N 1.000 67 0% 42 14.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SYCP2 10388 genome.wustl.edu 37 20 58494615 58494615 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014258.2 -1 reviewed p.Q112P 0.009 102 0% 92 23.9% 0 - benign(0.121) tolerated(0.24) neutral(0.047) NULL C20orf197 284756 genome.wustl.edu 37 20 58645817 58645817 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173644.1 +1 predicted p.Q79* 0.003 118 0% 111 32.4% 0 - - - - NULL TAF4 6874 genome.wustl.edu 37 20 60585192 60585192 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003185.3 -1 reviewed p.Q557 1.000 19 0% 24 33.3% 16 62.5% - - - NULL LSM14B 149986 genome.wustl.edu 37 20 60705677 60705677 + Silent SNP C C T rs144046063 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144703.2 +1 validated p.F255 1.000 21 0% 21 23.8% 23 34.7% - - - HMMPfam_DFDF COL9A3 1299 genome.wustl.edu 37 20 61468453 61468453 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001853.3 +1 reviewed p.A541V 1.000 93 0% 143 29.4% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL DIDO1 11083 genome.wustl.edu 37 20 61527623 61527623 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033081.1 -1 reviewed p.R726C 1.000 103 0% 115 27% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMSmart_SM00510 DIDO1 11083 genome.wustl.edu 37 20 61541305 61541305 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033081.1 -1 reviewed p.R303* 0.999 95 0% 107 30.8% 6 0% - - - HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD PTK6 5753 genome.wustl.edu 37 20 62162252 62162252 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005975.2 -1 reviewed p.S287 0.002 7 0.000 15 0.267 12 58.3% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like MYT1 4661 genome.wustl.edu 37 20 62871696 62871696 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004535.2 +1 reviewed p.F1087 0.941 15 0% 20 25% 0 - - - - NULL LIPI 149998 genome.wustl.edu 37 21 15524966 15524966 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198996.2 -1 validated p.T370N 0.017 86 0% 78 24.4% 0 - benign(0.033) tolerated(0.63) neutral(0.005) NULL LIPI 149998 genome.wustl.edu 37 21 15554119 15554119 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000400211 -1 known p.G81* 0.875 81 0% 89 31.5% 0 - - - - HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases RBM11 54033 genome.wustl.edu 37 21 15599387 15599387 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144770.3 +1 validated p.P207T 0.552 544 0% 383 22.2% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL USP25 29761 genome.wustl.edu 37 21 17183474 17183474 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013396.3 +1 validated p.K292N 1.000 645 0% 669 29.9% 1 100% benign(0.188) tolerated(0.18) neutral(0.074) HMMPfam_UCH,superfamily_Cysteine proteinases CHODL 140578 genome.wustl.edu 37 21 19628872 19628872 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024944.2 +1 reviewed p.M42I 0.998 58 0% 48 18.8% 0 - benign(0) tolerated(0.97) - HMMSmart_SM00034,superfamily_C-type lectin-like NCAM2 4685 genome.wustl.edu 37 21 22696762 22696762 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004540.2 +1 reviewed p.E227* 1.000 197 0% 195 22.1% 0 - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 NCAM2 4685 genome.wustl.edu 37 21 22746330 22746330 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004540.2 +1 reviewed p.E398* 1.000 266 0% 244 24.2% 0 - - - - superfamily_SSF48726 NCAM2 4685 genome.wustl.edu 37 21 22804429 22804429 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004540.2 +1 reviewed p.D494 1.000 145 0% 116 19.8% 0 - - - - superfamily_FN_III-like,superfamily_SSF48726 NCAM2 4685 genome.wustl.edu 37 21 22881266 22881266 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004540.2 +1 reviewed p.F724L 1.000 151 0% 180 36.1% 0 - probably_damaging(0.974) deleterious(0.04) deleterious(0.765) NULL GABPA 2551 genome.wustl.edu 37 21 27141437 27141437 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002040.3 +1 validated p.E420A 1.000 116 0% 166 30.1% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) "superfamily_""Winged helix"" DNA-binding domain" APP 351 genome.wustl.edu 37 21 27284249 27284249 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000484.3 -1 reviewed p.N571K 1.000 67 0% 64 34.4% 728 47.2% benign(0.004) tolerated(0.93) - NULL APP 351 genome.wustl.edu 37 21 27423361 27423361 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000484.3 -1 reviewed p.S206L 1.000 202 0% 170 22.4% 1010 41.2% possibly_damaging(0.516) tolerated(0.09) deleterious(0.470) NULL ADAMTS1 9510 genome.wustl.edu 37 21 28210587 28210587 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006988.3 -1 reviewed p.H739N 1.000 72 0% 86 14% 6 0% benign(0) tolerated(1) - HMMPfam_ADAM_spacer1 ADAMTS5 11096 genome.wustl.edu 37 21 28327180 28327180 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007038.3 -1 reviewed p.G372E 1.000 132 0% 130 31.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" LTN1 26046 genome.wustl.edu 37 21 30303645 30303645 + Splice_Site SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015565.2 -1 validated e29-1 1.000 273 0% 179 26.3% 0 - - - - - USP16 10600 genome.wustl.edu 37 21 30419372 30419372 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001032410.1 +1 reviewed p.L581V 0.371 254 0% 199 19.1% 3 66.6% possibly_damaging(0.529) deleterious(0.01) deleterious(0.584) HMMPfam_UCH,superfamily_Cysteine proteinases USP16 10600 genome.wustl.edu 37 21 30421130 30421130 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001032410.1 +1 reviewed p.S687Y 1.000 176 0% 162 23.5% 9 55.5% possibly_damaging(0.832) tolerated(0.11) deleterious(0.589) HMMPfam_UCH,superfamily_Cysteine proteinases CCT8 10694 genome.wustl.edu 37 21 30434477 30434477 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006585.2 -1 validated p.G395D 1.000 289 0% 180 30% 178 42.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL-intermediate domain like GRIK1 2897 genome.wustl.edu 37 21 30959775 30959775 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000830.3 -1 reviewed p.F568L 1.000 113 0% 144 27.1% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II CLDN17 26285 genome.wustl.edu 37 21 31538540 31538540 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012131.2 -1 reviewed p.F132 0.061 312 0% 218 28% 0 - - - - HMMPfam_PMP22_Claudin KRTAP26-1 388818 genome.wustl.edu 37 21 31691901 31691901 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203405.1 -1 validated p.K151N 0.000 268 0% 305 31.1% 0 - benign(0) tolerated(0.75) neutral(0.002) HMMPfam_PMG KRTAP19-4 337971 genome.wustl.edu 37 21 31869386 31869386 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181610.1 -1 provisional p.C15G 0.809 220 0% 252 18.3% 0 - unknown(0) - - NULL KRTAP6-2 337967 genome.wustl.edu 37 21 31971153 31971153 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181604.1 -1 validated p.G14D 0.995 144 0% 177 24.9% 0 - unknown(0) - - NULL KRTAP11-1 337880 genome.wustl.edu 37 21 32253561 32253561 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175858.2 -1 validated p.P95S 0.850 167 0.6% 123 26% 0 - probably_damaging(0.999) tolerated(0.41) deleterious(0.505) HMMPfam_PMG TIAM1 7074 genome.wustl.edu 37 21 32624090 32624090 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003253.2 -1 validated p.R460M 1.000 126 0% 78 25.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 TIAM1 7074 genome.wustl.edu 37 21 32638790 32638790 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003253.2 -1 validated p.K167E 1.000 117 0% 141 23.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SYNJ1 8867 genome.wustl.edu 37 21 34004078 34004078 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003895.3 -1 validated p.E1317* 0.077 126 0% 101 31.7% 0 - - - - NULL SYNJ1 8867 genome.wustl.edu 37 21 34029206 34029206 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003895.3 -1 validated p.V862 0.054 131 0% 123 34.1% 0 - - - - HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like SYNJ1 8867 genome.wustl.edu 37 21 34038272 34038272 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003895.3 -1 validated p.R709Q 1.000 122 0% 133 24.8% 0 - probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like SYNJ1 8867 genome.wustl.edu 37 21 34038343 34038343 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003895.3 -1 validated p.F685 0.230 97 0% 107 28% 0 - - - - HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like GCFC1 94104 genome.wustl.edu 37 21 34123506 34123506 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016631.3 -1 reviewed p.L511I 1.000 199 0% 176 28.4% 13 69.2% benign(0.051) tolerated(0.09) neutral(0.299) HMMPfam_GCFC C21orf62 56245 genome.wustl.edu 37 21 34166166 34166166 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000479548 -1 known p.V189 0.000 194 0% 152 19.1% 0 - - - - NULL IFNAR2 3455 genome.wustl.edu 37 21 34625003 34625003 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207585.1 +1 reviewed p.F193V 0.377 100 0% 149 22.1% 16 37.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Fibronectin type III,HMMPfam_Interfer-bind ENSG00000249624 0 genome.wustl.edu 37 21 34652145 34652145 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000433395 +1 known p.T268M 0.006 175 0% 144 29.9% 8 25% - - - superfamily_Fibronectin type III IFNAR1 3454 genome.wustl.edu 37 21 34727700 34727700 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000629.2 +1 reviewed p.N507H 0.408 167 0% 124 24.2% 3 66.6% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL TMEM50B 757 genome.wustl.edu 37 21 34841168 34841168 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006134.5 -1 validated p.R9C 1.000 181 0.6% 156 30.1% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_UPF0220 SON 6651 genome.wustl.edu 37 21 34924564 34924564 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138927.1 +1 reviewed p.M1009I 1.000 190 0% 161 33.5% 4 25% possibly_damaging(0.891) deleterious(0) deleterious(0.795) NULL SON 6651 genome.wustl.edu 37 21 34931535 34931535 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138927.1 +1 reviewed e5-1 1.000 143 0% 141 25.5% 0 - - - - - CRYZL1 9946 genome.wustl.edu 37 21 34969701 34969701 + Nonsense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145858.2 -1 reviewed p.L228* 0.996 120 0% 133 34.6% 3 0% - - - superfamily_NAD(P)-binding Rossmann-fold domains ITSN1 6453 genome.wustl.edu 37 21 35147378 35147378 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003024.2 +1 reviewed p.I521T 1.000 232 0% 205 22.4% 2 100% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL ITSN1 6453 genome.wustl.edu 37 21 35154399 35154399 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003024.2 +1 reviewed p.K596Q 1.000 231 0% 154 31.2% 2 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ITSN1 6453 genome.wustl.edu 37 21 35169771 35169771 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003024.2 +1 reviewed p.K681Q 0.009 119 0% 126 15.1% 2 0% benign(0.005) tolerated(0.21) neutral(0.044) NULL RCAN1 1827 genome.wustl.edu 37 21 35895910 35895910 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004414.5 -1 reviewed p.F117L 0.139 116 0% 130 24.6% 11 45.4% benign(0) tolerated(0.42) neutral(0.014) HMMPfam_Calcipressin SETD4 54093 genome.wustl.edu 37 21 37417977 37417977 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017438.3 -1 validated p.Y210C 1.000 101 0% 73 23.3% 12 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SET,superfamily_SET domain DOPEY2 9980 genome.wustl.edu 37 21 37571423 37571423 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005128.2 +1 validated p.K65R 1.000 104 0% 120 20.8% 1 100% probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMPfam_Dopey_N DOPEY2 9980 genome.wustl.edu 37 21 37653796 37653796 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005128.2 +1 validated p.S2016Y 1.000 123 0% 140 27.9% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DOPEY2 9980 genome.wustl.edu 37 21 37661367 37661367 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005128.2 +1 validated p.T2126 0.000 171 0% 116 24.1% 15 46.6% - - - NULL DSCR6 53820 genome.wustl.edu 37 21 38390253 38390253 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018962.2 +1 validated p.A107T 1.000 62 0% 79 40.5% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PIGP 51227 genome.wustl.edu 37 21 38439669 38439669 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153681.2 -1 reviewed p.V80D 0.931 364 0% 398 31.7% 27 22.2% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_PIG-P TTC3 7267 genome.wustl.edu 37 21 38495286 38495286 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001894.1 +1 validated p.R356Q 0.952 339 0% 195 26.7% 0 - benign(0.003) tolerated(0.22) neutral(0.042) superfamily_Spectrin,superfamily_SSF48452 TTC3 7267 genome.wustl.edu 37 21 38505030 38505030 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001894.1 +1 validated p.E469D 0.997 103 0% 68 20.6% 1 100% probably_damaging(0.987) deleterious(0) deleterious(0.881) superfamily_Spectrin,superfamily_SSF48452 TTC3 7267 genome.wustl.edu 37 21 38525300 38525300 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000414818 +1 known p.Y185C 0.981 139 0% 104 25% 1 0% - - - NULL KCNJ6 3763 genome.wustl.edu 37 21 39087397 39087397 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002240.2 -1 reviewed p.V21 0.026 59 0% 34 38.2% 0 - - - - NULL DSCR4 10281 genome.wustl.edu 37 21 39492494 39492494 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000398948 -1 known p.K46T 0.122 112 0% 124 29.8% 0 - possibly_damaging(0.615) - - NULL ERG 2078 genome.wustl.edu 37 21 39775573 39775573 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001136154.1 -1 validated p.E156D 0.982 101 0% 72 30.6% 5 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain BRWD1 54014 genome.wustl.edu 37 21 40559167 40559167 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018963.3 -1 reviewed p.E2250* 0.987 218 0% 186 33.3% 1 100% - - - superfamily_WD40 repeat-like SH3BGR 6450 genome.wustl.edu 37 21 40834318 40834318 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007341.2 +1 validated p.Q84H 1.000 196 0% 117 29.9% 2 100% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_SH3BGR,superfamily_Thiordxn-like_fd IGSF5 150084 genome.wustl.edu 37 21 41137739 41137739 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080444.1 +1 provisional p.Q126H 1.000 83 0% 85 18.8% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 BACE2 25825 genome.wustl.edu 37 21 42647524 42647524 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012105.3 +1 reviewed p.S510 1.000 60 0% 62 12.9% 546 23.4% - - - NULL MX2 4600 genome.wustl.edu 37 21 42771165 42771165 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002463.1 +1 reviewed p.G439* 0.996 148 0% 148 31.1% 2 0% - - - HMMPfam_Dynamin_M MX2 4600 genome.wustl.edu 37 21 42775240 42775240 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002463.1 +1 reviewed p.G540 0.000 71 0% 69 31.9% 3 100% - - - HMMPfam_Dynamin_M TMPRSS2 7113 genome.wustl.edu 37 21 42840454 42840454 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005656.3 -1 reviewed p.E395* 0.012 30 0% 62 14.5% 5 0% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases RRP1B 23076 genome.wustl.edu 37 21 45096691 45096691 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015056.2 +1 validated p.T231M 0.000 123 0% 174 29.9% 0 - possibly_damaging(0.782) tolerated(0.16) neutral(0.352) NULL TRPM2 7226 genome.wustl.edu 37 21 45774585 45774585 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003307.3 +1 reviewed p.Y74H 0.375 112 0% 91 24.2% 0 - probably_damaging(0.978) tolerated(0.42) neutral(0.434) NULL TRPM2 7226 genome.wustl.edu 37 21 45810816 45810816 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003307.3 +1 reviewed p.E450K 0.999 45 0% 96 38.5% 1 0% benign(0.202) tolerated(0.13) neutral(0.272) NULL TSPEAR 54084 genome.wustl.edu 37 21 45941979 45941979 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144991.2 -1 provisional p.I451 0.279 14 0% 19 31.6% 0 - - - - HMMPfam_EPTP TSPEAR 54084 genome.wustl.edu 37 21 45947247 45947247 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144991.2 -1 provisional p.E359D 0.050 46 0% 69 24.6% 0 - benign(0.018) tolerated(0.43) neutral(0.014) HMMPfam_EPTP KRTAP10-5 386680 genome.wustl.edu 37 21 46000061 46000061 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198694.2 -1 reviewed p.V132A 0.000 474 0% 593 28.7% 0 - unknown(0) tolerated(0.69) - NULL POFUT2 23275 genome.wustl.edu 37 21 46689877 46689877 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_133635.4 -1 validated p.D297Y 1.000 56 0% 70 17.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_O-FucT LOC100288508 100288508 genome.wustl.edu 37 21 47545922 47545922 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343757.1 -1 model p.R283S 0.026 24 0% 24 29.2% 451 0% - - - NULL MCM3AP 8888 genome.wustl.edu 37 21 47703598 47703598 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003906.3 -1 reviewed p.K458N 0.250 81 0% 88 28.4% 2 50% probably_damaging(0.969) deleterious(0.03) deleterious(0.776) superfamily_SSF54928 MCM3AP 8888 genome.wustl.edu 37 21 47705052 47705052 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003906.3 -1 reviewed p.S50L 0.001 81 0% 87 24.1% 1 100% benign(0) tolerated(0.31) neutral(0.027) NULL S100B 6285 genome.wustl.edu 37 21 48022292 48022292 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006272.2 -1 reviewed p.D13N 0.564 75 0% 53 32.1% 3 0% benign(0.053) tolerated(0.5) neutral(0.013) HMMPfam_S_100,superfamily_EF-hand OR11H1 81061 genome.wustl.edu 37 22 16449528 16449528 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005239.1 -1 provisional p.V93F 0.251 778 0.1% 944 7.6% 0 - benign(0.089) deleterious(0) neutral(0.451) HMMPfam_7tm_1,superfamily_SSF81321 OR11H1 81061 genome.wustl.edu 37 22 16449556 16449556 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005239.1 -1 provisional p.F83L 0.981 774 0% 921 11.5% 0 - possibly_damaging(0.575) tolerated(0.09) deleterious(0.493) HMMPfam_7tm_1,superfamily_SSF81321 XKR3 150165 genome.wustl.edu 37 22 17264843 17264843 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_175878.3 -1 validated p.S349N 0.463 116 0% 125 39.2% 0 - possibly_damaging(0.873) tolerated(0.17) neutral(0.398) HMMPfam_XK-related CECR2 27443 genome.wustl.edu 37 22 18020202 18020202 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000400573 +1 known p.R511* 0.010 43 0% 58 43.1% 0 - - - - NULL CECR2 27443 genome.wustl.edu 37 22 18029148 18029148 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000400573 +1 known p.R1369C 0.997 35 0% 47 34% 0 - benign(0.064) tolerated(0.68) neutral(0.006) NULL USP18 11274 genome.wustl.edu 37 22 18640527 18640527 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017414.3 +1 validated p.D33Y 0.000 166 0% 137 21.2% 12 8.3% possibly_damaging(0.819) deleterious(0.01) deleterious(0.715) NULL TSSK2 23617 genome.wustl.edu 37 22 19119078 19119078 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_053006.4 +1 validated p.F56V 1.000 67 0% 90 17.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CLTCL1 8218 genome.wustl.edu 37 22 19209536 19209536 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007098.3 -1 reviewed p.I833 1.000 153 0% 163 33.7% 0 - - - - HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_ARM repeat UFD1L 7353 genome.wustl.edu 37 22 19455394 19455394 + Splice_Site SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005659.6 -1 reviewed e5+2 1.000 72 0% 68 35.3% 0 - - - - - CDC45 8318 genome.wustl.edu 37 22 19467737 19467737 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003504.3 +1 reviewed p.L36 0.914 24 0% 23 34.8% 4 25% - - - HMMPfam_CDC45 CDC45 8318 genome.wustl.edu 37 22 19506379 19506379 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003504.3 +1 reviewed p.K550R 1.000 66 0% 62 24.2% 20 20% benign(0.006) tolerated(0.66) neutral(0.003) HMMPfam_CDC45 TBX1 6899 genome.wustl.edu 37 22 19752592 19752592 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080647.1 +1 reviewed p.E266K 1.000 54 0% 56 35.7% 0 - possibly_damaging(0.553) tolerated(0.11) neutral(0.460) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd DGCR8 54487 genome.wustl.edu 37 22 20078962 20078962 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022720.5 +1 validated p.L437 0.943 177 0% 258 32.9% 0 - - - - NULL USP41 373856 genome.wustl.edu 37 22 20721022 20721022 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000292729 -1 known p.S190Y 0.740 213 0% 239 23% 10 0% - - - HMMPfam_UCH,superfamily_Cysteine proteinases AIFM3 150209 genome.wustl.edu 37 22 21332216 21332216 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144704.2 +1 validated p.D467N 0.993 32 0% 72 22.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain THAP7 80764 genome.wustl.edu 37 22 21355015 21355015 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008695.1 -1 validated p.R100C 0.946 93 0% 60 35% 48 31.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC116 164592 genome.wustl.edu 37 22 21989177 21989177 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152612.2 +1 provisional p.E275D 0.069 71 0% 78 20.5% 0 - probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL MAPK1 5594 genome.wustl.edu 37 22 22123543 22123543 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002745.4 -1 reviewed p.E345* 1.000 109 0% 91 28.6% 3 33.3% - - - superfamily_Protein kinase-like (PK-like) TOP3B 8940 genome.wustl.edu 37 22 22312958 22312958 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000457270 -1 known p.S466L 0.731 33 0% 18 38.9% 18 44.4% - - - NULL IGLV1-47 28822 genome.wustl.edu 37 22 22712481 22712481 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000390294 +1 known p.P75L 0.032 341 0% 363 17.9% 55 0% benign(0.02) tolerated(0.06) neutral(0.324) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLV3-16 28799 genome.wustl.edu 37 22 23090191 23090191 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000390311 +1 known p.E44* 0.029 184 0% 182 25.8% 0 - - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin GNAZ 2781 genome.wustl.edu 37 22 23465441 23465441 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002073.2 +1 reviewed p.Y297* 1.000 20 0% 25 28% 0 - - - - HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases PIWIL3 440822 genome.wustl.edu 37 22 25147450 25147450 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008496.2 -1 validated p.T331 0.993 554 0% 499 21.2% 0 - - - - HMMPfam_PAZ,superfamily_SSF101690 PIWIL3 440822 genome.wustl.edu 37 22 25150035 25150035 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008496.2 -1 validated p.G308E 0.000 214 0% 182 23.6% 0 - benign(0.078) tolerated(1) neutral(0.005) HMMPfam_PAZ,superfamily_SSF101690 SGSM1 129049 genome.wustl.edu 37 22 25246249 25246249 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039948.2 +1 validated p.R102I 1.000 51 0% 41 22% 0 - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_RUN SGSM1 129049 genome.wustl.edu 37 22 25251323 25251323 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039948.2 +1 validated p.E199K 0.999 26 0% 48 27.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SGSM1 129049 genome.wustl.edu 37 22 25313718 25313718 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039948.2 +1 validated p.R1063* 1.000 54 0% 34 23.5% 1 0% - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p TMEM211 255349 genome.wustl.edu 37 22 25331458 25331458 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001001663.1 -1 provisional p.R78W 0.987 159 0% 276 34.1% 15 46.6% benign(0) tolerated(0.19) neutral(0.050) HMMPfam_L_HGMIC_fpl ADRBK2 157 genome.wustl.edu 37 22 26086193 26086193 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005160.3 +1 reviewed p.R332I 1.000 121 0% 107 32.7% 0 - possibly_damaging(0.656) deleterious(0) deleterious(0.675) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ADRBK2 157 genome.wustl.edu 37 22 26110445 26110445 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005160.3 +1 reviewed p.V521A 0.997 137 0% 98 33.7% 5 0% benign(0.134) deleterious(0) neutral(0.456) HMMSmart_S_TK_X,superfamily_Kinase_like MYO18B 84700 genome.wustl.edu 37 22 26159215 26159215 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032608.5 +1 reviewed p.K19N 1.000 44 0% 76 31.6% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL MYO18B 84700 genome.wustl.edu 37 22 26306954 26306954 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032608.5 +1 reviewed p.E1767D 1.000 40 0% 34 23.5% 0 - probably_damaging(0.999) tolerated(0.18) deleterious(0.546) NULL CHEK2 11200 genome.wustl.edu 37 22 29106017 29106017 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005735.1 -1 reviewed p.E318* 1.000 74 0% 111 33.3% 2 50% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RFPL1 5988 genome.wustl.edu 37 22 29835120 29835120 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021026.2 +1 validated p.L114M 0.003 294 0% 379 29.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF57850 RFPL1 5988 genome.wustl.edu 37 22 29837752 29837752 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021026.2 +1 validated p.E199* 0.055 183 0% 238 20.6% 0 - - - - HMMPfam_SPRY,HMMSmart_SPRY NEFH 4744 genome.wustl.edu 37 22 29885873 29885873 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021076.3 +1 reviewed p.E748D 0.025 227 0% 285 32.6% 0 - - - - NULL THOC5 8563 genome.wustl.edu 37 22 29925219 29925219 + Nonsense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001002877.1 -1 validated p.L286* 0.999 187 0% 188 17.6% 4 0% - - - HMMPfam_FimP THOC5 8563 genome.wustl.edu 37 22 29938862 29938862 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001002877.1 -1 validated p.K146N 0.686 44 0% 36 19.4% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_FimP THOC5 8563 genome.wustl.edu 37 22 29945057 29945057 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001002877.1 -1 validated p.R27Q 0.915 73 0% 86 22.1% 3 33.3% possibly_damaging(0.77) deleterious(0.02) deleterious(0.669) NULL NF2 4771 genome.wustl.edu 37 22 30077491 30077491 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000268.3 +1 reviewed p.I546 0.758 139 0% 169 25.4% 2 50% - - - superfamily_Moesin tail domain,HMMPfam_ERM SEC14L4 284904 genome.wustl.edu 37 22 30890140 30890140 + Nonsense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174977.3 -1 reviewed p.R193* 0.941 79 0% 57 26.3% 0 - - - - HMMPfam_CRAL_TRIO,HMMSmart_SM00516,superfamily_CRAL/TRIO domain SEC14L4 284904 genome.wustl.edu 37 22 30890194 30890194 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174977.3 -1 reviewed p.F175V 1.000 88 0% 57 35.1% 0 - benign(0) tolerated(0.48) neutral(0.011) HMMPfam_CRAL_TRIO,HMMSmart_SM00516,superfamily_CRAL/TRIO domain PLA2G3 50487 genome.wustl.edu 37 22 31534698 31534698 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015715.3 -1 validated p.R201Q 1.000 72 0% 68 25% 0 - probably_damaging(1) tolerated(0.29) deleterious(0.529) HMMPfam_Phospholip_A2_2,superfamily_Phospholipase A2 PLA2 LIMK2 3985 genome.wustl.edu 37 22 31658762 31658762 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001031801.1 +1 reviewed p.R259M 1.000 25 0% 28 25% 11 36.3% benign(0.229) deleterious(0) neutral(0.468) NULL PIK3IP1 113791 genome.wustl.edu 37 22 31688321 31688321 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_052880.4 -1 validated p.A4T 0.955 37 0% 42 19% 24 16.6% probably_damaging(0.974) deleterious(0) deleterious(0.861) superfamily_Kringle-like EIF4ENIF1 56478 genome.wustl.edu 37 22 31838014 31838014 + Missense_Mutation SNP G G A rs150972596 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019843.3 -1 reviewed p.S766L 0.974 236 0% 214 20.1% 5 60% benign(0.014) deleterious(0.04) neutral(0.349) NULL EIF4ENIF1 56478 genome.wustl.edu 37 22 31845468 31845468 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019843.3 -1 reviewed p.S545I 1.000 219 0% 268 26.1% 1 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_EIF4E-T EIF4ENIF1 56478 genome.wustl.edu 37 22 31854494 31854494 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_019843.3 -1 reviewed p.F310L 1.000 82 0% 111 32.4% 5 60% probably_damaging(0.987) tolerated(0.1) deleterious(0.723) HMMPfam_EIF4E-T PISD 23761 genome.wustl.edu 37 22 32016555 32016555 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014338.3 -1 validated p.R296H 1.000 40 0% 29 24.1% 26 23% possibly_damaging(0.691) deleterious(0.01) deleterious(0.653) HMMPfam_PS_Dcarbxylase RFPL3-AS1 10737 genome.wustl.edu 37 22 32756141 32756141 + RNA SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NR_001450.2 -1 provisional NULL 0.002 26 0% 50 36% 1 0% - - - - BPIFC 254240 genome.wustl.edu 37 22 32813114 32813114 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174932.2 -1 validated p.L428I 0.918 338 0% 367 24.3% 0 - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom BPIFC 254240 genome.wustl.edu 37 22 32831812 32831812 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_174932.2 -1 validated p.F268C 0.869 75 0% 93 29% 0 - probably_damaging(0.97) deleterious(0) deleterious(0.857) HMMPfam_LBP_BPI_CETP_C,superfamily_Bactericidal_perm-incr_a/b_dom FBXO7 25793 genome.wustl.edu 37 22 32891500 32891500 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012179.3 +1 reviewed p.D389Y 1.000 211 0% 107 27.1% 23 43.4% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) superfamily_SSF81383 SYN3 8224 genome.wustl.edu 37 22 32929824 32929824 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003490.3 -1 reviewed p.A350 0.000 26 0% 31 25.8% 0 - - - - HMMPfam_Synapsin_C,superfamily_Glutathione synthetase ATP-binding domain-like TIMP3 7078 genome.wustl.edu 37 22 33254031 33254031 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000362.4 +1 reviewed p.T115M 1.000 104 0% 113 26.5% 11 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_TIMP,HMMSmart_SM00206,superfamily_TIMP-like TIMP3 7078 genome.wustl.edu 37 22 33255244 33255244 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000382049 +1 known p.R175W 0.232 130 0% 106 24.5% 15 0% benign(0) - - NULL APOL3 80833 genome.wustl.edu 37 22 36537946 36537946 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145640.2 -1 reviewed p.R171C 0.002 106 0% 147 33.3% 10 20% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_ApoL APOL4 80832 genome.wustl.edu 37 22 36587890 36587890 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000352371 -1 known p.D96G 0.004 205 0% 187 21.9% 1 0% possibly_damaging(0.915) tolerated(0.07) deleterious(0.685) HMMPfam_ApoL MYH9 4627 genome.wustl.edu 37 22 36716900 36716900 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002473.4 -1 reviewed p.E271* 1.000 30 0% 19 21.1% 21 0% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases CACNG2 10369 genome.wustl.edu 37 22 36962410 36962410 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006078.2 -1 reviewed p.F142 1.000 42 0% 49 38.8% 0 - - - - HMMPfam_PMP22_Claudin IL2RB 3560 genome.wustl.edu 37 22 37533663 37533663 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000878.2 -1 reviewed p.F167 0.002 95 0% 75 26.7% 2 0% - - - HMMSmart_SM00060,superfamily_Fibronectin type III CYTH4 27128 genome.wustl.edu 37 22 37705262 37705262 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013385.3 +1 reviewed p.D236N 1.000 66 0% 40 25% 13 0% benign(0.162) deleterious(0) neutral(0.459) HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7 EIF3L 51386 genome.wustl.edu 37 22 38270510 38270510 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016091.2 +1 validated p.E295D 1.000 76 0% 77 16.9% 243 17.6% possibly_damaging(0.61) tolerated(0.53) neutral(0.219) HMMPfam_Paf67 APOBEC3D 140564 genome.wustl.edu 37 22 39428283 39428283 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152426.3 +1 reviewed p.R375* 0.000 159 0.6% 207 30.4% 1 0% - - - HMMPfam_APOBEC_C APOBEC3H 164668 genome.wustl.edu 37 22 39496312 39496312 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_181773.3 +1 reviewed p.R10H 0.000 73 0% 127 31.5% 8 12.5% benign(0.412) tolerated(0.54) neutral(0.141) HMMPfam_APOBEC_N CACNA1I 8911 genome.wustl.edu 37 22 39966949 39966949 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021096.3 +1 reviewed p.Q64 1.000 57 0% 60 30% 0 - - - - superfamily_Voltage-gated potassium channels ENTHD1 150350 genome.wustl.edu 37 22 40161611 40161611 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152512.3 -1 provisional p.A279D 0.470 342 0% 342 28.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ENTHD1 150350 genome.wustl.edu 37 22 40231865 40231865 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152512.3 -1 provisional p.H231N 0.000 634 0.2% 673 27.9% 0 - benign(0) tolerated(0.98) - NULL TNRC6B 23112 genome.wustl.edu 37 22 40661412 40661412 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000446273 +1 known p.E136* 1.000 192 0% 163 27% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL TNRC6B 23112 genome.wustl.edu 37 22 40676079 40676079 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015088.2 +1 validated p.R1062* 1.000 301 0% 297 17.2% 2 0% - - - NULL SGSM3 27352 genome.wustl.edu 37 22 40804367 40804367 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015705.4 +1 validated p.F572 1.000 33 0% 15 40% 21 38% - - - HMMPfam_RUN MKL1 57591 genome.wustl.edu 37 22 40816949 40816949 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020831.3 -1 validated p.K261N 1.000 24 0% 16 31.2% 26 19.2% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SLC25A17 10478 genome.wustl.edu 37 22 41215249 41215249 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006358.2 -1 validated p.A2T 0.978 22 0% 14 28.6% 11 72.7% unknown(0) - - NULL DNAJB7 150353 genome.wustl.edu 37 22 41257293 41257293 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145174.1 -1 provisional p.E236* 0.000 160 0% 190 24.2% 0 - - - - NULL XPNPEP3 63929 genome.wustl.edu 37 22 41322427 41322427 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022098.2 +1 validated p.S504 0.577 264 0% 313 17.6% 3 0% - - - superfamily_Creatinase/aminopeptidase EP300 2033 genome.wustl.edu 37 22 41553249 41553249 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001429.3 +1 reviewed p.E1113V 1.000 104 0% 97 15.5% 0 - unknown(0) deleterious(0) - HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 XRCC6 2547 genome.wustl.edu 37 22 42042922 42042922 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001469.3 +1 reviewed p.D266Y 1.000 340 0.3% 284 19.7% 35 11.4% probably_damaging(0.989) deleterious(0.04) deleterious(0.788) HMMPfam_Ku,superfamily_SPOC-like SREBF2 6721 genome.wustl.edu 37 22 42269988 42269988 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004599.2 +1 reviewed p.E352K 1.000 67 0% 82 28% 13 23% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic SREBF2 6721 genome.wustl.edu 37 22 42276875 42276875 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000424354 +1 known p.E673* 0.999 45 0% 61 31.1% 9 44.4% - - - NULL CENPM 79019 genome.wustl.edu 37 22 42339619 42339619 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024053.3 -1 validated p.L133 1.000 11 0% 12 41.7% 61 49.1% - - - NULL MCAT 27349 genome.wustl.edu 37 22 43537190 43537190 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173467.4 -1 reviewed p.A163 0.338 80 0% 108 20.4% 19 26.3% - - - HMMPfam_Acyl_transf_1,superfamily_FabD/lysophospholipase-like,PatternScan_ABC_TRANSPORTER_1 EFCAB6 64800 genome.wustl.edu 37 22 43986067 43986067 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022785.2 -1 validated p.F973L 0.014 283 0% 252 19.8% 1 100% benign(0) tolerated(0.67) neutral(0.003) superfamily_EF-hand EFCAB6 64800 genome.wustl.edu 37 22 44168938 44168938 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022785.2 -1 validated p.R62L 0.998 115 0% 70 24.3% 0 - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) NULL SULT4A1 25830 genome.wustl.edu 37 22 44234777 44234777 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014351.3 -1 reviewed p.E160* 1.000 42 0% 26 15.4% 0 - - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases PNPLA3 80339 genome.wustl.edu 37 22 44333039 44333039 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025225.2 +1 reviewed p.S289L 0.000 60 0% 55 27.3% 2 100% benign(0) tolerated(0.3) neutral(0.029) NULL PNPLA3 80339 genome.wustl.edu 37 22 44335908 44335908 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_025225.2 +1 reviewed p.M339L 0.001 77 0% 74 28.4% 4 50% benign(0) tolerated(1) - NULL SMC1B 27127 genome.wustl.edu 37 22 45785619 45785619 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_148674.3 -1 validated p.E568D 1.000 268 0% 266 21.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540 FBLN1 2192 genome.wustl.edu 37 22 45929004 45929004 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000437711 +1 known p.R97C 0.878 41 0% 30 33.3% 649 32.8% - - - HMMSmart_SM00181,PatternScan_EGF_2,superfamily_EGF/Laminin ATXN10 25814 genome.wustl.edu 37 22 46098594 46098594 + Nonsense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_013236.3 +1 reviewed p.K172* 1.000 363 0% 339 31.3% 3 33.3% - - - superfamily_ARM-type_fold PKDREJ 10343 genome.wustl.edu 37 22 46653295 46653295 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006071.1 -1 reviewed p.F1975L 0.000 58 0% 50 40% 0 - benign(0.034) tolerated(0.14) neutral(0.252) HMMPfam_PKD_channel PKDREJ 10343 genome.wustl.edu 37 22 46654353 46654353 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006071.1 -1 reviewed p.L1623I 0.062 83 0% 118 29.7% 0 - benign(0.002) deleterious(0.02) neutral(0.383) NULL ZBED4 9889 genome.wustl.edu 37 22 50277472 50277472 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014838.2 +1 validated p.S54 0.001 50 0% 81 24.7% 0 - - - - NULL ALG12 79087 genome.wustl.edu 37 22 50298063 50298063 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024105.3 -1 reviewed p.A362T 0.726 36 0% 80 27.5% 62 41.9% benign(0) tolerated(0.45) neutral(0.012) HMMPfam_Glyco_transf_22 CHKB 1120 genome.wustl.edu 37 22 51018247 51018247 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005198.4 -1 reviewed p.R314C 0.998 41 0% 38 28.9% 9 0% benign(0.38) tolerated(0.06) neutral(0.444) superfamily_Protein kinase-like (PK-like) RABL2B 11158 genome.wustl.edu 37 22 51208418 51208418 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001130923.1 -1 reviewed p.T108 0.998 77 0% 99 22.2% 22 31.8% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000234295 0 genome.wustl.edu 37 GL000192.1 306243 306243 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000425945 -1 known p.S611* NULL 97 0% 51 19.6% 0 - - - - NULL ENSG00000234295 0 genome.wustl.edu 37 GL000192.1 311392 311392 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000425945 -1 known p.V502M NULL 93 0% 97 20.6% 0 - possibly_damaging(0.817) deleterious(0.02) deleterious(0.692) NULL ENSG00000234295 0 genome.wustl.edu 37 GL000192.1 380983 380983 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000425945 -1 known p.E173D NULL 159 0% 206 8.7% 0 - benign(0.011) tolerated(0.48) neutral(0.011) NULL KIR2DL5B 553128 genome.wustl.edu 37 GL000209.1 72024 72024 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000400847 +1 known p.F58L NULL 66 0% 61 57.4% 0 - possibly_damaging(0.917) deleterious(0) deleterious(0.812) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ENSG00000215608 0 genome.wustl.edu 37 GL000212.1 126719 126719 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000400673 +1 known p.E138D NULL 50 0% 68 33.8% 8 0% - - - NULL IL3RA 3563 genome.wustl.edu 37 X 1475188 1475188 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002183.2 +1 reviewed p.H231N 0.003 32 0% 31 54.8% 3 0% benign(0.032) tolerated(0.33) neutral(0.026) NULL IL3RA 3563 genome.wustl.edu 37 X 1477755 1477755 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002183.2 +1 reviewed p.R245I 0.003 24 0% 32 53.1% 1 0% benign(0.29) tolerated(0.16) neutral(0.149) NULL MXRA5 25878 genome.wustl.edu 37 X 3242612 3242612 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015419.3 -1 reviewed p.E372* 0.061 76 0% 83 31.3% 0 - - - - NULL MXRA5 25878 genome.wustl.edu 37 X 3261699 3261699 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_015419.3 -1 reviewed p.R59I 1.000 25 0.000 9 0.556 0 - probably_damaging(0.996) tolerated(0.08) deleterious(0.762) HMMSmart_SM00013,HMMSmart_SM00369,superfamily_L domain-like STS 412 genome.wustl.edu 37 X 7177682 7177682 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000351.4 +1 reviewed p.F230L 0.000 243 0% 209 35.9% 2 0% benign(0.001) tolerated(0.71) neutral(0.002) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core STS 412 genome.wustl.edu 37 X 7268056 7268056 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000351.4 +1 reviewed p.L502 0.996 167 0% 93 10.8% 6 16.6% - - - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core TLR7 51284 genome.wustl.edu 37 X 12904321 12904321 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016562.3 +1 reviewed p.L232I 1.000 388 0% 314 36% 0 - probably_damaging(0.998) tolerated(0.08) deleterious(0.774) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like TLR7 51284 genome.wustl.edu 37 X 12905568 12905568 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016562.3 +1 reviewed p.K647N 1.000 531 0% 366 17.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_L domain-like TLR7 51284 genome.wustl.edu 37 X 12905971 12905971 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016562.3 +1 reviewed p.H782Y 0.046 368 0% 245 22.9% 1 0% possibly_damaging(0.84) deleterious(0.04) deleterious(0.670) superfamily_L domain-like TLR8 51311 genome.wustl.edu 37 X 12938853 12938853 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138636.4 +1 reviewed p.S565* 0.000 191 0% 106 22.6% 0 - - - - superfamily_SSF52058 ATXN3L 92552 genome.wustl.edu 37 X 13337101 13337101 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001135995.1 -1 validated p.S318L 0.003 314 0% 196 28.6% 0 - benign(0.012) deleterious(0) neutral(0.445) NULL TCEANC 170082 genome.wustl.edu 37 X 13681148 13681148 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152634.2 +1 validated p.R204I 1.000 300 0% 262 34.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMSmart_SM00510 OFD1 8481 genome.wustl.edu 37 X 13764499 13764499 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003611.2 +1 reviewed p.F193 0.271 168 0% 112 10.7% 0 - - - - NULL GPM6B 2824 genome.wustl.edu 37 X 13798106 13798106 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000472735 -1 known p.R32C 0.996 345 0% 192 41.7% 1 100% - - - HMMPfam_Myelin_PLP ASB11 140456 genome.wustl.edu 37 X 15306080 15306080 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080873.1 -1 reviewed p.R257I 0.155 106 0% 66 22.7% 0 - possibly_damaging(0.444) deleterious(0) deleterious(0.590) HMMPfam_Ank,superfamily_ANK ASB11 140456 genome.wustl.edu 37 X 15333553 15333553 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080873.1 -1 reviewed p.I59V 0.998 245 0% 110 30% 0 - benign(0) tolerated(0.95) - superfamily_ANK PIGA 5277 genome.wustl.edu 37 X 15342918 15342918 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002641.2 -1 reviewed p.K353Q 1.000 281 0% 179 45.8% 1 100% benign(0.019) tolerated(0.45) neutral(0.013) HMMPfam_Glycos_transf_1,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase BMX 660 genome.wustl.edu 37 X 15560270 15560270 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001721.6 +1 reviewed p.V520 0.843 348 0% 263 10.3% 1 100% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like SYAP1 94056 genome.wustl.edu 37 X 16778479 16778479 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032796.3 +1 validated p.N352K 0.823 140 0% 112 10.7% 16 0% possibly_damaging(0.647) tolerated(0.07) deleterious(0.546) NULL TXLNG 55787 genome.wustl.edu 37 X 16836938 16836938 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018360.2 +1 reviewed p.R115Q 1.000 109 0% 85 12.9% 4 0% probably_damaging(0.992) deleterious(0.05) deleterious(0.793) NULL RBBP7 5931 genome.wustl.edu 37 X 16870185 16870185 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002893.3 -1 reviewed p.N342H 1.000 697 0% 513 33.3% 194 74.2% benign(0.031) tolerated(0.56) neutral(0.008) HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 NHS 4810 genome.wustl.edu 37 X 17744785 17744785 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198270.2 +1 reviewed p.K832 1.000 724 0% 445 39.3% 2 0% - - - NULL RAI2 10742 genome.wustl.edu 37 X 17818977 17818977 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021785.4 -1 reviewed p.S385Y 0.992 161 0% 109 30.3% 70 82.8% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL BEND2 139105 genome.wustl.edu 37 X 18221838 18221838 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153346.4 -1 validated p.F230 0.000 456 0% 292 33.9% 0 - - - - NULL GPR64 10149 genome.wustl.edu 37 X 19017287 19017287 + Missense_Mutation SNP C C T rs184370776 by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001079858.2 -1 validated p.R814Q 1.000 271 0% 206 40.3% 2 50% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like SH3KBP1 30011 genome.wustl.edu 37 X 19554565 19554565 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031892.2 -1 reviewed p.N656 0.928 88 0% 68 44.1% 9 44.4% - - - NULL CXorf23 256643 genome.wustl.edu 37 X 19983366 19983366 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198279.3 -1 validated p.K357T 0.025 272 0% 196 39.8% 0 - possibly_damaging(0.944) tolerated(0.23) neutral(0.430) NULL MAP7D2 256714 genome.wustl.edu 37 X 20043079 20043079 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152780.3 -1 validated p.E427* 0.995 309 0% 204 13.2% 0 - - - - HMMPfam_MAP7 ENSG00000249566 0 genome.wustl.edu 37 X 23094310 23094310 + RNA SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000508288 -1 novel NULL 0.999 171 0% 66 37.9% 59 0% - - - - ENSG00000249566 0 genome.wustl.edu 37 X 23095028 23095028 + RNA SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000508288 -1 novel NULL 0.994 132 0% 56 32.1% 33 0% - - - - FAM48B2 170067 genome.wustl.edu 37 X 24330346 24330346 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001136233.1 -1 provisional p.L363I 0.000 124 0% 100 33% 0 - - - - NULL MAGEB6 158809 genome.wustl.edu 37 X 26212571 26212571 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173523.2 +1 reviewed p.A203V 0.000 167 0% 153 13.7% 0 - benign(0) tolerated(1) - HMMPfam_MAGE DCAF8L1 139425 genome.wustl.edu 37 X 27999214 27999214 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001017930.1 -1 reviewed p.E80K 0.514 312 0% 178 38.8% 0 - benign(0) deleterious(0.02) neutral(0.383) NULL IL1RAPL1 11141 genome.wustl.edu 37 X 28807472 28807472 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014271.3 +1 reviewed p.P4 0.816 110 0% 91 20.9% 0 - - - - NULL IL1RAPL1 11141 genome.wustl.edu 37 X 29417401 29417401 + Silent SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014271.3 +1 reviewed p.R227 1.000 165 0% 83 36.1% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin IL1RAPL1 11141 genome.wustl.edu 37 X 29972771 29972771 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014271.3 +1 reviewed p.K445T 1.000 200 0% 96 15.6% 0 - probably_damaging(0.989) tolerated(0.08) deleterious(0.740) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain MAGEB2 4113 genome.wustl.edu 37 X 30236749 30236749 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002364.4 +1 reviewed p.A18T 0.000 61 0% 51 31.4% 0 - benign(0.049) tolerated(0.22) neutral(0.045) NULL NR0B1 190 genome.wustl.edu 37 X 30322827 30322827 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000475.4 -1 reviewed p.E428K 0.982 311 0% 204 31.9% 0 - probably_damaging(0.995) tolerated(0.44) deleterious(0.470) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain GK 2710 genome.wustl.edu 37 X 30712610 30712610 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001128127.1 +1 reviewed p.E170* 0.842 127 0% 77 32.5% 1 0% - - - HMMPfam_FGGY_N,superfamily_SSF53067 TAB3 257397 genome.wustl.edu 37 X 30852233 30852233 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152787.3 -1 reviewed p.R642Q 1.000 53 0% 38 21.1% 0 - probably_damaging(0.973) tolerated(0.09) deleterious(0.712) NULL DMD 1756 genome.wustl.edu 37 X 31196076 31196076 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004006.2 -1 reviewed p.L3412R 1.000 98 0% 70 24.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DMD 1756 genome.wustl.edu 37 X 31792291 31792291 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000465285 -1 known p.Y171* 1.000 132 0% 78 23.1% 0 - benign(0.15) tolerated(0.43) neutral(0.026) NULL DMD 1756 genome.wustl.edu 37 X 31950313 31950313 + Missense_Mutation SNP A A T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004006.2 -1 reviewed p.F2216I 1.000 311 0% 128 47.7% 0 - benign(0.21) tolerated(0.07) neutral(0.340) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32360240 32360240 + Nonsense_Mutation SNP G G A rs128626249 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004006.2 -1 reviewed p.R1967* 1.000 89 0% 56 26.8% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32503187 32503187 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004006.2 -1 reviewed p.Q884 0.999 197 0% 158 36.1% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32583957 32583957 + Silent SNP G G C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004006.2 -1 reviewed p.G618 1.000 139 0% 110 42.7% 0 - - - - HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32591909 32591909 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004006.2 -1 reviewed p.L553I 0.997 73 0% 44 13.6% 0 - benign(0.012) tolerated(0.12) neutral(0.261) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat FAM47A 158724 genome.wustl.edu 37 X 34148392 34148392 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203408.3 -1 validated p.F668L 0.129 329 0% 225 40.4% 0 - probably_damaging(0.971) tolerated(0.08) deleterious(0.713) NULL CYBB 1536 genome.wustl.edu 37 X 37664376 37664376 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000397.3 +1 reviewed p.V423 1.000 214 0% 159 10.7% 30 0% - - - HMMPfam_NAD_binding_6,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain CXorf27 25763 genome.wustl.edu 37 X 37850416 37850416 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012274.1 +1 validated p.D108E 0.021 134 0% 54 35.2% 0 - possibly_damaging(0.935) deleterious(0) deleterious(0.825) superfamily_Histone-fold SYTL5 94122 genome.wustl.edu 37 X 37948763 37948763 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138780.2 +1 reviewed p.R252W 0.000 75 0% 54 11.1% 0 - possibly_damaging(0.598) tolerated(0.18) neutral(0.263) HMMPfam_RPH3A_effector OTC 5009 genome.wustl.edu 37 X 38271192 38271192 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000531.5 +1 reviewed p.V315 0.864 589 0% 409 39.1% 0 - - - - superfamily_Aspartate/ornithine carbamoyltransferase,HMMPfam_OTCace MED14 9282 genome.wustl.edu 37 X 40522196 40522196 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004229.3 -1 reviewed p.R1222I 1.000 111 0% 52 48.1% 4 100% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL CASK 8573 genome.wustl.edu 37 X 41390380 41390380 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003688.3 -1 reviewed p.I795 1.000 209 0.5% 152 32.9% 20 50% - - - HMMPfam_Guanylate_kin,HMMSmart_GuKc,superfamily_SSF52540 MAOA 4128 genome.wustl.edu 37 X 43601289 43601289 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000240.2 +1 reviewed p.Y419 0.998 89 0% 41 41.5% 0 - - - - HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain CDK16 5127 genome.wustl.edu 37 X 47085748 47085748 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033018.3 +1 reviewed p.K294T 1.000 48 0% 34 29.4% 235 81.2% probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ZNF41 7592 genome.wustl.edu 37 X 47308573 47308573 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007130.2 -1 reviewed p.T199N 0.966 334 0% 246 35.4% 0 - possibly_damaging(0.667) tolerated(0.57) neutral(0.242) NULL ZNF41 7592 genome.wustl.edu 37 X 47315387 47315387 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007130.2 -1 reviewed p.A76 0.190 113 0% 89 31.5% 2 100% - - - HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF182 7569 genome.wustl.edu 37 X 47836169 47836169 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006962.1 -1 reviewed p.F439L 0.969 239 0% 176 10.8% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF630 57232 genome.wustl.edu 37 X 47917908 47917908 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001037735.2 -1 validated p.Y641* 0.001 121 0% 94 44.7% 2 50% - - - HMMSmart_ZnF_C2H2,superfamily_SSF57667 PORCN 64840 genome.wustl.edu 37 X 48372644 48372644 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_203475.1 +1 reviewed p.E246K 1.000 86 0% 49 10.2% 22 0% benign(0.033) tolerated(0.12) neutral(0.262) HMMPfam_MBOAT HDAC6 10013 genome.wustl.edu 37 X 48672931 48672931 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006044.2 +1 reviewed p.F297 0.000 129 0% 92 40.2% 6 50% - - - HMMPfam_Hist_deacetyl,superfamily_SSF52768 SLC35A2 7355 genome.wustl.edu 37 X 48763749 48763749 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005660.1 -1 provisional p.A116T 1.000 40 0% 37 27% 51 86.2% benign(0.208) deleterious(0.03) neutral(0.385) HMMPfam_Nuc_sug_transp,superfamily_Multidrug resistance efflux transporter EmrE PIM2 11040 genome.wustl.edu 37 X 48772313 48772313 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006875.3 -1 reviewed p.P193 0.006 47 0% 49 12.2% 34 0% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CACNA1F 778 genome.wustl.edu 37 X 49071615 49071615 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005183.2 -1 reviewed p.V1187 1.000 63 0% 101 42.6% 0 - - - - superfamily_Voltage-gated potassium channels MIR362 574030 genome.wustl.edu 37 X 49773606 49773606 + RNA SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000385280 +1 known NULL 0.026 65 0% 43 14% 0 - - - - - AKAP4 8852 genome.wustl.edu 37 X 49958661 49958661 + Missense_Mutation SNP C C T rs147442985 TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003886.2 -1 reviewed p.E235K 1.000 477 0.2% 298 39.9% 0 - possibly_damaging(0.942) deleterious(0) deleterious(0.832) HMMSmart_SM00807 CCNB3 85417 genome.wustl.edu 37 X 50053138 50053138 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033031.2 +1 reviewed p.E657* 0.001 160 0% 85 41.2% 0 - - - - NULL CCNB3 85417 genome.wustl.edu 37 X 50055608 50055608 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033031.2 +1 reviewed p.I1133 1.000 297 0% 192 44.8% 0 - - - - HMMPfam_Cyclin_N,superfamily_Cyclin-like CXorf67 340602 genome.wustl.edu 37 X 51150972 51150972 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000342995 +1 known p.E368D 0.000 63 0% 37 13.5% 0 - possibly_damaging(0.868) tolerated(0.6) neutral(0.342) NULL MAGED1 9500 genome.wustl.edu 37 X 51638592 51638592 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001005333.1 +1 reviewed p.F219L 1.000 77 0% 33 42.4% 79 94.9% probably_damaging(0.973) tolerated(0.35) neutral(0.435) NULL SSX7 280658 genome.wustl.edu 37 X 52679436 52679436 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173358.2 -1 reviewed p.M99I 0.005 466 0% 356 42.1% 0 - benign(0.017) deleterious(0.05) neutral(0.346) NULL HUWE1 10075 genome.wustl.edu 37 X 53644303 53644303 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_031407.4 -1 reviewed p.D593Y 1.000 59 0% 44 25% 0 - possibly_damaging(0.951) deleterious(0.01) deleterious(0.800) HMMPfam_DUF913,superfamily_ARM repeat ENSG00000221750 0 genome.wustl.edu 37 X 54953765 54953765 + RNA SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000408823 +1 novel NULL 0.011 40 0% 16 43.8% 0 - - - - - TRO 7216 genome.wustl.edu 37 X 54955296 54955296 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039705.1 +1 reviewed p.E713 0.995 90 0% 41 39% 0 - - - - NULL TRO 7216 genome.wustl.edu 37 X 54955968 54955968 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039705.1 +1 reviewed p.V937 0.000 123 0% 52 23.1% 0 - - - - NULL TRO 7216 genome.wustl.edu 37 X 54957288 54957288 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001039705.1 +1 reviewed p.F1377L 0.065 128 0% 55 12.7% 0 - probably_damaging(0.973) deleterious(0.04) deleterious(0.764) NULL PAGE2 203569 genome.wustl.edu 37 X 55117012 55117012 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207339.2 +1 provisional p.E54D 0.001 199 0% 111 42.3% 0 - benign(0.139) deleterious(0) neutral(0.457) HMMPfam_GAGE FOXR2 139628 genome.wustl.edu 37 X 55650163 55650163 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198451.3 +1 validated p.D7Y 0.000 184 0% 100 30% 0 - possibly_damaging(0.527) deleterious(0.03) deleterious(0.542) NULL ASB12 142689 genome.wustl.edu 37 X 63444876 63444876 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_130388.2 -1 reviewed p.R210C 0.772 119 0% 114 36.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ANK MTMR8 55613 genome.wustl.edu 37 X 63574803 63574803 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017677.3 -1 reviewed p.D108Y 1.000 130 0% 55 23.6% 0 - possibly_damaging(0.741) deleterious(0) deleterious(0.716) superfamily_PH domain-like MSN 4478 genome.wustl.edu 37 X 64958439 64958439 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002444.2 +1 reviewed p.R435L 1.000 61 0% 50 20% 106 33.9% benign(0.002) tolerated(0.17) neutral(0.059) HMMPfam_ERM LOC100288788 100288788 genome.wustl.edu 37 X 65177010 65177010 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343822.1 -1 model p.F10C 1.000 262 0% 197 32.5% 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361 VSIG4 11326 genome.wustl.edu 37 X 65253370 65253370 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007268.2 -1 reviewed p.P120S 0.894 451 0% 440 36.8% 5 0% possibly_damaging(0.909) tolerated(0.24) neutral(0.399) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin HEPH 9843 genome.wustl.edu 37 X 65478765 65478765 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138737.3 +1 reviewed p.G997C 1.000 57 0% 58 10.3% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cupredoxins,HMMPfam_Cu-oxidase_2 EDA2R 60401 genome.wustl.edu 37 X 65819382 65819382 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021783.2 -1 reviewed p.E280K 0.002 48 0% 26 42.3% 0 - possibly_damaging(0.892) deleterious(0) deleterious(0.796) NULL EDA2R 60401 genome.wustl.edu 37 X 65819463 65819463 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021783.2 -1 reviewed p.E253K 0.995 34 0% 26 46.2% 0 - benign(0.004) deleterious(0) neutral(0.445) NULL OPHN1 4983 genome.wustl.edu 37 X 67316726 67316726 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002547.2 -1 reviewed p.E558K 1.000 301 0% 218 32.1% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMSmart_RhoGAP,superfamily_Rho_GAP OPHN1 4983 genome.wustl.edu 37 X 67652753 67652753 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002547.2 -1 reviewed p.K37T 1.000 81 0% 47 42.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PJA1 64219 genome.wustl.edu 37 X 68381693 68381693 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145119.3 -1 reviewed p.W463C 0.998 147 0% 137 32.1% 16 87.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL OTUD6A 139562 genome.wustl.edu 37 X 69282602 69282602 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207320.1 +1 provisional p.V76 0.000 12 0% 19 42.1% 0 - - - - NULL OTUD6A 139562 genome.wustl.edu 37 X 69283004 69283004 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_207320.1 +1 provisional p.I210 0.010 23 0% 27 48.1% 0 - - - - HMMPfam_OTU,superfamily_SSF54001 KIF4A 24137 genome.wustl.edu 37 X 69595117 69595117 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012310.4 +1 reviewed p.K614N 1.000 156 0% 126 42.9% 5 100% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL MED12 9968 genome.wustl.edu 37 X 70347824 70347824 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005120.2 +1 reviewed p.F1021L 0.999 144 0% 97 34% 3 100% probably_damaging(0.99) tolerated(0.24) deleterious(0.479) NULL NONO 4841 genome.wustl.edu 37 X 70517767 70517767 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000418921 +1 known p.S232* 1.000 28 0% 27 63% 532 87% unknown(0) tolerated(0.45) - NULL TAF1 6872 genome.wustl.edu 37 X 70612539 70612539 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004606.3 +1 reviewed p.K988E 1.000 237 0% 152 34.9% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL RGAG4 340526 genome.wustl.edu 37 X 71350784 71350784 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001024455.3 -1 validated p.A203T 0.995 84 0% 52 11.5% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_Retrotrans_gag RGAG4 340526 genome.wustl.edu 37 X 71351349 71351349 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001024455.3 -1 validated p.A14 0.954 50 0% 34 11.8% 0 - - - - NULL ERCC6L 54821 genome.wustl.edu 37 X 71425953 71425953 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017669.2 -1 validated p.E888D 0.101 353 0% 193 45.6% 0 - possibly_damaging(0.718) tolerated(0.36) neutral(0.280) NULL PHKA1 5255 genome.wustl.edu 37 X 71825457 71825457 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002637.3 -1 reviewed p.Y873 0.999 217 0% 149 36.2% 1 100% - - - HMMPfam_PHK_AB CDX4 1046 genome.wustl.edu 37 X 72674416 72674416 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005193.1 +1 provisional p.E284K 0.997 95 0% 64 32.8% 0 - possibly_damaging(0.8) deleterious(0) deleterious(0.746) NULL KIAA2022 340533 genome.wustl.edu 37 X 73963534 73963534 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001008537.2 -1 validated p.F286L 0.998 641 0% 400 40.7% 0 - benign(0.135) deleterious(0) neutral(0.456) NULL MAGEE2 139599 genome.wustl.edu 37 X 75004058 75004058 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138703.4 -1 validated p.E277* 0.048 210 0% 158 36.1% 0 - - - - NULL ATRX 546 genome.wustl.edu 37 X 76912116 76912116 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000489.3 -1 reviewed p.D1383A 1.000 345 0% 214 46.3% 1 100% probably_damaging(0.991) tolerated(0.25) deleterious(0.481) NULL ATRX 546 genome.wustl.edu 37 X 76938212 76938212 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000489.3 -1 reviewed p.D846Y 0.002 1022 0% 582 42.8% 0 - benign(0.001) deleterious(0.01) neutral(0.406) NULL ATRX 546 genome.wustl.edu 37 X 76972615 76972615 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000489.3 -1 reviewed p.Q42H 0.645 432 0% 218 20.6% 0 - benign(0.218) deleterious(0.02) neutral(0.405) NULL CYSLTR1 10800 genome.wustl.edu 37 X 77528356 77528356 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006639.2 -1 reviewed p.F296L 1.000 207 0% 150 52% 0 - benign(0.041) deleterious(0.01) neutral(0.408) superfamily_Family A G protein-coupled receptor-like TBX22 50945 genome.wustl.edu 37 X 79282783 79282783 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001109878.1 +1 reviewed p.P276H 1.000 111 0% 57 38.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd FAM46D 169966 genome.wustl.edu 37 X 79699002 79699002 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152630.4 +1 validated p.L322I 0.996 278 0% 172 49.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF1693 BRWD3 254065 genome.wustl.edu 37 X 80001135 80001135 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153252.4 -1 reviewed p.R175I 1.000 143 0% 107 43.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00320,HMMPfam_WD40 CYLC1 1538 genome.wustl.edu 37 X 83128870 83128870 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021118.1 +1 provisional p.R385I 0.107 129 0.8% 128 43% 0 - unknown(0) tolerated(0.08) - NULL CYLC1 1538 genome.wustl.edu 37 X 83129529 83129529 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021118.1 +1 provisional p.E605* 0.998 240 0% 308 40.9% 0 - - - - NULL RPS6KA6 27330 genome.wustl.edu 37 X 83361979 83361979 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014496.4 -1 reviewed p.S394Y 0.523 156 0% 95 44.2% 0 - benign(0.257) deleterious(0.01) neutral(0.432) HMMPfam_Pkinase_C HDX 139324 genome.wustl.edu 37 X 83581232 83581232 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144657.4 -1 validated p.R634I 1.000 267 0% 150 19.3% 0 - possibly_damaging(0.801) deleterious(0.02) deleterious(0.684) NULL HDX 139324 genome.wustl.edu 37 X 83723879 83723879 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144657.4 -1 validated p.Q284H 1.000 331 0% 233 35.6% 0 - benign(0) deleterious(0.04) neutral(0.349) NULL POF1B 79983 genome.wustl.edu 37 X 84634289 84634289 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024921.3 -1 reviewed p.G57 0.990 90 0% 50 12% 1 0% - - - NULL CHM 1121 genome.wustl.edu 37 X 85218695 85218695 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000390.2 -1 reviewed p.R226I 1.000 154 0% 64 43.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_GDI,superfamily_SSF51905 DACH2 117154 genome.wustl.edu 37 X 85769311 85769311 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_053281.3 +1 reviewed p.S186Y 1.000 110 0% 69 50.7% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL TGIF2LX 90316 genome.wustl.edu 37 X 89177398 89177398 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138960.3 +1 reviewed p.R105H 0.287 301 0% 179 25.7% 0 - possibly_damaging(0.931) deleterious(0) deleterious(0.822) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like PCDH11X 27328 genome.wustl.edu 37 X 91133075 91133075 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032968.3 +1 reviewed p.E612 0.044 244 0% 118 39% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH11X 27328 genome.wustl.edu 37 X 91133599 91133599 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032968.3 +1 reviewed p.R787H 0.422 270 0% 141 34% 0 - benign(0.14) tolerated(0.39) neutral(0.028) HMMPfam_Protocadherin DIAPH2 1730 genome.wustl.edu 37 X 96013171 96013171 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006729.4 +1 reviewed p.E121K 1.000 116 0% 74 36.5% 0 - unknown(0) deleterious(0.05) - HMMPfam_Drf_GBD DIAPH2 1730 genome.wustl.edu 37 X 96185753 96185753 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006729.4 +1 reviewed p.N334H 1.000 186 0% 112 40.2% 1 100% unknown(0) deleterious(0.01) - HMMPfam_Drf_FH3 TNMD 64102 genome.wustl.edu 37 X 99854051 99854051 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_022144.2 +1 reviewed p.L206I 0.995 123 0.8% 67 41.8% 0 - benign(0) tolerated(0.44) neutral(0.013) NULL XKRX 402415 genome.wustl.edu 37 X 100183167 100183167 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_212559.2 -1 reviewed p.L56V 1.000 478 0% 278 39.2% 1 100% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL CENPI 2491 genome.wustl.edu 37 X 100402762 100402762 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_006733.2 +1 reviewed p.N613H 0.922 214 0% 104 43.3% 2 50% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL DRP2 1821 genome.wustl.edu 37 X 100497444 100497444 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001939.2 +1 reviewed p.R320Q 0.982 257 0% 178 42.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin BTK 695 genome.wustl.edu 37 X 100630208 100630208 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000061.2 -1 reviewed p.P22H 1.000 344 0% 255 23.9% 0 - unknown(0) deleterious(0) - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 GLA 2717 genome.wustl.edu 37 X 100653821 100653821 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000169.2 -1 reviewed p.E251 0.001 365 0% 234 9.8% 24 4.1% - - - superfamily_(Trans)glycosidases HNRNPH2 3188 genome.wustl.edu 37 X 100667551 100667551 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001032393.1 +1 reviewed p.R192Q 1.000 159 0% 127 40.9% 18 94.4% possibly_damaging(0.691) tolerated(0.07) deleterious(0.567) superfamily_RNA-binding domain RBD ARMCX1 51309 genome.wustl.edu 37 X 100809056 100809056 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016608.1 +1 reviewed p.W381C 1.000 363 0% 297 23.6% 0 - benign(0.009) deleterious(0.05) neutral(0.346) HMMPfam_DUF634,superfamily_ARM-type_fold TCEAL2 140597 genome.wustl.edu 37 X 101382465 101382465 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_080390.3 +1 reviewed p.T221 0.000 382 0% 269 46.8% 1 0% - - - NULL NXF2B 728343 genome.wustl.edu 37 X 101623471 101623471 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099686.1 -1 provisional p.Q235H 0.282 671 0% 740 14.7% 0 - benign(0.151) deleterious(0.02) neutral(0.397) superfamily_SSF52058 GPRASP1 9737 genome.wustl.edu 37 X 101908928 101908928 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099410.1 +1 reviewed p.E29D 0.540 334 0% 162 40.1% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL TCEAL7 56849 genome.wustl.edu 37 X 102586609 102586609 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_152278.2 +1 provisional p.S93Y 0.067 528 0% 605 31.6% 1 0% benign(0.025) deleterious(0) neutral(0.446) HMMPfam_TFA ZCCHC18 644353 genome.wustl.edu 37 X 103359807 103359807 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001143978.1 +1 provisional p.G335 0.007 96 0% 63 28.6% 0 - - - - NULL IL1RAPL2 26280 genome.wustl.edu 37 X 105011230 105011230 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017416.1 +1 reviewed p.S546Y 1.000 394 0% 267 38.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain NRK 203447 genome.wustl.edu 37 X 105125753 105125753 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198465.2 +1 validated p.S78Y 1.000 16 0% 11 45.5% 0 - possibly_damaging(0.722) deleterious(0.02) deleterious(0.645) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NRK 203447 genome.wustl.edu 37 X 105168998 105168998 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_198465.2 +1 validated p.S1096Y 0.000 417 0% 340 11.2% 0 - benign(0.014) deleterious(0.01) neutral(0.406) NULL SERPINA7 6906 genome.wustl.edu 37 X 105280540 105280540 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000354.5 -1 reviewed p.K170N 0.000 437 0% 327 20.2% 0 - benign(0.01) tolerated(0.16) neutral(0.060) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin LOC644504 644504 genome.wustl.edu 37 X 105570773 105570773 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_001128075.2 +1 model p.E51* 1.000 163 0% 102 29.4% 0 - - - - HMMPfam_CHGN,superfamily_Nucleotide-diphospho-sugar transferases CXorf57 55086 genome.wustl.edu 37 X 105883929 105883929 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018015.5 +1 validated p.L628I 0.004 671 0% 467 40.9% 0 - benign(0.012) tolerated(0.67) neutral(0.003) NULL CXorf57 55086 genome.wustl.edu 37 X 105905370 105905370 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018015.5 +1 validated p.Y702D 0.066 266 0% 140 40% 0 - benign(0) tolerated(0.56) neutral(0.006) NULL TBC1D8B 54885 genome.wustl.edu 37 X 106083339 106083339 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017752.2 +1 validated p.V472A 1.000 255 0% 151 11.3% 0 - possibly_damaging(0.451) deleterious(0.01) deleterious(0.553) superfamily_Ypt/Rab-GAP domain of gyp1p TBC1D8B 54885 genome.wustl.edu 37 X 106093485 106093485 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_017752.2 +1 validated p.L690V 1.000 364 0% 222 22.1% 0 - benign(0.104) tolerated(0.89) neutral(0.008) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p MORC4 79710 genome.wustl.edu 37 X 106186104 106186104 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024657.4 -1 reviewed p.E673* 0.914 770 0% 516 32% 6 33.3% - - - NULL RBM41 55285 genome.wustl.edu 37 X 106331957 106331957 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018301.3 -1 validated p.P212 1.000 232 0% 167 18.6% 1 100% - - - NULL RBM41 55285 genome.wustl.edu 37 X 106332018 106332018 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018301.3 -1 validated p.F192C 0.999 255 0% 162 32.1% 0 - possibly_damaging(0.716) deleterious(0.01) deleterious(0.665) NULL NUP62CL 54830 genome.wustl.edu 37 X 106397395 106397395 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000432145 -1 known p.E24* 0.949 219 0% 116 52.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nsp1_C FRMPD3 84443 genome.wustl.edu 37 X 106808267 106808267 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_042978.6 +1 model p.R456W 1.000 124 0% 66 36.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MID2 11043 genome.wustl.edu 37 X 107169397 107169397 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012216.3 +1 reviewed p.E557D 1.000 202 0% 231 55% 0 - possibly_damaging(0.882) tolerated(0.31) neutral(0.371) NULL VSIG1 340547 genome.wustl.edu 37 X 107310301 107310301 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182607.4 +1 reviewed p.D117N 0.985 568 0% 418 40.9% 0 - probably_damaging(0.999) tolerated(0.44) deleterious(0.503) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 VSIG1 340547 genome.wustl.edu 37 X 107320330 107320330 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182607.4 +1 reviewed p.D295Y 0.005 551 0% 356 30.9% 2 0% possibly_damaging(0.716) deleterious(0.02) deleterious(0.642) NULL COL4A6 1288 genome.wustl.edu 37 X 107418374 107418374 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001847.2 -1 reviewed p.G969* 1.000 295 0% 231 29.9% 0 - - - - HMMPfam_Collagen COL4A5 1287 genome.wustl.edu 37 X 107936062 107936062 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033380.1 +1 reviewed p.R1538I 1.000 276 0% 191 35.6% 9 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold TMEM164 84187 genome.wustl.edu 37 X 109416479 109416479 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_032227.3 +1 validated p.E232K 1.000 244 0% 125 24.8% 2 100% benign(0.056) tolerated(0.57) neutral(0.009) NULL TRPC5 7224 genome.wustl.edu 37 X 111097016 111097016 + Missense_Mutation SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_012471.2 -1 reviewed p.I407V 1.000 212 0% 134 17.9% 0 - possibly_damaging(0.573) tolerated(0.24) neutral(0.234) HMMPfam_Ion_trans ZCCHC16 340595 genome.wustl.edu 37 X 111698344 111698344 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001004308.2 +1 validated p.L130I 0.043 536 0% 336 45.5% 0 - probably_damaging(0.959) tolerated(0.37) neutral(0.422) NULL HTR2C 3358 genome.wustl.edu 37 X 114141243 114141243 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000868.2 +1 reviewed p.F214L 1.000 355 0% 185 40% 0 - unknown(0) deleterious(0.01) - HMMPfam_7tm_1,superfamily_SSF81321 HTR2C 3358 genome.wustl.edu 37 X 114141388 114141388 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000868.2 +1 reviewed p.F263V 0.006 336 0% 166 38% 0 - unknown(0) - - HMMPfam_7tm_1,superfamily_SSF81321 LOC642357 642357 genome.wustl.edu 37 X 114938359 114938359 + RNA SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_016681.3 +1 model NULL 0.997 24 0% 42 35.7% 4 0% - - - - AGTR2 186 genome.wustl.edu 37 X 115303997 115303997 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000686.4 +1 reviewed p.R155I 1.000 808 0% 422 39.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SLC6A14 11254 genome.wustl.edu 37 X 115584287 115584287 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_007231.3 +1 reviewed p.D422A 1.000 260 0% 167 33.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_SNF KLHL13 90293 genome.wustl.edu 37 X 117044002 117044002 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_033495.3 -1 reviewed p.E210K 1.000 223 0.4% 246 37.8% 1 100% benign(0.041) tolerated(0.4) neutral(0.018) HMMPfam_BACK IL13RA1 3597 genome.wustl.edu 37 X 117892034 117892034 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001560.2 +1 reviewed p.K169Q 0.249 231 0% 215 42.3% 4 100% benign(0.002) tolerated(0.35) neutral(0.021) HMMPfam_Haemat_rec_S_F2,PatternScan_HEMATOPO_REC_S_F2,superfamily_Fibronectin type III ZCCHC12 170261 genome.wustl.edu 37 X 117960324 117960324 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173798.2 +1 provisional p.L373V 0.997 202 0% 249 38.2% 8 100% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL KIAA1210 57481 genome.wustl.edu 37 X 118227973 118227973 + Silent SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020721.1 -1 validated p.P451 0.000 202 0% 140 35.7% 0 - - - - NULL KIAA1210 57481 genome.wustl.edu 37 X 118239046 118239046 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020721.1 -1 validated p.S326Y 0.001 292 0% 203 38.9% 0 - probably_damaging(0.999) - - NULL KIAA1210 57481 genome.wustl.edu 37 X 118250588 118250588 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020721.1 -1 validated p.F174S 1.000 70 0% 55 27.3% 0 - probably_damaging(0.999) - - NULL KIAA1210 57481 genome.wustl.edu 37 X 118284277 118284277 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_020721.1 -1 validated p.R89Q 0.000 35 0% 15 40% 0 - unknown(0) - - NULL SLC25A43 203427 genome.wustl.edu 37 X 118587016 118587016 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_145305.2 +1 reviewed p.K338 0.998 208 0% 176 38.6% 0 - - - - NULL CUL4B 8450 genome.wustl.edu 37 X 119680466 119680466 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003588.3 -1 reviewed p.S279* 1.000 97 0% 86 37.2% 0 - - - - HMMPfam_Cullin,superfamily_Cullin repeat C1GALT1C1 29071 genome.wustl.edu 37 X 119760440 119760440 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001011551.2 -1 reviewed p.M194I 1.000 285 0% 155 31.6% 6 50% benign(0) tolerated(0.09) neutral(0.296) NULL GRIA3 2892 genome.wustl.edu 37 X 122460031 122460031 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000828.4 +1 reviewed p.A221V 0.995 361 0% 259 27.4% 0 - - - - NULL STAG2 10735 genome.wustl.edu 37 X 123176490 123176490 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042749.1 +1 validated p.D153N 1.000 116 0% 58 43.1% 3 33.3% benign(0.011) tolerated(0.24) neutral(0.038) NULL LOC100129231 100129231 genome.wustl.edu 37 X 123338764 123338764 + RNA SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XR_078598.1 -1 model NULL 1.000 18 0% 21 33.3% 0 - - - - - ODZ1 10178 genome.wustl.edu 37 X 123514725 123514725 + Silent SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014253.3 -1 reviewed p.N2613 1.000 358 0.6% 240 53.3% 0 - - - - NULL ODZ1 10178 genome.wustl.edu 37 X 123518085 123518085 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014253.3 -1 reviewed p.I2225M 0.317 339 0% 196 52.6% 0 - possibly_damaging(0.903) tolerated(0.13) deleterious(0.611) NULL ODZ1 10178 genome.wustl.edu 37 X 123518515 123518515 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_014253.3 -1 reviewed p.V2082A 1.000 315 0% 169 13% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DCAF12L2 340578 genome.wustl.edu 37 X 125298579 125298579 + Silent SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013628.2 -1 reviewed p.L443 0.999 100 0% 78 32.1% 0 - - - - NULL DCAF12L2 340578 genome.wustl.edu 37 X 125298988 125298988 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001013628.2 -1 reviewed p.R307Q 1.000 92 0% 76 34.2% 0 - probably_damaging(0.986) tolerated(0.84) neutral(0.435) superfamily_WD40_like OCRL 4952 genome.wustl.edu 37 X 128710006 128710006 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000276.3 +1 reviewed p.R616W 1.000 597 0% 299 44.1% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL BCORL1 63035 genome.wustl.edu 37 X 129149114 129149114 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_021946.3 +1 reviewed p.R789H 1.000 72 0% 47 31.9% 0 - possibly_damaging(0.501) tolerated(0.21) neutral(0.212) NULL ARHGAP36 158763 genome.wustl.edu 37 X 130217834 130217834 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_144967.3 +1 validated p.R149H 0.982 202 0% 126 52.4% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL MST4 51765 genome.wustl.edu 37 X 131188763 131188763 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016542.3 +1 reviewed p.V49 1.000 224 0% 114 11.4% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase DDX26B 203522 genome.wustl.edu 37 X 134714072 134714072 + Nonsense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_182540.4 +1 validated p.R790* 1.000 138 0% 101 49.5% 1 100% - - - NULL SLC9A6 10479 genome.wustl.edu 37 X 135067916 135067916 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001042537.1 +1 reviewed p.I85M 0.998 186 0% 209 42.6% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Na_H_Exchanger MAP7D3 79649 genome.wustl.edu 37 X 135314006 135314006 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_024597.3 -1 reviewed p.P370 0.000 143 0.7% 120 38.3% 3 100% - - - NULL GPR112 139378 genome.wustl.edu 37 X 135430303 135430303 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153834.3 +1 reviewed p.V1480F 0.000 817 0% 521 40.9% 0 - possibly_damaging(0.879) tolerated(0.07) deleterious(0.661) NULL GPR112 139378 genome.wustl.edu 37 X 135431839 135431839 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153834.3 +1 reviewed p.L1992I 0.001 577 0% 298 29.5% 0 - benign(0.006) tolerated(0.45) neutral(0.012) NULL GPR112 139378 genome.wustl.edu 37 X 135477570 135477570 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153834.3 +1 reviewed p.S2701L 0.001 144 0% 54 27.8% 0 - possibly_damaging(0.452) tolerated(0.06) deleterious(0.471) HMMPfam_GPS,HMMSmart_GPS GPR112 139378 genome.wustl.edu 37 X 135482223 135482223 + Silent SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153834.3 +1 reviewed p.V2841 1.000 260 0% 175 26.3% 0 - - - - HMMPfam_7tm_2 GPR112 139378 genome.wustl.edu 37 X 135498649 135498649 + Nonstop_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_153834.3 +1 reviewed p.*3081L 0.890 207 0% 150 36% 0 - - - - NULL BRS3 680 genome.wustl.edu 37 X 135572532 135572532 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001727.1 +1 validated p.F225L 1.000 175 0% 139 33.1% 0 - benign(0.036) tolerated(0.21) neutral(0.046) HMMPfam_7tm_1,superfamily_SSF81321 F9 2158 genome.wustl.edu 37 X 138643737 138643737 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000133.3 +1 reviewed p.R298Q 0.000 397 0% 212 27.4% 0 - benign(0.062) tolerated(0.16) neutral(0.064) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases MCF2 4168 genome.wustl.edu 37 X 138664610 138664610 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000370573 -1 known p.G859C 0.024 165 0% 119 11.8% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL MCF2 4168 genome.wustl.edu 37 X 138686869 138686869 + Nonsense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001099855.1 -1 reviewed p.E632* 1.000 264 0% 159 28.9% 0 - - - - HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain ATP11C 286410 genome.wustl.edu 37 X 138864759 138864759 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000422228 -1 known p.S188L 1.000 350 0% 166 42.2% 1 100% - - - superfamily_Metal cation-transporting ATPase ATP-binding domain N SOX3 6658 genome.wustl.edu 37 X 139586640 139586640 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005634.2 -1 reviewed p.R196C 1.000 73 0% 52 21.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box MAGEC3 139081 genome.wustl.edu 37 X 140985510 140985510 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_138702.1 +1 reviewed p.L608F 0.001 377 0.3% 219 35.2% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL LOC392555 392555 genome.wustl.edu 37 X 141261200 141261200 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343852.1 -1 model p.L243I 0.000 246 0% 150 45.3% 0 - - - - HMMPfam_MAGE LOC392555 392555 genome.wustl.edu 37 X 141261541 141261541 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343852.1 -1 model p.L156I 0.000 57 0% 34 11.8% 0 - - - - NULL LOC392555 392555 genome.wustl.edu 37 X 141261621 141261621 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b XM_002343852.1 -1 model p.S129Y 0.002 56 0% 36 44.4% 0 - - - - NULL MAGEC2 51438 genome.wustl.edu 37 X 141291248 141291248 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016249.3 -1 reviewed p.D176Y 0.000 765 0.1% 514 31.7% 0 - probably_damaging(0.992) tolerated(0.1) deleterious(0.734) HMMPfam_MAGE MAGEC2 51438 genome.wustl.edu 37 X 141291731 141291731 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_016249.3 -1 reviewed p.D15N 0.000 390 0% 299 29.4% 0 - benign(0.355) deleterious(0) deleterious(0.557) NULL SLITRK4 139065 genome.wustl.edu 37 X 142716775 142716775 + Missense_Mutation SNP T T A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173078.3 -1 reviewed p.Q717L 1.000 252 0% 132 29.5% 0 - benign(0.003) tolerated(0.41) neutral(0.015) NULL SLITRK2 84631 genome.wustl.edu 37 X 144904091 144904091 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001144003.2 +1 reviewed p.G50* 1.000 111 0% 49 42.9% 0 - - - - HMMSmart_SM00013,superfamily_L domain-like MIR507 574512 genome.wustl.edu 37 X 146312548 146312548 + RNA SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000385234 -1 known NULL 0.000 644 0% 551 39.7% 0 - - - - - AFF2 2334 genome.wustl.edu 37 X 147985789 147985789 + Splice_Site SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002025.3 +1 reviewed e9+1 1.000 234 0% 143 37.1% 0 - - - - - MTM1 4534 genome.wustl.edu 37 X 149767061 149767061 + Nonsense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000252.2 +1 reviewed p.E48* 1.000 154 0% 58 32.8% 0 - - - - HMMPfam_GRAM,HMMSmart_GRAM,superfamily_SSF50729 HMGB3 3149 genome.wustl.edu 37 X 150154136 150154136 + Missense_Mutation SNP A A G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005342.2 +1 validated p.T22A 1.000 303 0% 176 41.5% 28 78.5% benign(0.337) deleterious(0.04) neutral(0.455) HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box PASD1 139135 genome.wustl.edu 37 X 150791503 150791503 + Silent SNP A A T rs5924977 byCluster;byFrequency;by1000genomes TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_173493.2 +1 reviewed p.G171 0.006 148 0% 119 56.3% 0 - - - - NULL CNGA2 1260 genome.wustl.edu 37 X 150911752 150911752 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_005140.1 +1 reviewed p.F259L 1.000 346 0% 225 44.4% 0 - benign(0.005) tolerated(0.06) neutral(0.323) HMMPfam_Ion_trans,superfamily_SSF81324 MAGEA4 4103 genome.wustl.edu 37 X 151092533 151092533 + Missense_Mutation SNP A A C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001011548.1 +1 reviewed p.K133Q 0.012 50 0% 59 39% 0 - benign(0.333) deleterious(0.01) deleterious(0.510) HMMPfam_MAGE GABRQ 55879 genome.wustl.edu 37 X 151806758 151806758 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_018558.2 +1 reviewed p.F34 0.000 80 0% 33 33.3% 0 - - - - NULL CETN2 1069 genome.wustl.edu 37 X 151997789 151997789 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004344.1 -1 reviewed p.K65N 1.000 110 0% 118 43.2% 12 100% benign(0.009) tolerated(0.07) neutral(0.320) superfamily_SSF47473 CETN2 1069 genome.wustl.edu 37 X 151998255 151998255 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_004344.1 -1 reviewed p.R18I 1.000 176 0% 149 33.6% 41 73.1% benign(0.072) deleterious(0.01) neutral(0.411) superfamily_SSF47473 ZNF275 10838 genome.wustl.edu 37 X 152612785 152612785 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001080485.2 +1 validated p.C214 0.008 323 0% 296 32.8% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers BGN 633 genome.wustl.edu 37 X 152772036 152772036 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001711.4 +1 reviewed p.F205 0.405 36 0% 50 32% 164 6% - - - superfamily_SSF52058 L1CAM 3897 genome.wustl.edu 37 X 153129907 153129907 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000425.3 -1 reviewed p.S1064 0.000 50 0% 46 26.1% 1 0% - - - superfamily_Fibronectin type III FLNA 2316 genome.wustl.edu 37 X 153580957 153580957 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001110556.1 -1 reviewed p.V2156I 0.961 10 0% 14 28.6% 251 36.2% benign(0) tolerated(0.5) neutral(0.010) HMMSmart_SM00557,superfamily_E set domains GAB3 139716 genome.wustl.edu 37 X 153924212 153924212 + Missense_Mutation SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001081573.1 -1 reviewed p.E504K 1.000 118 0% 64 12.5% 0 - possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) NULL GAB3 139716 genome.wustl.edu 37 X 153925442 153925442 + Silent SNP T T C novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001081573.1 -1 reviewed p.E464 0.322 115 0% 103 47.6% 0 - - - - NULL DKC1 1736 genome.wustl.edu 37 X 153994556 153994556 + Missense_Mutation SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_001363.3 +1 reviewed p.R110Q 1.000 107 0% 93 36.6% 28 92.8% possibly_damaging(0.853) deleterious(0) deleterious(0.773) HMMPfam_TruB_N,superfamily_PsdUridine_synth_cat_dom MPP1 4354 genome.wustl.edu 37 X 154018253 154018253 + Missense_Mutation SNP C C A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_002436.3 -1 reviewed p.Q152H 1.000 112 0% 104 13.5% 6 0% probably_damaging(0.996) tolerated(0.3) deleterious(0.490) superfamily_SH3-domain,HMMSmart_SM00228,superfamily_PDZ domain-like F8 2157 genome.wustl.edu 37 X 154158433 154158433 + Missense_Mutation SNP T T G novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000132.3 -1 reviewed p.K1211T 0.000 297 0% 211 33.6% 0 - possibly_damaging(0.905) deleterious(0) deleterious(0.804) NULL F8 2157 genome.wustl.edu 37 X 154185319 154185319 + Silent SNP G G A novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_000132.3 -1 reviewed p.F555 0.759 699 0% 448 25.2% 0 - - - - superfamily_Cupredoxins VBP1 7411 genome.wustl.edu 37 X 154464563 154464563 + Missense_Mutation SNP G G T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b NM_003372.5 +1 reviewed p.K146N 1.000 328 0% 156 46.8% 13 100% benign(0.04) tolerated(0.19) neutral(0.052) HMMPfam_Prefoldin,superfamily_Prefoldin IL9R 3581 genome.wustl.edu 37 X 155231145 155231145 + Silent SNP C C T novel TCGA-AX-A05Z-01A-11W-A027-09 TCGA-AX-A05Z-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 942ba171-b570-4d74-85b2-f03309815165 c28a7766-b3c3-446b-aea2-e4bc82e8040b ENST00000369423 +1 known p.F39 0.001 288 0% 175 38.3% 0 - - - - NULL