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 UBE2J2 118424 genome.wustl.edu 37 1 1190694 1190694 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_194315.1 -1 reviewed p.N239 1.000 17 0% 24 41.7% 40 47.5% - - - NULL PRKCZ 5590 genome.wustl.edu 37 1 2077531 2077531 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002744.4 +1 reviewed p.S206 0.001 47 0% 66 13.6% 8 50% - - - NULL RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e CAMTA1 23261 genome.wustl.edu 37 1 7811356 7811356 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015215.1 +1 validated p.A1596V 1.000 371 0% 335 11.3% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_P-loop containing nucleoside triphosphate hydrolases FBXO6 26270 genome.wustl.edu 37 1 11733741 11733741 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018438.5 +1 reviewed p.T239A 1.000 21 0% 33 36.4% 15 13.3% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_FBA,superfamily_Galactose-binding domain-like SPATA21 374955 genome.wustl.edu 37 1 16736199 16736199 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_198546.1 -1 provisional p.M162V 0.004 54 0% 31 12.9% 0 - benign(0) tolerated(0.25) neutral(0.037) NULL MST1P9 11223 genome.wustl.edu 37 1 17085446 17085446 + RNA SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NR_002729.2 -1 validated NULL 0.972 121 0% 118 16.1% 0 - - - - - UBR4 23352 genome.wustl.edu 37 1 19478913 19478913 + Missense_Mutation SNP T T G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020765.2 -1 validated p.Q2297P 1.000 280 0% 302 41.4% 4 0% probably_damaging(0.99) tolerated(0.14) deleterious(0.691) superfamily_ARM repeat UBR4 23352 genome.wustl.edu 37 1 19499757 19499757 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020765.2 -1 validated p.S1070L 0.985 325 0% 435 37.9% 0 - benign(0.014) deleterious(0.04) neutral(0.349) NULL MUL1 79594 genome.wustl.edu 37 1 20827226 20827226 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_024544.2 -1 validated p.C339Y 1.000 62 0% 67 10.4% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RING,superfamily_SSF57850 KIF17 57576 genome.wustl.edu 37 1 21030945 21030945 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020816.2 -1 validated p.L373P 0.993 28 0% 23 30.4% 0 - probably_damaging(0.965) tolerated(0.19) neutral(0.456) NULL KIF17 57576 genome.wustl.edu 37 1 21040033 21040033 + Nonsense_Mutation SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020816.2 -1 validated p.K132* 1.000 14 0% 24 20.8% 0 - - - - HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 LDLRAD2 401944 genome.wustl.edu 37 1 22141020 22141020 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001013693.2 +1 validated p.A72V 0.992 6 0.000 11 0.455 1 0% possibly_damaging(0.677) tolerated(0.08) deleterious(0.541) superfamily_CUB ARID1A 8289 genome.wustl.edu 37 1 27100182 27100184 + In_Frame_Del DEL GCA GCA - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006015.4 +1 reviewed p.Q1330in_frame_del 0.986:0.981:0.931 - - - - - - - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27100207 27100207 + Nonsense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006015.4 +1 reviewed p.R1335* 0.945 218 0% 202 40.6% 9 11.1% - - - NULL YTHDF2 51441 genome.wustl.edu 37 1 29070217 29070217 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_016258.2 +1 reviewed p.Y479H 1.000 84 0% 69 29% 21 28.5% possibly_damaging(0.926) deleterious(0.05) deleterious(0.720) HMMPfam_YTH SPOCD1 90853 genome.wustl.edu 37 1 32280393 32280393 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_144569.4 -1 provisional p.S181N 0.021 116 0% 89 12.4% 0 - benign(0.202) - - NULL CLSPN 63967 genome.wustl.edu 37 1 36219380 36219380 + Frame_Shift_Del DEL A A - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_022111.2 -1 reviewed p.K580fs 0.964 - - - - - - - - - NULL STK40 83931 genome.wustl.edu 37 1 36809485 36809485 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032017.1 -1 provisional p.A327V 1.000 17 0% 22 22.7% 4 0% benign(0) tolerated(0.52) neutral(0.009) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ZC3H12A 80149 genome.wustl.edu 37 1 37948808 37948808 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_025079.2 +1 validated p.A466S 0.000 33 0% 17 23.5% 4 0% benign(0) tolerated(0.94) - NULL GJA9 81025 genome.wustl.edu 37 1 39340418 39340419 + Frame_Shift_Del DEL TG TG - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_030772.3 -1 provisional p.T451fs 0.000:0.002 - - - - - - - - - NULL MACF1 23499 genome.wustl.edu 37 1 39776088 39776088 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012090.3 +1 reviewed p.S1035P 1.000 112 0% 139 36.7% 0 - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39927672 39927672 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_033044.2 +1 reviewed p.Y5657C 1.000 252 0% 224 10.7% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NFYC 4802 genome.wustl.edu 37 1 41236498 41236498 + Missense_Mutation SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000397229 +1 known p.L378Q 1.000 66 0% 80 37.5% 29 20.6% - - - NULL SCMH1 22955 genome.wustl.edu 37 1 41514553 41514553 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001031694.2 -1 validated p.Y362C 1.000 182 0% 120 22.5% 5 60% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SZT2 23334 genome.wustl.edu 37 1 43907481 43907481 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015284.2 +1 predicted p.E1679 1.000 106 0% 79 45.6% 2 50% - - - NULL PTCH2 8643 genome.wustl.edu 37 1 45292045 45292045 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003738.4 -1 reviewed p.A997 0.457 24 0% 30 40% 1 0% - - - HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain MMACHC 25974 genome.wustl.edu 37 1 45974628 45974628 + Missense_Mutation SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015506.2 +1 reviewed p.N197I 1.000 128 0% 149 33.6% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL POMGNT1 55624 genome.wustl.edu 37 1 46657982 46657982 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_017739.3 -1 reviewed p.K471E 1.000 134 0.7% 103 16.5% 28 17.8% possibly_damaging(0.611) tolerated(0.14) neutral(0.461) HMMPfam_GNT-I,superfamily_Nucleotide-diphospho-sugar transferases CYP4X1 260293 genome.wustl.edu 37 1 47505132 47505132 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_178033.1 +1 reviewed p.L334P 0.206 107 0.9% 200 39.5% 4 100% possibly_damaging(0.924) tolerated(0.13) deleterious(0.625) HMMPfam_p450,superfamily_Cytochrome P450 RAB3B 5865 genome.wustl.edu 37 1 52442682 52442682 + Silent SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002867.3 -1 validated p.T36 0.987 146 0% 154 42.9% 0 - - - - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 CPT2 1376 genome.wustl.edu 37 1 53676198 53676198 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000098.2 +1 reviewed p.P284 0.053 178 0% 161 25.5% 9 22.2% - - - HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases MRPL37 51253 genome.wustl.edu 37 1 54683893 54683893 + Missense_Mutation SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_016491.3 +1 reviewed p.L415I 1.000 208 0% 168 33.9% 42 45.2% possibly_damaging(0.905) tolerated(0.14) deleterious(0.609) NULL PCSK9 255738 genome.wustl.edu 37 1 55512215 55512215 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_174936.2 +1 reviewed p.V140A 0.909 54 0% 55 27.3% 0 - possibly_damaging(0.792) deleterious(0) deleterious(0.742) superfamily_Subtilisin-like,superfamily_Protease propeptides/inhibitors,HMMPfam_Inhibitor_I9 USP24 23358 genome.wustl.edu 37 1 55545262 55545262 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015306.2 -1 validated p.E2223 1.000 246 0% 387 25.6% 6 0% - - - NULL WLS 79971 genome.wustl.edu 37 1 68611627 68611627 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001002292.2 -1 validated p.F399L 0.827 154 0% 213 23.9% 35 22.8% possibly_damaging(0.466) tolerated(0.13) neutral(0.405) NULL ZRANB2 9406 genome.wustl.edu 37 1 71535005 71535005 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_203350.1 -1 validated p.R242C 1.000 177 0% 278 34.9% 6 0% unknown(0) deleterious(0.05) - NULL CLCA1 1179 genome.wustl.edu 37 1 86951119 86951119 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001285.3 +1 reviewed p.R277C 0.000 480 0% 559 36% 0 - possibly_damaging(0.89) deleterious(0.03) deleterious(0.714) NULL GBP3 2635 genome.wustl.edu 37 1 89479900 89479900 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018284.2 -1 reviewed p.E164G 0.019 260 0% 214 11.7% 8 0% possibly_damaging(0.789) tolerated(0.13) deleterious(0.548) superfamily_SSF52540 S1PR1 1901 genome.wustl.edu 37 1 101704737 101704737 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001400.4 +1 reviewed p.V66A 1.000 208 1% 232 15.9% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 COL11A1 1301 genome.wustl.edu 37 1 103453237 103453237 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_080629.2 -1 reviewed p.R830 0.997 87 1.1% 197 13.7% 0 - unknown(0) - - HMMPfam_Collagen AKNAD1 254268 genome.wustl.edu 37 1 109377557 109377557 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152763.3 -1 validated p.P553L 0.000 39 0% 39 43.6% 0 - benign(0) deleterious(0.02) neutral(0.383) NULL CLCC1 23155 genome.wustl.edu 37 1 109479939 109479939 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001048210.1 -1 validated p.R381 0.000 329 0% 213 28.2% 11 63.6% - - - HMMPfam_MCLC ATXN7L2 127002 genome.wustl.edu 37 1 110032747 110032747 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_153340.4 +1 validated p.Q411 1.000 58 0% 45 51.1% 4 25% - - - NULL KCNA3 3738 genome.wustl.edu 37 1 111216092 111216092 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002232.3 -1 reviewed p.Y447C 0.996 52 0% 97 11.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 CHI3L2 1117 genome.wustl.edu 37 1 111784948 111784948 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004000.2 +1 validated p.L379I 0.989 397 0% 437 38.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Glyco_hydro_cat AP4B1 10717 genome.wustl.edu 37 1 114438451 114438451 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006594.2 -1 validated p.T574A 0.458 111 0% 111 46.8% 11 63.6% benign(0) tolerated(0.68) neutral(0.002) NULL HIPK1 204851 genome.wustl.edu 37 1 114514596 114514596 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152696.3 +1 reviewed p.C1055Y 1.000 111 0% 102 23.5% 0 - possibly_damaging(0.838) - - NULL SYCP1 6847 genome.wustl.edu 37 1 115527450 115527450 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003176.2 +1 validated p.F888 0.992 363 0.3% 611 14.6% 0 - - - - NULL ATP1A1 476 genome.wustl.edu 37 1 116929941 116929941 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000701.7 +1 reviewed p.L72P 1.000 138 0% 125 32% 23 30.4% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M TRIM45 80263 genome.wustl.edu 37 1 117658309 117658309 + Missense_Mutation SNP G G C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_025188.3 -1 reviewed p.P452R 0.436 128 0% 196 30.1% 11 36.3% benign(0.02) tolerated(0.67) neutral(0.004) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin TBX15 6913 genome.wustl.edu 37 1 119427641 119427641 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152380.2 -1 reviewed p.A402V 1.000 60 0% 59 15.3% 0 - probably_damaging(0.959) deleterious(0.03) deleterious(0.767) NULL CA14 23632 genome.wustl.edu 37 1 150236067 150236067 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012113.1 +1 reviewed p.S284L 0.001 374 0% 316 30.1% 5 20% benign(0) tolerated(0.49) neutral(0.011) NULL HRNR 388697 genome.wustl.edu 37 1 152193365 152193365 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001009931.1 -1 validated p.H247R 0.000 122 0% 194 25.8% 0 - unknown(0) - - NULL FLG 2312 genome.wustl.edu 37 1 152276603 152276603 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002016.1 -1 reviewed p.G3587C 0.000 398 0% 620 15% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL FLG 2312 genome.wustl.edu 37 1 152277559 152277559 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002016.1 -1 reviewed p.A3268V 0.022 320 0% 567 28.6% 0 - unknown(0) tolerated(0.17) - NULL IL6R 3570 genome.wustl.edu 37 1 154437786 154437786 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000565.2 +1 reviewed p.N446S 0.013 105 0% 91 26.4% 0 - benign(0) tolerated(1) - NULL FLAD1 80308 genome.wustl.edu 37 1 154965051 154965051 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000405236 +1 known p.I310M 0.000 99 0% 69 14.5% 1 0% unknown(0) - - NULL ADAM15 8751 genome.wustl.edu 37 1 155028279 155028279 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_207197.1 +1 reviewed p.V209A 0.903 76 0% 145 29.7% 55 32.7% benign(0.042) tolerated(0.09) neutral(0.299) "superfamily_Metalloproteases (""zincins"") catalytic domain" THBS3 7059 genome.wustl.edu 37 1 155168318 155168318 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_007112.3 -1 reviewed p.N652 0.890 90 0% 101 31.7% 2 50% - - - HMMPfam_TSP_3,superfamily_TSP type-3 repeat FAM189B 10712 genome.wustl.edu 37 1 155221366 155221366 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006589.2 -1 validated p.S274N 1.000 68 0% 80 22.5% 2 50% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) NULL CLK2 1196 genome.wustl.edu 37 1 155233799 155233799 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003993.2 -1 reviewed p.D419G 1.000 124 0% 131 34.4% 32 21.8% probably_damaging(0.963) deleterious(0.01) deleterious(0.811) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ASH1L 55870 genome.wustl.edu 37 1 155327393 155327393 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018489.2 -1 reviewed p.H2315Y 1.000 277 0% 318 29.6% 4 0% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL SYT11 23208 genome.wustl.edu 37 1 155838146 155838146 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152280.4 +1 reviewed p.G142V 0.998 482 0% 484 17.4% 1 0% benign(0.167) tolerated(0.09) neutral(0.311) NULL SSR2 6746 genome.wustl.edu 37 1 155988153 155988153 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003145.3 -1 reviewed p.A54 0.777 134 0% 122 31.1% 222 31.9% - - - HMMPfam_TRAP_beta SEMA4A 64218 genome.wustl.edu 37 1 156146519 156146519 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_022367.2 +1 provisional p.A673T 0.022 214 0% 177 23.7% 19 21% benign(0.043) tolerated(0.34) neutral(0.025) NULL PRCC 5546 genome.wustl.edu 37 1 156756456 156756456 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005973.4 +1 reviewed p.T191 0.999 260 0% 288 29.5% 29 17.2% - - - NULL INSRR 3645 genome.wustl.edu 37 1 156821913 156821913 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014215.1 -1 validated p.G236 1.000 24 0% 24 25% 0 - - - - HMMPfam_Furin-like,HMMSmart_FU,superfamily_Grow_fac_recept ARHGEF11 9826 genome.wustl.edu 37 1 156946813 156946813 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_198236.1 -1 reviewed p.L182I 1.000 291 0% 344 30.2% 5 0% probably_damaging(0.998) deleterious(0.05) deleterious(0.820) NULL FCRL1 115350 genome.wustl.edu 37 1 157771788 157771788 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_052938.4 -1 reviewed p.E268G 0.351 169 0% 327 29.7% 0 - benign(0.001) tolerated(0.08) neutral(0.300) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin DARC 2532 genome.wustl.edu 37 1 159175620 159175620 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001122951.1 +1 reviewed p.L133M 0.007 100 0% 68 23.5% 13 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL SLAMF8 56833 genome.wustl.edu 37 1 159803056 159803056 + Silent SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020125.2 +1 reviewed p.P226 0.944 455 0% 385 22.9% 3 0% - - - NULL VANGL2 57216 genome.wustl.edu 37 1 160390292 160390292 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020335.1 +1 validated p.L298M 1.000 341 0.3% 356 19.4% 3 0% possibly_damaging(0.637) tolerated(0.06) deleterious(0.545) HMMPfam_Strabismus USP21 27005 genome.wustl.edu 37 1 161133751 161133751 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001014443.2 +1 reviewed p.L400M 1.000 154 0% 209 30.1% 10 20% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_UCH,superfamily_Cysteine proteinases UAP1 6675 genome.wustl.edu 37 1 162546566 162546566 + Splice_Site SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003115.4 +1 validated e2-1 1.000 184 0% 302 27.8% 0 - - - - - DDR2 4921 genome.wustl.edu 37 1 162725488 162725488 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001014796.1 +1 reviewed p.Q200 1.000 174 0% 348 14.4% 0 - - - - NULL LRRC52 440699 genome.wustl.edu 37 1 165532976 165532976 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001005214.3 +1 validated p.D286G 0.958 130 0% 224 31.7% 0 - benign(0.418) deleterious(0.01) deleterious(0.541) NULL MAEL 84944 genome.wustl.edu 37 1 166990952 166990952 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032858.1 +1 validated p.R389W 1.000 155 0% 256 18.4% 2 0% possibly_damaging(0.491) deleterious(0) deleterious(0.608) NULL DPT 1805 genome.wustl.edu 37 1 168698377 168698377 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001937.3 -1 reviewed p.L12 0.788 47 0% 80 31.2% 5 0% - - - NULL FMO1 2326 genome.wustl.edu 37 1 171251441 171251441 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002021.1 +1 reviewed p.T384 0.028 124 0% 225 15.1% 0 - - - - HMMPfam_FMO-like CENPL 91687 genome.wustl.edu 37 1 173776484 173776484 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001127181.2 -1 validated p.D114G 1.000 197 0% 310 17.4% 3 33.3% possibly_damaging(0.951) deleterious(0.03) deleterious(0.758) NULL DARS2 55157 genome.wustl.edu 37 1 173819555 173819555 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018122.4 +1 reviewed p.R428G 0.002 60 0% 122 21.3% 5 40% benign(0.205) deleterious(0.04) neutral(0.369) HMMPfam_GAD,HMMPfam_tRNA-synt_2,superfamily_SSF55261,superfamily_SSF55681 RC3H1 149041 genome.wustl.edu 37 1 173930222 173930222 + Missense_Mutation SNP G G A rs140858270 by1000genomes TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_172071.2 -1 validated p.P788L 0.999 159 0% 251 29.1% 0 - benign(0.014) tolerated(0.65) neutral(0.004) NULL TNN 63923 genome.wustl.edu 37 1 175066638 175066638 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_022093.1 +1 validated p.I558 0.591 99 0% 133 21.1% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNN 63923 genome.wustl.edu 37 1 175086172 175086172 + Silent SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_022093.1 +1 validated p.V739 1.000 150 0% 245 13.5% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III AXDND1 126859 genome.wustl.edu 37 1 179347879 179347879 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_144696.4 +1 validated p.I161T 0.816 212 0% 370 25.9% 0 - unknown(0) tolerated(0.47) - NULL GLUL 2752 genome.wustl.edu 37 1 182354903 182354903 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001033044.2 -1 reviewed p.P199S 1.000 401 0% 695 26.8% 63 12.6% possibly_damaging(0.439) deleterious(0) deleterious(0.588) HMMPfam_Gln-synt_C,superfamily_Glutamine synthetase/guanido kinase TEDDM1 127670 genome.wustl.edu 37 1 182369465 182369465 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_172000.3 -1 validated p.M52I 0.177 169 0% 288 29.9% 0 - benign(0.009) tolerated(0.2) neutral(0.050) NULL RNASEL 6041 genome.wustl.edu 37 1 182555290 182555290 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_021133.2 -1 reviewed p.V218M 0.012 166 0% 305 26.9% 0 - benign(0.13) tolerated(0.05) neutral(0.356) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat LAMC1 3915 genome.wustl.edu 37 1 183106840 183106840 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002293.3 +1 reviewed p.F1451L 1.000 188 0% 229 11.8% 19 0% benign(0) tolerated(0.26) neutral(0.034) NULL SMG7 9887 genome.wustl.edu 37 1 183515404 183515404 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_173156.2 +1 validated p.R892C 1.000 168 0% 297 23.2% 9 11.1% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL HMCN1 83872 genome.wustl.edu 37 1 186057776 186057776 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_031935.2 +1 reviewed p.G3206C 1.000 67 0% 183 30.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186081999 186081999 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_031935.2 +1 reviewed p.A3682V 1.000 167 0% 284 14.8% 0 - probably_damaging(1) tolerated(1) deleterious(0.500) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186097264 186097265 + Frame_Shift_Del DEL AC AC - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_031935.2 +1 reviewed p.T4251fs 1.000:0.995 - - - - - - - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin B3GALT2 8707 genome.wustl.edu 37 1 193149573 193149573 + Missense_Mutation SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003783.3 -1 reviewed p.C374S 1.000 112 0% 173 31.2% 2 100% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL B3GALT2 8707 genome.wustl.edu 37 1 193149687 193149687 + Missense_Mutation SNP G G C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003783.3 -1 reviewed p.R336G 1.000 87 0% 133 26.3% 1 100% probably_damaging(0.995) tolerated(0.32) deleterious(0.482) HMMPfam_Galactosyl_T CFHR2 3080 genome.wustl.edu 37 1 196918742 196918742 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005666.2 +1 validated p.C72 0.000 169 0% 343 16.6% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CRB1 23418 genome.wustl.edu 37 1 197446879 197446879 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_201253.1 +1 reviewed p.V1364A 0.000 107 0% 203 34.5% 0 - unknown(0) - - NULL CACNA1S 779 genome.wustl.edu 37 1 201079342 201079342 + Missense_Mutation SNP C C G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000069.2 -1 reviewed p.V70L 0.940 59 0% 112 26.8% 0 - benign(0.005) tolerated(0.76) neutral(0.001) superfamily_SSF81324 KDM5B 10765 genome.wustl.edu 37 1 202704619 202704619 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006618.3 -1 validated p.K1121E 0.001 174 0% 252 25% 5 20% benign(0.036) tolerated(1) neutral(0.002) NULL CHIT1 1118 genome.wustl.edu 37 1 203192276 203192276 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003465.2 -1 reviewed p.D198N 1.000 89 0% 156 17.9% 2 0% benign(0.002) tolerated(0.44) neutral(0.013) HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases LAX1 54900 genome.wustl.edu 37 1 203740523 203740523 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_017773.3 +1 validated p.V76 0.000 732 0% 784 12.1% 1 0% - - - NULL LRRN2 10446 genome.wustl.edu 37 1 204588213 204588213 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006338.2 -1 reviewed p.K303R 1.000 83 0% 79 11.4% 0 - benign(0.004) tolerated(1) - superfamily_L domain-like SLC45A3 85414 genome.wustl.edu 37 1 205632052 205632052 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_033102.2 -1 validated p.T289 0.796 31 0% 46 21.7% 1 100% - - - superfamily_MFS general substrate transporter PM20D1 148811 genome.wustl.edu 37 1 205814641 205814641 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152491.4 -1 validated p.V101M 0.745 106 0% 109 22.9% 1 0% probably_damaging(0.978) deleterious(0.01) deleterious(0.826) superfamily_Zn-dependent exopeptidases YOD1 55432 genome.wustl.edu 37 1 207222393 207222393 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018566.3 -1 validated p.T340I 1.000 172 0% 167 30.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_ZINC_FINGER_C2H2_1 CR1L 1379 genome.wustl.edu 37 1 207874962 207874962 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_175710.1 +1 validated p.G443W 0.579 122 0% 190 33.2% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain PLXNA2 5362 genome.wustl.edu 37 1 208204984 208204984 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_025179.3 -1 reviewed p.R1726G 1.000 44 0% 47 36.2% 4 25% possibly_damaging(0.586) tolerated(0.07) deleterious(0.521) superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl KCNH1 3756 genome.wustl.edu 37 1 210856627 210856627 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_172362.2 -1 reviewed p.S989N 1.000 497 0% 383 19.1% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL LPGAT1 9926 genome.wustl.edu 37 1 211961026 211961026 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014873.2 -1 validated p.Y134C 1.000 90 0% 134 17.2% 2 50% possibly_damaging(0.733) tolerated(0.14) deleterious(0.518) HMMSmart_SM00563,superfamily_Glycerol-3-phosphate (1)-acyltransferase VASH2 79805 genome.wustl.edu 37 1 213145937 213145937 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_024749.3 +1 validated p.G127 0.987 193 0% 224 26.8% 0 - - - - NULL USH2A 7399 genome.wustl.edu 37 1 215848417 215848417 + Missense_Mutation SNP T T G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_206933.2 -1 reviewed p.Q4279P 0.006 295 0.3% 439 30.8% 0 - benign(0) tolerated(0.39) neutral(0.016) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MARK1 4139 genome.wustl.edu 37 1 220826574 220826574 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018650.3 +1 validated p.R623H 0.999 82 0% 172 10.5% 7 0% possibly_damaging(0.511) deleterious(0.01) deleterious(0.577) NULL WDR26 80232 genome.wustl.edu 37 1 224612238 224612238 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_025160.6 -1 reviewed p.R102H 1.000 192 0% 278 23.4% 10 10% probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL PARP1 142 genome.wustl.edu 37 1 226589965 226589965 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001618.3 -1 reviewed p.W79L 1.000 86 0% 138 23.9% 3 33.3% possibly_damaging(0.493) tolerated(0.1) neutral(0.451) HMMPfam_zf-PARP,superfamily_Glucocorticoid receptor-like (DNA-binding domain) OBSCN 84033 genome.wustl.edu 37 1 228412337 228412337 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001098623.1 +1 reviewed p.T944M 0.000 47 0% 68 20.6% 0 - possibly_damaging(0.909) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin RHOU 58480 genome.wustl.edu 37 1 228879327 228879327 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_021205.4 +1 reviewed p.L206S 1.000 171 0% 252 15.1% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases EGLN1 54583 genome.wustl.edu 37 1 231502203 231502203 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_022051.2 -1 reviewed p.V412G 1.000 81 0% 183 17.5% 11 45.4% possibly_damaging(0.612) deleterious(0) deleterious(0.656) NULL KIAA1804 84451 genome.wustl.edu 37 1 233482228 233482228 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032435.2 +1 validated p.N282 0.960 230 0% 406 24.9% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SLC35F3 148641 genome.wustl.edu 37 1 234444919 234444919 + Silent SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_173508.2 +1 provisional p.G227 1.000 75 0% 133 27.1% 0 - - - - superfamily_SSF103481 TARBP1 6894 genome.wustl.edu 37 1 234582722 234582722 + Splice_Site SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005646.3 -1 reviewed e12-1 1.000 188 0% 346 25.4% 1 0% - - - - NID1 4811 genome.wustl.edu 37 1 236145057 236145057 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002508.2 -1 reviewed p.A1027 0.001 210 0% 227 12.3% 3 0% - - - HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain NID1 4811 genome.wustl.edu 37 1 236175219 236175219 + Splice_Site SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002508.2 -1 reviewed e12+2 1.000 87 0% 131 14.5% 0 - - - - - AHCTF1 25909 genome.wustl.edu 37 1 247013095 247013095 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015446.4 -1 validated p.E2071 0.001 203 0% 315 15.6% 14 14.2% - - - NULL ZNF672 79894 genome.wustl.edu 37 1 249142680 249142680 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_024836.1 +1 provisional p.C403R 0.979 11 0% 21 28.6% 11 36.3% possibly_damaging(0.805) deleterious(0.03) deleterious(0.667) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MYT1L 23040 genome.wustl.edu 37 2 1983540 1983540 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015025.2 -1 validated p.D4N 1.000 34 0% 28 21.4% 0 - unknown(0) tolerated(0.21) - NULL ASAP2 8853 genome.wustl.edu 37 2 9496329 9496329 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003887.2 +1 reviewed p.N394 1.000 152 0% 141 23.4% 0 - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SMC6 79677 genome.wustl.edu 37 2 17889964 17889964 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001142286.1 -1 validated p.A596V 1.000 104 0% 210 10% 1 0% benign(0.221) deleterious(0.03) neutral(0.387) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases DTNB 1838 genome.wustl.edu 37 2 25611226 25611226 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_021907.3 -1 reviewed p.Q527R 1.000 35 0% 24 41.7% 34 20.5% benign(0.011) tolerated(0.09) neutral(0.297) NULL CAD 790 genome.wustl.edu 37 2 27447737 27447737 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004341.3 +1 reviewed p.V460A 1.000 144 0% 171 26.9% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp-like C2orf16 84226 genome.wustl.edu 37 2 27804091 27804091 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032266.3 +1 validated p.R1551H 0.000 329 0% 243 41.2% 0 - unknown(0) deleterious(0.02) - NULL MEMO1 51072 genome.wustl.edu 37 2 32117149 32117149 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000422936 -1 known p.Q46R 1.000 385 0% 463 36.7% 11 27.2% - - - HMMPfam_Memo EIF2AK2 5610 genome.wustl.edu 37 2 37365692 37365692 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001135651.1 -1 validated p.T185A 0.000 170 0% 148 25.7% 4 50% benign(0.007) tolerated(0.26) neutral(0.034) NULL EPCAM 4072 genome.wustl.edu 37 2 47604213 47604213 + Silent SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002354.2 +1 reviewed p.I184 0.889 90 0% 104 30.8% 238 44.1% - - - NULL STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48808552 48808552 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_172311.1 +1 reviewed p.S260 0.532 126 0% 115 25.2% 2 0% - - - NULL SPTBN1 6711 genome.wustl.edu 37 2 54849514 54849514 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003128.2 +1 reviewed p.I318 1.000 220 0% 201 34.8% 1 0% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat C2orf63 130162 genome.wustl.edu 37 2 55439868 55439868 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152385.2 -1 validated p.Y147C 0.107 55 0% 66 43.9% 5 0% benign(0.013) deleterious(0.02) neutral(0.384) NULL CCDC88A 55704 genome.wustl.edu 37 2 55549775 55549775 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001135597.1 -1 validated p.V1016 0.487 131 0% 221 39.8% 0 - - - - NULL BCL11A 53335 genome.wustl.edu 37 2 60689531 60689531 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_022893.3 -1 reviewed p.C172 1.000 77 0% 69 36.2% 1 0% - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PAPOLG 64895 genome.wustl.edu 37 2 61006790 61006790 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_022894.2 +1 reviewed p.N238S 1.000 257 0% 200 26% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_PAP_central,superfamily_PAP/OAS1 substrate-binding domain XPO1 7514 genome.wustl.edu 37 2 61760991 61760991 + Silent SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003400.3 -1 reviewed p.R14 0.858 59 0% 82 24.4% 2 0% - - - NULL CCT4 10575 genome.wustl.edu 37 2 62099259 62099259 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006430.2 -1 validated p.R483 0.975 119 0% 142 12% 130 6.9% - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase VPS54 51542 genome.wustl.edu 37 2 64141314 64141314 + Splice_Site SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_016516.2 -1 reviewed e16+2 1.000 87 0% 167 16.2% 0 - - - - - DYSF 8291 genome.wustl.edu 37 2 71887769 71887769 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001130987.1 +1 reviewed p.P1664H 1.000 188 0% 129 28.7% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB LOXL3 84695 genome.wustl.edu 37 2 74761527 74761530 + Frame_Shift_Del DEL AGTG AGTG - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 AGTG AGTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032603.2 -1 reviewed p.H618fs 1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_Lysyl_oxidase HK2 3099 genome.wustl.edu 37 2 75116438 75116438 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000189.4 +1 reviewed p.D814 0.915 66 0% 58 13.8% 2 0% - - - HMMPfam_Hexokinase_2,superfamily_SSF53067 SFTPB 6439 genome.wustl.edu 37 2 85890934 85890934 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000542.3 -1 reviewed p.V237M 0.996 9 0.000 6 0.667 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMSmart_SapB,superfamily_Saposin_like TMEM131 23505 genome.wustl.edu 37 2 98429102 98429102 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015348.1 -1 validated p.E576 1.000 129 0% 124 23.4% 1 0% - - - NULL TMEM131 23505 genome.wustl.edu 37 2 98504584 98504584 + Splice_Site SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015348.1 -1 validated e4-1 1.000 125 0% 113 30.1% 0 - - - - - VWA3B 200403 genome.wustl.edu 37 2 98907090 98907092 + In_Frame_Del DEL TTT TTT - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000422503 +1 known p.F1058in_frame_del 0.009:0.001:0.000 - - - - - - - - - NULL REV1 51455 genome.wustl.edu 37 2 100027276 100027278 + In_Frame_Del DEL TCT TCT - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_016316.2 -1 reviewed p.R742in_frame_del 0.997:1.000:0.994 - - - - - - - - - HMMPfam_IMS,superfamily_Lesion bypass DNA polymerase (Y-family) little finger domain,superfamily_DNA/RNA polymerases NPAS2 4862 genome.wustl.edu 37 2 101587484 101587484 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002518.3 +1 reviewed p.E363A 1.000 56 0% 34 23.5% 1 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL LIMS1 3987 genome.wustl.edu 37 2 109271583 109271585 + In_Frame_Del DEL TCC TCC - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000393314 +1 known p.IP18in_frame_delT 0.672:0.689:0.743 - - - - - - - - - NULL SEPT10 151011 genome.wustl.edu 37 2 110332246 110332246 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_144710.2 -1 reviewed p.R171H 1.000 94 0% 113 10.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases CLASP1 23332 genome.wustl.edu 37 2 122165272 122165274 + In_Frame_Del DEL CTC CTC - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015282.2 -1 validated p.R815in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL LCT 3938 genome.wustl.edu 37 2 136581551 136581551 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002299.2 -1 reviewed p.V276A 0.965 54 0% 39 17.9% 0 - possibly_damaging(0.434) deleterious(0) deleterious(0.586) superfamily_Glyco_hydro_cat HNMT 3176 genome.wustl.edu 37 2 138738920 138738920 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001024075.1 +1 reviewed p.R109C 0.000 204 0% 242 26.9% 0 - unknown(0) - - NULL MBD5 55777 genome.wustl.edu 37 2 149220195 149220195 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018328.4 +1 reviewed p.Y53C 1.000 174 0% 303 23.4% 0 - unknown(0) deleterious(0) - HMMPfam_MBD,HMMSmart_SM00391 LYPD6B 130576 genome.wustl.edu 37 2 150071219 150071219 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_177964.3 +1 provisional p.L207M 0.001 266 0% 316 21.5% 0 - possibly_damaging(0.765) deleterious(0.02) deleterious(0.667) NULL BAZ2B 29994 genome.wustl.edu 37 2 160205637 160205637 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_013450.2 -1 validated p.V1673A 0.507 208 0% 377 22.3% 0 - benign(0.132) tolerated(0.2) neutral(0.060) NULL PSMD14 10213 genome.wustl.edu 37 2 162224372 162224372 + Silent SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005805.4 +1 validated p.T66 0.904 37 0% 79 10.1% 17 0% - - - HMMPfam_Mov34,HMMSmart_SM00232,superfamily_JAB1/MPN domain SCN1A 6323 genome.wustl.edu 37 2 166897777 166897777 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006920.4 -1 reviewed p.T782 0.000 93 0% 112 32.1% 0 - - - - superfamily_SSF81324 ATF2 1386 genome.wustl.edu 37 2 175979427 175979427 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001880.2 -1 reviewed p.R206M 1.000 185 0% 255 36.1% 4 50% probably_damaging(0.964) deleterious(0) deleterious(0.851) NULL HOXD10 3236 genome.wustl.edu 37 2 176982075 176982075 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002148.3 +1 reviewed p.G172C 1.000 48 0% 66 16.7% 5 0% benign(0.001) tolerated(0.13) neutral(0.253) NULL HOXD4 3233 genome.wustl.edu 37 2 177017340 177017340 + Missense_Mutation SNP C C G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014621.2 +1 reviewed p.N146K 1.000 42 0% 38 39.5% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Homeodomain_like TTN 7273 genome.wustl.edu 37 2 179422468 179422468 + Nonsense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000356127 -1 known p.G26635* 1.000 372 0% 648 39.8% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179425592 179425592 + Nonsense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000356127 -1 known p.R25853* 0.999 82 0% 117 39.3% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179443654 179443654 + Silent SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_133378.4 -1 reviewed p.P20133Q 0.994 96 0% 155 22.6% 1 0% - - - NULL TTN 7273 genome.wustl.edu 37 2 179444448 179444448 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_133378.4 -1 reviewed p.L19924P 0.870 151 0% 226 22.1% 2 50% - - - NULL TTN 7273 genome.wustl.edu 37 2 179472162 179472162 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000356127 -1 known p.G15183 0.991 450 0% 768 24.5% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179486673 179486673 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000356127 -1 known p.K12424 1.000 71 0% 84 15.5% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179534401 179534401 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000448510 -1 known p.T154A 0.973 443 0.2% 676 37.6% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179553411 179553411 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000356127 -1 known p.R9486 0.000 117 0% 106 31.1% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179612202 179612202 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_133379.3 -1 reviewed p.S4975 0.919 234 0% 356 24.4% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179640246 179640246 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_133379.3 -1 reviewed p.G2115 1.000 118 0% 170 39.4% 0 - - - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179666867 179666867 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_133379.3 -1 reviewed p.K98R 1.000 106 0% 119 13.4% 0 - benign(0.083) - - superfamily_SSF48726 DNAJC10 54431 genome.wustl.edu 37 2 183623899 183623899 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018981.1 +1 provisional p.Q670H 0.992 128 0% 171 31% 44 25% benign(0.002) tolerated(0.09) neutral(0.296) superfamily_Thioredoxin-like ASNSD1 54529 genome.wustl.edu 37 2 190532636 190532636 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_019048.2 +1 validated p.D537 1.000 159 0% 236 41.9% 17 58.8% - - - HMMPfam_Asn_synthase,superfamily_Adenine nucleotide alpha hydrolases-like NAB1 4664 genome.wustl.edu 37 2 191524447 191524447 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005966.3 +1 validated p.A182V 0.987 41 0% 42 38.1% 2 0% benign(0.002) tolerated(0.17) neutral(0.059) HMMPfam_NCD2 MYO1B 4430 genome.wustl.edu 37 2 192141711 192141711 + Silent SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001130158.1 +1 validated p.T30 0.675 282 0% 270 40.4% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases TMEFF2 23671 genome.wustl.edu 37 2 193059167 193059167 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_016192.2 -1 provisional p.M28I 1.000 43 0% 33 42.4% 0 - benign(0.038) tolerated(0.1) neutral(0.288) NULL IDH1 3417 genome.wustl.edu 37 2 209113256 209113256 + Missense_Mutation SNP T T G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005896.2 -1 reviewed p.E84A 1.000 127 0% 134 41% 34 55.8% benign(0.017) deleterious(0.02) neutral(0.384) HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like PIKFYVE 200576 genome.wustl.edu 37 2 209200594 209200594 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015040.3 +1 reviewed p.E1445G 1.000 88 0% 150 22.7% 1 0% possibly_damaging(0.872) deleterious(0.01) deleterious(0.745) NULL ABCA12 26154 genome.wustl.edu 37 2 215838729 215838729 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_173076.2 -1 reviewed p.T1836A 1.000 126 0% 218 20.2% 0 - benign(0.01) tolerated(0.25) neutral(0.037) NULL FN1 2335 genome.wustl.edu 37 2 216245784 216245784 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_212482.1 -1 reviewed p.G1728 1.000 195 0% 229 27.9% 15 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SLC23A3 151295 genome.wustl.edu 37 2 220026820 220026820 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001144890.1 -1 validated p.R556 0.886 77 0% 78 11.5% 1 0% - - - NULL ABCB6 10058 genome.wustl.edu 37 2 220075791 220075791 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005689.1 -1 reviewed p.P670S 1.000 46 0% 52 15.4% 15 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases TUBA4A 7277 genome.wustl.edu 37 2 220116931 220116931 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006000.1 -1 reviewed p.V9M 1.000 60 0% 75 37.3% 12 41.6% benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like PTPRN 5798 genome.wustl.edu 37 2 220161022 220161022 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002846.2 -1 reviewed p.L812 0.913 145 0% 128 40.6% 0 - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II IRS1 3667 genome.wustl.edu 37 2 227660185 227660185 + Silent SNP T T G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005544.2 -1 reviewed p.A1090 0.085 25 0% 33 42.4% 1 0% - - - NULL AGAP1 116987 genome.wustl.edu 37 2 237028961 237028961 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001037131.1 +1 validated p.T747M 0.319 28 0% 29 44.8% 1 0% benign(0.092) tolerated(0.08) neutral(0.307) superfamily_Ankyrin repeat KIF1A 547 genome.wustl.edu 37 2 241710464 241710464 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004321.4 -1 reviewed p.R413H 1.000 8 0.000 7 0.571 0 - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL CHL1 10752 genome.wustl.edu 37 3 424241 424241 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006614.2 +1 reviewed p.V688A 0.068 208 0% 328 18.3% 0 - benign(0) tolerated(1) - HMMSmart_SM00060,superfamily_Fibronectin type III ITPR1 3708 genome.wustl.edu 37 3 4738868 4738868 + Missense_Mutation SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001099952.2 +1 reviewed p.Y1431F 1.000 41 0% 57 15.8% 0 - probably_damaging(0.983) deleterious(0.02) deleterious(0.812) NULL GRM7 2917 genome.wustl.edu 37 3 7721751 7721751 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_181874.2 +1 reviewed p.T823A 1.000 115 0% 135 11.1% 0 - possibly_damaging(0.809) tolerated(0.11) deleterious(0.576) HMMPfam_7tm_3 C3orf24 115795 genome.wustl.edu 37 3 10146332 10146333 + Frame_Shift_Del DEL GT GT - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_173472.1 -1 validated p.P43fs 1.000:0.995 - - - - - - - - - NULL SLC6A11 6538 genome.wustl.edu 37 3 10861400 10861400 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014229.1 +1 provisional p.I132T 1.000 303 0% 292 35.6% 0 - possibly_damaging(0.943) deleterious(0) deleterious(0.832) HMMPfam_SNF FBLN2 2199 genome.wustl.edu 37 3 13663358 13663358 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001004019.1 +1 reviewed p.N747D 1.000 25 0% 20 25% 0 - benign(0.174) tolerated(0.23) neutral(0.058) HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,superfamily_EGF/Laminin XPC 7508 genome.wustl.edu 37 3 14207036 14207036 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004628.4 -1 reviewed p.C224Y 1.000 47 0% 67 44.8% 2 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ZFYVE20 64145 genome.wustl.edu 37 3 15115336 15115336 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_022340.2 -1 validated p.R770W 0.935 68 0% 59 25.4% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ANKRD28 23243 genome.wustl.edu 37 3 15727542 15727542 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015199.2 -1 provisional p.K682 1.000 31 0% 54 35.2% 1 0% - - - HMMPfam_Ank,superfamily_Ankyrin repeat TOP2B 7155 genome.wustl.edu 37 3 25668727 25668727 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001068.2 -1 reviewed p.R651H 1.000 295 0% 499 20.2% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_TOP2c,superfamily_Topo_IIA_cen GPD1L 23171 genome.wustl.edu 37 3 32200539 32200539 + Missense_Mutation SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015141.3 +1 validated p.I264F 1.000 14 0% 16 25% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_NAD_Gly3P_dh_C,superfamily_6DGDH_C_like SUSD5 26032 genome.wustl.edu 37 3 33195512 33195512 + Silent SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000412539 -1 known p.H140L 0.960 87 0% 71 21.1% 0 - - - - NULL CCBP2 1238 genome.wustl.edu 37 3 42907038 42907038 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001296.4 +1 reviewed p.S348 0.746 354 0% 272 36.8% 0 - - - - superfamily_SSF81321 PRSS45 377047 genome.wustl.edu 37 3 46784572 46784572 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_199183.2 -1 validated p.S95N 0.002 58 0% 53 41.5% 0 - benign(0.004) tolerated(0.19) neutral(0.050) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys C3orf75 54859 genome.wustl.edu 37 3 47539912 47539912 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001031703.2 -1 validated p.V179A 1.000 93 0% 101 36.6% 14 50% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_DUF2348 CSPG5 10675 genome.wustl.edu 37 3 47618829 47618829 + Silent SNP T T G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006574.3 -1 validated p.P229 0.889 17 0% 26 30.8% 1 100% - - - HMMPfam_Chon_Sulph_att PLXNB1 5364 genome.wustl.edu 37 3 48462779 48462779 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001130082.1 -1 validated p.V556 0.992 71 0% 55 32.7% 10 30% - - - NULL COL7A1 1294 genome.wustl.edu 37 3 48604429 48604429 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000094.3 -1 reviewed p.G2713C 1.000 128 0% 88 23.9% 4 0% unknown(0) deleterious(0) - HMMPfam_Collagen RNF123 63891 genome.wustl.edu 37 3 49751344 49751344 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_022064.2 +1 reviewed p.R947C 1.000 11 0% 14 28.6% 9 22.2% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL IFRD2 7866 genome.wustl.edu 37 3 50325651 50325651 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006764.4 -1 validated p.V498M 0.881 26 0% 15 73.3% 26 38.4% benign(0.089) tolerated(0.22) neutral(0.049) HMMPfam_IFRD_C DOCK3 1795 genome.wustl.edu 37 3 51412015 51412015 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004947.3 +1 validated p.G1803 1.000 34 0% 35 11.4% 0 - - - - NULL PHF7 51533 genome.wustl.edu 37 3 52453937 52453937 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_016483.4 +1 reviewed p.R92Q 1.000 23 0% 31 22.6% 3 66.6% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL ITIH3 3699 genome.wustl.edu 37 3 52830584 52830584 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002217.3 +1 validated p.V68I 0.208 25 0% 17 35.3% 0 - benign(0.011) deleterious(0.01) neutral(0.406) HMMSmart_SM00609,HMMPfam_VIT CACNA1D 776 genome.wustl.edu 37 3 53834384 53834384 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000720.2 +1 validated p.V1698M 0.998 153 0% 195 27.2% 2 50% benign(0) tolerated(0.22) neutral(0.042) NULL CCDC66 285331 genome.wustl.edu 37 3 56655847 56655850 + RNA DEL AAAA AAAA - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NR_024460.1 +1 validated NULL 0.000:0.000:0.007:0.115 - - - - - - - - - - FLNB 2317 genome.wustl.edu 37 3 58131666 58131666 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001457.3 +1 reviewed p.Y1815C 1.000 126 0% 105 33.3% 6 33.3% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMSmart_IG_FLMN,superfamily_Ig_E-set ATXN7 6314 genome.wustl.edu 37 3 63975861 63975861 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001128149.2 +1 reviewed p.G457 1.000 118 0% 82 29.3% 0 - - - - NULL PROS1 5627 genome.wustl.edu 37 3 93598153 93598153 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000313.3 -1 reviewed p.V500I 0.000 166 0% 202 37.6% 0 - benign(0.001) tolerated(0.51) neutral(0.009) superfamily_ConA_like_lec_gl SENP7 57337 genome.wustl.edu 37 3 101058937 101058937 + Splice_Site SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020654.3 -1 validated e16+2 1.000 71 0% 84 17.9% 0 - - - - - NFKBIZ 64332 genome.wustl.edu 37 3 101571951 101571951 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_031419.2 +1 reviewed p.P194Q 1.000 155 0% 169 13% 0 - possibly_damaging(0.762) deleterious(0.01) deleterious(0.688) NULL ALCAM 214 genome.wustl.edu 37 3 105271426 105271426 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001627.2 +1 validated p.S554L 1.000 167 0% 249 35.7% 3 33.3% possibly_damaging(0.626) tolerated(0.42) neutral(0.232) NULL CD47 961 genome.wustl.edu 37 3 107798859 107798859 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001777.3 -1 reviewed p.I127V 0.000 369 0% 481 33.1% 23 47.8% benign(0) tolerated(0.85) neutral(0.001) HMMPfam_V-set_CD47 BOC 91653 genome.wustl.edu 37 3 112993474 112993474 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_033254.2 +1 validated p.R496Q 1.000 20 0% 22 40.9% 1 0% probably_damaging(1) tolerated(0.35) deleterious(0.520) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SIDT1 54847 genome.wustl.edu 37 3 113327307 113327307 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_017699.2 +1 validated p.M548I 1.000 263 0% 324 34.3% 0 - possibly_damaging(0.485) deleterious(0.01) deleterious(0.567) NULL ZDHHC23 254887 genome.wustl.edu 37 3 113677268 113677268 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_173570.3 +1 validated p.Y367H 1.000 59 0% 66 27.3% 0 - benign(0.154) tolerated(0.58) neutral(0.018) NULL ARHGAP31 57514 genome.wustl.edu 37 3 119120754 119120754 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020754.2 +1 reviewed p.T385 0.000 53 0% 70 34.3% 1 0% - - - NULL ARHGAP31 57514 genome.wustl.edu 37 3 119135065 119135065 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020754.2 +1 reviewed p.R1430Q 1.000 246 0% 335 39.1% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL GOLGB1 2804 genome.wustl.edu 37 3 121409851 121409852 + Frame_Shift_Del DEL TC TC - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004487.3 -1 validated p.D2782fs 0.003:0.001 - - - - - - - - - NULL KALRN 8997 genome.wustl.edu 37 3 124211620 124211620 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001024660.3 +1 reviewed p.K1573E 1.000 139 0% 145 36.6% 0 - possibly_damaging(0.886) deleterious(0) deleterious(0.791) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like KIAA1257 57501 genome.wustl.edu 37 3 128690195 128690195 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020741.2 -1 predicted p.T368M 0.000 32 0% 17 35.3% 1 0% probably_damaging(0.979) tolerated(0.1) deleterious(0.708) NULL PLXND1 23129 genome.wustl.edu 37 3 129286388 129286388 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015103.2 -1 validated p.G1345S 1.000 20 0% 13 30.8% 13 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Plexin_cytopl RYK 6259 genome.wustl.edu 37 3 133930412 133930412 + Nonsense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000460933 -1 known p.W111* 1.000 179 0.6% 264 44.7% 2 50% possibly_damaging(0.95) tolerated(0.16) neutral(0.453) HMMPfam_WIF,HMMSmart_SM00469 AMOTL2 51421 genome.wustl.edu 37 3 134090157 134090157 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_016201.2 -1 reviewed p.R40M 1.000 13 0.000 8 0.625 1 0% probably_damaging(0.981) tolerated(0.08) deleterious(0.726) NULL ANAPC13 25847 genome.wustl.edu 37 3 134204834 134204836 + RNA DEL CCC CCC - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 CCC CCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NR_024400.1 -1 reviewed NULL 0.020:0.021:0.022 - - - - - - - - - - STAG1 10274 genome.wustl.edu 37 3 136162183 136162183 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005862.2 -1 reviewed p.D498Y 1.000 336 0% 381 34.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold PRR23B 389151 genome.wustl.edu 37 3 138739038 138739038 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001013650.2 -1 validated p.E156K 0.000 37 0% 62 35.5% 1 100% benign(0.327) tolerated(0.15) neutral(0.343) HMMPfam_DUF2476 SLC9A9 285195 genome.wustl.edu 37 3 143214264 143214264 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_173653.3 -1 reviewed p.A372 0.396 313 0% 436 37.6% 0 - - - - HMMPfam_Na_H_Exchanger PLSCR2 57047 genome.wustl.edu 37 3 146171809 146171809 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020359.1 -1 provisional p.I155V 0.026 204 0% 220 34.5% 0 - benign(0) tolerated(0.17) neutral(0.059) HMMPfam_Scramblase TM4SF18 116441 genome.wustl.edu 37 3 149048191 149048191 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_138786.3 -1 validated p.T65A 0.034 131 0% 136 19.1% 0 - benign(0) tolerated(0.59) neutral(0.004) HMMPfam_L6_membrane RNF13 11342 genome.wustl.edu 37 3 149563870 149563870 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_007282.4 +1 reviewed p.L19 1.000 181 0% 218 36.7% 7 0% - - - NULL TSC22D2 9819 genome.wustl.edu 37 3 150129038 150129038 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014779.2 +1 provisional p.N634S 1.000 57 0% 55 23.6% 3 33.3% benign(0.047) tolerated(0.88) neutral(0.003) NULL MED12L 116931 genome.wustl.edu 37 3 151105940 151105940 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_053002.4 +1 reviewed p.K1776E 0.588 177 0% 214 27.6% 0 - possibly_damaging(0.564) tolerated(0.55) neutral(0.200) NULL GMPS 8833 genome.wustl.edu 37 3 155652794 155652794 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003875.2 +1 reviewed p.R589H 1.000 368 0% 337 38.3% 17 35.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GMP_synt_C,superfamily_GMP synthetase C-terminal dimerisation domain SSR3 6747 genome.wustl.edu 37 3 156272850 156272850 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_007107.2 -1 reviewed p.Q10R 1.000 21 0% 26 19.2% 18 0% benign(0.071) tolerated(0.24) neutral(0.042) NULL SI 6476 genome.wustl.edu 37 3 164757724 164757724 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001041.3 -1 reviewed p.T732I 0.000 406 0% 651 26.1% 0 - benign(0.072) deleterious(0.02) neutral(0.388) HMMPfam_Glyco_hydro_31 LRRC34 151827 genome.wustl.edu 37 3 169514551 169514551 + Missense_Mutation SNP C C T rs143470723 by1000genomes TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_153353.4 -1 validated p.R252H 0.298 97 0% 143 35.7% 0 - probably_damaging(0.986) deleterious(0.02) deleterious(0.818) HMMSmart_SM00368,superfamily_RNI-like ECT2 1894 genome.wustl.edu 37 3 172523535 172523535 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000437296 +1 known p.A47T 0.957 85 0% 141 35.5% 6 50% - - - superfamily_PH domain-like ZNF639 51193 genome.wustl.edu 37 3 179052171 179052171 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_016331.1 +1 provisional p.R473 1.000 96 0% 90 36.7% 8 62.5% - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PARL 55486 genome.wustl.edu 37 3 183584518 183584518 + Nonsense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018622.5 -1 reviewed p.W119* 1.000 301 0% 254 13.4% 8 0% - - - NULL ATP13A4 84239 genome.wustl.edu 37 3 193130067 193130067 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032279.2 -1 validated p.F1036 1.000 437 0% 557 33.6% 0 - - - - superfamily_Calcium ATPase transmembrane domain M PIGG 54872 genome.wustl.edu 37 4 509772 509772 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001127178.1 +1 validated p.R304 0.006 81 0% 69 10.1% 4 0% - - - superfamily_Alkaline phosphatase-like NOP14 8602 genome.wustl.edu 37 4 2940640 2940640 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003703.1 -1 validated p.R831Q 0.995 33 0% 36 13.9% 10 30% probably_damaging(0.978) deleterious(0.02) deleterious(0.803) HMMPfam_Nop14 OTOP1 133060 genome.wustl.edu 37 4 4199447 4199447 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_177998.1 -1 provisional p.Y372H 0.969 113 0% 68 27.9% 0 - possibly_damaging(0.924) tolerated(0.43) neutral(0.387) HMMPfam_DUF270 MAN2B2 23324 genome.wustl.edu 37 4 6598876 6598876 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015274.1 +1 validated p.R365L 0.997 37 0% 34 47.1% 11 45.4% possibly_damaging(0.921) deleterious(0.01) deleterious(0.776) HMMPfam_Alpha-mann_mid,superfamily_Families 57/38 glycoside transferase middle domain SORCS2 57537 genome.wustl.edu 37 4 7640154 7640154 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020777.2 +1 reviewed p.V250M 0.977 78 0% 47 34% 0 - possibly_damaging(0.843) tolerated(0.07) deleterious(0.642) HMMSmart_SM00602,superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase ZNF518B 85460 genome.wustl.edu 37 4 10446120 10446120 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_053042.2 -1 validated p.P611 0.002 277 0% 281 39.5% 0 - - - - NULL HS3ST1 9957 genome.wustl.edu 37 4 11401090 11401090 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005114.2 -1 reviewed p.R180 0.047 27 0% 26 65.4% 4 25% - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases BOD1L 259282 genome.wustl.edu 37 4 13602662 13602662 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_148894.2 -1 validated p.V1954 0.009 193 0% 237 34.2% 0 - - - - superfamily_SSF81995 PACRGL 133015 genome.wustl.edu 37 4 20714507 20714507 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_145048.3 +1 validated p.L155 0.998 476 0% 571 27% 3 33.3% - - - HMMPfam_ParcG ZCCHC4 29063 genome.wustl.edu 37 4 25351168 25351170 + In_Frame_Del DEL ATT ATT - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 ATT ATT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_024936.2 +1 validated p.I272in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL CCKAR 886 genome.wustl.edu 37 4 26483639 26483639 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000730.2 -1 reviewed p.A303V 1.000 86 0% 78 35.9% 0 - probably_damaging(0.953) deleterious(0.03) deleterious(0.761) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like KLF3 51274 genome.wustl.edu 37 4 38682297 38682297 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_016531.5 +1 validated p.V17 1.000 565 0% 584 40.2% 1 0% - - - NULL RBM47 54502 genome.wustl.edu 37 4 40440697 40440697 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001098634.1 -1 validated p.E72K 1.000 6 0.000 12 0.500 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00360,superfamily_RNA-binding domain RBD SLC30A9 10463 genome.wustl.edu 37 4 42022471 42022471 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006345.3 +1 validated p.Y125H 1.000 163 0% 225 21.8% 4 25% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL NFXL1 152518 genome.wustl.edu 37 4 47901059 47901059 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152995.4 -1 validated p.S302N 1.000 113 0% 163 39.9% 0 - benign(0.33) tolerated(0.35) neutral(0.124) NULL CNGA1 1259 genome.wustl.edu 37 4 47939420 47939420 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001142564.1 -1 reviewed p.G433D 1.000 383 0% 522 28% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels FRYL 285527 genome.wustl.edu 37 4 48542902 48542902 + Missense_Mutation SNP G G C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015030.1 -1 validated p.S1921R 1.000 164 0% 260 27.3% 0 - benign(0.007) tolerated(0.08) neutral(0.300) superfamily_ARM repeat LOC441016 441016 genome.wustl.edu 37 4 54441976 54441976 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 XM_496693.4 +1 model p.V82M 0.206 71 0% 60 43.3% 0 - - - - NULL EPHA5 2044 genome.wustl.edu 37 4 66270161 66270161 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004439.5 -1 reviewed p.V574A 1.000 129 0% 213 22.1% 0 - benign(0.001) tolerated(0.24) neutral(0.037) NULL UBA6 55236 genome.wustl.edu 37 4 68539456 68539456 + Missense_Mutation SNP T T G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018227.5 -1 validated p.K169Q 1.000 162 0% 186 36.6% 0 - possibly_damaging(0.811) tolerated(0.25) neutral(0.342) HMMPfam_ThiF,superfamily_Activating enzymes of the ubiquitin-like proteins YTHDC1 91746 genome.wustl.edu 37 4 69202890 69202890 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001031732.2 -1 validated p.E246 0.643 207 0% 242 38% 2 0% - - - NULL PROL1 58503 genome.wustl.edu 37 4 71275582 71275582 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_021225.4 +1 reviewed p.T179 0.004 547 0% 394 21.6% 1 0% - - - NULL GRSF1 2926 genome.wustl.edu 37 4 71691071 71691071 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000514161 -1 known p.C382Y 1.000 86 0% 121 24% 34 32.3% - - - HMMSmart_SM00360,superfamily_RNA-binding domain RBD ADAMTS3 9508 genome.wustl.edu 37 4 73169655 73169655 + Silent SNP T T C rs149726955 by1000genomes TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014243.1 -1 reviewed p.L801 0.993 332 0% 532 34.6% 0 - - - - HMMPfam_ADAM_spacer1 ADAMTS3 9508 genome.wustl.edu 37 4 73176832 73176832 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014243.1 -1 reviewed p.L663R 1.000 136 0% 297 43.1% 0 - probably_damaging(0.987) tolerated(0.07) deleterious(0.756) NULL ANKRD17 26057 genome.wustl.edu 37 4 74014697 74014697 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032217.3 -1 reviewed p.F467S 1.000 56 0% 58 13.8% 0 - benign(0.331) tolerated(0.15) neutral(0.345) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ALB 213 genome.wustl.edu 37 4 74270103 74270103 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000477.5 +1 reviewed p.G20D 0.908 105 0% 145 46.2% 2 0% benign(0.015) tolerated(0.3) neutral(0.029) HMMSmart_SM00103 SDAD1 55153 genome.wustl.edu 37 4 76911963 76911963 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018115.2 -1 validated p.S11I 1.000 67 0% 48 35.4% 1 0% benign(0.312) deleterious(0.03) neutral(0.462) NULL WDFY3 23001 genome.wustl.edu 37 4 85605186 85605186 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014991.4 -1 reviewed p.S3212 1.000 69 0% 85 36.5% 13 23% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 PTPN13 5783 genome.wustl.edu 37 4 87692397 87692397 + Missense_Mutation SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_080685.2 +1 reviewed p.Q1631L 0.964 42 0% 76 44.7% 0 - possibly_damaging(0.56) tolerated(0.05) deleterious(0.536) NULL HERC3 8916 genome.wustl.edu 37 4 89599113 89599113 + Splice_Site SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014606.1 +1 provisional e17-2 0.998 117 0% 187 33.7% 0 - - - - - METAP1 23173 genome.wustl.edu 37 4 99962265 99962265 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015143.2 +1 validated p.H168 0.996 46 0% 61 42.6% 17 58.8% - - - HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase CENPE 1062 genome.wustl.edu 37 4 104064529 104064529 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001813.2 -1 validated p.H1727R 0.522 312 0% 289 27% 0 - benign(0.195) tolerated(0.34) neutral(0.041) NULL TET2 54790 genome.wustl.edu 37 4 106155923 106155923 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001127208.1 +1 validated p.N275S 0.874 161 0% 179 19.6% 0 - possibly_damaging(0.891) deleterious(0.04) deleterious(0.700) NULL ALPK1 80216 genome.wustl.edu 37 4 113362121 113362121 + Missense_Mutation SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001102406.1 +1 validated p.Q1196L 1.000 331 0% 359 24% 18 0% benign(0.282) deleterious(0) deleterious(0.531) HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like) PRSS12 8492 genome.wustl.edu 37 4 119203342 119203342 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003619.2 -1 reviewed p.F793L 0.000 324 0% 438 34.9% 2 0% benign(0) tolerated(0.61) neutral(0.004) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases METTL14 57721 genome.wustl.edu 37 4 119626803 119626803 + Missense_Mutation SNP G G C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020961.2 +1 provisional p.R298P 1.000 339 0% 417 36.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MT-A70 SEC24D 9871 genome.wustl.edu 37 4 119659424 119659424 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014822.2 -1 reviewed p.A830T 0.915 97 0% 202 34.7% 14 42.8% benign(0) tolerated(0.43) neutral(0.013) HMMPfam_Sec23_helical,superfamily_Helical domain of Sec23/24 PDE5A 8654 genome.wustl.edu 37 4 120428839 120428839 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000503412 -1 known p.A55V 1.000 76 0% 177 15.8% 1 0% - - - HMMPfam_PDEase_I,superfamily_HD-domain/PDEase-like BBS7 55212 genome.wustl.edu 37 4 122756344 122756344 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_176824.1 -1 reviewed p.K489R 1.000 182 0% 243 16% 2 0% probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL SH3D19 152503 genome.wustl.edu 37 4 152054227 152054227 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001009555.3 -1 validated p.E626G 1.000 163 0% 178 30.3% 2 100% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain PET112 5188 genome.wustl.edu 37 4 152638164 152638164 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004564.2 -1 validated p.G168 0.014 264 0% 253 36% 3 33.3% - - - HMMPfam_GatB_N KIAA0922 23240 genome.wustl.edu 37 4 154542019 154542019 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015196.3 +1 validated p.A1226T 0.000 537 0.2% 576 30.4% 2 0% benign(0.129) tolerated(0.16) neutral(0.070) NULL DCHS2 54798 genome.wustl.edu 37 4 155241887 155241887 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_017639.3 -1 validated p.P1100H 0.001 502 0% 648 19.1% 0 - probably_damaging(0.955) tolerated(0.08) deleterious(0.699) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like KLHL2 11275 genome.wustl.edu 37 4 166141163 166141163 + Missense_Mutation SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_007246.3 +1 validated p.N35I 1.000 112 0% 143 19.6% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_BTB/POZ_fold NEK1 4750 genome.wustl.edu 37 4 170398305 170398305 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012224.1 -1 validated p.T774A 0.109 56 0% 90 48.9% 1 100% benign(0.044) tolerated(0.1) neutral(0.289) NULL CLCN3 1182 genome.wustl.edu 37 4 170641138 170641138 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001829.2 +1 validated p.M816T 1.000 190 0% 237 13.1% 9 0% benign(0.001) deleterious(0.01) neutral(0.406) NULL MORF4 10934 genome.wustl.edu 37 4 174537466 174537466 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006792.2 -1 validated p.A110V 1.000 668 0% 893 38.6% 0 - - - - HMMPfam_MRG RWDD4 201965 genome.wustl.edu 37 4 184570624 184570624 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152682.2 -1 validated p.R154H 1.000 307 0% 374 40.4% 10 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TRIML1 339976 genome.wustl.edu 37 4 189068242 189068242 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_178556.3 +1 provisional p.L375M 0.998 106 0% 85 37.6% 0 - benign(0.088) tolerated(0.22) neutral(0.049) HMMPfam_SPRY,HMMSmart_SPRY AHRR 57491 genome.wustl.edu 37 5 428002 428002 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020731.3 +1 reviewed p.R285 0.955 25 0% 37 45.9% 0 - - - - NULL SLC6A18 348932 genome.wustl.edu 37 5 1232980 1232980 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_182632.2 +1 validated p.C139Y 1.000 15 0% 21 42.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_2 CTNND2 1501 genome.wustl.edu 37 5 11346701 11346701 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001332.2 -1 validated p.R471C 1.000 39 0% 32 59.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYO10 4651 genome.wustl.edu 37 5 16676163 16676163 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012334.2 -1 validated p.P1548L 1.000 126 0% 113 33.6% 10 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_MyTH4 PDZD2 23037 genome.wustl.edu 37 5 32101302 32101302 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_178140.2 +1 reviewed p.S2770 0.000 47 0% 36 27.8% 0 - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like ADAMTS12 81792 genome.wustl.edu 37 5 33614346 33614346 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_030955.2 -1 reviewed p.T842A 0.969 78 0% 65 41.5% 0 - benign(0.02) tolerated(1) neutral(0.001) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat SPEF2 79925 genome.wustl.edu 37 5 35705907 35705907 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_024867.3 +1 validated p.K888E 0.883 64 0% 143 20.3% 0 - benign(0.001) tolerated(1) - NULL PRKAA1 5562 genome.wustl.edu 37 5 40764941 40764941 + Nonsense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_206907.3 -1 reviewed p.W422* 1.000 133 0.8% 139 12.9% 5 0% - - - NULL HEATR7B2 133558 genome.wustl.edu 37 5 41018486 41018486 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_173489.4 -1 validated p.R907I 1.000 65 0% 89 40.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat IL6ST 3572 genome.wustl.edu 37 5 55237497 55237497 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002184.2 -1 reviewed p.H724Y 1.000 321 0% 413 41.6% 2 0% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) NULL ANKRD55 79722 genome.wustl.edu 37 5 55396057 55396057 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_024669.2 -1 validated p.A600T 0.005 108 0% 119 21.8% 0 - benign(0) tolerated(0.11) neutral(0.272) NULL LOC345645 345645 genome.wustl.edu 37 5 55571340 55571340 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 XM_002342506.1 -1 model p.S345N 1.000 71 0% 81 25.9% 0 - - - - HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases MAP3K1 4214 genome.wustl.edu 37 5 56177039 56177039 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005921.1 +1 validated p.A770V 1.000 121 0% 134 32.8% 2 100% possibly_damaging(0.621) deleterious(0.01) deleterious(0.622) NULL MAP3K1 4214 genome.wustl.edu 37 5 56177505 56177505 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005921.1 +1 validated p.M826I 1.000 222 0% 290 39% 2 50% benign(0.431) tolerated(0.12) neutral(0.401) NULL MAP3K1 4214 genome.wustl.edu 37 5 56177920 56177921 + Frame_Shift_Ins INS - - AGTG novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005921.1 +1 validated p.C966fs 1.000:1.000 - - - - - - - - - NULL MAP3K1 4214 genome.wustl.edu 37 5 56181859 56181859 + Missense_Mutation SNP T T G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005921.1 +1 validated p.H1361Q 1.000 184 0% 283 25.1% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ADAMTS6 11174 genome.wustl.edu 37 5 64766674 64766674 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_197941.2 -1 reviewed p.C131 1.000 97 0% 106 17.9% 0 - - - - HMMPfam_Pep_M12B_propep PIK3R1 5295 genome.wustl.edu 37 5 67591106 67591106 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_181523.1 +1 reviewed p.K567E 1.000 140 0% 220 39.5% 9 66.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CCNB1 891 genome.wustl.edu 37 5 68464151 68464152 + Frame_Shift_Del DEL TT TT - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_031966.2 +1 reviewed p.S116fs 0.004:0.000 - - - - - - - - - NULL ARSB 411 genome.wustl.edu 37 5 78260315 78260315 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000046.3 -1 reviewed p.G205V 0.985 72 0% 105 29.5% 1 100% possibly_damaging(0.884) deleterious(0.02) deleterious(0.728) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core VCAN 1462 genome.wustl.edu 37 5 82835957 82835957 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004385.4 +1 reviewed p.E2379K 0.001 126 0% 233 29.2% 2 0% possibly_damaging(0.784) - - NULL WDR36 134430 genome.wustl.edu 37 5 110439580 110439580 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_139281.2 +1 reviewed p.Q287 1.000 124 0% 157 22.9% 0 - - - - HMMSmart_WD40,superfamily_Amine_DH_B_like,superfamily_WD40_like ZRSR1 7310 genome.wustl.edu 37 5 112228669 112228669 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000391338 +1 known p.R445C 0.147 41 0% 54 16.7% 0 - unknown(0) deleterious(0.03) - NULL SLC12A2 6558 genome.wustl.edu 37 5 127485701 127485701 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001046.2 +1 validated p.V673A 1.000 100 0% 194 34% 6 0% benign(0.008) tolerated(0.52) neutral(0.009) HMMPfam_AA_permease SEC24A 10802 genome.wustl.edu 37 5 134010832 134010832 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_021982.1 +1 validated p.M359T 1.000 116 0% 109 38.5% 1 0% benign(0.001) tolerated(0.19) neutral(0.050) superfamily_beta-sandwich domain of Sec23/24 TGFBI 7045 genome.wustl.edu 37 5 135391478 135391478 + Missense_Mutation SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000358.2 +1 reviewed p.D507V 0.999 18 0% 29 41.4% 31 0% possibly_damaging(0.866) deleterious(0) deleterious(0.780) superfamily_FAS1 domain KLHL3 26249 genome.wustl.edu 37 5 136961467 136961467 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_017415.2 -1 validated p.N570 1.000 91 0% 103 31.1% 0 - - - - HMMPfam_Kelch_1,HMMSmart_SM00612 CXXC5 51523 genome.wustl.edu 37 5 139060877 139060879 + In_Frame_Del DEL AAG AAG - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_016463.7 +1 provisional p.K259in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_zf-CXXC ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139917103 139917103 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020690.4 +1 reviewed p.P2386L 1.000 157 0% 189 48.1% 19 42.1% probably_damaging(1) tolerated(0.62) deleterious(0.504) NULL IK 3550 genome.wustl.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006083.3 +1 reviewed p.R93fs 1.000:1.000 - - - - - - - - - HMMPfam_RED_N PCDHA4 56144 genome.wustl.edu 37 5 140188965 140188965 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018907.2 +1 reviewed p.A731 0.000 28 0% 59 49.2% 1 0% - - - NULL PCDHA5 56143 genome.wustl.edu 37 5 140201403 140201403 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018908.2 +1 reviewed p.L15 0.965 31 0% 52 38.5% 0 - - - - NULL PCDHB17 54661 genome.wustl.edu 37 5 140537110 140537110 + RNA SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NR_001280.1 +1 provisional NULL 0.999 83 0% 164 36% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) - PCDHB7 56129 genome.wustl.edu 37 5 140553993 140553993 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018940.2 +1 reviewed p.A526E 0.030 55 0% 80 35% 0 - benign(0.033) tolerated(1) neutral(0.002) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB10 56126 genome.wustl.edu 37 5 140573817 140573817 + Silent SNP G G A rs17844602 TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018930.3 +1 reviewed p.P564 0.064 24 0% 55 30.9% 2 50% - - - superfamily_Cadherin PCDHGA1 56114 genome.wustl.edu 37 5 140711187 140711187 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018912.2 +1 reviewed p.Y312 0.003 133 0% 123 18.7% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA7 56108 genome.wustl.edu 37 5 140764619 140764619 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018920.2 +1 reviewed p.R718H 0.979 35 0% 41 19.5% 0 - possibly_damaging(0.496) tolerated(0.15) neutral(0.406) NULL PCDHGA12 26025 genome.wustl.edu 37 5 140810496 140810496 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003735.2 +1 reviewed p.R57Q 0.000 147 0% 64 40.6% 0 - benign(0.011) tolerated(0.63) neutral(0.004) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGA12 26025 genome.wustl.edu 37 5 140812017 140812017 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003735.2 +1 reviewed p.Y564C 1.000 336 0.3% 97 23.7% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_Cadherin-like PCDHGC5 56097 genome.wustl.edu 37 5 140870377 140870377 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018929.2 +1 reviewed p.Y524H 1.000 190 0% 205 25.9% 0 - possibly_damaging(0.767) tolerated(0.31) neutral(0.311) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ARAP3 64411 genome.wustl.edu 37 5 141052465 141052465 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_022481.5 -1 reviewed p.L374P 0.996 59 0% 37 45.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 PCDH1 5097 genome.wustl.edu 37 5 141248319 141248319 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032420.2 -1 reviewed p.R240S 1.000 118 0% 90 22.2% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin SPINK9 643394 genome.wustl.edu 37 5 147719256 147719256 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001040433.1 +1 provisional p.V81A 0.072 161 0% 222 10.8% 0 - benign(0.093) tolerated(0.34) neutral(0.030) HMMPfam_Kazal_1,HMMSmart_KAZAL,superfamily_SSF100895 GEMIN5 25929 genome.wustl.edu 37 5 154308128 154308128 + Nonsense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015465.3 -1 validated p.W291* 1.000 372 0% 301 35.5% 0 - - - - superfamily_WD40 repeat-like ATP10B 23120 genome.wustl.edu 37 5 160059310 160059310 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_025153.2 -1 validated p.C482 0.019 134 0% 126 44.4% 0 - - - - superfamily_HAD-like ERGIC1 57222 genome.wustl.edu 37 5 172336672 172336672 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001031711.2 +1 reviewed p.V53A 1.000 81 0% 54 37% 26 50% possibly_damaging(0.942) deleterious(0.01) deleterious(0.792) NULL SLC34A1 6569 genome.wustl.edu 37 5 176824839 176824839 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003052.4 +1 reviewed p.V491A 0.944 25 0% 42 26.2% 0 - benign(0.194) deleterious(0) neutral(0.463) HMMPfam_Na_Pi_cotrans CLK4 57396 genome.wustl.edu 37 5 178030861 178030861 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020666.2 -1 reviewed p.R430H 1.000 224 0% 259 32% 6 16.6% benign(0.024) tolerated(0.22) neutral(0.043) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ZFP2 80108 genome.wustl.edu 37 5 178358395 178358395 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_030613.2 +1 provisional p.S27 0.001 160 0% 152 27.6% 2 100% - - - NULL GRM6 2916 genome.wustl.edu 37 5 178416307 178416307 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000843.3 -1 reviewed p.S371N 0.998 45 0% 32 12.5% 0 - benign(0.001) tolerated(0.45) neutral(0.012) HMMPfam_ANF_receptor,superfamily_SSF53822 ZNF879 345462 genome.wustl.edu 37 5 178459904 178459904 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001136116.1 +1 provisional p.N319D 0.453 44 0% 38 15.8% 0 - possibly_damaging(0.455) tolerated(0.21) neutral(0.193) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers OR2V2 285659 genome.wustl.edu 37 5 180582337 180582337 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_206880.1 +1 provisional p.H132R 0.270 247 0% 213 39% 0 - benign(0.002) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 ECI2 10455 genome.wustl.edu 37 6 4125559 4125559 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006117.2 -1 validated p.A210 0.946 116 0% 133 17.3% 58 43.1% - - - HMMPfam_ECH,superfamily_SSF52096 LRRC16A 55604 genome.wustl.edu 37 6 25479441 25479441 + Missense_Mutation SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000377969 +1 known p.D166V 0.003 534 0% 715 23.2% 0 - benign(0) - - NULL SCGN 10590 genome.wustl.edu 37 6 25661872 25661872 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006998.3 +1 reviewed p.E82D 1.000 89 0% 115 19.1% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_EF-hand HIST1H1T 3010 genome.wustl.edu 37 6 26107814 26107814 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005323.3 -1 reviewed p.A170T 0.092 195 0% 182 42.3% 0 - benign(0) tolerated(0.48) neutral(0.011) NULL ZNF165 7718 genome.wustl.edu 37 6 28053633 28053633 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003447.3 +1 reviewed p.E125D 0.753 80 0% 66 15.2% 3 0% possibly_damaging(0.945) tolerated(0.22) neutral(0.431) HMMPfam_SCAN,HMMSmart_SM00431 OR2J3 442186 genome.wustl.edu 37 6 29079789 29079789 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001005216.2 +1 validated p.T41I 0.152 532 0% 681 37% 0 - probably_damaging(0.963) tolerated(0.14) deleterious(0.655) superfamily_SSF81321 OR2H2 7932 genome.wustl.edu 37 6 29555743 29555743 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_007160.3 +1 provisional p.P8S 0.000 605 0% 504 24% 1 0% benign(0) tolerated(0.75) neutral(0.002) superfamily_Family A G protein-coupled receptor-like ZFP57 346171 genome.wustl.edu 37 6 29641021 29641021 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001109809.2 -1 reviewed p.G269 0.000 219 0% 180 42.8% 0 - - - - NULL PPP1R10 5514 genome.wustl.edu 37 6 30572503 30572503 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002714.2 -1 reviewed p.F322L 0.998 353 0% 244 35.2% 10 60% probably_damaging(0.985) tolerated(1) neutral(0.432) NULL DHX16 8449 genome.wustl.edu 37 6 30630402 30630402 + Splice_Site SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003587.4 -1 reviewed e9+2 1.000 42 0% 55 23.6% 0 - - - - - B3GALT4 8705 genome.wustl.edu 37 6 33246117 33246118 + Frame_Shift_Del DEL GT GT - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003782.3 +1 reviewed p.V309fs 0.973:0.968 - - - - - - - - - HMMPfam_Galactosyl_T UHRF1BP1 54887 genome.wustl.edu 37 6 34825928 34825928 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_017754.3 +1 validated p.R599W 0.000 147 0% 186 45.7% 0 - possibly_damaging(0.451) deleterious(0.02) deleterious(0.530) NULL MAPK13 5603 genome.wustl.edu 37 6 36107130 36107130 + Missense_Mutation SNP C C T rs183038663 by1000genomes TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002754.3 +1 reviewed p.R360W 0.996 116 0% 76 15.8% 8 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL DNAH8 1769 genome.wustl.edu 37 6 38997986 38997986 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001371.2 +1 validated p.V4431M 0.996 127 0% 118 39% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Dynein_heavy LRFN2 57497 genome.wustl.edu 37 6 40360418 40360418 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020737.1 -1 provisional p.T545M 0.998 55 0% 36 44.4% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL TRERF1 55809 genome.wustl.edu 37 6 42236518 42236518 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_033502.2 -1 reviewed p.P271T 0.592 59 0% 60 10% 0 - possibly_damaging(0.771) deleterious(0.01) deleterious(0.692) NULL ABCC10 89845 genome.wustl.edu 37 6 43412999 43412999 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_033450.2 +1 reviewed p.T965P 0.918 44 4.5% 42 19% 6 16.6% benign(0.408) deleterious(0.05) deleterious(0.477) HMMPfam_ABC_membrane,superfamily_ABC_TM_1 PKHD1 5314 genome.wustl.edu 37 6 51890943 51890943 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_138694.3 -1 reviewed p.S1222N 0.255 124 0% 118 21.2% 0 - possibly_damaging(0.444) tolerated(0.54) neutral(0.152) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains FAM83B 222584 genome.wustl.edu 37 6 54806605 54806605 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001010872.1 +1 validated p.S946P 0.178 199 0% 237 36.7% 0 - possibly_damaging(0.462) tolerated(0.08) neutral(0.452) NULL DST 667 genome.wustl.edu 37 6 56417655 56417655 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015548.4 -1 reviewed p.L2689R 0.973 180 0% 248 47.6% 0 - probably_damaging(1) - - NULL ZNF451 26036 genome.wustl.edu 37 6 57012757 57012757 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001031623.2 +1 validated p.C625Y 1.000 249 0% 353 41.4% 2 0% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMSmart_SM00355 UBE3D 90025 genome.wustl.edu 37 6 83767616 83767616 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_198920.1 -1 provisional p.C68Y 0.002 52 0% 73 37% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_DUF2351 CNR1 1268 genome.wustl.edu 37 6 88854350 88854350 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_016083.4 -1 reviewed p.Y215C 1.000 48 0% 44 31.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like MDN1 23195 genome.wustl.edu 37 6 90397136 90397136 + Nonsense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014611.1 -1 provisional p.R3793* 1.000 98 0% 82 45.1% 0 - - - - NULL GRIK2 2898 genome.wustl.edu 37 6 102247567 102247567 + Silent SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_021956.4 +1 reviewed p.V332 1.000 152 0% 249 23.7% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I FOXO3 2309 genome.wustl.edu 37 6 108985779 108985779 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001455.3 +1 reviewed p.Q581 1.000 372 0% 303 16.2% 2 0% - - - NULL ARMC2 84071 genome.wustl.edu 37 6 109282895 109282895 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032131.4 +1 validated p.E679G 1.000 109 0% 111 41.4% 0 - probably_damaging(0.996) tolerated(0.1) deleterious(0.748) superfamily_ARM-type_fold GPRC6A 222545 genome.wustl.edu 37 6 117114362 117114362 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_148963.2 -1 validated p.R575M 0.742 131 0% 210 40% 0 - possibly_damaging(0.91) deleterious(0.01) deleterious(0.768) NULL L3MBTL3 84456 genome.wustl.edu 37 6 130374065 130374065 + Silent SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032438.1 +1 validated p.R171 1.000 195 0% 227 15.9% 2 0% - - - NULL ENPP1 5167 genome.wustl.edu 37 6 132198279 132198279 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006208.2 +1 reviewed p.L624P 1.000 47 0% 50 20% 1 100% benign(0.004) tolerated(0.06) neutral(0.323) NULL VNN1 8876 genome.wustl.edu 37 6 133013434 133013434 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004666.2 -1 reviewed p.N372 0.286 296 0% 364 35.2% 0 - - - - NULL SLC2A12 154091 genome.wustl.edu 37 6 134350716 134350716 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_145176.2 -1 validated p.V83M 1.000 145 0% 165 38.8% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter MAP3K5 4217 genome.wustl.edu 37 6 137017134 137017134 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005923.3 -1 reviewed p.A346D 1.000 129 0% 179 35.8% 0 - possibly_damaging(0.877) deleterious(0.01) deleterious(0.747) NULL STX11 8676 genome.wustl.edu 37 6 144508153 144508153 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003764.3 +1 reviewed p.A130V 0.015 15 0% 17 41.2% 4 0% benign(0.027) tolerated(0.39) neutral(0.018) HMMPfam_Syntaxin,HMMSmart_SynN,superfamily_t-snare GRM1 2911 genome.wustl.edu 37 6 146755360 146755360 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000838.3 +1 reviewed p.A1005T 0.974 66 0% 91 17.6% 0 - benign(0.005) tolerated(0.17) neutral(0.059) NULL LATS1 9113 genome.wustl.edu 37 6 150004490 150004490 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004690.2 -1 reviewed p.P579S 0.012 286 0% 369 36.6% 2 0% benign(0) tolerated(0.94) - NULL SYNE1 23345 genome.wustl.edu 37 6 152831455 152831455 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_182961.2 -1 reviewed p.A152T 0.061 94 0% 112 43.8% 0 - benign(0) tolerated(0.83) neutral(0.001) superfamily_Calponin-homology domain CH-domain SYNJ2 8871 genome.wustl.edu 37 6 158507957 158507957 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003898.3 +1 reviewed p.S1093 1.000 36 0% 36 33.3% 1 0% - - - NULL RSPH3 83861 genome.wustl.edu 37 6 159399321 159399321 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_031924.4 -1 validated p.Y448C 0.003 47 0% 75 29.3% 2 50% probably_damaging(0.978) tolerated(0.07) deleterious(0.740) HMMPfam_Radial_spoke_3 TCP10L2 401285 genome.wustl.edu 37 6 167590622 167590622 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001145121.1 +1 inferred p.K166N 0.043 112 0% 127 22% 0 - possibly_damaging(0.889) deleterious(0.01) deleterious(0.755) NULL TCP10 6953 genome.wustl.edu 37 6 167791443 167791443 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004610.3 -1 validated p.K139N 0.043 234 0% 170 18.2% 0 - possibly_damaging(0.68) deleterious(0.01) deleterious(0.648) NULL MLLT4 4301 genome.wustl.edu 37 6 168352391 168352391 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001040001.1 +1 validated p.T1445A 0.001 157 0% 204 27% 16 37.5% benign(0) tolerated(1) - NULL PHF10 55274 genome.wustl.edu 37 6 170104123 170104123 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018288.3 -1 reviewed p.R491 1.000 48 0% 70 27.1% 18 44.4% - - - NULL FAM120B 84498 genome.wustl.edu 37 6 170627269 170627269 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032448.1 +1 provisional p.I264T 0.764 143 0% 187 27.3% 0 - probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL IQCE 23288 genome.wustl.edu 37 7 2629712 2629712 + Missense_Mutation SNP G G A rs113031380 TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152558.3 +1 validated p.A406T 0.000 23 0% 17 41.2% 0 - benign(0.159) tolerated(0.35) neutral(0.035) NULL GNA12 2768 genome.wustl.edu 37 7 2771199 2771199 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_007353.2 -1 validated p.S254 0.437 66 0% 60 55% 13 23% - - - HMMPfam_G-alpha,superfamily_SSF52540 WIPI2 26100 genome.wustl.edu 37 7 5257572 5257572 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015610.3 +1 validated p.P199L 1.000 228 0.4% 219 36.1% 17 35.2% possibly_damaging(0.659) tolerated(0.08) deleterious(0.532) HMMSmart_SM00320,superfamily_WD40 repeat-like AIMP2 7965 genome.wustl.edu 37 7 6054826 6054826 + Missense_Mutation SNP T T G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006303.3 +1 validated p.I62S 1.000 198 0% 131 41.2% 10 30% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL DAGLB 221955 genome.wustl.edu 37 7 6474500 6474500 + Missense_Mutation SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_139179.3 -1 validated p.S191C 0.590 266 0% 271 23.6% 1 0% probably_damaging(0.954) deleterious(0.03) deleterious(0.762) NULL NDUFA4 4697 genome.wustl.edu 37 7 10977773 10977773 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002489.2 -1 reviewed p.W45R 1.000 68 0% 66 33.3% 150 36.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NADH_ub_rd_NUML MACC1 346389 genome.wustl.edu 37 7 20199043 20199043 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_182762.3 -1 validated p.L314W 0.000 106 0% 118 35.6% 0 - possibly_damaging(0.758) deleterious(0.02) deleterious(0.663) NULL SP4 6671 genome.wustl.edu 37 7 21521639 21521639 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003112.3 +1 validated p.R669C 1.000 260 0% 392 41.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 AQP1 358 genome.wustl.edu 37 7 30961715 30961715 + Splice_Site SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000441328 +1 known e2-2 1.000 43 0% 33 36.4% 10 0% probably_damaging(0.999) tolerated(0.64) deleterious(0.493) - NEUROD6 63974 genome.wustl.edu 37 7 31378551 31378551 + Missense_Mutation SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_022728.2 -1 provisional p.N111I 1.000 420 0% 433 22.6% 0 - possibly_damaging(0.896) deleterious(0) deleterious(0.798) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain CCDC129 223075 genome.wustl.edu 37 7 31682355 31682355 + Missense_Mutation SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_194300.2 +1 validated p.D457E 0.001 147 0% 152 41.4% 0 - possibly_damaging(0.478) tolerated(0.67) neutral(0.161) NULL AEBP1 165 genome.wustl.edu 37 7 44153790 44153790 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001129.3 +1 reviewed p.E1136G 0.002 40 0% 36 36.1% 53 0% unknown(0) deleterious(0) - NULL SEC61G 23480 genome.wustl.edu 37 7 54823478 54823478 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001012456.1 -1 reviewed p.I64T 1.000 79 0% 74 29.7% 130 33% possibly_damaging(0.92) deleterious(0) deleterious(0.816) HMMPfam_SecE,superfamily_Preprotein translocase SecE subunit BAZ1B 9031 genome.wustl.edu 37 7 72912916 72912916 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032408.3 -1 validated p.S161N 1.000 519 0% 537 11.4% 2 0% probably_damaging(0.99) deleterious(0.05) deleterious(0.787) NULL PMS2P3 5387 genome.wustl.edu 37 7 75155293 75155293 + Splice_Site SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000301956 -1 known e3-1 0.026 135 0% 127 35.4% 0 - - - - - GNAI1 2770 genome.wustl.edu 37 7 79842162 79842162 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002069.5 +1 validated p.T284I 1.000 280 0% 327 20.5% 15 60% benign(0.032) deleterious(0.01) neutral(0.407) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases PCLO 27445 genome.wustl.edu 37 7 82580261 82580261 + Missense_Mutation SNP C C T rs75551727 byCluster;by1000genomes TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_033026.5 -1 validated p.D3215N 1.000 128 0% 200 48% 0 - probably_damaging(0.995) - - NULL CDK14 5218 genome.wustl.edu 37 7 90585092 90585092 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012395.2 +1 validated p.L285I 1.000 285 0% 497 33.8% 0 - benign(0.055) deleterious(0) neutral(0.448) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FZD1 8321 genome.wustl.edu 37 7 90894459 90894460 + In_Frame_Ins INS - - CCG novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003505.1 +1 reviewed p.92in_frame_insP 0.006:0.934 - - - - - - - - - NULL PEX1 5189 genome.wustl.edu 37 7 92148363 92148363 + Silent SNP T T G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000466.2 -1 reviewed p.V101 0.001 107 0% 135 19.3% 5 40% - - - superfamily_ADC-like SAMD9L 219285 genome.wustl.edu 37 7 92761093 92761093 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152703.2 -1 validated p.K1398E 0.717 718 0% 1263 11.7% 5 0% probably_damaging(0.985) tolerated(0.06) deleterious(0.754) NULL PON1 5444 genome.wustl.edu 37 7 94928374 94928374 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000446.5 -1 reviewed p.V317A 0.939 262 0% 306 41.5% 0 - possibly_damaging(0.59) deleterious(0) deleterious(0.648) superfamily_Calcium-dependent phosphotriesterase DLX5 1749 genome.wustl.edu 37 7 96650221 96650221 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005221.5 -1 reviewed p.L233F 1.000 45 0% 46 26.1% 403 49.3% benign(0.098) tolerated(0.49) neutral(0.018) NULL LMTK2 22853 genome.wustl.edu 37 7 97816303 97816303 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014916.3 +1 reviewed p.N331D 1.000 323 0% 298 10.4% 0 - probably_damaging(0.986) tolerated(0.36) neutral(0.455) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) TRRAP 8295 genome.wustl.edu 37 7 98506352 98506352 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003496.2 +1 validated p.P373S 1.000 4 0.000 7 0.571 0 - unknown(0) deleterious(0) - superfamily_ARM repeat TRRAP 8295 genome.wustl.edu 37 7 98574392 98574392 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003496.2 +1 validated p.Q2724R 1.000 49 0% 66 33.3% 4 50% benign(0.008) tolerated(0.35) neutral(0.021) superfamily_ARM repeat SMURF1 57154 genome.wustl.edu 37 7 98649897 98649897 + Nonsense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020429.1 -1 reviewed p.R218* 0.913 178 0% 144 21.5% 1 0% - - - NULL SMURF1 57154 genome.wustl.edu 37 7 98658236 98658236 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020429.1 -1 reviewed p.N63 0.997 50 0% 46 13% 2 0% - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ZNF789 285989 genome.wustl.edu 37 7 99084728 99084728 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_213603.2 +1 validated p.T299A 0.000 158 0% 136 32.4% 8 50% benign(0.085) tolerated(0.55) neutral(0.013) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF789 285989 genome.wustl.edu 37 7 99084993 99084993 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_213603.2 +1 validated p.H387R 0.978 328 0% 266 33.8% 1 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 ZKSCAN5 23660 genome.wustl.edu 37 7 99103802 99103802 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014569.3 +1 reviewed p.T45 0.000 216 0% 181 39.8% 0 - - - - HMMPfam_SCAN ZSCAN21 7589 genome.wustl.edu 37 7 99654858 99654858 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_145914.2 +1 validated p.E77K 0.993 44 0% 35 40% 2 50% possibly_damaging(0.776) deleterious(0.02) deleterious(0.672) HMMPfam_SCAN,HMMSmart_SM00431 CBLL1 79872 genome.wustl.edu 37 7 107398718 107398718 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_024814.2 +1 validated p.M191V 0.999 389 0% 590 34.9% 7 42.8% benign(0.07) tolerated(0.6) neutral(0.009) NULL POT1 25913 genome.wustl.edu 37 7 124475399 124475399 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015450.2 -1 reviewed p.H480R 0.000 287 0% 400 25% 2 50% benign(0) tolerated(0.83) neutral(0.001) NULL COPG2 26958 genome.wustl.edu 37 7 130147577 130147577 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012133.4 -1 validated p.I351M 0.988 87 0% 86 34.9% 20 25% benign(0) tolerated(0.37) neutral(0.019) NULL PLXNA4 91584 genome.wustl.edu 37 7 131864575 131864575 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020911.1 -1 validated p.L1249F 1.000 46 0% 26 34.6% 0 - possibly_damaging(0.944) deleterious(0.03) deleterious(0.753) NULL LUC7L2 51631 genome.wustl.edu 37 7 139094365 139094366 + Frame_Shift_Del DEL AG AG - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_016019.2 +1 validated p.R252fs 1.000:1.000 - - - - - - - - - HMMPfam_LUC7 TBXAS1 6916 genome.wustl.edu 37 7 139719853 139719853 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001061.4 +1 reviewed p.A520V 0.999 133 0% 146 16.4% 8 0% benign(0.056) tolerated(0.12) neutral(0.264) HMMPfam_p450,superfamily_Cytochrome P450 FAM131B 9715 genome.wustl.edu 37 7 143054034 143054034 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001031690.2 -1 validated p.A231V 1.000 44 0% 39 43.6% 1 0% possibly_damaging(0.786) tolerated(0.43) neutral(0.308) NULL ZNF786 136051 genome.wustl.edu 37 7 148768380 148768380 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152411.3 -1 validated p.M495T 0.000 8 0.000 15 0.533 5 80% benign(0.042) tolerated(0.62) neutral(0.007) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100288576 100288576 genome.wustl.edu 37 7 148963813 148963813 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 XM_002342804.1 -1 model p.A68V 0.860 133 0% 147 34.7% 0 - benign(0.001) tolerated(0.16) neutral(0.059) NULL ACTR3B 57180 genome.wustl.edu 37 7 152513583 152513583 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020445.4 +1 validated p.A150 0.121 19 0% 24 29.2% 4 50% - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain PAXIP1 22976 genome.wustl.edu 37 7 154785478 154785478 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_007349.3 -1 reviewed p.P73H 1.000 44 0% 59 20.3% 3 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_BRCT,superfamily_BRCT domain ZNF596 169270 genome.wustl.edu 37 8 196207 196207 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001042415.1 +1 validated p.K454E 0.871 187 0% 199 11.1% 2 0% benign(0.085) deleterious(0.02) neutral(0.389) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 CSMD1 64478 genome.wustl.edu 37 8 2876123 2876123 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_033225.5 -1 validated p.G2636 0.677 336 0% 318 28% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain OR7E8P 346708 genome.wustl.edu 37 8 12542458 12542458 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000317826 -1 known p.D77N 0.682 54 0% 54 29.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 LZTS1 11178 genome.wustl.edu 37 8 20107427 20107427 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_021020.2 -1 reviewed p.K533E 0.995 25 0% 43 30.2% 0 - benign(0.014) tolerated(0.76) neutral(0.002) HMMPfam_Fez1 HR 55806 genome.wustl.edu 37 8 21984755 21984755 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005144.4 -1 reviewed p.V400 0.000 14 0% 14 50% 0 - - - - NULL EBF2 64641 genome.wustl.edu 37 8 25744346 25744346 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_022659.2 -1 validated p.G312C 1.000 132 0% 152 34.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TIG,HMMSmart_IPT,superfamily_Ig_E-set ADRA1A 148 genome.wustl.edu 37 8 26722280 26722280 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_033303.3 -1 reviewed p.A69 0.278 82 0% 69 43.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 WHSC1L1 54904 genome.wustl.edu 37 8 38187309 38187309 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_023034.1 -1 reviewed p.Y390H 1.000 162 0% 149 32.9% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Tudor/PWWP/MBT ADAM18 8749 genome.wustl.edu 37 8 39502951 39502951 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014237.1 +1 reviewed p.C335Y 0.669 113 0% 199 24.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" PRKDC 5591 genome.wustl.edu 37 8 48719714 48719714 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000314191 -1 known p.D3243G 0.948 104 0% 82 36.6% 4 0% benign(0.196) deleterious(0.03) neutral(0.383) HMMPfam_FAT PRKDC 5591 genome.wustl.edu 37 8 48840392 48840392 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000314191 -1 known p.L733P 0.982 49 0% 76 30.3% 0 - benign(0.355) deleterious(0) deleterious(0.557) superfamily_ARM repeat TOX 9760 genome.wustl.edu 37 8 59764337 59764337 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014729.2 -1 reviewed p.T147A 0.002 158 0% 226 19.5% 1 0% benign(0) tolerated(0.34) neutral(0.023) NULL CA8 767 genome.wustl.edu 37 8 61144862 61144862 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004056.4 -1 reviewed p.I165S 1.000 253 0% 340 17.6% 7 42.8% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase C8orf34 116328 genome.wustl.edu 37 8 69358654 69358654 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_052958.1 +1 predicted p.A78V 1.000 182 0% 322 38.2% 2 50% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL SLCO5A1 81796 genome.wustl.edu 37 8 70744829 70744829 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_030958.2 -1 reviewed p.R27M 0.000 30 0% 35 17.1% 0 - possibly_damaging(0.502) deleterious(0.04) deleterious(0.516) NULL NCOA2 10499 genome.wustl.edu 37 8 71036305 71036305 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006540.2 -1 validated p.Q1369 0.994 32 0% 26 42.3% 4 0% - - - NULL NCOA2 10499 genome.wustl.edu 37 8 71041001 71041001 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006540.2 -1 validated p.G1180D 1.000 167 0% 220 41.4% 3 100% probably_damaging(0.98) tolerated(0.06) deleterious(0.746) NULL LY96 23643 genome.wustl.edu 37 8 74903756 74903756 + Missense_Mutation SNP T T G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015364.3 +1 validated p.S27A 0.979 441 0% 543 37.8% 2 0% possibly_damaging(0.486) deleterious(0) deleterious(0.606) NULL RIPK2 8767 genome.wustl.edu 37 8 90777651 90777651 + Missense_Mutation SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003821.5 +1 reviewed p.N137I 1.000 297 0% 380 40.5% 11 36.3% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RUNX1T1 862 genome.wustl.edu 37 8 92972532 92972532 + Missense_Mutation SNP C C G rs57930555 TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_175634.1 -1 reviewed p.A585P 1.000 31 0% 32 18.8% 0 - unknown(0) tolerated(0.21) - NULL POP1 10940 genome.wustl.edu 37 8 99170095 99170095 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015029.2 +1 reviewed p.H891Y 0.005 220 0% 227 35.7% 1 0% benign(0.317) tolerated(1) neutral(0.099) NULL VPS13B 157680 genome.wustl.edu 37 8 100123423 100123423 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_017890.3 +1 reviewed p.D226 0.999 326 0.3% 392 25.3% 1 0% - - - NULL FZD6 8323 genome.wustl.edu 37 8 104337530 104337530 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003506.3 +1 reviewed p.V399A 0.995 383 0% 573 38.6% 9 22.2% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Frizzled DCAF13 25879 genome.wustl.edu 37 8 104432505 104432505 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015420.6 +1 validated p.Y180 1.000 70 0% 65 16.9% 4 25% - - - superfamily_WD40_like RIMS2 9699 genome.wustl.edu 37 8 104940075 104940075 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001100117.1 +1 validated p.Q734H 1.000 37 0% 36 25% 0 - possibly_damaging(0.798) tolerated(0.35) neutral(0.321) NULL COL14A1 7373 genome.wustl.edu 37 8 121262980 121262980 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_021110.1 +1 validated p.D909 0.488 165 0% 126 35.7% 4 25% - - - superfamily_Fibronectin type III DERL1 79139 genome.wustl.edu 37 8 124031490 124031490 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_024295.4 -1 validated p.F188V 1.000 92 0% 76 32.9% 13 38.4% possibly_damaging(0.919) deleterious(0.01) deleterious(0.775) HMMPfam_DER1 LOC100289165 100289165 genome.wustl.edu 37 8 124658060 124658060 + Nonsense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 XM_002342868.1 +1 model p.G78* 1.000 148 0% 156 24.4% 0 - - - - NULL LRRC6 23639 genome.wustl.edu 37 8 133627323 133627323 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012472.3 -1 provisional p.D312G 1.000 227 0% 211 12.8% 0 - possibly_damaging(0.694) tolerated(0.07) deleterious(0.568) NULL WISP1 8840 genome.wustl.edu 37 8 134239938 134239938 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003882.2 +1 reviewed p.S363 0.204 56 0% 48 10.4% 0 - - - - HMMPfam_Cys_knot COL22A1 169044 genome.wustl.edu 37 8 139601592 139601592 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000341807 -1 known p.P824S 0.722 37 0% 37 35.1% 0 - - - - HMMPfam_Collagen EIF2C2 27161 genome.wustl.edu 37 8 141542517 141542517 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012154.3 -1 reviewed p.T816I 0.998 24 0% 18 27.8% 1 100% - - - NULL DOCK8 81704 genome.wustl.edu 37 9 396912 396912 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_203447.3 +1 reviewed p.A965V 1.000 99 0% 92 32.6% 7 28.5% benign(0.124) tolerated(0.3) neutral(0.038) NULL KIAA2026 158358 genome.wustl.edu 37 9 5944905 5944905 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001017969.2 -1 validated p.E783G 1.000 21 0% 29 27.6% 2 0% possibly_damaging(0.875) - - NULL KIAA2026 158358 genome.wustl.edu 37 9 5968374 5968374 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001017969.2 -1 validated p.Y619 0.991 254 0.4% 365 24.9% 2 100% - - - NULL KIAA2026 158358 genome.wustl.edu 37 9 6007565 6007565 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001017969.2 -1 validated p.L75 0.998 14 0% 20 40% 1 0% - - - NULL MPDZ 8777 genome.wustl.edu 37 9 13109031 13109031 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003829.3 -1 validated p.L1961 0.938 25 0% 37 16.2% 5 0% - - - HMMPfam_PDZ,superfamily_PDZ domain-like MPDZ 8777 genome.wustl.edu 37 9 13186353 13186353 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003829.3 -1 validated p.K799 1.000 24 0% 33 42.4% 1 0% - - - superfamily_PDZ domain-like PSIP1 11168 genome.wustl.edu 37 9 15472718 15472718 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001128217.1 -1 validated p.A297T 0.938 221 0% 315 37.8% 14 28.5% benign(0.036) tolerated(0.12) neutral(0.263) NULL LOC402360 402360 genome.wustl.edu 37 9 23682506 23682506 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 XM_002342894.1 +1 model p.D183N 0.435 14 0% 13 53.8% 0 - - - - NULL SIT1 27240 genome.wustl.edu 37 9 35650186 35650186 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014450.2 -1 validated p.A118T 0.012 87 0% 86 34.9% 8 0% possibly_damaging(0.793) deleterious(0.03) deleterious(0.662) NULL FRMPD1 22844 genome.wustl.edu 37 9 37746073 37746073 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014907.2 +1 validated p.Q1348 0.978 121 0% 122 43.4% 0 - - - - NULL RG9MTD3 158234 genome.wustl.edu 37 9 37777669 37777669 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_144964.2 +1 validated p.G306R 0.967 86 0% 89 18% 5 0% benign(0.003) tolerated(0.97) - HMMPfam_tRNA_m1G_MT PTAR1 375743 genome.wustl.edu 37 9 72338359 72338359 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001099666.1 -1 validated p.A277E 0.025 259 0% 435 27.8% 0 - benign(0) tolerated(0.71) neutral(0.002) superfamily_Prenyl_trans TMEM2 23670 genome.wustl.edu 37 9 74365098 74365098 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_013390.2 -1 validated p.P64 0.368 107 0% 147 40.1% 0 - - - - NULL GNAQ 2776 genome.wustl.edu 37 9 80336387 80336387 + Missense_Mutation SNP T T G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002072.2 -1 provisional p.K311T 1.000 98 0% 140 33.6% 1 0% benign(0.001) tolerated(0.39) neutral(0.016) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases C9orf170 401535 genome.wustl.edu 37 9 89771650 89771650 + Silent SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001001709.2 +1 validated p.R111 0.000 178 0% 203 10.8% 0 - - - - NULL DAPK1 1612 genome.wustl.edu 37 9 90321260 90321260 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004938.2 +1 reviewed p.A1092T 0.997 31 0% 21 47.6% 31 35.4% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL FAM22G 441457 genome.wustl.edu 37 9 99694590 99694591 + Frame_Shift_Ins INS - - A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001045477.2 +1 validated p.P202fs 0.004:0.003 - - - - - - - - - NULL HEMGN 55363 genome.wustl.edu 37 9 100692762 100692762 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018437.3 -1 validated p.A305 0.960 377 0.3% 340 16.8% 0 - - - - NULL ACTL7B 10880 genome.wustl.edu 37 9 111617182 111617182 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006686.3 -1 reviewed p.G343 0.809 26 0% 23 39.1% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain DNAJC25 548645 genome.wustl.edu 37 9 114411752 114411752 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001015882.2 +1 provisional p.S170I 1.000 38 0% 53 13.2% 2 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL PRPF4 9128 genome.wustl.edu 37 9 116041388 116041388 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004697.3 +1 provisional p.E124 1.000 281 0% 259 21.2% 0 - - - - HMMSmart_SM00500,HMMPfam_PRP4 PRPF4 9128 genome.wustl.edu 37 9 116053083 116053083 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004697.3 +1 provisional p.N418D 1.000 185 0% 141 24.8% 12 8.3% benign(0.172) tolerated(0.57) neutral(0.021) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 TNC 3371 genome.wustl.edu 37 9 117848846 117848846 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002160.2 -1 validated p.V388 0.000 91 0% 95 32.6% 1 100% - - - HMMSmart_EGF,HMMPfam_EGF_2 CNTRL 11064 genome.wustl.edu 37 9 123860757 123860757 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_007018.4 +1 reviewed p.F239L 1.000 189 0% 236 30.9% 2 0% possibly_damaging(0.808) deleterious(0) deleterious(0.748) superfamily_L domain-like NDUFA8 4702 genome.wustl.edu 37 9 124914576 124914576 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014222.2 -1 reviewed p.R55W 1.000 200 0% 192 32.3% 27 33.3% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_CHCH RABGAP1 23637 genome.wustl.edu 37 9 125852094 125852094 + Nonsense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012197.3 +1 validated p.Q828* 1.000 191 0% 207 18.8% 3 0% - - - NULL GOLGA1 2800 genome.wustl.edu 37 9 127643480 127643482 + In_Frame_Del DEL CTC CTC - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002077.3 -1 reviewed p.E731in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_GRIP,HMMSmart_SM00755 ABL1 25 genome.wustl.edu 37 9 133755920 133755920 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_007313.2 +1 reviewed p.R535H 0.995 37 0% 32 25% 13 38.4% possibly_damaging(0.938) deleterious(0.03) deleterious(0.748) NULL NUP214 8021 genome.wustl.edu 37 9 134027196 134027196 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005085.2 +1 reviewed p.E784G 0.998 111 0% 125 42.4% 3 33.3% probably_damaging(0.996) tolerated(0.08) deleterious(0.762) NULL SETX 23064 genome.wustl.edu 37 9 135139703 135139703 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015046.5 -1 reviewed p.T2653A 0.000 281 0% 278 14.7% 12 0% benign(0) tolerated(1) - NULL SURF1 6834 genome.wustl.edu 37 9 136220672 136220672 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003172.2 -1 reviewed p.G149 0.013 27 0% 33 36.4% 32 53.1% - - - HMMPfam_SURF1 SEC16A 9919 genome.wustl.edu 37 9 139358149 139358149 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014866.1 -1 validated p.F1497S 1.000 28 0% 35 28.6% 8 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1984 84960 genome.wustl.edu 37 9 139699011 139699011 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000479371 +1 known p.P241Q 0.998 17 0% 12 83.3% 3 66.6% unknown(0) - - NULL CACNA1B 774 genome.wustl.edu 37 9 140995611 140995611 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000413253 +1 known p.R124H 1.000 75 0% 29 31% 0 - benign(0) deleterious(0) neutral(0.445) NULL AKR1C1 1645 genome.wustl.edu 37 10 5014844 5014844 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001353.5 +1 reviewed p.R250Q 0.059 111 0% 96 20.8% 3 0% benign(0.005) tolerated(0.13) neutral(0.253) HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red SEPHS1 22929 genome.wustl.edu 37 10 13386834 13386834 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012247.3 -1 reviewed p.Q39 1.000 181 0% 205 41.5% 7 28.5% - - - NULL ITGA8 8516 genome.wustl.edu 37 10 15688923 15688923 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003638.1 -1 provisional p.L377I 0.993 83 0% 97 37.1% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_Int_alpha,superfamily_SSF69318 ARMC3 219681 genome.wustl.edu 37 10 23287212 23287212 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_173081.3 +1 validated p.N437 0.043 70 0% 73 16.4% 2 0% - - - superfamily_ARM repeat MYO3A 53904 genome.wustl.edu 37 10 26446417 26446417 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_017433.4 +1 reviewed p.R991Q 1.000 186 0.5% 179 24% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 APBB1IP 54518 genome.wustl.edu 37 10 26825128 26825128 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_019043.3 +1 validated p.V342 0.207 454 0% 390 39.5% 5 0% - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 SVIL 6840 genome.wustl.edu 37 10 29821909 29821910 + Frame_Shift_Ins INS - - A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_021738.2 -1 reviewed p.G462fs 0.001:0.000 - - - - - - - - - NULL ZNF25 219749 genome.wustl.edu 37 10 38241737 38241737 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_145011.2 -1 provisional p.F230S 0.003 337 0% 287 27.9% 0 - benign(0.299) deleterious(0) deleterious(0.537) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF25 219749 genome.wustl.edu 37 10 38242018 38242018 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_145011.2 -1 provisional p.H136 0.624 319 0% 282 21.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ASAH2C 653365 genome.wustl.edu 37 10 48007144 48007144 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000426610 -1 known p.K524E 1.000 326 0% 544 33.5% 0 - benign(0.07) deleterious(0) neutral(0.450) HMMPfam_Ceramidase_alk GDF2 2658 genome.wustl.edu 37 10 48413849 48413849 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_016204.1 -1 reviewed p.G340D 1.000 31 0% 17 41.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGF_beta,HMMSmart_SM00204,superfamily_Cystine-knot cytokines GDF10 2662 genome.wustl.edu 37 10 48428670 48428670 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004962.2 -1 reviewed p.A406T 0.994 57 1.8% 56 32.1% 0 - benign(0.021) deleterious(0.03) neutral(0.365) HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1,superfamily_Cystine-knot cytokines OGDHL 55753 genome.wustl.edu 37 10 50954894 50954894 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018245.2 -1 validated p.A400T 1.000 29 0% 29 41.4% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_E1_dh,superfamily_SSF52518 PHYHIPL 84457 genome.wustl.edu 37 10 60994087 60994087 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032439.3 +1 validated p.I44V 1.000 236 0% 281 37.7% 0 - benign(0) tolerated(0.63) neutral(0.004) NULL JMJD1C 221037 genome.wustl.edu 37 10 64958378 64958378 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032776.1 -1 validated p.E1796K 1.000 227 0% 291 22.7% 2 50% benign(0.148) tolerated(0.14) neutral(0.263) NULL MYPN 84665 genome.wustl.edu 37 10 69966570 69966570 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032578.2 +1 validated p.P1235S 1.000 349 0% 398 43% 0 - probably_damaging(1) tolerated(1) deleterious(0.500) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin DDX21 9188 genome.wustl.edu 37 10 70719894 70719894 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004728.2 +1 reviewed p.N140 1.000 152 0.7% 229 21% 3 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases LRRC20 55222 genome.wustl.edu 37 10 72061181 72061181 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_207119.1 -1 validated p.V162M 0.998 19 0% 43 37.2% 0 - benign(0.156) tolerated(0.2) neutral(0.063) NULL PRF1 5551 genome.wustl.edu 37 10 72358192 72358192 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001083116.1 -1 reviewed p.G429W 1.000 56 0% 43 48.8% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) C10orf27 219793 genome.wustl.edu 37 10 72541722 72541722 + Nonsense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152710.2 -1 validated p.Q38* 0.546 63 0% 53 41.5% 0 - - - - NULL UNC5B 219699 genome.wustl.edu 37 10 73039668 73039668 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_170744.3 +1 validated p.A57V 1.000 42 0% 38 39.5% 0 - probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMSmart_SM00409,superfamily_Immunoglobulin CDH23 64072 genome.wustl.edu 37 10 73544069 73544069 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_022124.5 +1 reviewed p.E1798D 0.842 89 0% 83 13.3% 0 - probably_damaging(0.995) tolerated(0.46) deleterious(0.470) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like USP54 159195 genome.wustl.edu 37 10 75289572 75289572 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000424265 -1 known p.A440T 0.389 135 0% 108 44.4% 0 - - - - NULL ENSG00000242288 0 genome.wustl.edu 37 10 75488346 75488346 + Splice_Site SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000399449 -1 known NULL 0.178 55 0% 54 46.3% 0 - - - - - KIAA0913 23053 genome.wustl.edu 37 10 75559936 75559936 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000412198 +1 known p.C881Y 0.998 52 0% 49 14.3% 9 0% - - - NULL AP3M1 26985 genome.wustl.edu 37 10 75893792 75893792 + Missense_Mutation SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012095.4 -1 reviewed p.D192E 1.000 65 0% 62 25.8% 2 50% benign(0.022) deleterious(0.01) neutral(0.407) HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor ZMIZ1 57178 genome.wustl.edu 37 10 81053452 81053452 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000372347 +1 known p.T377 0.000 15 0% 22 27.3% 0 - - - - NULL EIF5AL1 143244 genome.wustl.edu 37 10 81272591 81272591 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001099692.1 +1 validated p.D62 1.000 115 0% 107 25.2% 54 0% - - - superfamily_Transl_SH3_like LDB3 11155 genome.wustl.edu 37 10 88439174 88439174 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_007078.2 +1 reviewed p.L48 0.010 66 0% 31 32.3% 0 - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like PTEN 5728 genome.wustl.edu 37 10 89624274 89624275 + Frame_Shift_Del DEL TC TC - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000371953 +1 known p.Y16fs 1.000:1.000 - - - - - - - - - superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89692965 89692966 + Frame_Shift_Ins INS - - GGCCCTAG novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000371953 +1 known p.D153fs 1.000:1.000 - - - - - - - - - HMMPfam_DSPc,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II KIF20B 9585 genome.wustl.edu 37 10 91497200 91497200 + Nonsense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_016195.2 +1 validated p.R828* 0.020 200 0% 216 38.9% 0 - - - - NULL TNKS2 80351 genome.wustl.edu 37 10 93602108 93602108 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_025235.3 +1 validated p.R673 0.981 134 0% 96 38.5% 3 0% - - - superfamily_ANK CYP26A1 1592 genome.wustl.edu 37 10 94834815 94834815 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000783.3 +1 reviewed p.G232R 1.000 12 0% 20 35% 3 33.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_p450,superfamily_Cytochrome_P450 MYOF 26509 genome.wustl.edu 37 10 95093068 95093068 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_013451.3 -1 reviewed p.C1574Y 1.000 80 0% 57 45.6% 25 20% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ENTPD1 953 genome.wustl.edu 37 10 97583121 97583121 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001098175.1 +1 validated p.V44I 1.000 110 0% 112 19.6% 6 0% - - - NULL TM9SF3 56889 genome.wustl.edu 37 10 98287856 98287856 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020123.3 -1 validated p.L491 0.999 237 0% 349 23.8% 13 53.8% - - - HMMPfam_EMP70 C10orf28 27291 genome.wustl.edu 37 10 99968698 99968698 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014472.4 +1 validated p.V276A 0.004 221 0% 263 13.3% 0 - benign(0.022) tolerated(0.35) neutral(0.022) NULL CWF19L1 55280 genome.wustl.edu 37 10 102016041 102016041 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018294.4 -1 validated p.V161A 1.000 354 0% 229 38.4% 0 - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) NULL BTRC 8945 genome.wustl.edu 37 10 103294633 103294633 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_033637.2 +1 reviewed p.Y438C 1.000 233 0% 305 36.4% 5 40% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CALHM2 51063 genome.wustl.edu 37 10 105209569 105209569 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015916.4 -1 validated p.F44V 1.000 25 4% 24 41.7% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SLK 9748 genome.wustl.edu 37 10 105762539 105762539 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014720.2 +1 provisional p.D535N 0.051 177 0% 161 40.4% 1 0% benign(0) tolerated(0.2) neutral(0.049) superfamily_Protein kinase-like (PK-like) DUSP5 1847 genome.wustl.edu 37 10 112269927 112269927 + Missense_Mutation SNP G G C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004419.3 +1 reviewed p.V300L 0.915 77 0% 72 25% 7 0% benign(0.005) deleterious(0.01) neutral(0.406) HMMPfam_DSPc,HMMSmart_DSPc,superfamily_SSF52799 TCF7L2 6934 genome.wustl.edu 37 10 114901060 114901060 + Missense_Mutation SNP G G A rs190966900 by1000genomes TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_030756.4 +1 reviewed p.V201I 1.000 194 0% 191 41.4% 1 0% benign(0.176) tolerated(0.56) neutral(0.022) HMMPfam_CTNNB1_binding TRUB1 142940 genome.wustl.edu 37 10 116734979 116734979 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_139169.4 +1 validated p.I297 0.999 321 0% 584 14.7% 0 - - - - superfamily_PsdUridine_synth_cat_dom ATRNL1 26033 genome.wustl.edu 37 10 117221514 117221514 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_207303.2 +1 validated p.T1129I 1.000 95 0% 186 29% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL INPP5F 22876 genome.wustl.edu 37 10 121565908 121565908 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014937.2 +1 reviewed p.G452 0.871 44 0% 42 45.2% 0 - - - - NULL FGFR2 2263 genome.wustl.edu 37 10 123274773 123274773 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_022970.3 -1 reviewed p.C383Y 1.000 119 0% 128 25.8% 10 40% benign(0.177) deleterious(0) neutral(0.461) NULL C10orf137 26098 genome.wustl.edu 37 10 127414334 127414334 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015608.2 +1 validated p.S240L 0.018 70 0% 79 46.8% 1 0% benign(0.055) tolerated(0.27) neutral(0.037) NULL DOCK1 1793 genome.wustl.edu 37 10 129237360 129237360 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000398025 +1 known p.D1755 0.012 16 0% 22 45.5% 11 27.2% - - - NULL MKI67 4288 genome.wustl.edu 37 10 129906338 129906338 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002417.4 -1 reviewed p.S1256P 0.000 398 0.8% 352 42% 1 0% benign(0) tolerated(0.93) - HMMPfam_K167R KNDC1 85442 genome.wustl.edu 37 10 135026384 135026384 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152643.6 +1 validated p.Y1467 1.000 15 0% 14 28.6% 0 - - - - HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF TUBGCP2 10844 genome.wustl.edu 37 10 135103421 135103421 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006659.2 -1 validated p.Y423H 1.000 25 0% 26 15.4% 12 0% probably_damaging(0.991) deleterious(0.04) deleterious(0.793) HMMPfam_Spc97_Spc98 RRM1 6240 genome.wustl.edu 37 11 4142938 4142938 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001033.3 +1 reviewed p.D327 0.999 174 0% 201 37.3% 9 77.7% - - - HMMPfam_Ribonuc_red_lgC,superfamily_SSF51998 OR51L1 119682 genome.wustl.edu 37 11 5020893 5020893 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001004755.1 +1 provisional p.V227 0.692 186 0% 182 40.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 SMPD1 6609 genome.wustl.edu 37 11 6414606 6414606 + Nonsense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000543.3 +1 reviewed p.R418* 0.990 32 0% 34 47.1% 14 7.1% - - - HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases DENND5A 23258 genome.wustl.edu 37 11 9225402 9225402 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015213.2 -1 validated p.P252S 1.000 91 0% 87 14.9% 2 0% probably_damaging(1) tolerated(0.35) deleterious(0.520) HMMPfam_DENN,HMMSmart_SM00799 ABCC8 6833 genome.wustl.edu 37 11 17428439 17428439 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000352.3 -1 reviewed p.S1053I 0.463 88 0% 53 30.2% 0 - benign(0.002) tolerated(0.11) neutral(0.272) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain TSG101 7251 genome.wustl.edu 37 11 18505510 18505510 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006292.2 -1 reviewed p.Q250H 1.000 499 0% 657 40.3% 41 29.2% probably_damaging(0.996) tolerated(0.07) deleterious(0.780) HMMSmart_SM00212 IGSF22 283284 genome.wustl.edu 37 11 18732263 18732263 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_173588.3 -1 validated p.I736 0.932 113 0% 77 10.4% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like E2F8 79733 genome.wustl.edu 37 11 19251184 19251184 + Silent SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_024680.2 -1 validated p.T570 0.002 139 0% 109 16.5% 0 - - - - NULL SLC5A12 159963 genome.wustl.edu 37 11 26705327 26705327 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_178498.3 -1 validated p.V429M 0.000 20 0% 27 44.4% 0 - benign(0.01) - - NULL LIN7C 55327 genome.wustl.edu 37 11 27521015 27521015 + Missense_Mutation SNP C C G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018362.3 -1 validated p.G110A 1.000 156 0% 208 16.3% 1 100% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like LIN7C 55327 genome.wustl.edu 37 11 27521091 27521091 + Missense_Mutation SNP T T G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018362.3 -1 validated p.S85R 1.000 181 0% 199 15.6% 0 - probably_damaging(0.99) deleterious(0.04) deleterious(0.790) superfamily_PDZ domain-like QSER1 79832 genome.wustl.edu 37 11 32994999 32994999 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001076786.1 +1 provisional p.K1625N 1.000 73 0% 107 36.4% 0 - probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL ACCS 84680 genome.wustl.edu 37 11 44100311 44100311 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001127219.1 +1 validated p.Q270 0.538 103 0% 59 47.5% 3 66.6% - - - HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major PEX16 9409 genome.wustl.edu 37 11 45935882 45935882 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_057174.2 -1 reviewed p.R227W 1.000 16 0% 19 52.6% 38 39.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pex16 CHRM4 1132 genome.wustl.edu 37 11 46406731 46406731 + Silent SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000741.2 -1 reviewed p.T459 0.999 6 0.000 10 0.800 0 - - - - superfamily_Family A G protein-coupled receptor-like HARBI1 283254 genome.wustl.edu 37 11 46637143 46637143 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_173811.3 -1 validated p.G215 0.645 200 0% 159 22.6% 6 33.3% - - - NULL LRP4 4038 genome.wustl.edu 37 11 46917556 46917556 + Silent SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002334.3 -1 reviewed p.G354 0.993 53 0% 38 10.5% 2 0% - - - superfamily_LDL receptor-like module LOC120824 120824 genome.wustl.edu 37 11 49003214 49003214 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 XM_062300.6 -1 model p.E12K 0.999 243 0% 274 33.2% 0 - - - - superfamily_RING/U-box OR4P4 81300 genome.wustl.edu 37 11 55405980 55405980 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001004124.1 +1 provisional p.C49 0.000 485 0.2% 688 39.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR10W1 81341 genome.wustl.edu 37 11 58035011 58035011 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_207374.3 -1 validated p.A107V 0.705 130 0% 185 46.5% 0 - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 FAM111B 374393 genome.wustl.edu 37 11 58892671 58892671 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_198947.3 +1 validated p.R367 0.000 400 0.3% 421 23.8% 0 - - - - NULL EEF1G 1937 genome.wustl.edu 37 11 62340139 62340139 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001404.4 -1 reviewed p.R30C 1.000 104 0% 67 37.3% 451 41% benign(0.024) deleterious(0) neutral(0.446) HMMPfam_GST_N,superfamily_Thioredoxin-like CATSPER1 117144 genome.wustl.edu 37 11 65793187 65793187 + Nonsense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_053054.3 -1 reviewed p.Q222* 0.000 27 0% 20 40% 0 - - - - superfamily_Voltage-gated potassium channels B3GNT1 11041 genome.wustl.edu 37 11 66113662 66113662 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006876.2 -1 reviewed p.G369D 1.000 71 0% 86 14% 16 12.5% possibly_damaging(0.904) deleterious(0.01) deleterious(0.764) NULL CCND1 595 genome.wustl.edu 37 11 69462905 69462905 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_053056.2 +1 reviewed p.D240N 1.000 13 0% 16 37.5% 6 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cyclin_C,superfamily_Cyclin-like LOC100131539 100131539 genome.wustl.edu 37 11 71527939 71527939 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 XM_001723234.2 -1 model p.C174 0.005 401 0% 460 38.3% 0 - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers P2RY6 5031 genome.wustl.edu 37 11 73007797 73007797 + Silent SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004154.3 +1 reviewed p.S78 1.000 101 0% 100 33% 1 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 DNAJB13 374407 genome.wustl.edu 37 11 73676079 73676079 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_153614.2 +1 provisional p.R164M 1.000 112 0% 98 39.8% 5 60% probably_damaging(0.998) tolerated(0.31) deleterious(0.501) superfamily_HSP40/DnaJ peptide-binding domain XRRA1 143570 genome.wustl.edu 37 11 74559458 74559458 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_182969.1 -1 validated p.H469R 0.000 16 0% 29 17.2% 0 - probably_damaging(0.959) tolerated(0.1) deleterious(0.689) NULL OR2AT4 341152 genome.wustl.edu 37 11 74800475 74800475 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001005285.1 -1 provisional p.R95H 0.102 127 0% 152 36.2% 0 - benign(0.002) tolerated(0.17) neutral(0.059) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ODZ4 26011 genome.wustl.edu 37 11 78369608 78369608 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001098816.2 -1 validated p.H2602R 1.000 41 0% 43 14% 0 - benign(0.017) tolerated(0.34) neutral(0.024) NULL ODZ4 26011 genome.wustl.edu 37 11 78380999 78380999 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001098816.2 -1 validated p.N2131D 1.000 37 0% 45 33.3% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ME3 10873 genome.wustl.edu 37 11 86157429 86157429 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001014811.1 -1 reviewed p.P494L 1.000 72 0% 90 40% 9 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Malic_M,superfamily_NAD(P)-bd FAT3 120114 genome.wustl.edu 37 11 92577265 92577265 + Nonsense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001008781.2 +1 validated p.Q3578* 1.000 213 0% 176 32.4% 0 - - - - HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like CCDC82 79780 genome.wustl.edu 37 11 96092310 96092310 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_024725.3 -1 validated p.R471 0.919 202 0% 205 23.4% 3 66.6% - - - NULL DYNC2H1 79659 genome.wustl.edu 37 11 103126238 103126238 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001080463.1 +1 reviewed p.A3441V 1.000 15 0% 27 51.9% 1 0% possibly_damaging(0.813) deleterious(0.04) deleterious(0.656) NULL NPAT 4863 genome.wustl.edu 37 11 108031838 108031838 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002519.2 -1 validated p.E1325 0.994 97 0% 142 14.1% 2 0% - - - NULL ATM 472 genome.wustl.edu 37 11 108119672 108119672 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000051.3 +1 reviewed p.D360Y 1.000 110 0% 90 23.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_ARM repeat EXPH5 23086 genome.wustl.edu 37 11 108384505 108384505 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015065.2 -1 validated p.F577L 0.656 160 0% 222 12.6% 0 - benign(0.008) deleterious(0) neutral(0.445) NULL CADM1 23705 genome.wustl.edu 37 11 115099935 115099935 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014333.3 -1 validated p.L207 1.000 143 0% 152 11.2% 31 3.2% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin SORL1 6653 genome.wustl.edu 37 11 121391560 121391560 + Splice_Site SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003105.4 +1 reviewed e9+2 1.000 110 0% 116 21.6% 0 - - - - - OR8G5 219865 genome.wustl.edu 37 11 124135588 124135588 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001005198.1 +1 provisional p.S289F 0.257 202 0% 333 39.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ST14 6768 genome.wustl.edu 37 11 130058825 130058825 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_021978.3 +1 reviewed p.T144M 0.791 8 0.000 9 0.556 39 41% probably_damaging(0.981) deleterious(0.02) deleterious(0.808) HMMPfam_SEA,superfamily_SSF82671 CCDC77 84318 genome.wustl.edu 37 12 551007 551007 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032358.3 +1 validated p.R463Q 0.551 328 0% 281 40.9% 3 66.6% benign(0.155) tolerated(0.06) neutral(0.336) NULL CACNA2D4 93589 genome.wustl.edu 37 12 1995486 1995486 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_172364.4 -1 reviewed p.S299I 1.000 68 0% 80 20% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like CACNA1C 775 genome.wustl.edu 37 12 2760845 2760845 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_199460.2 +1 reviewed p.R1377C 1.000 55 0% 55 47.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels PARP11 57097 genome.wustl.edu 37 12 3931303 3931303 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020367.4 -1 validated p.A122V 0.998 133 0% 115 27.8% 1 100% benign(0.273) tolerated(0.22) neutral(0.071) NULL AKAP3 10566 genome.wustl.edu 37 12 4736021 4736021 + Missense_Mutation SNP T T G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006422.2 -1 reviewed p.I683L 1.000 158 0% 152 21.7% 0 - possibly_damaging(0.754) deleterious(0) deleterious(0.723) HMMPfam_AKAP_110,HMMSmart_SM00807 CD27 939 genome.wustl.edu 37 12 6559464 6559464 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001242.4 +1 reviewed p.S132P 0.001 109 0% 72 13.9% 24 0% benign(0) tolerated(1) - NULL C12orf53 196500 genome.wustl.edu 37 12 6804738 6804738 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_153685.2 -1 predicted p.T229A 1.000 82 0% 74 21.6% 0 - unknown(0) deleterious(0) - NULL PHB2 11331 genome.wustl.edu 37 12 7079403 7079403 + Silent SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001144831.1 -1 validated p.G56 0.597 90 0% 71 22.5% 57 22.8% - - - HMMPfam_Band_7,HMMSmart_SM00244 C1R 715 genome.wustl.edu 37 12 7187873 7187873 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000290575 -1 known p.V708G 1.000 147 0% 114 14.9% 57 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases DPPA3 359787 genome.wustl.edu 37 12 7869588 7869588 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_199286.2 +1 reviewed p.P132H 0.000 294 0% 249 24.5% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL M6PR 4074 genome.wustl.edu 37 12 9098823 9098823 + Splice_Site SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002355.2 -1 reviewed e1+2 0.988 492 0% 412 11.4% 0 - - - - - CLEC9A 283420 genome.wustl.edu 37 12 10213789 10213789 + Missense_Mutation SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_207345.2 +1 provisional p.L79Q 0.002 148 0% 167 11.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL LRP6 4040 genome.wustl.edu 37 12 12315195 12315195 + Missense_Mutation SNP C C G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002336.2 -1 reviewed p.Q737H 1.000 215 0% 230 29.1% 0 - possibly_damaging(0.753) deleterious(0.04) deleterious(0.625) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain GRIN2B 2904 genome.wustl.edu 37 12 13717264 13717264 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000834.3 -1 reviewed p.F970L 0.996 83 0% 83 26.5% 0 - probably_damaging(0.971) tolerated(1) neutral(0.413) HMMPfam_NMDAR2_C LST-3TM12 338821 genome.wustl.edu 37 12 21201731 21201731 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001009562.4 +1 validated p.L360 0.915 63 0% 119 20.2% 0 - - - - HMMPfam_OATP,superfamily_MFS general substrate transporter BHLHE41 79365 genome.wustl.edu 37 12 26276649 26276649 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_030762.2 -1 reviewed p.V87A 1.000 103 0% 141 18.4% 0 - probably_damaging(0.999) tolerated(0.18) deleterious(0.546) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain ITPR2 3709 genome.wustl.edu 37 12 26752151 26752151 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002223.2 -1 validated p.L1310P 1.000 768 0.1% 1069 20.8% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RYDR_ITPR TM7SF3 51768 genome.wustl.edu 37 12 27127036 27127037 + Frame_Shift_Del DEL CT CT - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_016551.2 -1 validated p.E525fs 0.999:1.000 - - - - - - - - - NULL PPFIBP1 8496 genome.wustl.edu 37 12 27840393 27840393 + Missense_Mutation SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003622.2 +1 reviewed p.I775F 0.996 128 0% 181 26% 5 40% benign(0.229) tolerated(0.12) neutral(0.284) HMMSmart_SAM,superfamily_SAM_homology TSPAN11 441631 genome.wustl.edu 37 12 31116879 31116879 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001080509.2 +1 validated p.G68D 0.996 112 0% 79 13.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tetraspannin CNTN1 1272 genome.wustl.edu 37 12 41330670 41330670 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001843.2 +1 reviewed p.P358L 1.000 202 0% 266 34.6% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin GXYLT1 283464 genome.wustl.edu 37 12 42499855 42499855 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_173601.1 -1 validated p.V210A 1.000 115 0% 147 36.1% 1 0% possibly_damaging(0.892) tolerated(0.09) deleterious(0.648) HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases ARID2 196528 genome.wustl.edu 37 12 46246488 46246488 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152641.2 +1 validated p.A1528T 0.998 181 0% 248 12.1% 1 0% benign(0) tolerated(0.25) neutral(0.037) NULL DDX23 9416 genome.wustl.edu 37 12 49225086 49225086 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004818.2 -1 reviewed p.T693I 1.000 178 0% 149 44.3% 24 16.6% possibly_damaging(0.592) tolerated(0.06) deleterious(0.527) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC65 85478 genome.wustl.edu 37 12 49312535 49312535 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_033124.4 +1 validated p.Y292C 0.306 130 0% 117 21.4% 0 - benign(0.004) tolerated(0.14) neutral(0.249) NULL MLL2 8085 genome.wustl.edu 37 12 49415570 49415570 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003482.3 -1 validated p.M5536T 1.000 67 0% 52 44.2% 10 20% unknown(0) - - HMMSmart_SM00508,superfamily_SET domain MLL2 8085 genome.wustl.edu 37 12 49434568 49434568 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003482.3 -1 validated p.A2329T 1.000 34 0% 23 30.4% 1 0% unknown(0) - - NULL KRT1 3848 genome.wustl.edu 37 12 53070091 53070091 + Silent SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006121.3 -1 reviewed p.T481 1.000 103 0% 91 35.2% 0 - - - - HMMPfam_Filament,PatternScan_IF ESPL1 9700 genome.wustl.edu 37 12 53673593 53673593 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012291.4 +1 validated p.G814 0.803 88 1.1% 85 32.9% 1 100% - - - NULL AAAS 8086 genome.wustl.edu 37 12 53702086 53702086 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015665.5 -1 reviewed p.R410H 1.000 200 0% 95 36.8% 32 37.5% probably_damaging(0.978) tolerated(0.52) neutral(0.429) superfamily_WD40_like PMEL 6490 genome.wustl.edu 37 12 56355492 56355492 + Missense_Mutation SNP C C G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006928.3 -1 validated p.G34A 0.940 212 0% 178 15.7% 0 - benign(0.013) tolerated(0.15) neutral(0.241) NULL PTGES3 10728 genome.wustl.edu 37 12 57066836 57066836 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006601.5 -1 validated p.A6T 1.000 56 0% 56 44.6% 35 34.2% probably_damaging(1) tolerated(0.6) deleterious(0.504) superfamily_HSP20-like chaperones,HMMPfam_CS LRP1 4035 genome.wustl.edu 37 12 57584719 57584719 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002332.2 +1 reviewed p.A2388V 0.997 51 0% 50 32% 2 0% benign(0.235) deleterious(0.04) neutral(0.372) HMMSmart_SM00135,superfamily_YWTD domain OS9 10956 genome.wustl.edu 37 12 58090074 58090074 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006812.3 +1 reviewed p.R166H 0.999 142 0% 134 11.9% 47 0% probably_damaging(0.996) tolerated(0.05) deleterious(0.807) HMMPfam_PRKCSH CDK4 1019 genome.wustl.edu 37 12 58144513 58144513 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000075.2 -1 reviewed p.L186 1.000 176 0% 187 11.2% 48 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LRIG3 121227 genome.wustl.edu 37 12 59276805 59276805 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_153377.3 -1 provisional p.N442K 1.000 177 0% 214 23.4% 0 - probably_damaging(0.995) tolerated(0.19) deleterious(0.507) superfamily_RNI-like MON2 23041 genome.wustl.edu 37 12 62972275 62972275 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015026.2 +1 validated p.I1522T 1.000 40 0% 45 33.3% 1 100% benign(0.004) tolerated(0.07) neutral(0.319) superfamily_ARM-type_fold CAND1 55832 genome.wustl.edu 37 12 67691359 67691359 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018448.3 +1 validated p.L222 1.000 339 0% 531 11.3% 5 0% - - - superfamily_ARM repeat MDM2 4193 genome.wustl.edu 37 12 69229689 69229689 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002392.3 +1 reviewed p.F255 1.000 189 0% 239 14.6% 5 60% - - - superfamily_SWIB/MDM2 domain CPSF6 11052 genome.wustl.edu 37 12 69652517 69652517 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_007007.2 +1 validated p.G281E 1.000 222 0% 239 25.9% 30 40% unknown(0) deleterious(0.04) - NULL BEST3 144453 genome.wustl.edu 37 12 70049012 70049012 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032735.2 -1 validated p.G561V 0.000 218 0% 243 16.9% 0 - benign(0.017) deleterious(0.01) neutral(0.406) NULL ZFC3H1 196441 genome.wustl.edu 37 12 72050792 72050792 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_144982.4 -1 validated p.F296L 1.000 369 0% 394 22.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL NAV3 89795 genome.wustl.edu 37 12 78571020 78571020 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014903.4 +1 validated p.A1742T 0.997 282 0% 400 23.5% 0 - benign(0) tolerated(0.26) neutral(0.034) NULL LRRIQ1 84125 genome.wustl.edu 37 12 85623377 85623377 + Silent SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001079910.1 +1 validated p.L1635 1.000 210 0% 200 24.5% 1 0% - - - NULL CEP290 80184 genome.wustl.edu 37 12 88490678 88490678 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_025114.3 -1 reviewed p.Q1030H 0.974 38 0% 35 45.7% 0 - benign(0.118) tolerated(0.09) neutral(0.306) NULL GALNT4 8693 genome.wustl.edu 37 12 89918056 89918056 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003774.3 -1 reviewed p.K91E 1.000 65 0% 82 28% 6 16.6% possibly_damaging(0.611) tolerated(0.25) neutral(0.248) NULL ATP2B1 490 genome.wustl.edu 37 12 89997545 89997547 + In_Frame_Del DEL TTC TTC - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001682.2 -1 reviewed p.K930in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_Cation_ATPase_C,superfamily_SSF81665 PLXNC1 10154 genome.wustl.edu 37 12 94618027 94618027 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005761.1 +1 provisional p.F576L 0.754 249 0% 348 38.2% 1 0% benign(0.01) tolerated(1) neutral(0.001) NULL CDK17 5128 genome.wustl.edu 37 12 96728538 96728538 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002595.3 -1 reviewed p.A26V 1.000 123 0% 199 36.2% 0 - probably_damaging(0.991) tolerated(0.34) neutral(0.467) NULL SPIC 121599 genome.wustl.edu 37 12 101880295 101880295 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152323.1 +1 provisional p.T165A 1.000 366 0% 269 14.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_2,superfamily_SSF46785 STAB2 55576 genome.wustl.edu 37 12 104056696 104056696 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_017564.9 +1 reviewed p.L648 0.868 344 0% 352 10.8% 0 - - - - HMMPfam_Fasciclin,HMMSmart_FAS1,superfamily_BIgH3_FAS1 SLC41A2 84102 genome.wustl.edu 37 12 105260246 105260246 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032148.3 -1 validated p.G380D 1.000 152 0% 172 41.9% 1 100% probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL TCP11L2 255394 genome.wustl.edu 37 12 106715304 106715304 + Missense_Mutation SNP G G A rs138884019 by1000genomes TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152772.1 +1 provisional p.R152H 0.985 59 0% 49 51% 1 0% benign(0.104) tolerated(0.08) neutral(0.308) HMMPfam_Tcp11 WSCD2 9671 genome.wustl.edu 37 12 108634265 108634265 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014653.2 +1 validated p.N430T 1.000 102 0% 74 32.4% 0 - possibly_damaging(0.434) deleterious(0) deleterious(0.586) superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC63 160762 genome.wustl.edu 37 12 111296555 111296555 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152591.1 +1 provisional p.V115 0.000 98 0% 91 42.9% 0 - - - - NULL MED13L 23389 genome.wustl.edu 37 12 116422117 116422117 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015335.3 -1 validated p.V1467M 0.998 77 0% 98 40.8% 1 0% unknown(0) deleterious(0) - HMMPfam_TRAP_240kDa FBXW8 26259 genome.wustl.edu 37 12 117426488 117426488 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_153348.2 +1 reviewed p.V351 1.000 300 0% 416 27.4% 1 0% - - - superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase FBXO21 23014 genome.wustl.edu 37 12 117612025 117612025 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_033624.2 -1 reviewed p.N287 1.000 183 0% 261 34.9% 1 0% - - - superfamily_F-box domain NOS1 4842 genome.wustl.edu 37 12 117703278 117703278 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000620.2 -1 reviewed p.T660I 1.000 21 0% 21 52.4% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_NO_synthase,superfamily_Nitric oxide (NO) synthase oxygenase domain CABP1 9478 genome.wustl.edu 37 12 121094049 121094049 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_031205.2 +1 reviewed p.K67E 1.000 16 0% 11 36.4% 0 - benign(0.206) tolerated(0.08) neutral(0.320) NULL WDR66 144406 genome.wustl.edu 37 12 122359339 122359339 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_144668.4 +1 validated p.D43G 0.000 339 0.3% 339 22.1% 1 0% possibly_damaging(0.92) deleterious(0) deleterious(0.816) superfamily_WD40 repeat-like WDR66 144406 genome.wustl.edu 37 12 122395069 122395069 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_144668.4 +1 validated p.G542D 0.266 253 0% 210 36.7% 1 0% benign(0.175) tolerated(0.16) neutral(0.075) superfamily_WD40 repeat-like LRRC43 254050 genome.wustl.edu 37 12 122676048 122676048 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001098519.1 +1 validated p.Y341 0.981 99 0% 94 42.6% 1 100% - - - NULL KNTC1 9735 genome.wustl.edu 37 12 123089509 123089509 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014708.4 +1 reviewed p.A1754V 0.988 30 0% 51 19.6% 8 62.5% benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_Rod_C MPHOSPH9 10198 genome.wustl.edu 37 12 123702944 123702944 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_022782.2 -1 validated p.S173 0.000 168 0% 158 31.6% 0 - - - - NULL ATP6V0A2 23545 genome.wustl.edu 37 12 124228355 124228355 + Silent SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012463.3 +1 reviewed p.P354 0.986 200 0% 168 33.3% 0 - - - - HMMPfam_V_ATPase_I DNAH10 196385 genome.wustl.edu 37 12 124288284 124288284 + Missense_Mutation SNP T T G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_207437.3 +1 validated p.N779K 0.790 180 0% 165 43% 0 - benign(0.044) tolerated(0.13) neutral(0.255) NULL EP400 57634 genome.wustl.edu 37 12 132547064 132547064 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015409.3 +1 validated p.L2717F 0.953 48 0% 50 18% 4 0% probably_damaging(0.999) - - NULL ZNF140 7699 genome.wustl.edu 37 12 133682795 133682795 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003440.2 +1 validated p.R311H 0.263 257 0% 296 32.4% 20 25% benign(0.081) tolerated(0.1) neutral(0.292) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF268 10795 genome.wustl.edu 37 12 133779178 133779178 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003415.2 +1 validated p.K302 0.247 52 0% 60 30% 2 0% - - - superfamily_C2H2 and C2HC zinc fingers PSPC1 55269 genome.wustl.edu 37 13 20325428 20325428 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001042414.1 -1 validated p.L317S 1.000 509 0% 400 39% 8 37.5% possibly_damaging(0.808) deleterious(0.05) deleterious(0.649) NULL ZMYM2 7750 genome.wustl.edu 37 13 20610960 20610963 + Frame_Shift_Del DEL AAGA AAGA - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 AAGA AAGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003453.2 +1 validated p.K735fs 1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_zf-FCS,HMMSmart_TRASH SKA3 221150 genome.wustl.edu 37 13 21734051 21734051 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000314759 -1 known p.S302N 0.001 129 0% 229 42.4% 3 100% benign(0.073) tolerated(0.31) neutral(0.032) NULL SACS 26278 genome.wustl.edu 37 13 23906196 23906196 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014363.4 -1 reviewed p.V3940A 1.000 172 0% 139 23% 0 - possibly_damaging(0.794) tolerated(0.51) neutral(0.307) NULL PABPC3 5042 genome.wustl.edu 37 13 25671897 25671897 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_030979.2 +1 validated p.A521T 0.420 119 0% 135 37% 0 - benign(0) tolerated(0.32) neutral(0.024) superfamily_PABC (PABP) domain POLR1D 51082 genome.wustl.edu 37 13 28197186 28197186 + Missense_Mutation SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015972.2 +1 provisional p.F67L 1.000 90 0% 99 31.3% 29 27.5% possibly_damaging(0.851) deleterious(0.01) deleterious(0.733) PatternScan_RNA_POL_L_13KD,superfamily_RBP11-like subunits of RNA polymerase,HMMPfam_RNA_pol_L FRY 10129 genome.wustl.edu 37 13 32723952 32723952 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_023037.2 +1 validated p.A487V 1.000 63 0% 84 28.6% 0 - benign(0.253) tolerated(0.79) neutral(0.027) NULL STARD13 90627 genome.wustl.edu 37 13 33700335 33700335 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_178006.3 -1 validated p.Y655 1.000 188 0% 175 41.1% 0 - - - - NULL DCLK1 9201 genome.wustl.edu 37 13 36700142 36700142 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004734.3 -1 validated p.R45C 1.000 51 0% 70 52.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF89837 CCDC70 83446 genome.wustl.edu 37 13 52439566 52439566 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_031290.2 +1 validated p.S18G 0.943 171 0% 178 10.7% 0 - possibly_damaging(0.552) tolerated(0.09) deleterious(0.484) NULL THSD1 55901 genome.wustl.edu 37 13 52952763 52952763 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018676.3 -1 reviewed p.P448S 0.206 86 0% 97 13.4% 2 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL DIAPH3 81624 genome.wustl.edu 37 13 60616935 60616935 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001042517.1 -1 validated p.R172Q 0.997 107 0% 140 35% 0 - possibly_damaging(0.938) tolerated(0.13) deleterious(0.636) HMMPfam_Drf_GBD DIS3 22894 genome.wustl.edu 37 13 73340127 73340127 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014953.3 -1 validated p.L651 0.951 51 0% 75 28% 2 0% - - - HMMPfam_RNB DIS3 22894 genome.wustl.edu 37 13 73346414 73346414 + Splice_Site SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014953.3 -1 validated e10-1 1.000 58 0% 90 44.4% 0 - - - - - RNF113B 140432 genome.wustl.edu 37 13 98829137 98829137 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_178861.4 -1 validated p.T118 0.995 34 2.9% 34 41.2% 0 - - - - NULL DOCK9 23348 genome.wustl.edu 37 13 99449440 99449440 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000357329 -1 known p.E2044K 1.000 36 0% 32 34.4% 3 33.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Ded_cyto ERCC5 2073 genome.wustl.edu 37 13 103514654 103514654 + Silent SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000123.2 +1 reviewed p.P385 0.000 151 0% 138 20.3% 3 33.3% - - - superfamily_PIN domain-like COL4A2 1284 genome.wustl.edu 37 13 111147746 111147746 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001846.2 +1 reviewed p.P1231Q 0.028 38 0% 53 41.5% 83 10.8% possibly_damaging(0.9) tolerated(0.59) neutral(0.361) NULL OR4K14 122740 genome.wustl.edu 37 14 20483225 20483225 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001004712.1 -1 provisional p.L43P 0.020 103 1% 113 12.4% 0 - benign(0.241) deleterious(0.01) neutral(0.430) HMMPfam_7tm_1,superfamily_SSF81321 TEP1 7011 genome.wustl.edu 37 14 20849099 20849100 + Frame_Shift_Del DEL CA CA - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_007110.4 -1 reviewed p.A1585fs 0.741:0.685 - - - - - - - - - NULL RNASE12 493901 genome.wustl.edu 37 14 21058681 21058681 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001024822.2 -1 validated p.F68V 1.000 115 0% 81 32.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RnaseA,superfamily_RNaseA RNASE8 122665 genome.wustl.edu 37 14 21526309 21526309 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_138331.1 +1 provisional p.N86K 0.000 325 0% 341 41.3% 0 - benign(0.005) tolerated(0.11) neutral(0.272) HMMPfam_RnaseA,HMMSmart_SM00092,superfamily_RNase A-like SALL2 6297 genome.wustl.edu 37 14 21991004 21991004 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005407.1 -1 validated p.A953V 1.000 95 0% 62 43.5% 6 50% probably_damaging(0.985) deleterious(0.03) deleterious(0.796) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers C14orf93 60686 genome.wustl.edu 37 14 23456736 23456736 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001130706.1 -1 validated p.N435 0.768 76 0% 66 18.2% 10 50% - - - NULL C14orf93 60686 genome.wustl.edu 37 14 23465180 23465180 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001130706.1 -1 validated p.R299C 1.000 151 0% 121 38% 5 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MYH7 4625 genome.wustl.edu 37 14 23884902 23884902 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000257.2 -1 reviewed p.S1698F 0.982 65 0% 54 27.8% 0 - benign(0.061) deleterious(0) neutral(0.449) HMMPfam_Myosin_tail_1 DHRS2 10202 genome.wustl.edu 37 14 24108387 24108387 + Splice_Site SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_182908.4 +1 validated e2-1 1.000 73 0% 63 22.2% 0 - - - - - LRRC16B 90668 genome.wustl.edu 37 14 24527945 24527945 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_138360.3 +1 validated p.V483 0.995 19 0% 19 42.1% 0 - - - - superfamily_RNI-like TINF2 26277 genome.wustl.edu 37 14 24709015 24709015 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001099274.1 -1 reviewed p.S448 0.006 171 0% 140 11.4% 9 0% - - - NULL AP4S1 11154 genome.wustl.edu 37 14 31539050 31539050 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_007077.3 +1 validated p.C47Y 1.000 318 0% 215 35.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Clat_adaptor_s,superfamily_Longin_like LOC100289251 100289251 genome.wustl.edu 37 14 35871729 35871729 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 XM_002343271.1 +1 model p.G66D 1.000 77 0% 85 41.2% 30 30% - - - NULL FANCM 57697 genome.wustl.edu 37 14 45669090 45669090 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020937.2 +1 reviewed p.S2009Y 0.992 268 0% 265 21.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_RuvA domain 2-like MDGA2 161357 genome.wustl.edu 37 14 47530515 47530515 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001113498.1 -1 validated p.A419T 1.000 195 0% 250 26% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 ABHD12B 145447 genome.wustl.edu 37 14 51352569 51352569 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_181814.1 +1 validated p.S129 0.999 154 0% 193 26.9% 0 - - - - HMMPfam_Abhydrolase_1,superfamily_SSF53474 RTN1 6252 genome.wustl.edu 37 14 60212574 60212574 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_021136.2 -1 reviewed p.E289 0.001 233 0% 375 11.7% 0 - - - - NULL MTHFD1 4522 genome.wustl.edu 37 14 64882459 64882459 + Splice_Site SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005956.3 +1 reviewed e6+2 1.000 102 0% 102 43.1% 0 - - - - - ENSG00000249603 0 genome.wustl.edu 37 14 65067340 65067340 + RNA SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000509438 +1 novel NULL 0.853 64 0% 61 37.7% 0 - - - - - MAX 4149 genome.wustl.edu 37 14 65560514 65560514 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002382.3 -1 reviewed p.H28R 1.000 73 0% 95 36.8% 12 41.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain SLC39A9 55334 genome.wustl.edu 37 14 69925109 69925109 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018375.3 +1 validated p.N241 1.000 164 0% 206 27.2% 2 0% - - - HMMPfam_Zip RGS6 9628 genome.wustl.edu 37 14 72985245 72985245 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004296.4 +1 validated p.Q426H 1.000 99 0% 94 38.3% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS YLPM1 56252 genome.wustl.edu 37 14 75266144 75266144 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_019589.2 +1 validated p.T1382A 0.988 840 0% 878 11.4% 3 0% benign(0.182) deleterious(0.03) neutral(0.381) NULL EIF2B2 8892 genome.wustl.edu 37 14 75475757 75475757 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014239.3 +1 reviewed p.V308M 1.000 333 0% 290 39.3% 16 25% possibly_damaging(0.558) deleterious(0.01) deleterious(0.596) HMMPfam_IF-2B,superfamily_NagB/RpiA/CoA transferase-like JDP2 122953 genome.wustl.edu 37 14 75936126 75936126 + Missense_Mutation SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001135049.1 +1 validated p.K158M 1.000 24 0% 44 25% 9 11.1% probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL TTLL5 23093 genome.wustl.edu 37 14 76249820 76249820 + Missense_Mutation SNP G G C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015072.4 +1 reviewed p.S978T 1.000 384 0% 455 38.5% 5 20% probably_damaging(0.953) tolerated(0.22) neutral(0.439) NULL AHSA1 10598 genome.wustl.edu 37 14 77925963 77925964 + Frame_Shift_Del DEL GA GA - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012111.2 +1 validated p.D31fs 1.000:1.000 - - - - - - - - - HMMPfam_Aha1_N,superfamily_Activator of Hsp90 ATPase Aha1 FOXN3 1112 genome.wustl.edu 37 14 89878748 89878748 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001085471.1 -1 reviewed p.C25R 1.000 133 0% 75 38.7% 0 - benign(0.001) tolerated(0.4) neutral(0.016) NULL GPR68 8111 genome.wustl.edu 37 14 91701155 91701155 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003485.3 -1 validated p.Y90 1.000 8 0.000 15 0.333 2 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 GOLGA5 9950 genome.wustl.edu 37 14 93264086 93264086 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005113.2 +1 reviewed p.S102P 0.122 186 0% 168 25% 7 28.5% probably_damaging(0.996) tolerated(0.3) deleterious(0.490) NULL SERPINA2 390502 genome.wustl.edu 37 14 94833010 94833010 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000238576 -1 known p.V9A 0.195 10 0% 11 45.5% 0 - - - - superfamily_Serpins CLMN 79789 genome.wustl.edu 37 14 95679705 95679705 + Silent SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_024734.3 -1 validated p.S153 0.074 78 0% 68 27.9% 1 100% - - - superfamily_Calponin-homology domain CH-domain ATG2B 55102 genome.wustl.edu 37 14 96775883 96775883 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018036.5 -1 validated p.A1404T 1.000 155 0.6% 188 39.9% 1 0% benign(0.001) tolerated(0.71) neutral(0.002) NULL TRAF3 7187 genome.wustl.edu 37 14 103369606 103369606 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003300.2 +1 reviewed p.S325 1.000 32 0% 30 33.3% 2 50% - - - NULL TDRD9 122402 genome.wustl.edu 37 14 104515953 104515953 + Missense_Mutation SNP G G C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_153046.2 +1 validated p.C1328S 0.978 14 0% 16 37.5% 0 - benign(0) tolerated(0.78) neutral(0.001) NULL AHNAK2 113146 genome.wustl.edu 37 14 105418215 105418215 + Silent SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_138420.2 -1 validated p.P1191 0.005 65 0% 57 19.3% 0 - - - - NULL HERC2 8924 genome.wustl.edu 37 15 28419655 28419655 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004667.4 -1 reviewed p.A3315T 1.000 71 0% 101 24.8% 1 0% possibly_damaging(0.912) deleterious(0.01) deleterious(0.769) HMMPfam_RCC1,superfamily_RCC1/BLIP-II TJP1 7082 genome.wustl.edu 37 15 30053906 30053906 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003257.3 -1 validated p.G254C 1.000 149 0% 141 35.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like ENSG00000103832 0 genome.wustl.edu 37 15 31092307 31092307 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000220188 +1 known p.G230 0.707 65 1.5% 58 17.2% 0 - - - - NULL GOLGA8A 23015 genome.wustl.edu 37 15 34673802 34673802 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_181077.3 -1 reviewed p.A541V 0.667 106 0% 67 40.3% 6 33.3% benign(0) tolerated(1) - NULL VPS39 23339 genome.wustl.edu 37 15 42470677 42470677 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015289.2 -1 reviewed p.L270 1.000 254 0% 237 17.3% 2 0% - - - HMMPfam_CNH TTBK2 146057 genome.wustl.edu 37 15 43045381 43045381 + Missense_Mutation SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_173500.3 -1 reviewed p.Q688L 0.839 206 0% 182 42.3% 0 - benign(0.032) deleterious(0.02) neutral(0.385) NULL TMEM62 80021 genome.wustl.edu 37 15 43438708 43438708 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_024956.3 +1 provisional p.R165H 0.854 311 0% 446 42.2% 4 0% probably_damaging(0.998) tolerated(0.15) deleterious(0.716) superfamily_SSF56300 ZSCAN29 146050 genome.wustl.edu 37 15 43653873 43653873 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152455.3 -1 validated p.Y653H 0.444 262 0% 238 29% 1 0% benign(0.004) tolerated(0.2) neutral(0.049) NULL SLC24A5 283652 genome.wustl.edu 37 15 48431165 48431165 + Splice_Site SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_205850.2 +1 reviewed e7-1 1.000 179 0% 231 40.7% 0 - - - - - FBN1 2200 genome.wustl.edu 37 15 48744828 48744828 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000138.4 -1 reviewed p.N1826D 1.000 90 0% 80 27.5% 3 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48788407 48788407 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000138.4 -1 reviewed p.V770A 0.967 154 0% 176 16.5% 0 - benign(0) tolerated(1) - 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 49088330 49088330 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014985.2 -1 provisional p.Y190H 0.926 264 0% 289 12.5% 1 0% probably_damaging(0.99) tolerated(0.37) neutral(0.461) NULL SECISBP2L 9728 genome.wustl.edu 37 15 49320772 49320772 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014701.2 -1 provisional p.S258P 1.000 182 0% 243 21.8% 1 100% probably_damaging(0.974) deleterious(0.02) deleterious(0.799) NULL SECISBP2L 9728 genome.wustl.edu 37 15 49325229 49325229 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014701.2 -1 provisional p.E199 1.000 203 0% 279 27.6% 2 0% - - - NULL CYP19A1 1588 genome.wustl.edu 37 15 51503006 51503006 + Nonstop_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000103.3 -1 reviewed p.*504W 0.982 385 0% 626 24.9% 0 - - - - NULL CYP19A1 1588 genome.wustl.edu 37 15 51535148 51535148 + Splice_Site SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_031226.2 -1 reviewed e1-1 0.986 286 0% 307 43% 0 - - - - - POLR2M 81488 genome.wustl.edu 37 15 58001173 58001173 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015532.3 +1 reviewed p.Q125H 0.007 107 0% 86 38.4% 1 100% possibly_damaging(0.519) tolerated(0.1) neutral(0.461) NULL RNF111 54778 genome.wustl.edu 37 15 59368377 59368380 + Frame_Shift_Del DEL CTCT CTCT - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 CTCT CTCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_017610.6 +1 reviewed p.L639fs 0.975:0.997:1.000:0.991 - - - - - - - - - NULL CILP 8483 genome.wustl.edu 37 15 65491256 65491256 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003613.3 -1 reviewed p.G456 0.297 71 0% 43 14% 1 0% - - - NULL AAGAB 79719 genome.wustl.edu 37 15 67524165 67524165 + Silent SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_024666.3 -1 validated p.V174 0.934 392 0% 467 40.5% 7 42.8% - - - HMMPfam_Adaptin_binding MAN2C1 4123 genome.wustl.edu 37 15 75652479 75652479 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006715.2 -1 validated p.R553H 0.266 49 0% 44 34.1% 20 25% possibly_damaging(0.909) tolerated(0.16) neutral(0.421) HMMPfam_Alpha-mann_mid,superfamily_SSF88688 KIAA1199 57214 genome.wustl.edu 37 15 81225673 81225673 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018689.1 +1 validated p.V961I 0.939 83 0% 100 41% 4 50% benign(0.01) tolerated(0.62) neutral(0.005) NULL ZNF592 9640 genome.wustl.edu 37 15 85341105 85341105 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014630.2 +1 validated p.I802T 1.000 57 0% 65 44.6% 6 0% probably_damaging(0.991) tolerated(0.28) deleterious(0.476) HMMSmart_ZnF_C2H2 AKAP13 11214 genome.wustl.edu 37 15 86087045 86087045 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006738.4 +1 reviewed p.L174P 1.000 120 0% 123 44.7% 0 - possibly_damaging(0.816) deleterious(0) deleterious(0.753) superfamily_ANK KLHL25 64410 genome.wustl.edu 37 15 86311486 86311486 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_022480.3 -1 validated p.T519M 1.000 41 0% 37 35.1% 2 50% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central SYNM 23336 genome.wustl.edu 37 15 99669982 99669982 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000336292 +1 known p.R472W 0.000 72 0% 55 21.8% 0 - benign(0.017) tolerated(0.1) neutral(0.287) NULL ENSG00000214394 0 genome.wustl.edu 37 15 100332876 100332876 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000398270 +1 known p.P135H 0.092 85 0% 50 18% 0 - - - - NULL HMOX2 3163 genome.wustl.edu 37 16 4556923 4556923 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001127204.1 +1 reviewed p.K38N 1.000 214 0% 202 40.1% 17 11.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Heme_oxygenase,superfamily_Heme oxygenase-like ABAT 18 genome.wustl.edu 37 16 8875213 8875213 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000663.4 +1 reviewed p.T477A 0.999 338 0% 174 43.1% 2 0% benign(0.002) tolerated(0.62) neutral(0.004) superfamily_PyrdxlP-dep_Trfase_major GRIN2A 2903 genome.wustl.edu 37 16 9943803 9943803 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000833.3 -1 reviewed p.N380D 1.000 88 0% 116 12.1% 0 - probably_damaging(0.999) tolerated(0.39) deleterious(0.506) superfamily_Periplasmic binding protein-like I CIITA 4261 genome.wustl.edu 37 16 10971205 10971205 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000246.3 +1 reviewed p.P6 0.015 11 0% 18 50% 0 - - - - NULL RSL1D1 26156 genome.wustl.edu 37 16 11941653 11941653 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015659.2 -1 validated p.H86N 0.785 226 0% 173 41.6% 23 43.4% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) superfamily_Ribosomal protein L1 UMOD 7369 genome.wustl.edu 37 16 20359847 20359847 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001008389.1 -1 reviewed p.D259G 0.016 12 0% 10 40% 0 - benign(0.03) tolerated(0.11) neutral(0.273) NULL OTOA 146183 genome.wustl.edu 37 16 21721386 21721386 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_144672.3 +1 reviewed p.V428I 0.953 71 0% 47 46.8% 0 - benign(0.002) tolerated(0.78) neutral(0.001) NULL SCNN1B 6338 genome.wustl.edu 37 16 23392047 23392047 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000336.2 +1 reviewed p.P616 0.695 31 0% 19 31.6% 0 - - - - NULL COG7 91949 genome.wustl.edu 37 16 23444942 23444942 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_153603.3 -1 reviewed p.S245F 0.034 110 0% 112 22.3% 2 100% benign(0.029) deleterious(0.04) neutral(0.350) HMMPfam_COG7 DCTN5 84516 genome.wustl.edu 37 16 23669906 23669906 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032486.2 +1 provisional p.R66C 1.000 157 0% 145 39.3% 6 0% benign(0.011) tolerated(0.05) neutral(0.346) HMMPfam_Hexapep,superfamily_Trimeric LpxA-like enzymes XPO6 23214 genome.wustl.edu 37 16 28128658 28128658 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015171.2 -1 provisional p.T662I 1.000 194 0% 182 19.8% 9 22.2% benign(0) tolerated(0.52) neutral(0.009) superfamily_ARM repeat ATP2A1 487 genome.wustl.edu 37 16 28911903 28911903 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_173201.2 +1 reviewed p.T589M 0.968 65 0% 47 19.1% 1 100% benign(0.077) deleterious(0.03) neutral(0.370) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M LOC728888 728888 genome.wustl.edu 37 16 29401632 29401632 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 XM_002343430.1 -1 model p.G96E 0.001 395 0% 430 13.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_NPIP KCTD13 253980 genome.wustl.edu 37 16 29934552 29934552 + Missense_Mutation SNP G G C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_178863.2 -1 provisional p.L125V 1.000 32 0% 39 23.1% 9 22.2% possibly_damaging(0.659) tolerated(0.39) neutral(0.248) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain HIRIP3 8479 genome.wustl.edu 37 16 30006497 30006497 + Silent SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003609.2 -1 reviewed p.T76 0.096 65 0% 47 48.9% 2 50% - - - NULL SETD1A 9739 genome.wustl.edu 37 16 30977127 30977127 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014712.1 +1 provisional p.P642L 0.150 37 0% 26 69.2% 1 0% probably_damaging(0.994) - - NULL STX4 6810 genome.wustl.edu 37 16 31049331 31049331 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004604.3 +1 provisional p.R155W 1.000 113 0.9% 98 36.7% 28 17.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_t-snare PRSS36 146547 genome.wustl.edu 37 16 31157201 31157201 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_173502.3 -1 validated p.Y210C 0.358 17 0% 12 41.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ITGAD 3681 genome.wustl.edu 37 16 31414821 31414821 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005353.2 +1 validated p.F187L 1.000 306 0.3% 247 11.7% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like,superfamily_Integrin alpha N-terminal domain C16orf87 388272 genome.wustl.edu 37 16 46843570 46843570 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001001436.2 -1 predicted p.R97 1.000 721 0% 1017 24.6% 4 0% - - - NULL ITFG1 81533 genome.wustl.edu 37 16 47409816 47409816 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_030790.3 -1 provisional p.T231A 0.000 53 0% 51 11.8% 12 0% benign(0) tolerated(0.19) neutral(0.050) NULL PHKB 5257 genome.wustl.edu 37 16 47698848 47698848 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000293.2 +1 reviewed p.A797T 1.000 103 0% 96 28.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_PHK_AB CNEP1R1 255919 genome.wustl.edu 37 16 50063634 50063634 + Splice_Site SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_153261.4 +1 provisional e4-2 1.000 80 0% 85 23.5% 1 0% - - - - NLRC5 84166 genome.wustl.edu 37 16 57099124 57099124 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032206.3 +1 validated p.R1385 1.000 22 0% 10 40% 1 0% - - - superfamily_RNI-like NLRC5 84166 genome.wustl.edu 37 16 57116373 57116373 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032206.3 +1 validated p.K1845R 0.989 52 0% 36 19.4% 4 50% benign(0.009) tolerated(0.64) neutral(0.004) superfamily_RNI-like POLR2C 5432 genome.wustl.edu 37 16 57504202 57504202 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032940.2 +1 reviewed p.E207K 1.000 41 0% 30 26.7% 16 37.5% possibly_damaging(0.869) tolerated(0.36) neutral(0.357) superfamily_RBP11-like subunits of RNA polymerase,HMMPfam_RNA_pol_L,HMMSmart_SM00662 CDH8 1006 genome.wustl.edu 37 16 61858971 61858971 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001796.2 -1 reviewed p.T260 0.000 146 0% 218 28% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin SLC9A5 6553 genome.wustl.edu 37 16 67286645 67286645 + Missense_Mutation SNP G G A rs78465521 TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004594.2 +1 validated p.D130N 1.000 90 1.1% 72 41.7% 0 - benign(0.235) tolerated(0.12) neutral(0.284) HMMPfam_Na_H_Exchanger GFOD2 81577 genome.wustl.edu 37 16 67709642 67709642 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_030819.3 -1 validated p.R192W 0.198 34 0% 28 42.9% 8 50% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_GFO_IDH_MocA_C,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain PRMT7 54496 genome.wustl.edu 37 16 68373257 68373257 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_019023.2 +1 validated p.T179 0.977 172 0% 110 40% 6 16.6% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases TMCO7 79613 genome.wustl.edu 37 16 68894118 68894118 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_024562.1 +1 validated p.Q142 1.000 201 0% 186 11.8% 0 - - - - NULL TERF2 7014 genome.wustl.edu 37 16 69390813 69390813 + Silent SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005652.2 -1 reviewed p.L497 1.000 370 0% 315 35.6% 5 40% - - - HMMSmart_SM00717,superfamily_Homeodomain-like DHODH 1723 genome.wustl.edu 37 16 72058060 72058060 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001361.3 +1 reviewed p.G384R 0.019 49 0% 50 22% 9 44.4% benign(0) tolerated(0.11) neutral(0.272) superfamily_SSF51395 DHX38 9785 genome.wustl.edu 37 16 72132848 72132848 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014003.3 +1 reviewed p.D263N 0.955 27 0% 19 42.1% 3 33.3% benign(0.001) tolerated(0.25) neutral(0.037) NULL ZFHX3 463 genome.wustl.edu 37 16 72828912 72828913 + Frame_Shift_Del DEL GC GC - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 GC GC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006885.3 -1 reviewed p.Q2557fs 1.000:0.725 - - - - - - - - - superfamily_C2H2 and C2HC zinc fingers CENPN 55839 genome.wustl.edu 37 16 81066215 81066215 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001100625.1 +1 validated p.G326 0.135 46 0% 38 36.8% 0 - - - - HMMPfam_CHL4 PKD1L2 114780 genome.wustl.edu 37 16 81157325 81157325 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_052892.3 -1 reviewed p.S2138 1.000 203 0% 156 32.7% 0 - - - - NULL ZC3H18 124245 genome.wustl.edu 37 16 88677692 88677693 + Frame_Shift_Del DEL GA GA - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_144604.3 +1 validated p.E411fs 0.616:0.522 - - - - - - - - - NULL FAM57A 79850 genome.wustl.edu 37 17 641248 641248 + Missense_Mutation SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_024792.1 +1 provisional p.H123Q 1.000 111 0% 71 21.1% 4 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 MYO1C 4641 genome.wustl.edu 37 17 1370833 1370833 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001080779.1 -1 reviewed p.T1002 0.866 22 0% 14 50% 42 28.5% - - - HMMPfam_Myosin_TH1 PITPNA 5306 genome.wustl.edu 37 17 1437461 1437461 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006224.3 -1 reviewed p.K234E 1.000 435 0% 367 23.4% 20 15% benign(0) tolerated(1) - HMMPfam_IP_trans,superfamily_SSF55961 RAP1GAP2 23108 genome.wustl.edu 37 17 2898708 2898708 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015085.4 +1 reviewed p.I331T 1.000 200 0% 111 26.1% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) OR3A3 8392 genome.wustl.edu 37 17 3324202 3324202 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012373.2 +1 validated p.H114R 0.308 245 0% 234 26.9% 0 - possibly_damaging(0.821) tolerated(0.35) neutral(0.331) HMMPfam_7tm_1,superfamily_SSF81321 SHPK 23729 genome.wustl.edu 37 17 3514144 3514144 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_013276.2 -1 reviewed p.A383T 1.000 55 0% 26 42.3% 3 0% probably_damaging(0.969) deleterious(0.02) deleterious(0.794) superfamily_Actin-like ATPase domain CYB5D2 124936 genome.wustl.edu 37 17 4047117 4047117 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_144611.3 +1 validated p.A23V 0.145 32 0% 27 40.7% 8 37.5% unknown(0) tolerated(1) - NULL ALOX15 246 genome.wustl.edu 37 17 4540505 4540505 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001140.3 -1 validated p.A286T 1.000 55 0% 37 29.7% 0 - benign(0.12) tolerated(0.43) neutral(0.023) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase MED31 51003 genome.wustl.edu 37 17 6553752 6553752 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_016060.2 -1 validated p.D10 1.000 173 0% 173 24.9% 2 0% - - - NULL PHF23 79142 genome.wustl.edu 37 17 7139748 7139748 + Silent SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_024297.2 -1 validated p.P166 0.918 46 0% 44 34.1% 15 46.6% - - - NULL NEURL4 84461 genome.wustl.edu 37 17 7221995 7221995 + Splice_Site SNP T T G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032442.2 -1 validated e23-2 1.000 20 5% 23 39.1% 2 100% - - - - POLR2A 5430 genome.wustl.edu 37 17 7415238 7415238 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000937.3 +1 validated p.T1404A 1.000 123 0.8% 164 12.8% 27 0% possibly_damaging(0.574) deleterious(0) deleterious(0.641) HMMPfam_RNA_pol_Rpb1_5,superfamily_SSF64484 FXR2 9513 genome.wustl.edu 37 17 7497268 7497268 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004860.3 -1 reviewed p.A359S 1.000 77 0% 84 38.1% 3 33.3% possibly_damaging(0.494) deleterious(0) deleterious(0.609) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) DNAH2 146754 genome.wustl.edu 37 17 7720970 7720970 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020877.2 +1 validated p.G3371V 1.000 388 0% 289 36% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL USP43 124739 genome.wustl.edu 37 17 9631600 9631600 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_153210.3 +1 validated p.G889R 0.000 19 0% 22 45.5% 13 46.1% benign(0.106) tolerated(0.09) neutral(0.304) NULL FAM18B2 201158 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000438826 -1 known e7-2 0.998 125 0% 165 22.4% 0 - - - - - NCOR1 9611 genome.wustl.edu 37 17 15965087 15965087 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006311.2 -1 reviewed p.S1837P 0.899 239 0% 244 20.5% 4 50% benign(0.196) tolerated(0.21) neutral(0.062) NULL USP22 23326 genome.wustl.edu 37 17 20914479 20914479 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015276.1 -1 validated p.T363M 0.997 10 0% 14 42.9% 11 45.4% benign(0.076) tolerated(0.26) neutral(0.040) HMMPfam_UCH,superfamily_Cysteine proteinases KSR1 8844 genome.wustl.edu 37 17 25936228 25936228 + Nonsense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014238.1 +1 validated p.G585* 1.000 34 0% 34 38.2% 1 0% - - - HMMPfam_Pkinase_Tyr,superfamily_Kinase_like SUZ12 23512 genome.wustl.edu 37 17 30325815 30325815 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015355.2 +1 reviewed p.I671M 1.000 93 0% 88 39.8% 2 0% possibly_damaging(0.512) tolerated(0.05) deleterious(0.517) HMMPfam_VEFS-Box ENSG00000224113 0 genome.wustl.edu 37 17 33332679 33332679 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000415412 +1 known p.L134S 1.000 148 0% 122 21.3% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_DUF2055 SLFN5 162394 genome.wustl.edu 37 17 33586076 33586076 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_144975.3 +1 validated p.T123A 0.000 246 0% 178 25.3% 2 50% possibly_damaging(0.792) tolerated(0.1) deleterious(0.583) NULL SLFN5 162394 genome.wustl.edu 37 17 33592182 33592182 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_144975.3 +1 validated p.A651T 1.000 193 0% 182 38.5% 3 33.3% probably_damaging(0.999) tolerated(0.29) deleterious(0.519) superfamily_P-loop containing nucleoside triphosphate hydrolases SLFN11 91607 genome.wustl.edu 37 17 33680012 33680012 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001104587.1 -1 validated p.R690I 0.023 226 0% 272 38.2% 2 0% probably_damaging(0.984) deleterious(0.02) deleterious(0.814) superfamily_P-loop containing nucleoside triphosphate hydrolases MLLT6 4302 genome.wustl.edu 37 17 36864078 36864078 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005937.3 +1 validated p.M103L 1.000 20 0% 15 33.3% 1 100% probably_damaging(0.97) tolerated(0.34) neutral(0.435) NULL CACNB1 782 genome.wustl.edu 37 17 37331811 37331811 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000723.3 -1 reviewed p.L478I 1.000 70 0% 30 26.7% 2 50% benign(0.006) tolerated(0.38) neutral(0.018) NULL RPL19 6143 genome.wustl.edu 37 17 37359332 37359332 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000981.3 +1 reviewed p.Y109C 1.000 167 0% 135 20% 1632 30% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ribosomal_L19e,superfamily_Ribosomal protein L19 (L19e) TNS4 84951 genome.wustl.edu 37 17 38640755 38640755 + Silent SNP C C T rs11868898 byCluster;byFrequency;byHapMap;by1000genomes TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032865.5 -1 validated p.A494 0.002 54 0% 33 36.4% 0 - - - - HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 KRT27 342574 genome.wustl.edu 37 17 38938717 38938717 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_181537.3 -1 reviewed p.R10M 0.659 31 0% 27 25.9% 0 - possibly_damaging(0.95) deleterious(0.02) deleterious(0.776) NULL KRT15 3866 genome.wustl.edu 37 17 39673406 39673406 + Silent SNP G G T rs182080944 by1000genomes TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002275.3 -1 reviewed p.T170 0.999 91 0% 54 51.9% 0 - - - - HMMPfam_Filament KRT14 3861 genome.wustl.edu 37 17 39742850 39742852 + In_Frame_Del DEL GCT GCT - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000526.4 -1 reviewed p.S79in_frame_del 0.969:0.977:0.991 - - - - - - - - - NULL RAB5C 5878 genome.wustl.edu 37 17 40277886 40277886 + Missense_Mutation SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004583.2 -1 validated p.N189I 1.000 38 0% 35 28.6% 71 30.9% benign(0.028) tolerated(0.05) neutral(0.347) HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases HSD17B1 3292 genome.wustl.edu 37 17 40706586 40706588 + In_Frame_Del DEL GAG GAG - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000413.2 +1 validated p.E236in_frame_del 0.972:0.998:0.998 - - - - - - - - - superfamily_NAD(P)-binding Rossmann-fold domains PSMC3IP 29893 genome.wustl.edu 37 17 40729247 40729247 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_016556.2 -1 validated p.I70T 1.000 70 0% 67 38.8% 3 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_TBPIP DHX8 1659 genome.wustl.edu 37 17 41598890 41598890 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004941.1 +1 reviewed p.R1074W 1.000 134 0.7% 97 38.1% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM101 84336 genome.wustl.edu 37 17 42089360 42089360 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032376.2 -1 provisional p.M237T 1.000 76 0% 79 13.9% 92 4.3% benign(0.15) tolerated(0.06) neutral(0.336) NULL GRN 2896 genome.wustl.edu 37 17 42429099 42429099 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002087.2 +1 reviewed p.C372Y 1.000 30 0% 21 47.6% 523 38.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00277,superfamily_Granulin repeat C17orf104 284071 genome.wustl.edu 37 17 42744615 42744615 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001145080.2 +1 validated p.K446E 1.000 364 0% 272 26.8% 0 - possibly_damaging(0.882) tolerated(0.11) deleterious(0.616) NULL ENSG00000249872 0 genome.wustl.edu 37 17 44627770 44627770 + RNA SNP T T G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000510581 -1 novel NULL 0.000 118 0% 72 15.3% 0 - - - - - SPOP 8405 genome.wustl.edu 37 17 47677757 47677758 + Frame_Shift_Ins INS - - T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001007226.1 -1 reviewed p.R369fs 1.000:0.994 - - - - - - - - - NULL AKAP1 8165 genome.wustl.edu 37 17 55183287 55183287 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003488.3 +1 reviewed p.G154 0.000 58 0% 37 29.7% 1 0% - - - NULL AKAP1 8165 genome.wustl.edu 37 17 55184384 55184384 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003488.3 +1 reviewed p.C520Y 0.364 123 0% 123 17.9% 10 0% probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL RNFT1 51136 genome.wustl.edu 37 17 58041999 58041999 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_016125.3 -1 validated p.P9Q 0.000 5 0.000 6 0.667 4 0% unknown(0) deleterious(0) - NULL HEATR6 63897 genome.wustl.edu 37 17 58124720 58124720 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_022070.4 -1 validated p.L907F 1.000 100 0% 111 23.4% 3 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_ARM-type_fold PPM1D 8493 genome.wustl.edu 37 17 58740749 58740749 + Nonsense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003620.2 +1 reviewed p.R552* 0.999 184 0% 155 34.2% 3 66.6% - - - NULL INTS2 57508 genome.wustl.edu 37 17 59949800 59949800 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020748.2 -1 validated p.I876 0.999 50 0% 69 42% 1 0% - - - NULL MED13 9969 genome.wustl.edu 37 17 60045496 60045496 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005121.2 -1 reviewed p.G1364V 1.000 174 0% 201 38.8% 2 0% probably_damaging(0.998) tolerated(0.15) deleterious(0.716) HMMPfam_TRAP_240kDa MAP3K3 4215 genome.wustl.edu 37 17 61766214 61766214 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_203351.1 +1 reviewed p.S313P 1.000 75 0% 66 25.8% 6 16.6% benign(0.017) tolerated(0.25) neutral(0.037) NULL CEP95 90799 genome.wustl.edu 37 17 62530846 62530846 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_138363.1 +1 provisional p.R687 0.998 66 0% 85 31.8% 8 25% - - - NULL GNA13 10672 genome.wustl.edu 37 17 63052633 63052633 + Nonsense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006572.4 -1 validated p.Q27* 1.000 27 0% 46 41.3% 1 0% - - - HMMPfam_G-alpha,superfamily_P-loop containing nucleoside triphosphate hydrolases AXIN2 8313 genome.wustl.edu 37 17 63545706 63545706 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004655.3 -1 reviewed p.S296 0.943 16 0% 20 40% 3 33.3% - - - NULL SEPT9 10801 genome.wustl.edu 37 17 75398287 75398287 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001113491.1 +1 reviewed p.A75T 0.690 31 0% 39 61.5% 23 39.1% benign(0.011) tolerated(0.35) neutral(0.021) NULL DNAH17 8632 genome.wustl.edu 37 17 76475712 76475712 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000389840 -1 known p.R2571 0.980 109 0% 95 27.4% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ALYREF 10189 genome.wustl.edu 37 17 79847124 79847124 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005782.3 -1 reviewed p.V151M 0.998 42 0% 34 32.4% 42 28.5% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 TBCD 6904 genome.wustl.edu 37 17 80885165 80885165 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005993.4 +1 reviewed p.Y859H 1.000 21 0% 23 17.4% 28 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat DLGAP1 9229 genome.wustl.edu 37 18 3879769 3879769 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004746.2 -1 provisional p.P100 0.021 19 0% 10 40% 0 - - - - NULL ZFP161 7541 genome.wustl.edu 37 18 5291269 5291269 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001143823.1 -1 validated p.G313V 1.000 60 0% 68 38.2% 2 0% benign(0.032) deleterious(0.01) neutral(0.407) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 APCDD1 147495 genome.wustl.edu 37 18 10485616 10485616 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_153000.4 +1 validated p.R311H 1.000 197 0% 35 37.1% 49 8.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CTAGE1 64693 genome.wustl.edu 37 18 19996313 19996313 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_172241.2 -1 validated p.Y488H 0.122 676 0% 584 40.1% 0 - probably_damaging(0.965) tolerated(0.05) deleterious(0.752) NULL DSG1 1828 genome.wustl.edu 37 18 28934819 28934819 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001942.2 +1 reviewed p.R887Q 0.985 287 0% 324 23.5% 0 - possibly_damaging(0.95) tolerated(0.2) neutral(0.443) NULL MCART2 147407 genome.wustl.edu 37 18 29340474 29340474 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001034172.2 -1 validated p.I51V 0.998 190 0% 254 22% 0 - benign(0) tolerated(0.42) neutral(0.014) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr ASXL3 80816 genome.wustl.edu 37 18 31325928 31325928 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_030632.1 +1 provisional p.P2039H 0.848 11 0.000 9 0.556 0 - possibly_damaging(0.863) deleterious(0) deleterious(0.778) NULL TNFRSF11A 8792 genome.wustl.edu 37 18 60036509 60036509 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003839.2 +1 reviewed p.P453 0.098 34 0% 37 45.9% 0 - - - - NULL SERPINB12 89777 genome.wustl.edu 37 18 61231352 61231352 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_080474.1 +1 provisional p.A215V 0.995 221 0% 254 35.8% 0 - benign(0.03) tolerated(0.08) neutral(0.301) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin RTTN 25914 genome.wustl.edu 37 18 67806906 67806906 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_173630.3 -1 validated p.V906A 0.146 417 0.2% 794 27% 0 - benign(0.011) deleterious(0.01) neutral(0.406) NULL ZNF407 55628 genome.wustl.edu 37 18 72632559 72632559 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_017757.2 +1 reviewed p.Y1780C 0.577 66 0% 106 25.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ADNP2 22850 genome.wustl.edu 37 18 77895310 77895310 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014913.3 +1 validated p.V672M 0.000 51 0% 41 29.3% 4 25% benign(0) tolerated(0.22) neutral(0.042) NULL EEF2 1938 genome.wustl.edu 37 19 3981438 3981438 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001961.3 -1 reviewed p.I304V 0.998 70 0% 72 15.3% 206 0.4% benign(0) tolerated(0.45) neutral(0.012) HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases FEM1A 55527 genome.wustl.edu 37 19 4792785 4792785 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018708.2 +1 validated p.T307A 1.000 42 0% 24 41.7% 5 40% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_ANK FEM1A 55527 genome.wustl.edu 37 19 4793028 4793028 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018708.2 +1 validated p.D388N 1.000 53 0% 40 47.5% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ANK PTPRS 5802 genome.wustl.edu 37 19 5210529 5210529 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002850.3 -1 reviewed p.Y1813C 1.000 29 0% 56 30.4% 24 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II FUT6 2528 genome.wustl.edu 37 19 5832140 5832140 + Missense_Mutation SNP C C G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000150.2 -1 reviewed p.A147P 0.005 25 0% 11 63.6% 0 - benign(0.022) tolerated(0.22) neutral(0.043) HMMPfam_Glyco_transf_10 SLC25A23 79085 genome.wustl.edu 37 19 6454401 6454401 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_024103.2 -1 validated p.R243H 1.000 72 0% 70 42.9% 10 40% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr EMR1 2015 genome.wustl.edu 37 19 6924857 6924857 + Missense_Mutation SNP G G A rs188529490 by1000genomes TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001974.3 +1 reviewed p.A654T 0.090 448 0% 295 36.3% 1 0% benign(0) tolerated(0.69) neutral(0.002) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like ZNF699 374879 genome.wustl.edu 37 19 9407498 9407498 + Silent SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_198535.1 -1 provisional p.S194 0.001 208 0% 256 40.2% 0 - - - - superfamily_SSF57667 P2RY11 5032 genome.wustl.edu 37 19 10224597 10224597 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002566.4 +1 reviewed p.R103H 0.998 27 0% 24 45.8% 12 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like KEAP1 9817 genome.wustl.edu 37 19 10610156 10610156 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012289.3 -1 reviewed p.I185T 1.000 26 0% 20 30% 8 37.5% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_BACK ZNF700 90592 genome.wustl.edu 37 19 12059358 12059358 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_144566.1 +1 provisional p.K173 0.621 286 0% 284 26.1% 6 50% - - - superfamily_C2H2 and C2HC zinc fingers ZNF709 163051 genome.wustl.edu 37 19 12575674 12575674 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152601.3 -1 validated p.H354 0.004 197 0% 248 40.7% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LPAR2 9170 genome.wustl.edu 37 19 19737965 19737965 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004720.5 -1 reviewed p.S43 0.970 12 0% 16 50% 11 36.3% - - - superfamily_SSF81321 ZNF486 90649 genome.wustl.edu 37 19 20296826 20296826 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_052852.2 +1 provisional p.T63I 0.066 304 0% 325 40% 0 - possibly_damaging(0.532) tolerated(0.11) neutral(0.452) HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF486 90649 genome.wustl.edu 37 19 20308278 20308278 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_052852.2 +1 provisional p.F253 0.007 284 0% 207 22.7% 2 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC100287226 100287226 genome.wustl.edu 37 19 22497378 22497378 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 XM_002343636.1 +1 model p.W254R 0.000 509 0% 511 13.5% 0 - probably_damaging(0.954) tolerated(0.36) neutral(0.418) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RPSAP58 388524 genome.wustl.edu 37 19 24010209 24010209 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000354585 +1 known p.T82 1.000 37 0% 44 27.3% 118 0% - - - HMMPfam_Ribosomal_S2,superfamily_Ribosomal_S2 ZNF726 730087 genome.wustl.edu 37 19 24115723 24115723 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000322487 +1 known p.S269P 0.000 113 0% 122 26.2% 0 - benign(0.017) tolerated(0.35) neutral(0.021) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CEP89 84902 genome.wustl.edu 37 19 33428560 33428560 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032816.3 -1 validated p.C215Y 0.227 267 0% 267 21.3% 2 50% benign(0.026) tolerated(1) neutral(0.001) NULL FAM187B 148109 genome.wustl.edu 37 19 35715879 35715879 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152481.1 -1 provisional p.R320M 0.000 27 0% 18 38.9% 0 - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL KIRREL2 84063 genome.wustl.edu 37 19 36355566 36355566 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_199180.2 +1 validated p.T581I 0.039 69 0% 63 36.5% 0 - probably_damaging(0.959) deleterious(0.02) deleterious(0.786) NULL HCST 10870 genome.wustl.edu 37 19 36394287 36394287 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014266.3 +1 reviewed p.S26 0.000 110 0% 57 33.3% 31 3.2% - - - HMMPfam_DAP10 SIPA1L3 23094 genome.wustl.edu 37 19 38682871 38682871 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015073.1 +1 validated p.Y1506C 1.000 36 0% 60 21.7% 4 25% probably_damaging(0.999) tolerated(0.19) deleterious(0.540) NULL CATSPERG 57828 genome.wustl.edu 37 19 38860873 38860873 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_021185.4 +1 validated p.P1063H 0.000 71 0% 43 39.5% 1 0% possibly_damaging(0.849) deleterious(0.01) deleterious(0.732) NULL RYR1 6261 genome.wustl.edu 37 19 39018985 39018985 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000540.2 +1 reviewed p.K3622E 1.000 85 0% 62 21% 0 - probably_damaging(0.997) - - NULL SUPT5H 6829 genome.wustl.edu 37 19 39955574 39955574 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001111020.2 +1 validated p.M254T 1.000 73 0% 71 35.2% 10 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Supt5,HMMSmart_SM00738 SUPT5H 6829 genome.wustl.edu 37 19 39955602 39955602 + Silent SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001111020.2 +1 validated p.V263 0.999 84 0% 79 38% 10 10% - - - HMMPfam_Supt5,HMMSmart_SM00738 LOC148003 148003 genome.wustl.edu 37 19 40149114 40149114 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 XM_001721341.1 +1 model p.L66P 0.684 61 0% 99 36.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gal-bind_lectin,HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases HNRNPUL1 11100 genome.wustl.edu 37 19 41809939 41809941 + In_Frame_Del DEL AAC AAC - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_007040.3 +1 reviewed p.N681in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL CEACAM21 90273 genome.wustl.edu 37 19 42085894 42085894 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001098506.1 +1 validated p.R205G 0.000 55 0% 59 39% 4 0% probably_damaging(0.965) deleterious(0.02) deleterious(0.790) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ZNF526 116115 genome.wustl.edu 37 19 42729648 42729648 + Missense_Mutation SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_133444.1 +1 provisional p.C365S 1.000 45 0% 41 17.1% 2 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CIC 23152 genome.wustl.edu 37 19 42798425 42798425 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015125.3 +1 validated p.C1432 0.982 13 0% 14 35.7% 33 60.6% - - - NULL PHLDB3 653583 genome.wustl.edu 37 19 43982215 43982215 + Nonsense_Mutation SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_198850.3 -1 validated p.L591* 1.000 28 0% 28 28.6% 4 75% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ZNF221 7638 genome.wustl.edu 37 19 44469198 44469198 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_013359.2 +1 validated p.L60 0.898 336 0% 375 36.5% 0 - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) CKM 1158 genome.wustl.edu 37 19 45818799 45818799 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001824.2 -1 reviewed p.R135 1.000 51 0% 35 17.1% 0 - - - - HMMPfam_ATP-gua_Ptrans,superfamily_SSF55931 SYMPK 8189 genome.wustl.edu 37 19 46332333 46332333 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004819.2 -1 reviewed p.Y627C 1.000 67 0% 50 22% 23 56.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat CARD8 22900 genome.wustl.edu 37 19 48733801 48733801 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014959.3 -1 reviewed p.R204H 0.000 241 0% 236 42.8% 5 40% probably_damaging(0.987) tolerated(0.06) deleterious(0.759) NULL LMTK3 114783 genome.wustl.edu 37 19 49001376 49001376 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001080434.1 -1 provisional p.A1013T 0.056 78 0% 64 18.8% 1 0% unknown(0) deleterious(0) - HMMSmart_SM00220 GYS1 2997 genome.wustl.edu 37 19 49494701 49494701 + Missense_Mutation SNP A A C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002103.4 -1 reviewed p.V53G 1.000 46 0% 39 10.3% 1 0% benign(0) deleterious(0) neutral(0.445) HMMPfam_Glycogen_syn IZUMO2 126123 genome.wustl.edu 37 19 50666318 50666318 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152358.2 -1 validated p.Q45R 0.446 34 0% 21 23.8% 0 - possibly_damaging(0.484) tolerated(0.16) neutral(0.220) NULL KLK4 9622 genome.wustl.edu 37 19 51412021 51412021 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004917.3 -1 reviewed p.V97M 0.000 70 0% 48 50% 0 - benign(0.001) tolerated(0.22) neutral(0.042) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases FPR2 2358 genome.wustl.edu 37 19 52272780 52272780 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001005738.1 +1 validated p.L290P 0.999 219 0% 262 24% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PPP2R1A 5518 genome.wustl.edu 37 19 52716266 52716266 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014225.5 +1 reviewed p.Q237R 1.000 32 0% 27 44.4% 90 50% benign(0) tolerated(0.42) neutral(0.014) superfamily_ARM repeat ZNF600 162966 genome.wustl.edu 37 19 53270004 53270004 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_198457.2 -1 validated p.C335 1.000 817 0% 581 24.6% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF525 170958 genome.wustl.edu 37 19 53883996 53883996 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000474037 +1 known p.M55T 0.004 342 0% 273 18.7% 0 - possibly_damaging(0.575) tolerated(0.13) neutral(0.450) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF761 388561 genome.wustl.edu 37 19 53959462 53959462 + Silent SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001008401.3 +1 validated p.R567 0.013 304 0% 258 19% 3 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 TMC4 147798 genome.wustl.edu 37 19 54673367 54673367 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001145303.1 -1 validated p.Y115H 0.000 86 0% 61 37.7% 20 45% benign(0.077) tolerated(0.47) neutral(0.017) NULL LAIR1 3903 genome.wustl.edu 37 19 54872667 54872667 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002287.3 -1 reviewed p.V74M 0.000 194 0% 134 35.1% 1 0% probably_damaging(0.979) deleterious(0.04) deleterious(0.771) HMMSmart_SM00409,superfamily_Immunoglobulin LILRB1 10859 genome.wustl.edu 37 19 55148307 55148307 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001081637.1 +1 reviewed p.Y646C 0.000 44 0% 35 37.1% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIR3DL1 3811 genome.wustl.edu 37 19 55329899 55329899 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_013289.2 +1 reviewed p.H67R 0.000 356 0% 273 34.8% 0 - possibly_damaging(0.797) tolerated(0.43) neutral(0.313) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin U2AF2 11338 genome.wustl.edu 37 19 56170576 56170576 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_007279.2 +1 reviewed p.E17G 1.000 13 0% 12 41.7% 21 33.3% possibly_damaging(0.49) deleterious(0.01) deleterious(0.569) NULL ZNF587 84914 genome.wustl.edu 37 19 58370389 58370389 + Silent SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000339656 +1 known p.P203 0.007 731 0% 604 11.3% 0 - - - - NULL ZNF417 147687 genome.wustl.edu 37 19 58421037 58421037 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152475.2 -1 validated p.P203 0.000 226 0% 173 15% 0 - - - - NULL ZNF606 80095 genome.wustl.edu 37 19 58500064 58500064 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_025027.3 -1 validated p.A68V 0.997 546 0% 523 13.8% 2 0% probably_damaging(0.979) tolerated(0.18) deleterious(0.478) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) TGM3 7053 genome.wustl.edu 37 20 2308948 2308948 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003245.3 +1 reviewed p.S424G 1.000 57 0% 45 11.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cysteine proteinases SNRPB 6628 genome.wustl.edu 37 20 2444404 2444404 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_198216.1 -1 reviewed p.P137T 1.000 273 0% 377 12.7% 155 1.2% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL PTPRA 5786 genome.wustl.edu 37 20 3016504 3016504 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002836.3 +1 reviewed p.D705 0.144 55 0% 56 39.3% 29 27.5% - - - HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 MAVS 57506 genome.wustl.edu 37 20 3838369 3838369 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020746.3 +1 validated p.V69L 0.998 159 0% 74 24.3% 4 0% probably_damaging(0.989) deleterious(0.05) deleterious(0.785) NULL C20orf94 128710 genome.wustl.edu 37 20 10579364 10579364 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001009608.1 +1 validated p.I94V 1.000 107 0% 188 21.8% 0 - benign(0.001) tolerated(0.64) neutral(0.003) NULL OTOR 56914 genome.wustl.edu 37 20 16729565 16729565 + Missense_Mutation SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020157.2 +1 reviewed p.F57I 1.000 167 0% 248 31.5% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_SH3,superfamily_SH3,HMMPfam_SH3_2 CSTL1 128817 genome.wustl.edu 37 20 23421000 23421000 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_138283.1 +1 reviewed p.Q32 0.994 224 0% 202 44.6% 0 - - - - HMMSmart_CY,superfamily_SSF54403 FOXS1 2307 genome.wustl.edu 37 20 30432830 30432830 + Silent SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004118.3 -1 reviewed p.A172 0.206 27 0% 21 47.6% 8 0% - - - NULL MAPRE1 22919 genome.wustl.edu 37 20 31413761 31413761 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012325.2 +1 reviewed p.V10M 1.000 169 0% 133 27.1% 6 0% probably_damaging(0.972) tolerated(0.16) deleterious(0.473) superfamily_Calponin-homology domain CH-domain BPIFB1 92747 genome.wustl.edu 37 20 31878893 31878893 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_033197.2 +1 reviewed p.R166C 0.983 48 0% 40 27.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LBP_BPI_CETP,HMMSmart_SM00328,superfamily_Bactericidal permeability-increasing protein BPI ZNF341 84905 genome.wustl.edu 37 20 32349788 32349788 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032819.3 +1 validated p.T376 0.996 180 0% 144 11.1% 0 - - - - NULL GGT7 2686 genome.wustl.edu 37 20 33447405 33447405 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_178026.2 -1 reviewed p.S285 0.653 6 0.000 8 0.625 8 37.5% - - - HMMPfam_G_glu_transpept UQCC 55245 genome.wustl.edu 37 20 33934881 33934881 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000397554 -1 known p.C220F 0.675 111 0% 125 42.4% 1 0% possibly_damaging(0.449) - - NULL RBM39 9584 genome.wustl.edu 37 20 34302173 34302173 + Missense_Mutation SNP G G C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_184234.1 -1 reviewed p.L344V 1.000 183 0% 222 37.4% 53 33.9% possibly_damaging(0.804) tolerated(0.51) neutral(0.311) NULL PLCG1 5335 genome.wustl.edu 37 20 39794947 39794947 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002660.2 +1 reviewed p.H638R 1.000 32 0% 45 37.8% 9 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH2,HMMSmart_SH2,HMMSmart_PH,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF50729,superfamily_SSF55550 ZSWIM1 90204 genome.wustl.edu 37 20 44511475 44511475 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_080603.4 +1 validated p.H82Y 1.000 140 0% 103 38.8% 5 60% probably_damaging(0.989) tolerated(0.26) deleterious(0.474) NULL TSHZ2 128553 genome.wustl.edu 37 20 51872879 51872879 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_173485.4 +1 validated p.V961A 1.000 156 0% 147 37.4% 0 - benign(0.001) tolerated(0.54) neutral(0.007) NULL TFAP2C 7022 genome.wustl.edu 37 20 55211802 55211802 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003222.3 +1 reviewed p.L353 0.983 121 0% 132 20.5% 3 0% - - - HMMPfam_TF_AP-2 TFAP2C 7022 genome.wustl.edu 37 20 55211803 55211803 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003222.3 +1 reviewed p.A354S 1.000 120 0% 131 20.6% 3 0% possibly_damaging(0.575) tolerated(0.13) neutral(0.450) HMMPfam_TF_AP-2 SPO11 23626 genome.wustl.edu 37 20 55909835 55909835 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012444.2 +1 reviewed p.G180 0.996 53 0% 77 29.9% 0 - - - - superfamily_DNA topoisomerase IV alpha subunit APCDD1L 164284 genome.wustl.edu 37 20 57035930 57035930 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_153360.1 -1 provisional p.K474 0.000 38 0% 36 30.6% 0 - - - - NULL TH1L 51497 genome.wustl.edu 37 20 57568581 57568581 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_198976.1 +1 reviewed p.Q483 1.000 76 0% 92 37% 43 39.5% - - - HMMPfam_TH1 SYCP2 10388 genome.wustl.edu 37 20 58494631 58494631 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014258.2 -1 reviewed p.S107P 0.998 73 0% 97 28.9% 0 - probably_damaging(0.992) tolerated(0.09) deleterious(0.744) NULL FAM217B 63939 genome.wustl.edu 37 20 58519501 58519501 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_022106.1 +1 predicted p.T168M 0.000 66 0% 108 24.1% 0 - possibly_damaging(0.949) deleterious(0.03) deleterious(0.758) NULL CDH4 1002 genome.wustl.edu 37 20 59829979 59829979 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001794.2 +1 reviewed p.E52G 1.000 43 0% 69 30.4% 0 - benign(0.006) deleterious(0.02) neutral(0.383) HMMPfam_Cadherin_pro,superfamily_Cadherin TIAM1 7074 genome.wustl.edu 37 21 32598204 32598204 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003253.2 -1 validated p.A549 0.005 94 0% 115 37.4% 0 - - - - HMMSmart_PH,superfamily_SSF50729 IFNAR2 3455 genome.wustl.edu 37 21 34635805 34635805 + Nonstop_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_207585.1 +1 reviewed p.*516W 0.149 109 0% 87 32.2% 3 0% - - - NULL ERG 2078 genome.wustl.edu 37 21 39817445 39817445 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001136154.1 -1 validated p.D47N 1.000 54 0% 48 39.6% 2 100% benign(0.188) tolerated(0.06) neutral(0.340) NULL AGPAT3 56894 genome.wustl.edu 37 21 45389132 45389132 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001037553.1 +1 reviewed p.R161H 0.083 27 0% 25 48% 0 - benign(0.036) tolerated(0.21) neutral(0.046) HMMPfam_Acyltransferase,HMMSmart_SM00563 TUBA8 51807 genome.wustl.edu 37 22 18613670 18613670 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018943.1 +1 provisional p.R373W 1.000 54 0% 40 45% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C PI4KA 5297 genome.wustl.edu 37 22 21104257 21104257 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_058004.2 -1 reviewed p.R1002H 1.000 50 0% 38 39.5% 5 20% possibly_damaging(0.925) tolerated(0.07) deleterious(0.693) NULL CABIN1 23523 genome.wustl.edu 37 22 24455783 24455783 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012295.2 +1 reviewed p.G452 0.436 30 0% 39 46.2% 0 - - - - NULL MYO18B 84700 genome.wustl.edu 37 22 26298584 26298584 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_032608.5 +1 reviewed p.D1610N 1.000 25 0% 34 14.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DRG1 4733 genome.wustl.edu 37 22 31819288 31819288 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004147.3 +1 validated p.A202V 1.000 522 0% 508 23.6% 15 66.6% benign(0.002) tolerated(0.07) neutral(0.319) superfamily_P-loop containing nucleoside triphosphate hydrolases SFI1 9814 genome.wustl.edu 37 22 32007131 32007131 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001007467.1 +1 validated p.C753R 0.009 30 0% 23 39.1% 1 100% benign(0.001) tolerated(0.67) neutral(0.003) NULL SYN3 8224 genome.wustl.edu 37 22 32929805 32929805 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_003490.3 -1 reviewed p.K357E 1.000 44 0% 28 32.1% 1 0% unknown(0) deleterious(0) - HMMPfam_Synapsin_C,superfamily_Glutathione synthetase ATP-binding domain-like FOXRED2 80020 genome.wustl.edu 37 22 36897332 36897332 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001102371.1 -1 validated p.Y391C 1.000 147 0.7% 75 28% 6 66.6% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SH3BP1 23616 genome.wustl.edu 37 22 38046679 38046679 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018957.3 +1 validated p.P515 0.000 38 0% 29 44.8% 19 26.3% - - - NULL SREBF2 6721 genome.wustl.edu 37 22 42262839 42262839 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004599.2 +1 reviewed p.M31I 1.000 318 0% 218 34.9% 3 33.3% possibly_damaging(0.612) deleterious(0) deleterious(0.656) NULL TCF20 6942 genome.wustl.edu 37 22 42610262 42610262 + Silent SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005650.1 -1 reviewed p.P350 0.866 266 0% 207 25.6% 1 0% - - - NULL NUP50 10762 genome.wustl.edu 37 22 45571835 45571835 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_007172.3 +1 reviewed p.R72C 1.000 104 0% 89 38.2% 1 100% possibly_damaging(0.869) tolerated(0.05) deleterious(0.682) HMMPfam_NUP50 CELSR1 9620 genome.wustl.edu 37 22 46929869 46929869 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_014246.1 -1 reviewed p.R1067W 0.129 16 0.000 9 0.444 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CRELD2 79174 genome.wustl.edu 37 22 50315313 50315313 + Frame_Shift_Del DEL T T - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_024324.3 +1 validated p.C166fs 1.000 - - - - - - - - - PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_Growth factor receptor domain,PatternScan_EGF_1,PatternScan_EGF_2 TUBGCP6 85378 genome.wustl.edu 37 22 50664798 50664798 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020461.3 -1 reviewed p.H537 0.575 12 0% 16 25% 2 50% - - - HMMPfam_Spc97_Spc98 CPT1B 1375 genome.wustl.edu 37 22 51009332 51009334 + In_Frame_Del DEL AGG AGG - novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001145135.1 -1 reviewed p.P672in_frame_del 0.835:1.000:1.000 - - - - - - - - - HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases MXRA5 25878 genome.wustl.edu 37 X 3242712 3242712 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015419.3 -1 reviewed p.K338 0.144 46 0% 79 25.3% 0 - - - - NULL NHS 4810 genome.wustl.edu 37 X 17710558 17710558 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_198270.2 +1 reviewed p.R274 0.990 132 0% 110 10% 0 - - - - NULL MBTPS2 51360 genome.wustl.edu 37 X 21886608 21886608 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015884.3 +1 reviewed p.A232T 1.000 591 0% 718 34.1% 2 0% benign(0.41) tolerated(0.05) deleterious(0.478) HMMPfam_Peptidase_M50 DDX53 168400 genome.wustl.edu 37 X 23018859 23018859 + Nonsense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_182699.2 +1 validated p.Q229* 0.000 167 0% 184 40.8% 0 - - - - superfamily_SSF52540 KLHL15 80311 genome.wustl.edu 37 X 24006900 24006900 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_030624.2 -1 reviewed p.R318Q 0.999 231 0% 223 35.9% 0 - possibly_damaging(0.93) tolerated(0.26) neutral(0.410) HMMPfam_Kelch_1,superfamily_Gal_oxid_central KLHL15 80311 genome.wustl.edu 37 X 24024380 24024380 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_030624.2 -1 reviewed p.G144D 1.000 324 0% 388 26.5% 0 - benign(0.053) tolerated(0.06) neutral(0.326) HMMPfam_BACK PDK3 5165 genome.wustl.edu 37 X 24546223 24546223 + Nonsense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001142386.2 +1 reviewed p.R295* 0.994 148 0% 163 39.9% 5 0% - - - HMMPfam_HATPase_c,HMMSmart_HATPase_c,superfamily_ATP_bd_ATPase TAB3 257397 genome.wustl.edu 37 X 30861148 30861148 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_152787.3 -1 reviewed p.A608V 1.000 70 0% 81 16% 1 0% possibly_damaging(0.456) deleterious(0.02) deleterious(0.532) NULL FAM47C 442444 genome.wustl.edu 37 X 37027062 37027062 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001013736.2 +1 validated p.T193 0.621 138 0.7% 121 29.8% 0 - - - - NULL XK 7504 genome.wustl.edu 37 X 37553588 37553588 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_021083.2 +1 reviewed p.P99S 1.000 38 0% 37 24.3% 1 0% probably_damaging(0.991) deleterious(0.04) deleterious(0.793) HMMPfam_XK-related USP9X 8239 genome.wustl.edu 37 X 40996188 40996188 + Silent SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001039590.2 +1 reviewed p.G189 1.000 222 0% 289 26.3% 0 - - - - NULL GPR34 2857 genome.wustl.edu 37 X 41555357 41555357 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001097579.1 +1 validated p.N157 0.368 213 0% 236 30.1% 1 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like EFHC2 80258 genome.wustl.edu 37 X 44108082 44108082 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_025184.3 -1 validated p.T313I 0.000 45 0% 56 10.7% 0 - - - - NULL ARAF 369 genome.wustl.edu 37 X 47428426 47428426 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001654.3 +1 reviewed p.S432P 1.000 19 0% 19 47.4% 9 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase SLC38A5 92745 genome.wustl.edu 37 X 48324703 48324703 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_033518.2 -1 validated p.R109Q 1.000 9 0.000 11 0.455 1 0% probably_damaging(0.998) tolerated(0.39) deleterious(0.490) HMMPfam_Aa_trans CCNB3 85417 genome.wustl.edu 37 X 50053584 50053584 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_033031.2 +1 reviewed p.Q805 0.000 93 0% 101 36.6% 0 - - - - NULL XAGE3 170626 genome.wustl.edu 37 X 52895553 52895553 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_130776.1 -1 reviewed p.E32 0.000 230 0% 224 16.1% 0 - - - - HMMPfam_GAGE GPR173 54328 genome.wustl.edu 37 X 53106059 53106059 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018969.5 +1 reviewed p.G86S 1.000 21 0% 24 16.7% 0 - benign(0.011) deleterious(0.03) neutral(0.365) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like WNK3 65267 genome.wustl.edu 37 X 54265351 54265351 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_020922.4 -1 reviewed p.Y1278C 1.000 128 0% 111 36.9% 0 - probably_damaging(1) tolerated(0.3) deleterious(0.528) NULL FAAH2 158584 genome.wustl.edu 37 X 57318939 57318939 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_174912.3 +1 reviewed p.C67 0.945 205 0% 235 23.8% 0 - - - - superfamily_Amidase signature (AS) enzymes ZXDB 158586 genome.wustl.edu 37 X 57619724 57619724 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_007157.3 +1 validated p.R415C 0.990 119 0% 138 30.4% 1 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 ARHGEF9 23229 genome.wustl.edu 37 X 62875608 62875608 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_015185.2 -1 reviewed p.R356W 1.000 401 0% 748 38% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 ZC3H12B 340554 genome.wustl.edu 37 X 64718907 64718907 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001010888.3 +1 reviewed p.K248N 0.997 457 0% 538 37% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL MSN 4478 genome.wustl.edu 37 X 64949443 64949443 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_002444.2 +1 reviewed p.N112 1.000 150 0% 161 41.6% 16 12.5% - - - HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 KIF4A 24137 genome.wustl.edu 37 X 69639626 69639626 + Missense_Mutation SNP A A T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_012310.4 +1 reviewed p.N1163I 0.963 199 0% 162 23.5% 2 0% possibly_damaging(0.471) deleterious(0.04) deleterious(0.504) NULL TAF1 6872 genome.wustl.edu 37 X 70595076 70595076 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004606.3 +1 reviewed p.P158S 0.976 219 0% 219 26.5% 0 - probably_damaging(0.954) deleterious(0.01) deleterious(0.803) NULL TAF1 6872 genome.wustl.edu 37 X 70602461 70602461 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_004606.3 +1 reviewed p.K558R 1.000 298 0% 288 42.4% 3 0% possibly_damaging(0.719) tolerated(0.11) deleterious(0.532) NULL JPX 554203 genome.wustl.edu 37 X 73289218 73289218 + RNA SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NR_024582.1 +1 validated NULL 0.571 30 0% 26 50% 0 - - - - - DIAPH2 1730 genome.wustl.edu 37 X 96194341 96194341 + Missense_Mutation SNP C C G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006729.4 +1 reviewed p.L429V 1.000 133 0% 129 38% 1 100% unknown(0) deleterious(0) - HMMPfam_Drf_FH3 DIAPH2 1730 genome.wustl.edu 37 X 96684736 96684736 + Missense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006729.4 +1 reviewed p.R1078M 1.000 131 0% 108 36.1% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL AMOT 154796 genome.wustl.edu 37 X 112054508 112054508 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001113490.1 -1 reviewed p.R502 0.030 408 0% 388 37.9% 2 0% - - - NULL AGTR2 186 genome.wustl.edu 37 X 115304003 115304003 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000686.4 +1 reviewed p.P157H 0.940 405 0% 686 32.8% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MIR1277 100302214 genome.wustl.edu 37 X 117520365 117520366 + RNA INS - - AT novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000408536 +1 known NULL 1.000:0.986 - - - - - - - - - - WDR44 54521 genome.wustl.edu 37 X 117540961 117540961 + Missense_Mutation SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_019045.4 +1 reviewed p.V502A 1.000 302 0% 373 42.6% 0 - possibly_damaging(0.888) tolerated(0.26) neutral(0.381) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ENSG00000223499 0 genome.wustl.edu 37 X 118207876 118207876 + Nonsense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000419982 +1 known p.E197* 0.000 104 0% 86 37.2% 0 - - - - NULL GRIA3 2892 genome.wustl.edu 37 X 122536914 122536914 + Missense_Mutation SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000264357 +1 known p.D384N 1.000 378 0% 494 38.1% 0 - probably_damaging(0.975) tolerated(0.23) neutral(0.458) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I THOC2 57187 genome.wustl.edu 37 X 122747262 122747262 + Silent SNP G G A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 ENST00000441692 -1 known p.P350L 0.849 355 0.3% 522 36.2% 15 0% - - - NULL THOC2 57187 genome.wustl.edu 37 X 122756959 122756959 + Missense_Mutation SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001081550.1 -1 validated p.T1227S 1.000 298 0% 375 10.7% 7 0% benign(0.001) tolerated(0.59) neutral(0.004) NULL UTP14A 10813 genome.wustl.edu 37 X 129055245 129055245 + Nonsense_Mutation SNP G G T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_006649.3 +1 reviewed p.E344* 1.000 152 0% 142 21.1% 7 0% - - - HMMPfam_Utp14 IGSF1 3547 genome.wustl.edu 37 X 130408759 130408759 + Missense_Mutation SNP C C A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001555.4 -1 reviewed p.G1189C 0.873 570 0% 568 37.5% 0 - probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin SAGE1 55511 genome.wustl.edu 37 X 134990290 134990290 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_018666.2 +1 reviewed p.N401S 0.007 373 0% 331 41.4% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL SLC9A6 10479 genome.wustl.edu 37 X 135067766 135067766 + Silent SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001042537.1 +1 reviewed p.G35 0.009 125 0% 98 32.7% 0 - - - - NULL GPR112 139378 genome.wustl.edu 37 X 135441529 135441529 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_153834.3 +1 reviewed p.I2353M 0.915 563 0% 789 13.2% 0 - probably_damaging(0.995) - - NULL GPR112 139378 genome.wustl.edu 37 X 135488111 135488111 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_153834.3 +1 reviewed p.A2972V 1.000 443 0% 342 10.2% 0 - probably_damaging(0.992) deleterious(0.04) deleterious(0.796) HMMPfam_7tm_2 MAGEC1 9947 genome.wustl.edu 37 X 140994246 140994246 + Silent SNP T T C novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005462.4 +1 reviewed p.S352 0.120 953 0% 873 26% 0 - - - - NULL UBE2NL 389898 genome.wustl.edu 37 X 142967509 142967509 + Missense_Mutation SNP C C T novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001012989.1 +1 reviewed p.R103C 1.000 235 0% 276 11.6% 0 - possibly_damaging(0.851) deleterious(0) deleterious(0.772) HMMPfam_UQ_con,HMMSmart_UBCc,superfamily_UBQ-conjugat/RWD-like MAMLD1 10046 genome.wustl.edu 37 X 149639324 149639325 + In_Frame_Ins INS - - CAG novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_005491.3 +1 reviewed p.497in_frame_insQ 0.002:0.006 - - - - - - - - - NULL GABRA3 2556 genome.wustl.edu 37 X 151336901 151336901 + Silent SNP T T A novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_000808.3 -1 reviewed p.S426 0.577 412 0% 450 11.3% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM DNASE1L1 1774 genome.wustl.edu 37 X 153633185 153633185 + Missense_Mutation SNP A A G novel TCGA-AX-A063-01A-11W-A027-09 TCGA-AX-A063-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9462422b-340f-4433-bbdd-5a3d5b7bbe5e bf65292a-2920-48b7-96c3-d2859d3bf7c1 NM_001009932.1 -1 reviewed p.Y99H 0.971 15 0% 21 57.1% 13 84.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos,HMMSmart_DNaseIc