Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error PRAMEF12 390999 genome.wustl.edu 36 1 12759868 12759868 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 1 12759868 12759868 C A SNP PRAMEF12 NM_001080830 human genbank 54_36p 1 provisional missense c.991 p.L331M 0.03 NULL - - no_errors CELA2A 63036 genome.wustl.edu 36 1 15665172 15665172 + Silent SNP C C T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 1 15665172 15665172 C T SNP ELA2A NM_033440 human genbank 54_36p 1 reviewed silent c.585 p.S195 0.07 NULL - - no_errors ASTN1 460 genome.wustl.edu 36 1 175181690 175181705 + Frame_Shift_Del DEL TGTTCCTTTCAGCACC TGTTCCTTTCAGCACC - Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 TGTTCCTTTCAGCACC TGTTCCTTTCAGCACC TGTTCCTTTCAGCACC - TGTTCCTTTCAGCACC TGTTCCTTTCAGCACC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 1 175181690 175181705 TGTTCCTTTCAGCACC - DEL ASTN1 NM_004319 human genbank 54_36p -1 validated frame_shift_del c.2244_2229 p.Q743fs 0.969:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:1.000 NULL superfamily_Fibronectin type III,superfamily_EGF/Laminin (deletion:cds_exon[175181685,175181879]) no_errors LAMC1 3915 genome.wustl.edu 36 1 181360492 181360492 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 1 181360492 181360492 T A SNP LAMC1 NM_002293 human genbank 54_36p 1 reviewed missense c.2505 p.D835E 1 HMMPfam_Laminin_EGF HMMPfam_Laminin_B;HMMPfam_Laminin_EGF;HMMPfam_Laminin_N;superfamily_Growth factor receptor domain;superfamily_EGF/Laminin - no_errors PLD5 200150 genome.wustl.edu 36 1 240354478 240354478 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 1 240354478 240354478 C A SNP PLD5 NM_152666 human genbank 54_36p -1 provisional missense c.572 p.W191L 1 NULL - - no_errors IQCC 55721 genome.wustl.edu 36 1 32444411 32444411 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 1 32444411 32444411 C G SNP IQCC NM_018134 human genbank 54_36p 1 provisional missense c.112 p.R38G 0.74 NULL - - no_errors SFPQ 6421 genome.wustl.edu 36 1 35427386 35427394 + In_Frame_Del DEL GATTTGCCT GATTTGCCT - Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 GATTTGCCT GATTTGCCT GATTTGCCT - GATTTGCCT GATTTGCCT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 1 35427386 35427394 GATTTGCCT - DEL SFPQ NM_005066 human genbank 54_36p -1 validated in_frame_del c.1600_1592 p.QAN531in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000 NULL HMMPfam_RRM_1,HMMPfam_NOPS,superfamily_RNA-binding domain RBD (deletion:cds_exon[35427374,35427570]) no_errors CUBN 8029 genome.wustl.edu 36 10 17020969 17020969 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 10 17020969 17020969 C G SNP CUBN NM_001081 human genbank 54_36p -1 reviewed missense c.5732 p.R1911T 1 HMMPfam_CUB HMMPfam_CUB;superfamily_Spermadhesin CUB domain;HMMPfam_EGF;HMMPfam_EGF_CA;superfamily_EGF/Laminin - no_errors DLG5 9231 genome.wustl.edu 36 10 79246325 79246325 + Silent SNP T T G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 10 79246325 79246325 T G SNP DLG5 NM_004747 human genbank 54_36p -1 reviewed silent c.4015 p.R1339 0.96 NULL - - no_errors FLI1 2313 genome.wustl.edu 36 11 128185583 128185583 + Silent SNP G G A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 11 128185583 128185583 G A SNP FLI1 NM_002017 human genbank 54_36p 1 validated silent c.849 p.L283 1 HMMPfam_Ets "HMMPfam_Ets;HMMPfam_SAM_PNT;superfamily_SAM/Pointed domain;superfamily_""Winged helix"" DNA-binding domain" - no_errors SLC1A2 6506 genome.wustl.edu 36 11 35265049 35265055 + Frame_Shift_Del DEL GAAAGGT GAAAGGT - Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 GAAAGGT GAAAGGT GAAAGGT - GAAAGGT GAAAGGT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 11 35265049 35265055 GAAAGGT - DEL SLC1A2 NM_004171 human genbank 54_36p -1 reviewed frame_shift_del c.1117_1111 p.T371fs 1.000:1.000:1.000:1.000:0.998:1.000:1.000 HMMPfam_SDF HMMPfam_SDF (deletion:cds_exon[35264880,35265074]) no_errors ADAMTS20 80070 genome.wustl.edu 36 12 42132705 42132705 + Silent SNP A A G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 12 42132705 42132705 A G SNP ADAMTS20 NM_025003 human genbank 54_36p -1 validated silent c.1821 p.T607 1 HMMPfam_TSP_1 "superfamily_Metalloproteases (""zincins"") catalytic domain;superfamily_TSP-1 type 1 repeat;TSP_1;HMMPfam_TSP_1;Reprolysin;HMMPfam_Reprolysin;Pep_M12B_propep;HMMPfam_Pep_M12B_propep;ADAM_spacer1;HMMPfam_ADAM_spacer1;GON;HMMPfam_GON" - no_errors LOC401717 401717 genome.wustl.edu 36 12 42341041 42341041 + RNA SNP C C T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 12 42341041 42341041 C T SNP LOC401717 XR_016218 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene KRT6A 3853 genome.wustl.edu 36 12 51173148 51173148 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 12 51173148 51173148 G C SNP KRT6A NM_005554 human genbank 54_36p -1 reviewed missense c.92 p.S31C 0.15 NULL - - no_errors NOP2 4839 genome.wustl.edu 36 12 6545552 6545552 + Silent SNP A C C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 A A C C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 12 6545552 6545552 A C SNP NOP2 NM_001033714 human genbank 54_36p -1 validated silent c.438 p.S146 NULL - - no_errors LNX2 222484 genome.wustl.edu 36 13 27053767 27053767 + Missense_Mutation SNP T A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 13 27053767 27053767 T A SNP LNX2 NM_153371 human genbank 54_36p -1 validated missense c.74 p.E25V 1 NULL HMMPfam_PDZ;superfamily_PDZ domain-like;HMMPfam_zf-C3HC4;superfamily_TRAF domain-like;superfamily_RING/U-box - no_errors AHNAK2 113146 genome.wustl.edu 36 14 104482768 104482768 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 14 104482768 104482768 G T SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated missense c.10065 p.D3355E NULL - - no_errors EXOC5 10640 genome.wustl.edu 36 14 56768188 56768188 + Splice_Site SNP T T C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 14 56768188 56768188 T C SNP EXOC5 NM_006544 human genbank 54_36p -1 reviewed splice_site c.939-2 e11-2 1 - - - no_errors ENSG00000181984 0 genome.wustl.edu 36 15 19037934 19037934 + Silent SNP G A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 15 19037934 19037934 G A SNP ENSG00000181984 ENST00000318268 human ensembl 54_36p 1 known silent c.1650 p.V550 0 NULL - - no_errors ELL3 80237 genome.wustl.edu 36 15 41853752 41853752 + Missense_Mutation SNP G A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 15 41853752 41853752 G A SNP ELL3 NM_025165 human genbank 54_36p -1 validated missense c.958 p.R320C 0.86 NULL - - no_errors GABPB1 2553 genome.wustl.edu 36 15 48383548 48383549 + Missense_Mutation DNP AC TA TA novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 AC AC TA TA AC AC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 15 48383548 48383549 AC TA DNP GABPB1 NM_005254 human genbank 54_36p -1 reviewed missense c.183_182 p.G61V 0.997:1.000 NULL - - no_errors TNRC6A 27327 genome.wustl.edu 36 16 24710529 24710530 + Missense_Mutation DNP GG GG TT novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 GG GG GG TT GG GG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 16 24710529 24710530 GG TT DNP TNRC6A NM_014494 human genbank 54_36p 1 reviewed missense c.3065_3066 p.W1022F 1.000:1.000 NULL - - no_errors SLC12A3 6559 genome.wustl.edu 36 16 55471577 55471577 + Missense_Mutation SNP G T T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 16 55471577 55471577 G T SNP SLC12A3 NM_000339 human genbank 54_36p 1 reviewed missense c.1478 p.G493V 1 NULL - - no_errors ZFHX3 463 genome.wustl.edu 36 16 71379382 71379382 + Missense_Mutation SNP A T T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 A A T T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 16 71379382 71379382 A T SNP ZFHX3 NM_006885 human genbank 54_36p -1 validated missense c.10294 p.S3432T 1 NULL HMMPfam_Homeobox,HMMPfam_zf-C2H2,superfamily_Homeodomain-like,superfamily_N-terminal domain of adenylylcyclase associated protein CAP,superfamily_C2H2 and C2HC zinc fingers - no_errors MYO19 80179 genome.wustl.edu 36 17 31957639 31957639 + Silent SNP C C A Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 17 31957639 31957639 C A SNP MYO19 NM_025109 human genbank 54_36p -1 validated silent c.156 p.L52 1 NULL - - no_errors C17orf71 55181 genome.wustl.edu 36 17 54643302 54643302 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 17 54643302 54643302 C T SNP C17orf71 NM_018149 human genbank 54_36p 1 validated missense c.1108 p.P370S 0.99 NULL - - no_errors TP53 7157 genome.wustl.edu 36 17 7518264 7518264 + Missense_Mutation SNP G A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1 HMMPfam_P53 superfamily_p53-like transcription factors;superfamily_p53 tetramerization domain;P53_tetramer;HMMPfam_P53_tetramer;P53;HMMPfam_P53;P53_TAD;HMMPfam_P53_TAD - no_errors RNF213 57674 genome.wustl.edu 36 17 75964249 75964249 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 17 75964249 75964249 T A SNP RNF213 NM_020914 human genbank 54_36p 1 validated missense c.7388 p.L2463H 0.51 NULL HMMPfam_zf-C3HC4;superfamily_P-loop containing nucleoside triphosphate hydrolases;superfamily_Nickel-iron hydrogenase small subunit;superfamily_RING/U-box - no_errors ALOX15B 247 genome.wustl.edu 36 17 7889617 7889617 + Missense_Mutation SNP C T T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 17 7889617 7889617 C T SNP ALOX15B NM_001141 human genbank 54_36p 1 reviewed missense c.1088 p.A363V 0.04 HMMPfam_Lipoxygenase HMMPfam_PLAT;HMMPfam_Lipoxygenase;superfamily_Lipoxigenase;superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) - no_errors DSC2 1824 genome.wustl.edu 36 18 26920671 26920671 + Nonsense_Mutation SNP T T A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 18 26920671 26920671 T A SNP DSC2 NM_024422 human genbank 54_36p -1 reviewed nonsense c.808 p.K270* 0.32 HMMPfam_Cadherin HMMPfam_Cadherin;HMMPfam_Cadherin_pro;superfamily_Cadherin-like - no_errors P2RY11 5032 genome.wustl.edu 36 19 10085364 10085364 + Silent SNP G G C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 19 10085364 10085364 G C SNP P2RY11 NM_002566 human genbank 54_36p 1 reviewed silent c.75 p.G25 NULL HMMPfam_7tm_1;superfamily_Family A G protein-coupled receptor-like - no_errors FCGBP 8857 genome.wustl.edu 36 19 45046321 45046321 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 19 45046321 45046321 C T SNP FCGBP NM_003890 human genbank 54_36p -1 validated missense c.15988 p.V5330M 0.01 HMMPfam_VWD HMMPfam_VWD;HMMPfam_TIL;superfamily_Serine proterase inhibitors;HMMPfam_TIL_assoc;superfamily_Concanavalin A-like lectins/glucanases;HMMPfam_DUF1787;superfamily_EGF/Laminin - no_errors MAMSTR 284358 genome.wustl.edu 36 19 53908385 53908385 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 19 53908385 53908385 G A SNP FLJ36070 NM_182574 human genbank 54_36p -1 validated missense c.890 p.S297F 0.97 NULL - - no_errors ETAA1 54465 genome.wustl.edu 36 2 67485182 67485182 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 2 67485182 67485182 C G SNP ETAA1 NM_019002 human genbank 54_36p 1 validated missense c.1864 p.Q622E 0.97 NULL - - no_errors CPXM1 56265 genome.wustl.edu 36 20 2726850 2726850 + Missense_Mutation SNP G A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 20 2726850 2726850 G A SNP CPXM1 NM_019609 human genbank 54_36p -1 reviewed missense c.538 p.H180Y 0.01 NULL - - no_errors MYT1 4661 genome.wustl.edu 36 20 62342189 62342189 + Missense_Mutation SNP G G C Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 20 62342189 62342189 G C SNP MYT1 NM_004535 human genbank 54_36p 1 reviewed missense c.3310 p.E1104Q 0.999 NULL HMMPfam_zf-C2HC,HMMPfam_MYT1,superfamily_CCHHC domain - no_errors KRTAP13-3 337960 genome.wustl.edu 36 21 30719843 30719843 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 21 30719843 30719843 T G SNP KRTAP13-3 NM_181622 human genbank 54_36p -1 provisional missense c.259 p.M87L NULL - - no_errors ATP5O 539 genome.wustl.edu 36 21 34206471 34206471 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 21 34206471 34206471 T C SNP ATP5O NM_001697 human genbank 54_36p -1 reviewed missense c.190 p.R64G 0.46 HMMPfam_OSCP HMMPfam_OSCP;superfamily_N-terminal domain of the delta subunit of the F1F0-ATP synthase - no_errors ERG 2078 genome.wustl.edu 36 21 38677670 38677670 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 21 38677670 38677670 G A SNP ERG NM_182918 human genbank 54_36p -1 validated missense c.965 p.S322L 1 HMMPfam_Ets Ets;HMMPfam_Ets;SAM_PNT;HMMPfam_SAM_PNT - no_errors PAK2 5062 genome.wustl.edu 36 3 197993936 197993936 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 3 197993936 197993936 G A SNP PAK2 NM_002577 human genbank 54_36p 1 reviewed missense c.22 p.E8K 1 NULL HMMPfam_PBD;HMMPfam_Pkinase;superfamily_Protein kinase-like (PK-like);superfamily_Wiscott-Aldrich syndrome protein WASP C-terminal domain - no_errors PXK 54899 genome.wustl.edu 36 3 58343280 58343280 + Splice_Site SNP G G T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 3 58343280 58343280 G T SNP PXK NM_017771 human genbank 54_36p 1 provisional splice_site c.202-1 e4-1 1 - - - no_errors ALPK1 80216 genome.wustl.edu 36 4 113571611 113571611 + Missense_Mutation SNP G A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 4 113571611 113571611 G A SNP ALPK1 NM_001102406 human genbank 54_36p 1 validated missense c.1459 p.G487R 0.94 NULL - - no_errors MTNR1A 4543 genome.wustl.edu 36 4 187692302 187692302 + Missense_Mutation SNP G T T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 4 187692302 187692302 G T SNP MTNR1A NM_005958 human genbank 54_36p -1 reviewed missense c.588 p.F196L 0.96 NULL - - no_errors C4orf35 85438 genome.wustl.edu 36 4 71236407 71236407 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 4 71236407 71236407 G C SNP C4orf35 NM_033122 human genbank 54_36p 1 validated missense c.1062 p.K354N NULL - - no_errors SHROOM3 57619 genome.wustl.edu 36 4 77880205 77880214 + Frame_Shift_Del DEL TCTTCCAGGC TCTTCCAGGC - Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 TCTTCCAGGC TCTTCCAGGC TCTTCCAGGC - TCTTCCAGGC TCTTCCAGGC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 4 77880205 77880214 TCTTCCAGGC - DEL SHROOM3 NM_020859 human genbank 54_36p 1 validated frame_shift_del c.1852_1861 p.S619fs 0.000:0.002:0.010:0.013:0.000:0.000:0.000:0.003:0.024:0.021 NULL HMMPfam_PDZ,superfamily_PDZ domain-like,HMMPfam_ASD2,HMMPfam_ASD1 (deletion:cds_exon[77878938,77882103]) no_errors HERC5 51191 genome.wustl.edu 36 4 89626399 89626399 + Silent SNP T C C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 4 89626399 89626399 T C SNP HERC5 NM_016323 human genbank 54_36p 1 reviewed silent c.1848 p.T616 NULL - - no_errors PCDHB9 56127 genome.wustl.edu 36 5 140547554 140547554 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 5 140547554 140547554 C A SNP PCDHB9 NM_019119 human genbank 54_36p 1 reviewed missense c.478 p.P160T 0.25 NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATP10B 23120 genome.wustl.edu 36 5 159980215 159980215 + Silent SNP G A A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 5 159980215 159980215 G A SNP ATP10B NM_025153 human genbank 54_36p -1 validated silent c.2133 p.A711 NULL - - no_errors LOC728707 728707 genome.wustl.edu 36 5 37542684 37542684 + RNA SNP G G A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 5 37542684 37542684 G A SNP LOC728707 XR_015588 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene HIST1H3B 8358 genome.wustl.edu 36 6 26140117 26140117 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 6 26140117 26140117 C G SNP HIST1H3B NM_003537 human genbank 54_36p -1 reviewed missense c.151 p.E51Q 1 NULL - - no_errors SYNGAP1 8831 genome.wustl.edu 36 6 33518684 33518684 + Nonsense_Mutation SNP A A T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 6 33518684 33518684 A T SNP SYNGAP1 NM_006772 human genbank 54_36p 1 validated nonsense c.2332 p.K778* 0.96 NULL HMMPfam_C2;HMMPfam_PH;HMMPfam_RasGAP;superfamily_GTPase activation domain GAP;superfamily_C2 domain (Calcium/lipid-binding domain CaLB);superfamily_PH domain-like - no_errors C6orf106 64771 genome.wustl.edu 36 6 34682583 34682583 + Silent SNP C C A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 6 34682583 34682583 C A SNP C6orf106 NM_024294 human genbank 54_36p -1 validated silent c.588 p.T196 1 NULL - - no_errors UHRF1BP1 54887 genome.wustl.edu 36 6 34934072 34934072 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 6 34934072 34934072 T A SNP UHRF1BP1 NM_017754 human genbank 54_36p 1 validated missense c.1961 p.V654D 0.43 NULL - - no_errors C6orf142 90523 genome.wustl.edu 36 6 54203568 54203568 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 6 54203568 54203568 C T SNP C6orf142 NM_138569 human genbank 54_36p 1 validated missense c.1211 p.S404L 0.01 NULL - - no_errors LAMB1 3912 genome.wustl.edu 36 7 107379875 107379875 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 7 107379875 107379875 G T SNP LAMB1 NM_002291 human genbank 54_36p -1 reviewed missense c.3109 p.Q1037K 0.27 HMMPfam_Laminin_EGF superfamily_EGF/Laminin;HMMPfam_Laminin_EGF;HMMPfam_Laminin_N;superfamily_Galactose-binding domain-like;superfamily_Prefoldin - no_errors DENND2A 27147 genome.wustl.edu 36 7 139890930 139890930 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 7 139890930 139890930 G T SNP DENND2A NM_015689 human genbank 54_36p -1 validated missense c.2284 p.L762M 1 HMMPfam_DENN HMMPfam_DENN;HMMPfam_dDENN;HMMPfam_uDENN - no_errors ELN 2006 genome.wustl.edu 36 7 73112446 73112446 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 7 73112446 73112446 G A SNP ELN ENST00000380562 human ensembl 54_36p 1 known missense c.1540 p.A514T 0.34 NULL - - no_stop_codon MAGI2 9863 genome.wustl.edu 36 7 77723362 77723362 + Silent SNP C C G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 7 77723362 77723362 C G SNP MAGI2 NM_012301 human genbank 54_36p -1 reviewed silent c.1881 p.R627 1 NULL HMMPfam_WW;superfamily_WW domain;HMMPfam_PDZ;superfamily_PDZ domain-like;HMMPfam_Guanylate_kin;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors DPYS 1807 genome.wustl.edu 36 8 105528874 105528874 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 8 105528874 105528874 T C SNP DPYS NM_001385 human genbank 54_36p -1 reviewed missense c.457 p.K153E 0.99 HMMPfam_Amidohydro_1 HMMPfam_Amidohydro_1;superfamily_Composite domain of metallo-dependent hydrolases;superfamily_Metallo-dependent hydrolases - no_errors OC90 729330 genome.wustl.edu 36 8 133114486 133114486 + Nonsense_Mutation SNP C C A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 8 133114486 133114486 C A SNP OC90 NM_001080399 human genbank 54_36p -1 validated nonsense c.841 p.E281* NULL - - no_errors KIFC2 90990 genome.wustl.edu 36 8 145663461 145663461 + Missense_Mutation SNP G G A Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 8 145663461 145663461 G A SNP KIFC2 NM_145754 human genbank 54_36p 1 provisional missense c.398 p.S133N 0.082 NULL HMMPfam_Kinesin,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors CSMD1 64478 genome.wustl.edu 36 8 2863527 2863531 + Frame_Shift_Del DEL CGTTC CGTTC - Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 CGTTC CGTTC CGTTC - CGTTC CGTTC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 8 2863527 2863531 CGTTC - DEL CSMD1 NM_033225 human genbank 54_36p -1 validated frame_shift_del c.7912_7908 p.W2636fs 0.105:0.991:0.991:0.855:1.000 NULL - (deletion:cds_exon[2863406,2863579]) pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZFHX4 79776 genome.wustl.edu 36 8 77926296 77926296 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 8 77926296 77926296 T A SNP ZFHX4 NM_024721 human genbank 54_36p 1 validated missense c.4449 p.N1483K 1 NULL - - no_errors PSKH2 85481 genome.wustl.edu 36 8 87145407 87145407 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 8 87145407 87145407 G T SNP PSKH2 NM_033126 human genbank 54_36p -1 provisional missense c.755 p.T252K 0.99 HMMPfam_Pkinase HMMPfam_Pkinase;superfamily_Protein kinase-like (PK-like) - no_errors CDH17 1015 genome.wustl.edu 36 8 95241470 95241470 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 8 95241470 95241470 T C SNP CDH17 NM_004063 human genbank 54_36p -1 reviewed missense c.1456 p.K486E 1 HMMPfam_Cadherin HMMPfam_Cadherin;superfamily_Cadherin-like - no_errors ENSG00000204562 0 genome.wustl.edu 36 9 83722276 83722276 + Missense_Mutation SNP T G G novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 T T G G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 9 83722276 83722276 T G SNP ENSG00000204562 ENST00000376459 human ensembl 54_36p 1 known missense c.149 p.L50R NULL - - no_errors ADAMTSL1 92949 genome.wustl.edu 36 9 18612344 18612344 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb 9 18612344 18612344 A C SNP ADAMTSL1 NM_001040272 human genbank 54_36p 1 validated missense c.578 p.K193T 1 NULL - - no_errors GPR112 139378 genome.wustl.edu 36 X 135255177 135255177 + Missense_Mutation SNP C T T novel Unknown TCGA-04-1336-01A-01W-0488-09 TCGA-04-1336-11A-01W-0489-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 586101df-93c9-4d0b-ba0e-58df7a2f9598 0d429d7f-2655-4757-b6f1-42d3daa55bbb X 135255177 135255177 C T SNP GPR112 NM_153834 human genbank 54_36p 1 validated missense c.1646 p.S549L NULL HMMPfam_GPS;HMMPfam_7tm_2;superfamily_Concanavalin A-like lectins/glucanases;superfamily_Family A G protein-coupled receptor-like - no_errors