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 COSMIC_Codon COSMIC_Gene Transcript_Id Exon ChromChange AAChange Genome_Plus_Minus_10_Bp Drug_Target TTotCov TVarCov NTotCov NVarCov dbSNPPopFreq Trna_tot Trna_ref Trna_var Trna_alt1 Trna_alt2 PRAMEF4 400735 broad.mit.edu;bcgsc.ca 37 1 12939507 12939507 + Missense_Mutation SNP C C G rs140792942 TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . PRAMEF4-45 NM_001009611 exon4 c.G1295C p.R432T GCAAATCTGCTCC . 217 55 244 2 C|1.000;G|0.000 0 0 0 0 0 PRAMEF10 343071 ucsc.edu 37 1 12952796 12952796 + Missense_Mutation SNP T T G rs2637919 bycluster;byfrequency TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 T T - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . PRAMEF10-90 NM_001039361 exon4 c.A1376C p.N459T CCACAGTTAGGGC . 41 17 170 12 T|0.667;G|0.333 0 0 0 0 0 TMEM50A 23585 bcgsc.ca 37 1 25678142 25678142 + Missense_Mutation SNP G G T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G - - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . TMEM50A-90 NM_014313 exon4 c.G232T p.V78F GGACAAGTCCGAG . 54 4 80 0 . 58 58 0 0 0 CSMD2 114784 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org 37 1 34276428 34276428 + Silent SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . CSMD2-103 NM_052896 exon10 c.C1242T p.G414G GATGATGCCCGAG . 16 6 46 0 . 0 0 0 0 0 DNAJC6 9829 bcgsc.ca 37 1 65858145 65858145 + Silent SNP G G A rs4325172 byfrequency TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G - - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . DNAJC6-272 NM_001256864 exon12 c.G1500A p.E500E TGAGGAGGACCAC . 77 5 226 1 G|0.576;A|0.424 2 2 0 0 0 SV2A 9900 bcgsc.ca 37 1 149876665 149876665 + Silent SNP G G A rs13067 bycluster;byfrequency;by1000genomes TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G - - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . SV2A-97 NM_014849 exon13 c.C2130T p.I710I CTTGGTGATTCCC . 480 40 352 1 G|0.984;A|0.016 2 2 0 0 0 SPTA1 6708 broad.mit.edu 37 1 158641186 158641186 + Nonsense_Mutation SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . SPTA1-142 NM_003126 exon12 c.C1546T p.Q516X GCTTCTGAAGAAG . 161 6 70 0 . 0 0 0 0 0 SPTA1 6708 broad.mit.edu;bcgsc.ca 37 1 158644356 158644356 + Silent SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . SPTA1-142 NM_003126 exon9 c.C1222T p.L408L CCAGCAGAACTTC . 183 12 96 1 . 0 0 0 0 0 OR10J1 26476 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org 37 1 159410014 159410014 + Missense_Mutation SNP G G T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . OR10J1-69 NM_012351 exon1 c.G466T p.V156F CAACTTGTCCTGG . 800 83 239 0 . 0 0 0 0 0 OLFML2B 25903 bcgsc.ca 37 1 161967692 161967692 + Missense_Mutation SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G - - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . OLFML2B-69 NM_015441 exon6 c.C1397T p.A466V GCAGGAGCATCTT . 280 8 96 0 . 10 10 0 0 0 FMO1 2326 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca 37 1 171254505 171254505 + Missense_Mutation SNP G G A rs28360433 byfrequency TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . FMO1-515 NM_002021 exon9 c.G1421A p.R474H AGTTCCGCTTGAC . 99 14 109 0 G|0.994;A|0.006 0 0 0 0 0 HMCN1 83872 broad.mit.edu 37 1 185956605 185956605 + Missense_Mutation SNP A A G novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . HMCN1-113 NM_031935 exon20 c.A2977G p.I993V AGTACAATTGAAG . 63 3 88 0 . 0 0 0 0 0 PM20D1 148811 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca 37 1 205797785 205797785 + Missense_Mutation SNP G G C novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . PM20D1-69 NM_152491 exon13 c.C1472G p.T491R TGGTCTGTGTCAG . 54 9 67 0 . 0 0 0 0 0 NLRP3 114548 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org 37 1 247587746 247587746 + Missense_Mutation SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . NLRP3-674 NM_183395 exon3 c.G1001A p.S334N TGAGCAGCCTCAT . 84 28 110 0 . 0 0 0 0 0 ECHDC3 79746 hgsc.bcm.edu;bcgsc.ca 37 10 11805375 11805375 + Silent SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . ECHDC3-90 NM_024693 exon5 c.G744A p.V248V GGTGGTGTCCCTG . 41 7 33 0 . 3 3 0 0 0 ENTPD1-AS1 0 bcgsc.ca;mdanderson.org 37 10 97698599 97698599 + RNA SNP A A G novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 A - - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . . . . . . TTACCTACACCTA . 171 37 202 0 . 1 1 0 0 0 SLIT1 6585 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org 37 10 98799839 98799839 + Missense_Mutation SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . SLIT1-94 NM_003061 exon21 c.C2203T p.P735S CCTGTGGGCACTG . 203 39 222 0 . 1 1 0 0 0 PTPMT1 114971 broad.mit.edu 37 11 47587390 47587390 + Silent SNP C C T rs193125282 by1000genomes TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . PTPMT1-23 NM_001143984 exon1 c.C216T p.R72R TCCCCGCCGCTCC . 45 8 34 1 C|0.998;T|0.002 6 5 1 0 0 PC 5091 hgsc.bcm.edu;broad.mit.edu;bcgsc.ca 37 11 66636324 66636324 + Missense_Mutation SNP T T C novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 T T - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . PC-228 NM_000920 exon9 c.A1015G p.I339V CGGTGATCTCCTC . 79 7 100 0 . 0 0 0 0 0 MRPS35 60488 bcgsc.ca 37 12 27867727 27867727 + Missense_Mutation SNP G G A rs1127787 byfrequency TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G - - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . MRPS35-90 NM_001190864 exon2 c.G127A p.G43R ACACCCGGAAATG . 97 6 103 1 G|0.873;A|0.127 0 0 0 0 0 KRT1 3848 hgsc.bcm.edu 37 12 53069243 53069243 + Missense_Mutation SNP T T C rs77846840 TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 T T - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . KRT1-92 NM_006121 exon9 c.A1669G p.S557G AGCTGCTACCTCC . 17 4 19 0 T|0.500;C|0.500 0 0 0 0 0 DNAJC14 85406 hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org 37 12 56215846 56215846 + Missense_Mutation SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . DNAJC14-229 NM_032364 exon7 c.C2024T p.A675V GAGGCTGCAGCGG . 66 31 85 0 . 16 8 8 0 0 MMP19 4327 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org 37 12 56231788 56231788 + Missense_Mutation SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . MMP19-227 NM_002429 exon7 c.C899T p.P300L CCACGGGGCCCTG . 56 15 87 0 . 0 0 0 0 0 MBD6 114785 hgsc.bcm.edu;broad.mit.edu;bcgsc.ca 37 12 57922471 57922471 + Missense_Mutation SNP A A C novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 A A - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . MBD6-516 NM_052897 exon11 c.A2843C p.K948T TCAGAAAGTCTCG . 88 8 116 0 . 31 26 5 0 0 WIF1 11197 hgsc.bcm.edu;broad.mit.edu;bcgsc.ca 37 12 65448919 65448919 + Missense_Mutation SNP G G T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . WIF1-1110 NM_007191 exon9 c.C997A p.H333N TTCCATGCCAACC . 68 6 58 0 . 0 0 0 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . EP400-520 NM_015409 exon47 c.G8175A p.Q2725Q GCAGCAGCAACAA . 59 8 101 0 . 1 1 0 0 0 CCDC168 643677 bcgsc.ca 37 13 103398682 103398682 + Missense_Mutation SNP G G T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G - - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . . NM_001146197 exon4 c.C4365A p.D1455E CTCTCTGTCATGG . 52 4 70 0 . 0 0 0 0 0 ERCC5 2073 hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org 37 13 103498624 103498624 + Missense_Mutation SNP T T A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 T T - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . ERCC5-689 NM_000123 exon1 c.T8A p.V3D TGGGGGTCCAGGG . 22 14 32 0 . 8 3 5 0 0 LRP10 26020 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca 37 14 23345363 23345363 + Silent SNP C C T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . LRP10-90 NM_014045 exon5 c.C1206T p.G402G GCCTGGCAATTTC . 71 9 68 0 . 77 68 9 0 0 EXOC5 10640 bcgsc.ca 37 14 57714427 57714427 + Missense_Mutation SNP G G T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G - - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . EXOC5-137 NM_006544 exon2 c.C31A p.P11T CAAAAGGCTCCTA . 135 5 131 0 . 0 0 0 0 0 MTHFD1 4522 broad.mit.edu 37 14 64884686 64884686 + Missense_Mutation SNP T T G novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . MTHFD1-92 NM_005956 exon7 c.T559G p.W187G CTTCTGTGGAACA . 69 6 86 1 . 42 42 0 0 0 ADAM21 8747 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca 37 14 70926008 70926008 + Silent SNP A A C novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 A A - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . ADAM21-92 NM_003813 exon2 c.A1792C p.R598R CATTTAAGGATGA . 313 146 363 1 . 0 0 0 0 0 FAM161B 145483 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org 37 14 74411292 74411292 + Missense_Mutation SNP T T A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 T T - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . FAM161B-91 NM_152445 exon3 c.A860T p.H287L TAGACATGTGCAG . 65 27 79 0 . 3 1 2 0 0 CEP152 22995 hgsc.bcm.edu 37 15 49034286 49034286 + Missense_Mutation SNP G G T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . CEP152-70 NM_001194998 exon25 c.C3847A p.R1283S TATAACGAAGCAT . 75 4 66 0 . 0 0 0 0 0 PML 5371 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca 37 15 74335395 74335395 + Silent SNP C C T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . PML-1083 NM_002675 exon8 c.C1776T p.T592T CAGCACCCTCAGG . 75 9 94 0 . 1 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101528910 101528910 + Missense_Mutation SNP G G T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . LRRK1-602 NM_024652 exon5 c.G505T p.V169L GGGGTTGTGAAGC . 52 3 82 0 . 0 0 0 0 0 CCNF 899 broad.mit.edu;ucsc.edu;bcgsc.ca 37 16 2506732 2506732 + Missense_Mutation SNP G G A rs148419125 byfrequency TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . CCNF-658 NM_001761 exon17 c.G2072A p.R691Q CCAGCCGGGAGCC . 145 31 127 1 G|1.000;A|0.000 2 2 0 0 0 DNAH3 55567 broad.mit.edu 37 16 20966303 20966303 + Missense_Mutation SNP G G T rs148915896 alternate_allele TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . DNAH3-167 NM_017539 exon55 c.C10903A p.P3635T TGGGGGGCTCATT . 70 3 60 0 G|1.000;A|0.000 0 0 0 0 0 ZFPM1 161882 broad.mit.edu 37 16 88599696 88599697 + Frame_Shift_Del DEL GA GA - rs67549438 alternate_allele TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . ZFPM1-90 NM_153813 exon10 c.1330_1331del p.444_444del AGAGCGGAGCCTC . 15 9 5 0 . 0 0 0 0 0 NLRP1 22861 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org 37 17 5424256 5424256 + Missense_Mutation SNP C C T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . NLRP1-274 NM_001033053 exon14 c.G3872A p.G1291D CGACAGCCCATAT . 24 21 46 0 . 0 0 0 0 0 MFSD6L 162387 hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org 37 17 8702218 8702218 + Missense_Mutation SNP C C T rs111726322 byfrequency;alternate_allele TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . MFSD6L-90 NM_152599 exon1 c.G221A p.R74Q CTTTTCCGGTAGC . 67 20 83 0 C|0.986;A|0.014 0 0 0 0 0 MYH3 4621 ucsc.edu;bcgsc.ca 37 17 10551910 10551910 + Silent SNP G G A rs16943604 byfrequency TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . MYH3-95 NM_002470 exon8 c.C699T p.N233N CTTGGCGTTCCCA . 212 45 213 3 G|0.987;A|0.013 0 0 0 0 0 RAI1 10743 broad.mit.edu 37 17 17700826 17700826 + Missense_Mutation SNP G G T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . RAI1-91 NM_030665 exon3 c.G4564T p.A1522S ACAAGGGCACAGA . 99 3 132 0 . 16 16 0 0 0 KRTAP4-5 85289 ucsc.edu 37 17 39305785 39305785 + Missense_Mutation SNP A A T rs411367 TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 A A - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . KRTAP4-5-90 NM_033188 exon1 c.T235A p.C79S AGCAGCAGGGGCG . 54 16 44 2 A|0.354;T|0.646 0 0 0 0 0 CD300A 11314 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org 37 17 72470793 72470793 + Missense_Mutation SNP C C A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . CD300A-92 NM_007261 exon3 c.C502A p.Q168K AGCATCCAGGAGG . 135 25 170 0 . 0 0 0 0 0 LONP1 9361 broad.mit.edu;ucsc.edu;bcgsc.ca 37 19 5707755 5707755 + Missense_Mutation SNP T T G novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . LONP1-91 NM_004793 exon6 c.T1015C p.F339L CCCCGGTGAGCGC . 158 26 203 1 . 117 85 32 0 0 KANK3 256949 broad.mit.edu 37 19 8398950 8398961 + In_Frame_Del DEL TCGCTGTCGCCA TCGCTGTCGCCA - novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . KANK3-90 NM_198471 exon5 c.1467_1478del p.489_493del CCGTTCTCGCTGT . 15 5 10 0 . 0 0 0 0 0 QTRT1 81890 hgsc.bcm.edu;broad.mit.edu 37 19 10823651 10823651 + Missense_Mutation SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . QTRT1-91 NM_031209 exon9 c.G994A p.A332T CTGCACGCACTGC . 58 4 87 0 . 53 51 2 0 0 CCDC105 126402 hgsc.bcm.edu 37 19 15133926 15133926 + Missense_Mutation SNP C C A rs8112667 byfrequency TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . CCDC105-91 NM_173482 exon7 c.C1495A p.P499T GCGGACCCCTAGT . 10 5 1 0 C|0.671;A|0.329 0 0 0 0 0 UPF1 5976 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org 37 19 18966869 18966869 + Silent SNP C C G novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . UPF1-91 NM_002911 exon12 c.C1680G p.A560A TCTGGCCCTGCAC . 119 24 127 0 . 34 26 8 0 0 URI1 8725 broad.mit.edu 37 19 30500035 30500035 + Missense_Mutation SNP G G C novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . . NM_003796 exon8 c.G810C p.K270N TCATAAGGATGTT . 78 4 119 0 . 46 43 3 0 0 STRN 6801 ucsc.edu 37 2 37152329 37152329 + Missense_Mutation SNP C C T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . STRN-91 NM_003162 exon2 c.G257A p.G86E CTTTCTCCCTGCA . 101 18 115 2 . 2 2 0 0 0 DCTN1 1639 hgsc.bcm.edu;broad.mit.edu;bcgsc.ca 37 2 74588719 74588719 + Silent SNP C C T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . DCTN1-95 NM_004082 exon32 c.G3744A p.V1248V GAAGGTCACTTTG . 34 6 87 0 . 54 24 29 1 0 DNAH6 1768 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org 37 2 84924798 84924798 + Missense_Mutation SNP G G T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . DNAH6-69 NM_001370 exon47 c.G7624T p.A2542S TTAGCGGCCACCA . 388 44 96 0 . 1 1 0 0 0 EN1 2019 broad.mit.edu 37 2 119600586 119600586 + Silent SNP C C A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . EN1-154 NM_001426 exon2 c.G1107T p.A369A GTGCAGCGCCAGG . 69 7 91 5 . 0 0 0 0 0 ZRANB3 84083 broad.mit.edu;bcgsc.ca 37 2 135965341 135965341 + Missense_Mutation SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . ZRANB3-658 NM_032143 exon19 c.C2672T p.T891I TTCACAGTGAGAT . 66 28 69 2 . 1 1 0 0 0 SP5 389058 hgsc.bcm.edu 37 2 171573185 171573185 + Silent SNP G G T rs1134626 byfrequency TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . SP5-90 NM_001003845 exon2 c.G468T p.P156P GCTGCCGCCAGGC . 4 4 0 0 G|0.766;T|0.234 1 0 1 0 0 FAM171B 165215 ucsc.edu 37 2 187559050 187559050 + Silent SNP A A G rs75768569 TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 A A - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . FAM171B-141 NM_177454 exon1 c.A150G p.Q50Q GCAGCAACAACAA . 83 6 100 1 A|0.500;G|0.500 8 7 1 0 0 CLK1 1195 broad.mit.edu;ucsc.edu;bcgsc.ca 37 2 201719353 201719353 + Missense_Mutation SNP C C T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . CLK1-784 NM_001162407 exon11 c.G1332A p.M444I CTGTATCATATGT . 53 6 104 0 . 169 130 39 0 0 FAM124B 79843 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca 37 2 225266236 225266236 + Missense_Mutation SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . FAM124B-92 NM_024785 exon1 c.C250T p.R84C GGACGCGAAATAG . 93 19 110 0 . 0 0 0 0 0 KLHL30 377007 broad.mit.edu;ucsc.edu;bcgsc.ca 37 2 239059526 239059526 + Silent SNP C C T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . KLHL30-22 NM_198582 exon8 c.C1557T p.G519G GACGGGCGGCCGC . 155 21 236 1 . 0 0 0 0 0 BPIFB4 149954 hgsc.bcm.edu;broad.mit.edu;bcgsc.ca 37 20 31671359 31671359 + Missense_Mutation SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . . NM_182519 exon3 c.G356A p.R119Q ACCTCCGAAACAG . 125 8 138 0 . 0 0 0 0 0 TFAP2C 7022 broad.mit.edu 37 20 55206414 55206414 + Missense_Mutation SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . TFAP2C-514 NM_003222 exon2 c.G202A p.A68T CAGCTGGCCTACT . 75 4 73 0 . 1 1 0 0 0 CTCFL 140690 hgsc.bcm.edu;broad.mit.edu 37 20 56090847 56090847 + Missense_Mutation SNP C C T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . CTCFL-292 NM_001269044 exon5 c.G1103A p.R368H AAGGGGCGCTCCC . 44 5 39 0 . 0 0 0 0 0 CDH4 1002 broad.mit.edu 37 20 60348208 60348208 + Silent SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . CDH4-282 NM_001794 exon4 c.G546A p.S182S GAACTCGCGCGGG . 104 4 76 0 . 0 0 0 0 0 OLIG2 10215 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org 37 21 34399459 34399459 + Missense_Mutation SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . OLIG2-629 NM_005806 exon2 c.G289A p.D97N AAGAAGGACAAGA . 132 25 155 0 . 0 0 0 0 0 NEFH 4744 ucsc.edu 37 22 29885594 29885594 + Silent SNP A A T rs79235463 byfrequency TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 A A - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . NEFH-90 NM_021076 exon4 c.A1965T p.P655P GTCCCCAGAGAAG . 205 37 263 1 A|0.500;T|0.500 7 7 0 0 0 STAB1 23166 broad.mit.edu 37 3 52546974 52546974 + Missense_Mutation SNP G G T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . STAB1-139 NM_015136 exon29 c.G3158T p.R1053M TGGTCAGGTGGGG . 86 3 95 0 . 1 1 0 0 0 DZIP3 9666 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org 37 3 108407467 108407467 + Missense_Mutation SNP A A G novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 A A - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . DZIP3-91 NM_014648 exon30 c.A3298G p.N1100D AATGTTAATTGTG . 179 95 260 0 . 9 3 6 0 0 PODXL2 50512 broad.mit.edu;bcgsc.ca 37 3 127379708 127379708 + Silent SNP C C T rs114235935 byfrequency TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . PODXL2-91 NM_015720 exon3 c.C837T p.F279F AGAGTTCGAGGCT . 80 14 112 0 C|0.997;T|0.003 12 9 3 0 0 CP 1356 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca 37 3 148896230 148896230 + Missense_Mutation SNP C C G novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . CP-515 NM_000096 exon16 c.G2850C p.E950D GAATTCCTCATCA . 88 15 107 0 . 4 4 0 0 0 SLITRK3 22865 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org 37 3 164908554 164908554 + Missense_Mutation SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . SLITRK3-100 NM_014926 exon2 c.C65T p.T22I GCAATTGTGCTTA . 67 15 113 0 . 0 0 0 0 0 CHRNA9 55584 hgsc.bcm.edu;broad.mit.edu;bcgsc.ca 37 4 40337918 40337918 + Missense_Mutation SNP C C T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . CHRNA9-96 NM_017581 exon2 c.C139T p.R47C GCTCTTCGTCCAG . 144 8 133 0 . 0 0 0 0 0 FRAS1 80144 broad.mit.edu;ucsc.edu;bcgsc.ca 37 4 79328954 79328954 + Missense_Mutation SNP C C T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . FRAS1-68 NM_001166133 exon31 c.C4267T p.H1423Y TACAGGCACTCAG . 126 41 172 1 . 0 0 0 0 0 DSPP 1834 bcgsc.ca 37 4 88536999 88536999 + Missense_Mutation SNP A A G rs202222170 TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 A - - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . DSPP-90 NM_014208 exon5 c.A3185G p.D1062G GCAGTGACAGCAG . 356 17 452 0 . 0 0 0 0 0 DSPP 1834 bcgsc.ca 37 4 88537426 88537426 + Silent SNP T T C novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 T - - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . DSPP-90 NM_014208 exon5 c.T3612C p.S1204S CGATAGTAGTGAT . 451 45 516 28 . 0 0 0 0 0 FBXL7 23194 bcgsc.ca 37 5 15937010 15937010 + Silent SNP C C T rs61748187 byfrequency TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C - - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . FBXL7-228 NM_012304 exon4 c.C1191T p.L397L GTACCTCGCCAAG . 122 5 128 1 C|0.982;T|0.018 7 7 0 0 0 LOX 4015 hgsc.bcm.edu;broad.mit.edu;bcgsc.ca 37 5 121405754 121405754 + Missense_Mutation SNP A A C novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 A A - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . LOX-650 NM_002317 exon6 c.T1241G p.I414S GGTGAAATTGTGC . 247 16 117 0 . 0 0 0 0 0 PHAX 51808 hgsc.bcm.edu;broad.mit.edu;bcgsc.ca 37 5 125939673 125939673 + Missense_Mutation SNP G G C novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . PHAX-90 NM_032177 exon2 c.G508C p.D170H ACAAAAGATCTAG . 268 16 96 0 . 51 51 0 0 0 PHAX 51808 broad.mit.edu;bcgsc.ca 37 5 125939735 125939735 + Missense_Mutation SNP G G C novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . PHAX-90 NM_032177 exon2 c.G570C p.E190D GGAAGAGGAAAAT . 295 23 85 1 . 85 85 0 0 0 PHAX 51808 broad.mit.edu;bcgsc.ca 37 5 125939799 125939799 + Missense_Mutation SNP G G C novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . PHAX-90 NM_032177 exon2 c.G634C p.E212Q AGACCAGAAATGA . 324 18 107 1 . 79 79 0 0 0 PHAX 51808 broad.mit.edu;bcgsc.ca 37 5 125939825 125939825 + Silent SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . PHAX-90 NM_032177 exon2 c.G660A p.E220E ATACGAGATCACA . 318 22 125 1 . 116 116 0 0 0 CDKN2AIPNL 91368 hgsc.bcm.edu;broad.mit.edu;bcgsc.ca 37 5 133745680 133745680 + Missense_Mutation SNP G G C novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . CDKN2AIPNL-68 NM_080656 exon2 c.C253G p.L85V CTAAAAGGTCTTT . 103 11 65 0 . 23 23 0 0 0 KLHL3 26249 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca 37 5 137056267 137056267 + Silent SNP C C T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . KLHL3-90 NM_017415 exon2 c.G21A p.K7K GCTCAGCTTGACA . 90 13 97 0 . 0 0 0 0 0 PCDHGB1 56104 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca 37 5 140731780 140731780 + Silent SNP C C T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . PCDHGB1-33 NM_018922 exon1 c.C1953T p.S651S ACTCTCCGCCACC . 57 12 72 0 . 6 6 0 0 0 PCDHGB2 56103 broad.mit.edu;ucsc.edu;bcgsc.ca 37 5 140741378 140741378 + Missense_Mutation SNP C C T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . PCDHGB2-33 NM_018923 exon1 c.C1676T p.A559V ACAATGCGCCACG . 113 17 134 1 . 1 1 0 0 0 RASGEF1C 255426 bcgsc.ca 37 5 179563435 179563435 + Silent SNP T T C rs11546322 byfrequency TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 T - - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . RASGEF1C-228 NM_175062 exon4 c.A381G p.E127E CGACTCTTCCTGG . 314 11 280 1 T|0.588;C|0.412 0 0 0 0 0 E2F3 1871 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca 37 6 20488470 20488470 + Missense_Mutation SNP G G A rs147333935 byfrequency TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . E2F3-414 NM_001949 exon6 c.G1126A p.A376T AAACCCGCTTCCA . 78 14 86 0 G|0.999;A|0.001 0 0 0 0 0 OR2B6 26212 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org 37 6 27925596 27925596 + Missense_Mutation SNP C C T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . OR2B6-69 NM_012367 exon1 c.C578T p.T193I AGACAACAGCAAA . 129 54 177 0 . 0 0 0 0 0 GRIK2 2898 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org 37 6 102511871 102511871 + Missense_Mutation SNP C C A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . GRIK2-157 NM_175768 exon16 c.C2597A p.P866Q ACCATCCAGACAC . 171 42 212 0 . 0 0 0 0 0 ESR1 2099 broad.mit.edu 37 6 152129382 152129382 + Missense_Mutation SNP A A C novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . ESR1-1042 NM_000125 exon1 c.A335C p.H112P TACTGCACCCGCC . 67 14 58 7 . 0 0 0 0 0 STK31 56164 bcgsc.ca 37 7 23811800 23811800 + Missense_Mutation SNP G G T rs10247878 byfrequency TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G - - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . STK31-338 NM_031414 exon15 c.G1868T p.S623I ATAAGAGTCCCAG . 93 5 99 0 G|0.876;T|0.124 0 0 0 0 0 WNT2 7472 broad.mit.edu;bcgsc.ca 37 7 116937913 116937913 + Frame_Shift_Del DEL C C - novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . WNT2-1011 NM_003391 exon4 c.606delG p.L202fs TTGTTTCAAGAAC . 28 8 33 0 . 0 0 0 0 0 WNT2 7472 broad.mit.edu;bcgsc.ca 37 7 116937915 116937916 + Frame_Shift_Del DEL AG AG - novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . WNT2-1011 NM_003391 exon4 c.603_604del p.201_202del GTTTCAAGAACCG . 27 8 32 0 . 0 0 0 0 0 CLDN23 137075 hgsc.bcm.edu 37 8 8560536 8560536 + Missense_Mutation SNP G G A rs12548737 byfrequency TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . . NM_194284 exon1 c.G628A p.V210M ATCCAAGTGGAGT . 6 6 2 0 G|0.907;A|0.093 2 0 2 0 0 DOCK5 80005 bcgsc.ca 37 8 25203011 25203013 + In_Frame_Del DEL CCA CCA - novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 CCA - - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . DOCK5-71 NM_024940 exon26 c.2638_2640del p.880_880del CTGCTGCCACTGC . 23 4 63 0 . 0 0 0 0 0 ARMC1 55156 bcgsc.ca 37 8 66525548 66525548 + Silent SNP T T C rs11559265 byfrequency TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 T - - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . ARMC1-91 NM_018120 exon4 c.A396G p.Q132Q AAAAAATTGAGCT . 79 4 106 1 T|0.731;C|0.269 23 23 0 0 0 RGS22 26166 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org 37 8 101016248 101016248 + Missense_Mutation SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . RGS22-140 NM_015668 exon17 c.C2533T p.P845S CTGCAGGAACATT . 92 17 117 0 . 0 0 0 0 0 COL14A1 7373 broad.mit.edu 37 8 121344902 121344902 + Splice_Site SNP G G T novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . COL14A1-543 NM_021110 exon42 c.4714-1G>T . CTTCTAGGGCATT . 62 3 84 0 . 0 0 0 0 0 HHLA1 10086 hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org 37 8 133090151 133090151 + Silent SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . . NM_001145095 exon11 c.C993T p.S331S GGGCACGGACGAT . 99 45 115 0 . 0 0 0 0 0 KIAA1432 57589 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca 37 9 5754924 5754924 + Silent SNP A A G novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 A A - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . KIAA1432-90 NM_001135920 exon15 c.A1686G p.Q562Q CCGTCAAGAAGAG . 26 6 17 0 . 0 0 0 0 0 FRMPD1 22844 bcgsc.ca 37 9 37731007 37731007 + Silent SNP C C T rs2274324 byfrequency TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C - - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . FRMPD1-159 NM_014907 exon9 c.C765T p.D255D ACATGACTACCGC . 52 4 59 0 C|0.942;T|0.058 0 0 0 0 0 PSAT1 29968 broad.mit.edu 37 9 80919786 80919786 + Silent SNP T T G novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . PSAT1-91 NM_021154 exon4 c.T327G p.A109A GTCAGCTAAGGCC . 84 8 121 1 . 84 83 1 0 0 COL5A1 1289 hgsc.bcm.edu;broad.mit.edu;bcgsc.ca 37 9 137710730 137710730 + Missense_Mutation SNP G G A rs183114696 TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . COL5A1-524 NM_000093 exon56 c.G4375A p.G1459S CCGGACGGTCCCC . 70 8 56 0 G|0.999;A|0.000 2 1 1 0 0 AKAP4 8852 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca 37 X 49957052 49957052 + Missense_Mutation SNP T T C rs61751432 alternate_allele TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 T T - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . AKAP4-540 NM_003886 exon5 c.A2312G p.Q771R TGCTTCTGCAAGC . 102 14 100 0 . 0 0 0 0 0 SHROOM4 57477 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca 37 X 50377344 50377344 + Missense_Mutation SNP G G A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 G G - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . SHROOM4-131 NM_020717 exon4 c.C1729T p.R577C TCGAGCGGCCCCG . 46 10 43 0 . 0 0 0 0 0 ITM2A 9452 ucsc.edu;bcgsc.ca 37 X 78616969 78616969 + Missense_Mutation SNP C C A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . ITM2A-131 NM_004867 exon5 c.G560T p.R187I AGATATCTGCCAC . 317 59 285 4 . 0 0 0 0 0 COL4A6 1288 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org 37 X 107457358 107457358 + Missense_Mutation SNP C C A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . COL4A6-199 NM_001847 exon6 c.G428T p.G143V AGAAGCCCAGGAT . 64 24 68 0 . 0 0 0 0 0 GPR50 9248 hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca 37 X 150349287 150349287 + Missense_Mutation SNP C C G novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 C C - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . GPR50-176 NM_004224 exon2 c.C1232G p.S411C GCCACTCCAAGGC . 92 16 92 0 . 0 0 0 0 0 SRPK3 26576 broad.mit.edu 37 X 153047594 153047594 + Missense_Mutation SNP A A C novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . SRPK3-540 NM_014370 exon5 c.A406C p.S136R GACCCCAGTGACC . 179 5 220 1 . 7 7 0 0 0 RABL2B 11158 hgsc.bcm.edu;bcgsc.ca 37 22 51208398 51208399 + Frame_Shift_Ins INS - - A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . RABL2B-131 NM_001130920 exon7 c.344_345insT p.W115fs GTATACCAGGTGC . 116 30 185 0 . 0 0 0 0 0 RFC1 5981 broad.mit.edu;bcgsc.ca 37 4 39310527 39310528 + Frame_Shift_Ins INS - - A novel TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 - - - - Unknown Untested Somatic Phase_I WXS none . . Illumina GAIIx 9bfd4b2e-0577-4c94-8d6c-dafa9104b502 2d4f1606-9261-4ba8-96a9-ee307989af11 . RFC1-230 NM_002913 exon13 c.1614_1615insT p.L538fs CTTTGCCAAACTG . 78 9 76 0 . 0 0 0 0 0