#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AGGF1	55109	genome.wustl.edu	37	5	76348570	76348570	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr5:76348570T>A	ENST00000312916.7	+	9	1787	c.1405T>A	c.(1405-1407)Tat>Aat	p.Y469N		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	469	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		CTTACAAAGTTATGTCCTTGT	0.303																																						dbGAP											0													92.0	89.0	90.0					5																	76348570		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.1405T>A	5.37:g.76348570T>A	ENSP00000316109:p.Tyr469Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom	p.Y469N	ENST00000312916.7	37	c.1405	CCDS4035.1	5	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613842	0.87359	.	.	ENSG00000164252	ENST00000312916	D	0.87729	-2.29	5.73	5.73	0.89815	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.94460	0.8217	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95353	0.8448	10	0.87932	D	0	-7.2491	16.0152	0.80434	0.0:0.0:0.0:1.0	.	469	Q8N302	AGGF1_HUMAN	N	469	ENSP00000316109:Y469N	ENSP00000316109:Y469N	Y	+	1	0	AGGF1	76384326	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.574000	0.82434	2.180000	0.69256	0.533000	0.62120	TAT	AGGF1	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	ENSG00000164252		0.303	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGGF1	HGNC	protein_coding	OTTHUMT00000219971.2	35	0.00	0	T	NM_018046		76348570	76348570	+1	no_errors	ENST00000312916	ensembl	human	known	69_37n	missense	40	39.71	27	SNP	1.000	A
ANKRD28	23243	genome.wustl.edu	37	3	15753674	15753674	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr3:15753674C>T	ENST00000399451.2	-	11	1523	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.D419N	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	386						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CTGCAGCAATCTGAAAAGCCG	0.413																																						dbGAP											0													45.0	45.0	45.0					3																	15753674		1824	4072	5896	-	-	-	SO:0001583	missense	0			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1156G>A	3.37:g.15753674C>T	ENSP00000382379:p.Asp386Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D419N	ENST00000399451.2	37	c.1255	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.194140	0.94960	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.56275	2.22;0.47;2.22	5.56	4.68	0.58851	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.41124	1.26	0.80722	D	1	P;P;P	0.48764	0.915;0.528;0.83	P;B;P	0.53224	0.721;0.236;0.6	T	0.57124	-0.7865	10	0.41790	T	0.15	.	15.8583	0.79000	0.1368:0.8632:0.0:0.0	.	419;416;386	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	N	386;419;386	ENSP00000382379:D386N;ENSP00000373287:D419N;ENSP00000397341:D386N	ENSP00000373287:D419N	D	-	1	0	ANKRD28	15728678	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.750000	0.85110	1.469000	0.48083	0.563000	0.77884	GAT	ANKRD28	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000206560		0.413	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	23	0.00	0	C	NM_015199		15753674	15753674	-1	no_errors	ENST00000383777	ensembl	human	known	69_37n	missense	16	48.39	15	SNP	1.000	T
ANO5	203859	genome.wustl.edu	37	11	22215054	22215054	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr11:22215054C>T	ENST00000324559.8	+	1	333	c.16C>T	c.(16-18)Ctc>Ttc	p.L6F		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	6					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGACCCGGATCTCCTGGAAGT	0.662																																						dbGAP											0													56.0	47.0	50.0					11																	22215054		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.16C>T	11.37:g.22215054C>T	ENSP00000315371:p.Leu6Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Anoctamin	p.L6F	ENST00000324559.8	37	c.16	CCDS31444.1	11	.	.	.	.	.	.	.	.	.	.	C	9.899	1.206362	0.22205	.	.	ENSG00000171714	ENST00000324559	T	0.72725	-0.68	3.79	1.92	0.25849	.	0.630269	0.12233	N	0.487222	T	0.42877	0.1222	N	0.08118	0	0.18873	N	0.999985	B	0.34015	0.435	B	0.29524	0.103	T	0.21449	-1.0245	10	0.25106	T	0.35	.	5.0451	0.14479	0.1677:0.4478:0.3845:0.0	.	6	Q75V66	ANO5_HUMAN	F	6	ENSP00000315371:L6F	ENSP00000315371:L6F	L	+	1	0	ANO5	22171630	0.409000	0.25368	0.344000	0.25628	0.509000	0.34042	0.399000	0.20916	0.577000	0.29470	0.650000	0.86243	CTC	ANO5	-	NULL	ENSG00000171714		0.662	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	16	0.00	0	C	NM_213599		22215054	22215054	+1	no_errors	ENST00000324559	ensembl	human	known	69_37n	missense	8	42.86	6	SNP	0.439	T
AP1S1	1174	genome.wustl.edu	37	7	100799964	100799965	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr7:100799964_100799965insCA	ENST00000337619.5	+	2	211_212	c.93_94insCA	c.(94-96)gtgfs	p.V32fs	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	32					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GGAAGAAGATGGTGCGCGAGCT	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	Exception_encountered	7.37:g.100799964_100799965insCA	ENSP00000336666:p.Val32fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Frame_Shift_Ins	INS	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.V31fs	ENST00000337619.5	37	c.93_94	CCDS47669.1	7																																																																																			AP1S1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	ENSG00000106367		0.545	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1S1	HGNC	protein_coding	OTTHUMT00000347439.1	38	0.00	0	-	NM_001283		100799964	100799965	+1	no_errors	ENST00000337619	ensembl	human	known	69_37n	frame_shift_ins	34	32.00	16	INS	1.000:1.000	CA
BEND6	221336	genome.wustl.edu	37	6	56879947	56879947	+	Silent	SNP	C	C	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr6:56879947C>T	ENST00000370746.3	+	4	584	c.315C>T	c.(313-315)gtC>gtT	p.V105V	BEND6_ENST00000545789.1_Silent_p.V7V|BEND6_ENST00000370745.1_Missense_Mutation_p.H127Y|BEND6_ENST00000370750.2_Missense_Mutation_p.H127Y|BEND6_ENST00000484701.1_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	105					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CACAAGCAGTCACCCAGTTTG	0.418																																						dbGAP											0													105.0	100.0	102.0					6																	56879947		1940	4134	6074	-	-	-	SO:0001819	synonymous_variant	0			AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.315C>T	6.37:g.56879947C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	NULL	p.H127Y	ENST00000370746.3	37	c.379	CCDS43476.1	6	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042110	0.35989	.	.	ENSG00000151917	ENST00000370750;ENST00000370745	.	.	.	4.92	-0.293	0.12835	.	.	.	.	.	T	0.49201	0.1543	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54840	-0.8233	5	0.62326	D	0.03	-8.6573	8.9045	0.35515	0.0:0.5429:0.0:0.4571	.	.	.	.	Y	127	.	ENSP00000359781:H127Y	H	+	1	0	BEND6	56987906	1.000000	0.71417	0.792000	0.32020	0.952000	0.60782	0.442000	0.21628	0.001000	0.14605	0.467000	0.42956	CAC	BEND6	-	NULL	ENSG00000151917		0.418	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND6	HGNC	protein_coding	OTTHUMT00000041032.4	138	0.00	0	C	NM_152731		56879947	56879947	+1	no_errors	ENST00000370745	ensembl	human	known	69_37n	missense	82	19.61	20	SNP	0.964	T
BFSP1	631	genome.wustl.edu	37	20	17475142	17475142	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr20:17475142C>A	ENST00000377873.3	-	8	1614	c.1575G>T	c.(1573-1575)caG>caT	p.Q525H	BFSP1_ENST00000377868.2_Missense_Mutation_p.Q400H|BFSP1_ENST00000536626.1_Missense_Mutation_p.Q386H|BFSP1_ENST00000544874.1_Missense_Mutation_p.Q386H	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	525	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.Q525H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GCAGACCCACCTGCCCATTCT	0.547																																						dbGAP											1	Substitution - Missense(1)	lung(1)											59.0	52.0	55.0					20																	17475142		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1575G>T	20.37:g.17475142C>A	ENSP00000367104:p.Gln525His	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin	p.Q525H	ENST00000377873.3	37	c.1575	CCDS13126.1	20	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001880	0.54254	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.21	-1.32	0.09201	.	0.556662	0.19787	N	0.106073	T	0.44787	0.1310	L	0.52573	1.65	0.09310	N	1	P;D	0.63880	0.911;0.993	P;P	0.56751	0.562;0.805	T	0.35773	-0.9775	10	0.66056	D	0.02	-3.1065	0.175	0.00117	0.2959:0.2263:0.146:0.3318	.	400;525	Q12934-2;Q12934	.;BFSP1_HUMAN	H	525;400;386;386	ENSP00000367104:Q525H;ENSP00000367099:Q400H;ENSP00000442522:Q386H;ENSP00000439870:Q386H	ENSP00000367099:Q400H	Q	-	3	2	BFSP1	17423142	0.218000	0.23608	0.031000	0.17742	0.057000	0.15508	0.318000	0.19504	0.175000	0.19841	0.655000	0.94253	CAG	BFSP1	-	NULL	ENSG00000125864		0.547	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFSP1	HGNC	protein_coding	OTTHUMT00000078119.6	76	0.00	0	C	NM_001195		17475142	17475142	-1	no_errors	ENST00000377873	ensembl	human	known	69_37n	missense	66	20.48	17	SNP	0.002	A
C14orf39	317761	genome.wustl.edu	37	14	60938269	60938269	+	Splice_Site	SNP	C	C	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr14:60938269C>T	ENST00000321731.3	-	6	671		c.e6+1			NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39						multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AATATTAATACCTCGAAATTT	0.259																																						dbGAP											0													34.0	35.0	35.0					14																	60938269		2199	4274	6473	-	-	-	SO:0001630	splice_region_variant	0			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.511+1G>A	14.37:g.60938269C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AQ4	Splice_Site	SNP	-	e5+1	ENST00000321731.3	37	c.511+1	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094493	0.56075	.	.	ENSG00000179008	ENST00000321731	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6059	0.84828	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C14orf39	60008022	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	4.812000	0.62613	2.524000	0.85096	0.655000	0.94253	.	C14orf39	-	-	ENSG00000179008		0.259	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	HGNC	protein_coding	OTTHUMT00000276948.1	134	0.00	0	C	NM_174978	Intron	60938269	60938269	-1	no_errors	ENST00000321731	ensembl	human	known	69_37n	splice_site	242	20.07	61	SNP	1.000	T
CACNA1A	773	genome.wustl.edu	37	19	13397337	13397338	+	Frame_Shift_Ins	INS	-	-	G	rs556266465		TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr19:13397337_13397338insG	ENST00000360228.5	-	20	3531_3532	c.3532_3533insC	c.(3532-3534)ctcfs	p.L1178fs	CACNA1A_ENST00000573710.2_Frame_Shift_Ins_p.L1179fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1179					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGTGTGGTTGAGGGGGGGTGGG	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3533dupC	19.37:g.13397344_13397344dupG	ENSP00000353362:p.Leu1178fs	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Frame_Shift_Ins	INS	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.L1178fs	ENST00000360228.5	37	c.3533_3532	CCDS45998.1	19																																																																																			CACNA1A	-	NULL	ENSG00000141837		0.629	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	10	0.00	0	-	NM_000068		13397337	13397338	-1	no_errors	ENST00000360228	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:0.997	G
CEACAM5	1048	genome.wustl.edu	37	19	42213623	42213623	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr19:42213623C>T	ENST00000221992.6	+	2	203	c.89C>T	c.(88-90)cCg>cTg	p.P30L	CEA_ENST00000598976.1_Missense_Mutation_p.P30L|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P30L|CEACAM5_ENST00000405816.1_Missense_Mutation_p.P30L|CEACAM7_ENST00000599715.1_5'Flank	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	30					homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TTCTGGAACCCGCCCACCACT	0.522																																						dbGAP											0													143.0	134.0	137.0					19																	42213623		2203	4300	6503	-	-	-	SO:0001583	missense	0			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.89C>T	19.37:g.42213623C>T	ENSP00000221992:p.Pro30Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	H9KVA7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P30L	ENST00000221992.6	37	c.89	CCDS12584.1	19	.	.	.	.	.	.	.	.	.	.	-	0.933	-0.712037	0.03206	.	.	ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181	T;T	0.36520	1.25;1.25	3.0	0.531	0.17108	.	.	.	.	.	T	0.19846	0.0477	N	0.20845	0.615	0.09310	N	1	B;P;P	0.45396	0.077;0.716;0.857	B;B;P	0.45167	0.051;0.279;0.472	T	0.09552	-1.0669	9	0.09338	T	0.73	.	3.2701	0.06879	0.2538:0.5977:0.0:0.1485	.	30;30;30	Q8N4D0;P06731;Q53G30	.;CEAM5_HUMAN;.	L	30	ENSP00000221992:P30L;ENSP00000385072:P30L	ENSP00000221992:P30L	P	+	2	0	CEACAM5	46905463	0.000000	0.05858	0.006000	0.13384	0.506000	0.33950	-1.665000	0.01965	0.596000	0.29794	-0.680000	0.03767	CCG	CEACAM5	-	NULL	ENSG00000105388		0.522	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM5	HGNC	protein_coding	OTTHUMT00000321132.2	444	0.22	1	C	NM_004363		42213623	42213623	+1	no_errors	ENST00000221992	ensembl	human	known	69_37n	missense	293	24.68	96	SNP	0.004	T
COL6A6	131873	genome.wustl.edu	37	3	130318620	130318621	+	Frame_Shift_Ins	INS	-	-	C	rs112135798	byFrequency	TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr3:130318620_130318621insC	ENST00000358511.6	+	19	4650_4651	c.4619_4620insC	c.(4618-4623)ggccccfs	p.GP1540fs	COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.GP1540fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1540	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGCTGGCCAGGCCCCCCCGGGA	0.5																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4626dupC	3.37:g.130318627_130318627dupC	ENSP00000351310:p.Gly1540fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Ins	INS	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.G1543fs	ENST00000358511.6	37	c.4619_4620	CCDS46911.1	3																																																																																			COL6A6	-	NULL	ENSG00000206384		0.500	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	33	0.00	0	-	NM_001102608		130318620	130318621	+1	no_errors	ENST00000358511	ensembl	human	known	69_37n	frame_shift_ins	38	11.63	5	INS	0.982:0.001	C
CPS1	1373	genome.wustl.edu	37	2	211471494	211471494	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr2:211471494A>T	ENST00000233072.5	+	18	2217	c.2021A>T	c.(2020-2022)aAt>aTt	p.N674I	CPS1_ENST00000451903.2_Missense_Mutation_p.N223I|CPS1_ENST00000430249.2_Missense_Mutation_p.N680I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	674	ATP-grasp 1.		N -> I (in CPS1D). {ECO:0000269|PubMed:17310273}.|N -> K (in CPS1D). {ECO:0000269|PubMed:21120950}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ACACTCTCCAATGCCGAGTTT	0.453																																						dbGAP											0			GRCh37	CM071656	CPS1	M							131.0	120.0	124.0					2																	211471494		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2021A>T	2.37:g.211471494A>T	ENSP00000233072:p.Asn674Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,prints_CbamoylP_synth_lsu_CPSase_dom,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.N680I	ENST00000233072.5	37	c.2039	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	A	27.7	4.855798	0.91355	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97138	-4.26;-4.26;-4.26	5.87	5.87	0.94306	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.98751	0.9580	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99755	1.1019	10	0.87932	D	0	-15.2149	16.2774	0.82651	1.0:0.0:0.0:0.0	.	684;674	Q59HF8;P31327	.;CPSM_HUMAN	I	680;682;674;223	ENSP00000402608:N680I;ENSP00000233072:N674I;ENSP00000406136:N223I	ENSP00000233072:N674I	N	+	2	0	CPS1	211179739	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	8.962000	0.93254	2.247000	0.74100	0.482000	0.46254	AAT	CPS1	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu	ENSG00000021826		0.453	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	99	0.00	0	A			211471494	211471494	+1	no_errors	ENST00000430249	ensembl	human	known	69_37n	missense	115	14.18	19	SNP	1.000	T
CRYBA2	1412	genome.wustl.edu	37	2	219856885	219856886	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr2:219856885_219856886insA	ENST00000295728.2	-	2	477_478	c.241_242insT	c.(241-243)tggfs	p.W81fs	CRYBA2_ENST00000392096.2_Frame_Shift_Ins_p.W81fs|CRYBA2_ENST00000487181.1_5'Flank	NM_057093.1	NP_476434.1	P53672	CRBA2_HUMAN	crystallin, beta A2	81	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)		structural constituent of eye lens (GO:0005212)			endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGCCACTCCAGGCGCTCCAG	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS2429.1	2q35	2013-02-14			ENSG00000163499	ENSG00000163499			2395	protein-coding gene	gene with protein product		600836				7490092, 12907171	Standard	NM_057093		Approved		uc002vjj.1	P53672	OTTHUMG00000133084	ENST00000295728.2:c.242dupT	2.37:g.219856886_219856886dupA	ENSP00000295728:p.Trp81fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFX0|Q9Y562	Frame_Shift_Ins	INS	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.W81fs	ENST00000295728.2	37	c.242_241	CCDS2429.1	2																																																																																			CRYBA2	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	ENSG00000163499		0.609	CRYBA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CRYBA2	HGNC	protein_coding	OTTHUMT00000336424.1	16	0.00	0	-	NM_057093		219856885	219856886	-1	no_errors	ENST00000295728	ensembl	human	known	69_37n	frame_shift_ins	6	40.00	4	INS	1.000:1.000	A
CSMD2	114784	genome.wustl.edu	37	1	34046410	34046410	+	Silent	SNP	G	G	A			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr1:34046410G>A	ENST00000373381.4	-	48	7506	c.7330C>T	c.(7330-7332)Ctg>Ttg	p.L2444L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2446	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACCAACGCAGGTACACAGAG	0.512																																						dbGAP											0													115.0	101.0	106.0					1																	34046410		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7330C>T	1.37:g.34046410G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.L2444	ENST00000373381.4	37	c.7330		1																																																																																			CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000121904		0.512	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		81	0.00	0	G	NM_052896		34046410	34046410	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	silent	70	10.26	8	SNP	1.000	A
ETNK1	55500	genome.wustl.edu	37	12	22797164	22797164	+	Intron	SNP	T	T	A			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr12:22797164T>A	ENST00000266517.4	+	2	772				ETNK1_ENST00000335148.3_Missense_Mutation_p.C235S	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTTGACTCTTTGCAAAGGAAA	0.333																																					Esophageal Squamous(42;87 913 3224 6226 43339)	dbGAP											0													103.0	91.0	95.0					12																	22797164		1815	4081	5896	-	-	-	SO:0001627	intron_variant	0			BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.683+208T>A	12.37:g.22797164T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	G5E969	Missense_Mutation	SNP	pfam_Choline/ethanolamine_kinase,superfamily_Kinase-like_dom	p.C235S	ENST00000266517.4	37	c.703	CCDS8698.1	12	.	.	.	.	.	.	.	.	.	.	T	8.359	0.832742	0.16820	.	.	ENSG00000139163	ENST00000335148	.	.	.	3.01	3.01	0.34805	.	.	.	.	.	T	0.17152	0.0412	N	0.04508	-0.205	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.12142	-1.0559	8	0.54805	T	0.06	.	6.3084	0.21151	0.0:0.0:0.2562:0.7438	.	235	G5E969	.	S	235	.	ENSP00000334041:C235S	C	+	1	0	ETNK1	22688431	0.055000	0.20627	0.078000	0.20375	0.084000	0.17831	0.891000	0.28309	1.386000	0.46466	0.455000	0.32223	TGC	ETNK1	-	superfamily_Kinase-like_dom	ENSG00000139163		0.333	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETNK1	HGNC	protein_coding	OTTHUMT00000401926.2	119	0.00	0	T	NM_018638		22797164	22797164	+1	no_errors	ENST00000335148	ensembl	human	known	69_37n	missense	46	35.21	25	SNP	0.052	A
FMO6P	388714	genome.wustl.edu	37	1	171121173	171121173	+	Missense_Mutation	SNP	A	A	G	rs7889839	byFrequency	TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr1:171121173A>G	ENST00000236166.3	+	6	1062	c.952A>G	c.(952-954)Atg>Gtg	p.M318V				O60774	FMO6_HUMAN	flavin containing monooxygenase 6 pseudogene	318						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)										GGATGGGACCATGTTTGAGGC	0.483													G|||	655	0.130791	0.1876	0.0865	5008	,	,		21235	0.1726		0.1392	False		,,,				2504	0.0337					dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK130511		1q24.3	2011-08-04	2006-12-04	2006-12-04	ENSG00000117507	ENSG00000117507			24024	pseudogene	pseudogene			"""flavin containing monooxygenase 6"""	FMO6		15077013	Standard	NR_002601		Approved		uc001ghj.1	O60774	OTTHUMG00000035503	ENST00000236166.3:c.952A>G	1.37:g.171121173A>G	ENSP00000236166:p.Met318Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.M318V	ENST00000236166.3	37	c.952		1	356	0.163003663003663	98	0.1991869918699187	31	0.0856353591160221	110	0.19230769230769232	117	0.15435356200527706	G	0.004	-2.275774	0.00254	.	.	ENSG00000117507	ENST00000236166	.	.	.	5.19	0.141	0.14811	.	0.389589	0.25472	N	0.030435	T	0.07773	0.0195	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36939	-0.9727	7	0.05833	T	0.94	-0.9272	10.296	0.43625	0.4572:0.0:0.5428:0.0	rs7889839;rs17566319;rs52809741;rs60614841;rs7889839	318	O60774	FMO6_HUMAN	V	318	.	ENSP00000236166:M318V	M	+	1	0	FMO6P	169387797	0.000000	0.05858	0.018000	0.16275	0.403000	0.30841	-0.037000	0.12164	-0.519000	0.06444	-1.247000	0.01520	ATG	FMO6P	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase	ENSG00000117507		0.483	FMO6P-003	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	FMO6P	HGNC	protein_coding	OTTHUMT00000385941.4	9	0.00	0	A	XM_371326		171121173	171121173	+1	no_errors	ENST00000236166	ensembl	human	novel	69_37n	missense	2	71.43	5	SNP	0.036	G
DDX42	11325	genome.wustl.edu	37	17	61897442	61897442	+	IGR	SNP	C	C	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr17:61897442C>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Missense_Mutation_p.R783Q	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CCATTACCTTCGCAGCTGTGC	0.522																																						dbGAP											0													203.0	187.0	192.0					17																	61897442		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897442C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381	p.R783Q	ENST00000578681.1	37	c.2348	CCDS32704.1	17	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787425	0.49997	.	.	ENSG00000108592	ENST00000427159	T	0.29917	1.55	4.77	3.81	0.43845	Ribosomal RNA methyltransferase, Spb1, C-terminal (1);	0.083319	0.46145	D	0.000303	T	0.18045	0.0433	L	0.28400	0.85	0.33428	D	0.580708	B	0.29115	0.233	B	0.17979	0.02	T	0.21280	-1.0250	10	0.11794	T	0.64	.	10.6798	0.45809	0.0:0.9068:0.0:0.0932	.	783	Q8IY81	RRMJ3_HUMAN	Q	783	ENSP00000396673:R783Q	ENSP00000396673:R783Q	R	-	2	0	FTSJ3	59251174	1.000000	0.71417	0.990000	0.47175	0.015000	0.08874	4.540000	0.60664	1.237000	0.43756	0.467000	0.42956	CGA	FTSJ3	-	pfam_rRNA_MeTfrase_Spb1_C	ENSG00000108592		0.522	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJ3	HGNC	protein_coding	OTTHUMT00000444368.1	256	0.00	0	C	NM_007372		61897442	61897442	-1	no_errors	ENST00000427159	ensembl	human	known	69_37n	missense	307	17.69	66	SNP	1.000	T
GMPR2	51292	genome.wustl.edu	37	14	24702445	24702445	+	5'UTR	SNP	C	C	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr14:24702445C>T	ENST00000355299.4	+	0	447				NEDD8-MDP1_ENST00000604306.1_5'Flank|GMPR2_ENST00000559836.1_5'UTR|NEDD8_ENST00000524927.1_5'Flank|GMPR2_ENST00000399440.2_5'UTR|GMPR2_ENST00000557854.1_Missense_Mutation_p.P14S|GMPR2_ENST00000420554.2_Missense_Mutation_p.P14S|GMPR2_ENST00000348719.7_5'UTR|GMPR2_ENST00000456667.3_5'UTR|NEDD8_ENST00000250495.5_5'Flank|GMPR2_ENST00000559104.1_Missense_Mutation_p.P14S|GMPR2_ENST00000559910.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_5'Flank|NEDD8_ENST00000533242.1_5'Flank	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2						GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		CATCGCTACCCCGAGGCTAAG	0.522																																						dbGAP											0													273.0	264.0	267.0					14																	24702445		2012	4187	6199	-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.-15C>T	14.37:g.24702445C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS66|Q567T0|Q6IAJ8|Q86T14	Missense_Mutation	SNP	pfam_IMP_DH_GMPRt,pfam_FMN-dep_DH,pirsf_GMP_reduct1,tigrfam_GMP_reduct1	p.P14S	ENST00000355299.4	37	c.40	CCDS41935.1	14	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816463	0.90790	.	.	ENSG00000100938	ENST00000420554	T	0.15834	2.39	4.84	0.763	0.18459	.	.	.	.	.	T	0.08935	0.0221	N	0.14661	0.345	0.20074	N	0.999931	B	0.02656	0.0	B	0.01281	0.0	T	0.31336	-0.9947	9	0.72032	D	0.01	.	3.9982	0.09568	0.1635:0.5627:0.0:0.2738	.	14	Q9P2T1-2	.	S	14	ENSP00000392859:P14S	ENSP00000392859:P14S	P	+	1	0	GMPR2	23772285	0.000000	0.05858	0.000000	0.03702	0.913000	0.54294	-1.066000	0.03454	0.033000	0.15463	0.462000	0.41574	CCG	GMPR2	-	NULL	ENSG00000100938		0.522	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GMPR2	HGNC	protein_coding	OTTHUMT00000415821.2	339	0.00	0	C	NM_016576		24702445	24702445	+1	no_errors	ENST00000420554	ensembl	human	known	69_37n	missense	513	13.86	83	SNP	0.000	T
GNPAT	8443	genome.wustl.edu	37	1	231403652	231403652	+	Intron	SNP	A	A	G			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr1:231403652A>G	ENST00000366647.4	+	9	1448				GNPAT_ENST00000366646.3_Intron	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase						cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTGGCCTGGTATGTAGGTAGG	0.433																																						dbGAP											0													58.0	59.0	59.0					1																	231403652		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1279+3A>G	1.37:g.231403652A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNM9|Q5TBH7|Q9BWC2	RNA	SNP	-	NULL	ENST00000366647.4	37	NULL	CCDS1592.1	1																																																																																			GNPAT	-	-	ENSG00000116906		0.433	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNPAT	HGNC	protein_coding	OTTHUMT00000092871.1	64	0.00	0	A			231403652	231403652	+1	no_errors	ENST00000492459	ensembl	human	known	69_37n	rna	64	25.58	22	SNP	0.975	G
IGLV6-57	28778	genome.wustl.edu	37	22	22550611	22550611	+	RNA	SNP	C	C	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr22:22550611C>T	ENST00000390285.3	+	0	374									immunoglobulin lambda variable 6-57																		CCTCCCTCACCATCTCTGGAC	0.542																																						dbGAP											0													66.0	70.0	69.0					22																	22550611		2058	4217	6275	-	-	-			0			Z73673		22q11.2	2012-02-08			ENSG00000211640	ENSG00000211640		"""Immunoglobulins / IGL locus"""	5927	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150996		22.37:g.22550611C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.T96	ENST00000390285.3	37	c.288		22																																																																																			IGLV6-57	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211640		0.542	IGLV6-57-001	KNOWN	mRNA_end_NF|basic|appris_principal	IG_V_gene	IGLV6-57	HGNC	IG_V_gene	OTTHUMT00000320861.3	121	0.00	0	C	NG_000002		22550611	22550611	+1	no_stop_codon	ENST00000390285	ensembl	human	known	69_37n	silent	62	14.86	11	SNP	0.903	T
ILF3	3609	genome.wustl.edu	37	19	10781784	10781784	+	Silent	SNP	C	C	T	rs143578737		TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr19:10781784C>T	ENST00000590261.1	+	2	138	c.138C>T	c.(136-138)tcC>tcT	p.S46S	ILF3_ENST00000250241.8_Silent_p.S46S|ILF3_ENST00000449870.1_Silent_p.S46S|ILF3_ENST00000420083.1_Silent_p.S46S|ILF3_ENST00000589998.1_Silent_p.S46S|ILF3_ENST00000318511.3_Silent_p.S46S|ILF3_ENST00000588657.1_Silent_p.S46S|ILF3_ENST00000592763.1_Silent_p.S46S|ILF3_ENST00000407004.3_Silent_p.S46S			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	46	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AAGCTGTGTCCGACTGGATAG	0.552													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19206	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													63.0	58.0	59.0					19																	10781784		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.138C>T	19.37:g.10781784C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.S46	ENST00000590261.1	37	c.138	CCDS12246.1	19																																																																																			ILF3	-	NULL	ENSG00000129351		0.552	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1	42	0.00	0	C			10781784	10781784	+1	no_errors	ENST00000449870	ensembl	human	known	69_37n	silent	58	10.61	7	SNP	0.060	T
KRTAP13-3	337960	genome.wustl.edu	37	21	31798069	31798069	+	Silent	SNP	C	C	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr21:31798069C>T	ENST00000390690.2	-	1	217	c.162G>A	c.(160-162)agG>agA	p.R54R		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	54	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						CCTGACAGCCCCTATAGAGAG	0.602																																						dbGAP											0													58.0	65.0	63.0					21																	31798069		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"""Keratin associated proteins"""	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.162G>A	21.37:g.31798069C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3LI78	Silent	SNP	pfam_PMG	p.R54	ENST00000390690.2	37	c.162	CCDS13591.1	21																																																																																			KRTAP13-3	-	pfam_PMG	ENSG00000240432		0.602	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-3	HGNC	protein_coding	OTTHUMT00000128228.2	99	0.00	0	C			31798069	31798069	-1	no_errors	ENST00000390690	ensembl	human	known	69_37n	silent	66	78.03	238	SNP	0.000	T
ITSN1	6453	genome.wustl.edu	37	21	35255938	35255938	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr21:35255938C>T	ENST00000381318.3	+	36	4927	c.4639C>T	c.(4639-4641)Cgc>Tgc	p.R1547C	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.R1486C|ITSN1_ENST00000399367.3_Missense_Mutation_p.R1542C|ITSN1_ENST00000381285.4_Missense_Mutation_p.R1547C|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1547	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CCACATTGACCGCGTCTATAC	0.532																																						dbGAP											0													118.0	115.0	116.0					21																	35255938		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4639C>T	21.37:g.35255938C>T	ENSP00000370719:p.Arg1547Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,prints_SH3_domain,prints_p67phox,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.R1547C	ENST00000381318.3	37	c.4639	CCDS33545.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.33|14.33	2.504300|2.504300	0.44558|0.44558	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000381284|ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442;ENST00000415023	.|T;T;T;T;T	.|0.68479	.|-0.33;-0.33;-0.33;-0.33;-0.33	5.23|5.23	3.24|3.24	0.37175|0.37175	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83390|0.83390	0.5244|0.5244	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.94;0.995	D|D	0.86808|0.86808	0.1996|0.1996	5|10	.|0.87932	.|D	.|0	.|.	17.1078|17.1078	0.86668|0.86668	0.1869:0.8131:0.0:0.0|0.1869:0.8131:0.0:0.0	.|.	.|1486;1542;1547	.|A8CTY3;A8CTX8;Q15811	.|.;.;ITSN1_HUMAN	L|C	226|1547;1547;1476;1542;1486;83	.|ENSP00000370719:R1547C;ENSP00000370685:R1547C;ENSP00000382301:R1542C;ENSP00000387377:R1486C;ENSP00000409800:R83C	.|ENSP00000370685:R1547C	P|R	+|+	2|1	0|0	ITSN1|ITSN1	34177808|34177808	0.975000|0.975000	0.34042|0.34042	0.997000|0.997000	0.53966|0.53966	0.769000|0.769000	0.43574|0.43574	0.627000|0.627000	0.24506|0.24506	0.694000|0.694000	0.31654|0.31654	0.650000|0.650000	0.86243|0.86243	CCG|CGC	ITSN1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000205726		0.532	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	86	0.00	0	C	NM_003024		35255938	35255938	+1	no_errors	ENST00000381285	ensembl	human	known	69_37n	missense	90	30.77	40	SNP	1.000	T
MEIS1	4211	genome.wustl.edu	37	2	66798466	66798467	+	3'UTR	INS	-	-	C	rs200212828		TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr2:66798466_66798467insC	ENST00000272369.9	+	0	1756_1757				MEIS1_ENST00000407092.2_Frame_Shift_Ins_p.P402fs|MEIS1_ENST00000495021.2_3'UTR|MEIS1_ENST00000488550.1_3'UTR|MEIS1_ENST00000398506.2_Frame_Shift_Ins_p.P400fs|AC007392.3_ENST00000433396.1_lincRNA|MEIS1_ENST00000444274.2_3'UTR	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1						angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AACCCCAGATGCCCCCCCATCC	0.574																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.*127->C	2.37:g.66798473_66798473dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV50	Frame_Shift_Ins	INS	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.H403fs	ENST00000272369.9	37	c.1203_1204	CCDS46309.1	2																																																																																			MEIS1	-	NULL	ENSG00000143995		0.574	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEIS1	HGNC	protein_coding	OTTHUMT00000319725.4	29	0.00	0	-	NM_002398		66798466	66798467	+1	no_errors	ENST00000407092	ensembl	human	known	69_37n	frame_shift_ins	24	11.11	3	INS	1.000:1.000	C
MUC16	94025	genome.wustl.edu	37	19	9090876	9090876	+	Silent	SNP	C	C	A			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr19:9090876C>A	ENST00000397910.4	-	1	1142	c.939G>T	c.(937-939)ggG>ggT	p.G313G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	313	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTCGGGCACCCCAGGAGACA	0.507																																						dbGAP											0													101.0	105.0	104.0					19																	9090876		2024	4183	6207	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.939G>T	19.37:g.9090876C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.G313	ENST00000397910.4	37	c.939	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	308	0.00	0	C	NM_024690		9090876	9090876	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	232	23.18	70	SNP	0.000	A
MUC5B	727897	genome.wustl.edu	37	11	1271132	1271132	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr11:1271132C>T	ENST00000529681.1	+	31	13080	c.13022C>T	c.(13021-13023)aCc>aTc	p.T4341I	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T4344I	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4341	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGAACAGACCACCACACCC	0.622																																						dbGAP											0													191.0	209.0	203.0					11																	1271132		2155	4242	6397	-	-	-	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13022C>T	11.37:g.1271132C>T	ENSP00000436812:p.Thr4341Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T4344I	ENST00000529681.1	37	c.13031	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	2.547	-0.304845	0.05495	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.19105	2.17;2.33	2.0	1.0	0.19881	.	.	.	.	.	T	0.20088	0.0483	M	0.62723	1.935	0.09310	N	1	B;B	0.21225	0.053;0.053	B;B	0.20955	0.032;0.032	T	0.29941	-0.9995	9	0.87932	D	0	.	4.6173	0.12433	0.0:0.623:0.2305:0.1465	.	4814;4344	A7Y9J9;E9PBJ0	.;.	I	4341;4344;4285;4191;120	ENSP00000436812:T4341I;ENSP00000415793:T4344I	ENSP00000343037:T4285I	T	+	2	0	MUC5B	1227708	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	0.123000	0.15708	0.133000	0.18654	0.184000	0.17185	ACC	MUC5B	-	NULL	ENSG00000117983		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	42	0.00	0	C	XM_001126093		1271132	1271132	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	missense	34	29.17	14	SNP	0.001	T
NBPF12	149013	genome.wustl.edu	37	1	146465204	146465205	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr1:146465204_146465205insG	ENST00000442909.2	+	81	10533_10534	c.9697_9698insG	c.(9697-9699)aaafs	p.K3233fs	NBPF12_ENST00000446760.2_Intron|NBPF12_ENST00000309471.8_Intron			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	171						cytoplasm (GO:0005737)				ovary(2)	2						atcaaagaagaaaagaagaagg	0.416																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	Exception_encountered	1.37:g.146465204_146465205insG	ENSP00000391116:p.Lys3233fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O95877	Frame_Shift_Ins	INS	pfam_NBPF_dom	p.K3233fs	ENST00000442909.2	37	c.9697_9698		1																																																																																			NBPF12	-	NULL	ENSG00000186275		0.416	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	NBPF12	HGNC	protein_coding	OTTHUMT00000102086.3	11	0.00	0	-	XM_003119146		146465204	146465205	+1	no_errors	ENST00000442909	ensembl	human	novel	69_37n	frame_shift_ins	7	41.67	5	INS	0.369:0.372	G
NID1	4811	genome.wustl.edu	37	1	236189206	236189206	+	Silent	SNP	C	C	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr1:236189206C>T	ENST00000264187.6	-	8	2056	c.1974G>A	c.(1972-1974)ggG>ggA	p.G658G	NID1_ENST00000366595.3_Silent_p.G658G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	658	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CCCTCACAGGCCCAATGGAGT	0.532																																						dbGAP											0													212.0	201.0	205.0					1																	236189206		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1974G>A	1.37:g.236189206C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.G658	ENST00000264187.6	37	c.1974	CCDS1608.1	1																																																																																			NID1	-	superfamily_Green_fluorescent_prot-like,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F	ENSG00000116962		0.532	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	188	0.00	0	C	NM_002508		236189206	236189206	-1	no_errors	ENST00000264187	ensembl	human	known	69_37n	silent	159	22.06	45	SNP	0.965	T
NOL8	55035	genome.wustl.edu	37	9	95077771	95077771	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr9:95077771C>T	ENST00000535387.1	-	6	1135	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	NOL8_ENST00000358855.4_Missense_Mutation_p.G311E|NOL8_ENST00000545558.1_Missense_Mutation_p.G379E|NOL8_ENST00000442668.2_Missense_Mutation_p.G379E|NOL8_ENST00000542053.1_Missense_Mutation_p.G311E					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ATCTGTATCTCCTGAGTCATA	0.323																																						dbGAP											0													60.0	51.0	54.0					9																	95077771		1854	4090	5944	-	-	-	SO:0001583	missense	0			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1136G>A	9.37:g.95077771C>T	ENSP00000441300:p.Gly379Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G379E	ENST00000535387.1	37	c.1136	CCDS47993.1	9	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531280	0.64972	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.46819	2.44;2.45;2.44;2.64;2.45;2.16;0.86	5.63	2.34	0.29019	.	0.241175	0.40818	N	0.001001	T	0.30417	0.0764	L	0.27053	0.805	0.24237	N	0.995371	B	0.24533	0.105	B	0.22880	0.042	T	0.23119	-1.0197	10	0.72032	D	0.01	-4.721	5.8082	0.18452	0.0:0.4646:0.2674:0.268	.	379	Q76FK4	NOL8_HUMAN	E	379;381;311;379;379;311;379;379	ENSP00000401177:G379E;ENSP00000351723:G311E;ENSP00000441140:G379E;ENSP00000441300:G379E;ENSP00000440709:G311E;ENSP00000414112:G379E;ENSP00000412471:G379E	ENSP00000351723:G311E	G	-	2	0	NOL8	94117592	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	3.057000	0.49931	0.610000	0.30035	0.609000	0.83330	GGA	NOL8	-	NULL	ENSG00000198000		0.323	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	118	0.00	0	C	NM_017948		95077771	95077771	-1	no_errors	ENST00000442668	ensembl	human	known	69_37n	missense	105	16.00	20	SNP	0.996	T
OR2T34	127068	genome.wustl.edu	37	1	248737984	248737984	+	Silent	SNP	C	C	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr1:248737984C>T	ENST00000328782.2	-	1	96	c.75G>A	c.(73-75)gaG>gaA	p.E25E		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGCTTGCTCTCAGCAAAGA	0.542																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.75G>A	1.37:g.248737984C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.E25	ENST00000328782.2	37	c.75	CCDS31120.1	1																																																																																			OR2T34	-	NULL	ENSG00000183310		0.542	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T34	HGNC	protein_coding	OTTHUMT00000097138.1	402	0.00	0	C	NM_001001821		248737984	248737984	-1	no_errors	ENST00000328782	ensembl	human	known	69_37n	silent	252	23.87	79	SNP	0.001	T
OTOP3	347741	genome.wustl.edu	37	17	72937790	72937790	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr17:72937790G>A	ENST00000328801.4	+	2	376	c.376G>A	c.(376-378)Gcc>Acc	p.A126T		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	126						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GATCCTGCTGGCCACGCTGAA	0.617																																						dbGAP											0													78.0	63.0	68.0					17																	72937790		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.376G>A	17.37:g.72937790G>A	ENSP00000328090:p.Ala126Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Otopetrin	p.A126T	ENST00000328801.4	37	c.376	CCDS11709.1	17	.	.	.	.	.	.	.	.	.	.	G	5.242	0.230149	0.09969	.	.	ENSG00000182938	ENST00000328801	T	0.06687	3.27	4.86	4.86	0.63082	.	0.272293	0.30658	N	0.009160	T	0.05181	0.0138	L	0.28115	0.83	0.34186	D	0.671484	B	0.23442	0.085	B	0.15052	0.012	T	0.11251	-1.0595	10	0.02654	T	1	-14.75	11.4154	0.49949	0.0:0.0:0.6859:0.3141	.	126	Q7RTS5	OTOP3_HUMAN	T	126	ENSP00000328090:A126T	ENSP00000328090:A126T	A	+	1	0	OTOP3	70449385	0.985000	0.35326	0.959000	0.39883	0.777000	0.43975	1.429000	0.34903	2.230000	0.72887	0.462000	0.41574	GCC	OTOP3	-	NULL	ENSG00000182938		0.617	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP3	HGNC	protein_coding	OTTHUMT00000445308.1	56	0.00	0	G	NM_178233		72937790	72937790	+1	no_errors	ENST00000328801	ensembl	human	known	69_37n	missense	40	51.22	42	SNP	0.993	A
PHLPP1	23239	genome.wustl.edu	37	18	60642791	60642794	+	Frame_Shift_Del	DEL	GATC	GATC	-			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	GATC	GATC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr18:60642791_60642794delGATC	ENST00000262719.5	+	16	4151_4154	c.3917_3920delGATC	c.(3916-3921)agatctfs	p.RS1306fs	PHLPP1_ENST00000400316.4_Frame_Shift_Del_p.RS794fs			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1306	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CCTCTGTCCAGATCTTACATCATG	0.505																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3917_3920delGATC	18.37:g.60642791_60642794delGATC	ENSP00000262719:p.Arg1306fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Frame_Shift_Del	DEL	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology	p.R1306fs	ENST00000262719.5	37	c.3917_3920	CCDS45881.2	18																																																																																			PHLPP1	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000081913		0.505	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	230	0.00	0	GATC	NM_194449		60642791	60642794	+1	no_errors	ENST00000262719	ensembl	human	known	69_37n	frame_shift_del	136	53.53	167	DEL	0.853:0.798:0.886:0.840	-
PHLPP1	23239	genome.wustl.edu	37	18	60642800	60642801	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr18:60642800_60642801insA	ENST00000262719.5	+	16	4160_4161	c.3926_3927insA	c.(3925-3930)atcatgfs	p.M1310fs	PHLPP1_ENST00000400316.4_Frame_Shift_Ins_p.M798fs			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1310	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						AGATCTTACATCATGAGCTGTG	0.505																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	Exception_encountered	18.37:g.60642800_60642801insA	ENSP00000262719:p.Met1310fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Frame_Shift_Ins	INS	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology	p.M1310fs	ENST00000262719.5	37	c.3926_3927	CCDS45881.2	18																																																																																			PHLPP1	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000081913		0.505	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	231	0.00	0	-	NM_194449		60642800	60642801	+1	no_errors	ENST00000262719	ensembl	human	known	69_37n	frame_shift_ins	146	51.01	152	INS	0.971:0.989	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	162	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	151	28.77	61	SNP	1.000	G
PIK3R1	5295	genome.wustl.edu	37	5	67589269	67589269	+	Silent	SNP	A	A	G			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr5:67589269A>G	ENST00000521381.1	+	10	1873	c.1257A>G	c.(1255-1257)aaA>aaG	p.K419K	PIK3R1_ENST00000320694.8_Silent_p.K119K|PIK3R1_ENST00000336483.5_Silent_p.K149K|PIK3R1_ENST00000523872.1_Silent_p.K56K|PIK3R1_ENST00000521657.1_Silent_p.K419K|PIK3R1_ENST00000396611.1_Silent_p.K419K|PIK3R1_ENST00000274335.5_Silent_p.K419K	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	419	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ATAATCCCAAATTGGATGTGA	0.348			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												dbGAP		Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											45.0	46.0	46.0					5																	67589269		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1257A>G	5.37:g.67589269A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Silent	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.K419	ENST00000521381.1	37	c.1257	CCDS3993.1	5																																																																																			PIK3R1	-	pfscan_SH2	ENSG00000145675		0.348	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	116	0.00	0	A	NM_181504		67589269	67589269	+1	no_errors	ENST00000396611	ensembl	human	known	69_37n	silent	77	22.22	22	SNP	0.839	G
PPM1F	9647	genome.wustl.edu	37	22	22279937	22279940	+	Splice_Site	DEL	CTCA	CTCA	-			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	CTCA	CTCA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr22:22279937_22279940delCTCA	ENST00000263212.5	-	7	1091		c.e7+1		PPM1F_ENST00000397495.4_Frame_Shift_Del_p.GE329fs|PPM1F_ENST00000538191.1_Splice_Site|PPM1F_ENST00000407142.1_Splice_Site	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F						cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CTCTTTGGCTCTCACCGATGGCTC	0.623																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.985+1TGAG>-	22.37:g.22279937_22279940delCTCA		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6G3|B7Z2C3|Q96PM2	Frame_Shift_Del	DEL	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.E330fs	ENST00000263212.5	37	c.990_987	CCDS13796.1	22																																																																																			PPM1F	-	pfam_PP2C-like,smart_PP2C-like	ENSG00000100034		0.623	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1F	HGNC	protein_coding	OTTHUMT00000320267.2	15	0.00	0	CTCA	NM_014634	Intron	22279937	22279940	-1	no_errors	ENST00000397495	ensembl	human	novel	69_37n	frame_shift_del	7	81.08	30	DEL	0.996:1.000:0.997:1.000	-
RFC4	5984	genome.wustl.edu	37	3	186507944	186507944	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr3:186507944delG	ENST00000392481.2	-	10	1264	c.983delC	c.(982-984)acafs	p.T328fs	RFC4_ENST00000296273.2_Frame_Shift_Del_p.T328fs|SNORA63_ENST00000363450.1_RNA|SNORA4_ENST00000584302.1_RNA|RFC4_ENST00000433496.1_Frame_Shift_Del_p.T301fs	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	328					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		AAGTTTTTCTGTGATAATAGA	0.358																																						dbGAP											0													108.0	103.0	105.0					3																	186507944		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.983delC	3.37:g.186507944delG	ENSP00000376272:p.Thr328fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DM41|D3DNV2|Q6FHX7	Frame_Shift_Del	DEL	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.T328fs	ENST00000392481.2	37	c.983	CCDS3283.1	3																																																																																			RFC4	-	pfam_Rep_factorC_C_dom,superfamily_DNA_pol3_clamp-load_cplx_C	ENSG00000163918		0.358	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC4	HGNC	protein_coding	OTTHUMT00000344471.1	201	0.00	0	G	NM_002916		186507944	186507944	-1	no_errors	ENST00000296273	ensembl	human	known	69_37n	frame_shift_del	111	14.29	19	DEL	1.000	-
RPS6KL1	83694	genome.wustl.edu	37	14	75377983	75377984	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr14:75377983_75377984insG	ENST00000555647.1	-	7	918_919	c.631_632insC	c.(631-633)gacfs	p.D211fs	RPS6KL1_ENST00000557413.1_Frame_Shift_Ins_p.D211fs|RPS6KL1_ENST00000354625.2_Frame_Shift_Ins_p.D180fs|RPS6KL1_ENST00000358328.4_Frame_Shift_Ins_p.D211fs|RPS6KL1_ENST00000554900.1_5'Flank			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GAAGATGGAGTCCTCGCTCACA	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.631_632insC	14.37:g.75377983_75377984insG	ENSP00000452027:p.Asp211fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D211fs	ENST00000555647.1	37	c.632_631	CCDS9834.2	14																																																																																			RPS6KL1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000198208		0.599	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPS6KL1	HGNC	protein_coding	OTTHUMT00000413732.1	32	0.00	0	-			75377983	75377984	-1	no_errors	ENST00000358328	ensembl	human	known	69_37n	frame_shift_ins	24	84.21	128	INS	1.000:1.000	G
SLC12A6	9990	genome.wustl.edu	37	15	34628702	34628702	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr15:34628702C>T	ENST00000354181.3	-	2	672	c.180G>A	c.(178-180)atG>atA	p.M60I	SLC12A6_ENST00000458406.2_Start_Codon_SNP_p.M1I|SLC12A6_ENST00000560611.1_Missense_Mutation_p.M60I|SLC12A6_ENST00000558589.1_Missense_Mutation_p.M51I|SLC12A6_ENST00000558667.1_Missense_Mutation_p.M60I|SLC12A6_ENST00000397707.2_Missense_Mutation_p.M60I|SLC12A6_ENST00000397702.2_Start_Codon_SNP_p.M1I			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	60					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	ACATCTCACTCATAGGCTCAC	0.557																																						dbGAP											0													64.0	71.0	69.0					15																	34628702		2178	4286	6464	-	-	-	SO:0001583	missense	0			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.180G>A	15.37:g.34628702C>T	ENSP00000346112:p.Met60Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.M51I	ENST00000354181.3	37	c.153	CCDS58352.1	15	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852273	0.32699	.	.	ENSG00000140199	ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406	D;D;D	0.82803	-1.65;-1.61;-1.61	4.89	2.98	0.34508	.	0.256716	0.36740	N	0.002428	T	0.60470	0.2271	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44314	-0.9336	10	0.21014	T	0.42	.	3.9677	0.09439	0.1486:0.4998:0.2658:0.0859	.	60;60	Q9UHW9-3;Q9UHW9	.;S12A6_HUMAN	I	60;51;1;1	ENSP00000380819:M60I;ENSP00000380814:M1I;ENSP00000387725:M1I	ENSP00000346112:M51I	M	-	3	0	SLC12A6	32415994	0.979000	0.34478	0.976000	0.42696	0.990000	0.78478	0.149000	0.16243	0.640000	0.30582	0.563000	0.77884	ATG	SLC12A6	-	NULL	ENSG00000140199		0.557	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC12A6	HGNC	protein_coding	OTTHUMT00000417991.1	55	0.00	0	C	NM_005135		34628702	34628702	-1	no_errors	ENST00000558589	ensembl	human	known	69_37n	missense	48	14.29	8	SNP	0.393	T
STAC2	342667	genome.wustl.edu	37	17	37369272	37369272	+	Silent	SNP	A	A	C			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr17:37369272A>C	ENST00000333461.5	-	10	1476	c.1107T>G	c.(1105-1107)ggT>ggG	p.G369G		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	369					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						GGCTCATGTAACCCTGTTCCT	0.632																																						dbGAP											0													78.0	75.0	76.0					17																	37369272		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.1107T>G	17.37:g.37369272A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MA3	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox	p.G369	ENST00000333461.5	37	c.1107	CCDS11335.1	17																																																																																			STAC2	-	superfamily_SH3_domain	ENSG00000141750		0.632	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC2	HGNC	protein_coding	OTTHUMT00000444533.2	33	0.00	0	A	NM_198993		37369272	37369272	-1	no_errors	ENST00000333461	ensembl	human	known	69_37n	silent	3	75.00	9	SNP	0.770	C
TARS2	80222	genome.wustl.edu	37	1	150470165	150470165	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr1:150470165T>C	ENST00000369064.3	+	10	1214	c.1180T>C	c.(1180-1182)Tct>Cct	p.S394P	TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Missense_Mutation_p.S264P|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000606933.1_Missense_Mutation_p.S312P	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	394					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GAGTGACGATTCTACCAGGCA	0.537																																						dbGAP											0													63.0	55.0	57.0					1																	150470165		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1180T>C	1.37:g.150470165T>C	ENSP00000358060:p.Ser394Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-synth_IIa,tigrfam_Thr-tRNA-synth_IIa	p.S394P	ENST00000369064.3	37	c.1180	CCDS952.1	1	.	.	.	.	.	.	.	.	.	.	T	4.121	0.020635	0.08006	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	.	.	.	5.26	-5.78	0.02362	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.948324	0.08795	N	0.892668	T	0.07143	0.0181	N	0.19112	0.55	0.09310	N	1	B;B;B	0.12013	0.001;0.005;0.0	B;B;B	0.16722	0.005;0.016;0.002	T	0.27839	-1.0062	9	0.32370	T	0.25	-20.3982	3.2456	0.06796	0.1212:0.4939:0.1237:0.2613	.	264;119;394	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	P	264;394;119;119	.	ENSP00000358047:S119P	S	+	1	0	TARS2	148736789	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.734000	0.04893	-1.341000	0.02225	-0.242000	0.12053	TCT	TARS2	-	pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa	ENSG00000143374		0.537	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	128	0.00	0	T	NM_025150		150470165	150470165	+1	no_errors	ENST00000369064	ensembl	human	known	69_37n	missense	140	25.79	49	SNP	0.000	C
TRBV9	28586	genome.wustl.edu	37	7	142239697	142239697	+	RNA	SNP	G	G	A			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr7:142239697G>A	ENST00000390363.2	-	0	229				TRBV5-3_ENST00000390362.1_RNA					T cell receptor beta variable 9																		GGAACTGGAGGCCCTGGTCCA	0.507																																						dbGAP											0													82.0	80.0	81.0					7																	142239697		1923	4138	6061	-	-	-			0			L36092		7q34	2012-02-07			ENSG00000211716	ENSG00000211716		"""T cell receptors / TRB locus"""	12246	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV1S1A1N1, TCRBV9S1			OTTHUMG00000158527		7.37:g.142239697G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.G61	ENST00000390363.2	37	c.183		7																																																																																			TRBV9	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211716		0.507	TRBV9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV9	HGNC	TR_V_gene	OTTHUMT00000351233.1	153	0.00	0	G	NG_001333		142239697	142239697	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390363	ensembl	human	known	69_37n	silent	182	12.50	26	SNP	0.000	A
TROVE2	6738	genome.wustl.edu	37	1	193051360	193051360	+	Silent	SNP	C	C	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr1:193051360C>T	ENST00000367446.3	+	7	1458	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S	TROVE2_ENST00000367444.3_Silent_p.S416S|TROVE2_ENST00000367445.3_Silent_p.S416S|TROVE2_ENST00000367441.1_Silent_p.S416S|TROVE2_ENST00000400968.2_Silent_p.S416S|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367443.1_Silent_p.S416S|TROVE2_ENST00000416058.2_Silent_p.S141S|TROVE2_ENST00000432079.1_Silent_p.S141S	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	416	VWFA-like domain. {ECO:0000250}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TTGCTTTTTCCGATGAAATGG	0.343																																						dbGAP											0													139.0	126.0	130.0					1																	193051360		1828	4078	5906	-	-	-	SO:0001819	synonymous_variant	0			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.1248C>T	1.37:g.193051360C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Silent	SNP	pfam_TROVE,pfscan_TROVE	p.S416	ENST00000367446.3	37	c.1248	CCDS1379.1	1																																																																																			TROVE2	-	NULL	ENSG00000116747		0.343	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1	131	0.00	0	C	NM_004600		193051360	193051360	+1	no_errors	ENST00000367441	ensembl	human	known	69_37n	silent	98	22.22	28	SNP	0.164	T
TSPAN33	340348	genome.wustl.edu	37	7	128807705	128807706	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr7:128807705_128807706delCA	ENST00000289407.4	+	8	951_952	c.842_843delCA	c.(841-843)ccafs	p.P281fs	Y_RNA_ENST00000363759.1_RNA|RP11-286H14.6_ENST00000498745.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	281					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CGGGCTGACCCATGGTACTGAG	0.515																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.842_843delCA	7.37:g.128807705_128807706delCA	ENSP00000289407:p.Pro281fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.P281fs	ENST00000289407.4	37	c.842_843	CCDS5810.1	7																																																																																			TSPAN33	-	NULL	ENSG00000158457		0.515	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN33	HGNC	protein_coding	OTTHUMT00000350983.1	29	0.00	0	CA	NM_178562		128807705	128807706	+1	no_errors	ENST00000289407	ensembl	human	known	69_37n	frame_shift_del	27	34.88	15	DEL	0.994:0.443	-
UBR5	51366	genome.wustl.edu	37	8	103309809	103309809	+	Silent	SNP	C	C	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr8:103309809C>T	ENST00000520539.1	-	27	4056	c.3450G>A	c.(3448-3450)gaG>gaA	p.E1150E	UBR5_ENST00000220959.4_Silent_p.E1150E|UBR5_ENST00000521922.1_Silent_p.E1144E	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1150					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATACATCTTCCTCTTTTTCAC	0.363																																					Ovarian(131;96 1741 5634 7352 27489)	dbGAP											0													114.0	110.0	111.0					8																	103309809		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.3450G>A	8.37:g.103309809C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.E1150	ENST00000520539.1	37	c.3450	CCDS34933.1	8																																																																																			UBR5	-	NULL	ENSG00000104517		0.363	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	111	0.00	0	C	NM_015902		103309809	103309809	-1	no_errors	ENST00000520539	ensembl	human	known	69_37n	silent	32	87.69	228	SNP	0.944	T
USP45	85015	genome.wustl.edu	37	6	99887726	99887726	+	Silent	SNP	G	G	C			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr6:99887726G>C	ENST00000327681.6	-	16	2611	c.2079C>G	c.(2077-2079)ggC>ggG	p.G693G	USP45_ENST00000392738.2_Silent_p.G373G|USP45_ENST00000369233.2_Silent_p.G645G|USP45_ENST00000500704.2_Silent_p.G693G|USP45_ENST00000539675.1_5'UTR	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	693	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		GAAGACTCAAGCCAGCCTTAA	0.323																																						dbGAP											0													58.0	58.0	58.0					6																	99887726		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.2079C>G	6.37:g.99887726G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Silent	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.G693	ENST00000327681.6	37	c.2079	CCDS34501.1	6																																																																																			USP45	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000123552		0.323	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP45	HGNC	protein_coding	OTTHUMT00000041609.2	106	0.00	0	G	NM_032929		99887726	99887726	-1	no_errors	ENST00000327681	ensembl	human	known	69_37n	silent	76	30.91	34	SNP	0.988	C
ZDHHC19	131540	genome.wustl.edu	37	3	195937533	195937533	+	Silent	SNP	G	G	A			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr3:195937533G>A	ENST00000296326.3	-	2	301	c.222C>T	c.(220-222)ttC>ttT	p.F74F	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	74						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		AAACAAGACTGAAGAAGGTAA	0.557																																						dbGAP											0													68.0	75.0	73.0					3																	195937533		1986	4169	6155	-	-	-	SO:0001819	synonymous_variant	0			BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.222C>T	3.37:g.195937533G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSY6|B3KVI1	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.F74	ENST00000296326.3	37	c.222	CCDS43190.1	3																																																																																			ZDHHC19	-	NULL	ENSG00000163958		0.557	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZDHHC19	HGNC	protein_coding	OTTHUMT00000341533.1	21	0.00	0	G	NM_144637		195937533	195937533	-1	no_errors	ENST00000296326	ensembl	human	known	69_37n	silent	25	28.57	10	SNP	1.000	A
ZNF561	93134	genome.wustl.edu	37	19	9721093	9721093	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr19:9721093T>G	ENST00000302851.3	-	6	1607	c.1244A>C	c.(1243-1245)cAt>cCt	p.H415P	ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000354661.4_Missense_Mutation_p.H279P|ZNF561_ENST00000424629.1_Missense_Mutation_p.H346P	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TTCTCCACTATGAGTTTTCAA	0.418																																						dbGAP											0													137.0	133.0	135.0					19																	9721093		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.1244A>C	19.37:g.9721093T>G	ENSP00000303915:p.His415Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2Q8|Q6PJS0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H415P	ENST00000302851.3	37	c.1244	CCDS12216.2	19	.	.	.	.	.	.	.	.	.	.	T	14.58	2.576653	0.45902	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661	T;T;T	0.67698	-0.28;-0.28;-0.28	1.1	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81964	0.4934	M	0.92317	3.295	0.38267	D	0.942036	D	0.60575	0.988	D	0.76575	0.988	T	0.82065	-0.0642	9	0.87932	D	0	.	6.3586	0.21414	0.0:0.0:0.0:1.0	.	415	Q8N587	ZN561_HUMAN	P	346;415;279	ENSP00000393074:H346P;ENSP00000303915:H415P;ENSP00000346687:H279P	ENSP00000303915:H415P	H	-	2	0	ZNF561	9582093	1.000000	0.71417	0.004000	0.12327	0.038000	0.13279	6.138000	0.71717	0.753000	0.32945	0.248000	0.18094	CAT	ZNF561	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171469		0.418	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF561	HGNC	protein_coding	OTTHUMT00000347272.2	455	0.22	1	T	NM_152289		9721093	9721093	-1	no_errors	ENST00000302851	ensembl	human	known	69_37n	missense	468	23.49	144	SNP	0.999	G
ZNF536	9745	genome.wustl.edu	37	19	31040294	31040294	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr19:31040294G>T	ENST00000355537.3	+	4	3915	c.3768G>T	c.(3766-3768)caG>caT	p.Q1256H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1256					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGGGCCCCAGAGCCTGGACA	0.597																																						dbGAP											0													19.0	20.0	20.0					19																	31040294		2191	4281	6472	-	-	-	SO:0001583	missense	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3768G>T	19.37:g.31040294G>T	ENSP00000347730:p.Gln1256His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q1256H	ENST00000355537.3	37	c.3768	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	8.412	0.844362	0.16963	.	.	ENSG00000198597	ENST00000355537	T	0.08984	3.03	5.18	5.18	0.71444	.	0.644924	0.16086	N	0.230282	T	0.07324	0.0185	N	0.24115	0.695	0.25819	N	0.984305	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17992	-1.0351	10	0.46703	T	0.11	-8.558	12.8136	0.57652	0.0:0.0:0.837:0.1629	.	1256;1256	A7E228;O15090	.;ZN536_HUMAN	H	1256	ENSP00000347730:Q1256H	ENSP00000347730:Q1256H	Q	+	3	2	ZNF536	35732134	1.000000	0.71417	0.997000	0.53966	0.800000	0.45204	1.725000	0.38074	2.401000	0.81631	0.650000	0.86243	CAG	ZNF536	-	NULL	ENSG00000198597		0.597	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	11	0.00	0	G	NM_014717		31040294	31040294	+1	no_errors	ENST00000355537	ensembl	human	known	69_37n	missense	17	34.62	9	SNP	1.000	T
ZNF576	79177	genome.wustl.edu	37	19	44103077	44103077	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09D-01A-11W-A019-09	TCGA-A8-A09D-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d0ef396f-4e9f-40ba-a09c-0a96832cabf9	4cc17aa7-57b9-4618-bd04-42378c11d27b	g.chr19:44103077C>G	ENST00000336564.4	+	3	334	c.180C>G	c.(178-180)gaC>gaG	p.D60E	ZNF576_ENST00000528387.1_Missense_Mutation_p.D60E|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Missense_Mutation_p.D60E|ZNF576_ENST00000529930.1_Missense_Mutation_p.D60E|ZNF576_ENST00000391965.2_Missense_Mutation_p.D60E|ZNF576_ENST00000533118.1_Missense_Mutation_p.D60E|SRRM5_ENST00000526798.1_Intron|IRGQ_ENST00000422989.1_5'Flank	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	60					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				ACCCAGCGGACTTCGTGGCCC	0.647																																						dbGAP											0													83.0	98.0	93.0					19																	44103077		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"""Zinc fingers, C2H2-type"""	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.180C>G	19.37:g.44103077C>G	ENSP00000337852:p.Asp60Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BU03	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D60E	ENST00000336564.4	37	c.180	CCDS12625.1	19	.	.	.	.	.	.	.	.	.	.	C	8.544	0.873998	0.17395	.	.	ENSG00000124444	ENST00000391965;ENST00000525771;ENST00000533118;ENST00000528387;ENST00000529930;ENST00000336564	T;T;T;T;T;T	0.01240	5.12;5.12;5.12;5.12;5.12;5.12	3.93	1.8	0.24995	.	0.152775	0.41396	D	0.000882	T	0.00580	0.0019	N	0.02539	-0.55	0.80722	D	1	P	0.38473	0.633	B	0.36845	0.234	T	0.57917	-0.7728	10	0.02654	T	1	-14.5045	6.5367	0.22357	0.0:0.7807:0.0:0.2193	.	60	Q9H609	ZN576_HUMAN	E	60	ENSP00000375827:D60E;ENSP00000436182:D60E;ENSP00000435899:D60E;ENSP00000435934:D60E;ENSP00000435463:D60E;ENSP00000337852:D60E	ENSP00000337852:D60E	D	+	3	2	ZNF576	48794917	0.999000	0.42202	0.999000	0.59377	0.989000	0.77384	0.377000	0.20552	0.641000	0.30601	-0.216000	0.12614	GAC	ZNF576	-	NULL	ENSG00000124444		0.647	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF576	HGNC	protein_coding	OTTHUMT00000384397.1	148	0.00	0	C	NM_024327		44103077	44103077	+1	no_errors	ENST00000336564	ensembl	human	known	69_37n	missense	60	17.81	13	SNP	1.000	G
