#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_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_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACSF2	80221	hgsc.bcm.edu;ucsc.edu	37	17	48548424	48548424	+	Silent	SNP	A	A	G			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr17:48548424A>G	ENST00000300441.4	+	11	1355	c.1251A>G	c.(1249-1251)acA>acG	p.T417T	ACSF2_ENST00000427954.2_Silent_p.T442T|ACSF2_ENST00000502667.1_Silent_p.T404T|ACSF2_ENST00000504392.1_Silent_p.T374T|CHAD_ENST00000258969.4_5'Flank|ACSF2_ENST00000541920.1_Silent_p.T257T|ACSF2_ENST00000506085.1_3'UTR|CHAD_ENST00000508540.1_5'Flank	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	417					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GTCCCGTGACATTCGCGCACT	0.552																																																	0													112.0	96.0	102.0					17																	48548424		2203	4300	6503	SO:0001819	synonymous_variant	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1251A>G	17.37:g.48548424A>G		Somatic		WXS	SOLID	Phase_I	B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Silent	SNP	ENST00000300441.4	37	CCDS11567.1																																																																																				0.552	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3		NM_025149	
AFF2	2334	hgsc.bcm.edu;ucsc.edu	37	X	148037494	148037494	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chrX:148037494C>A	ENST00000370460.2	+	11	2398	c.1919C>A	c.(1918-1920)aCt>aAt	p.T640N	AFF2_ENST00000370457.5_Missense_Mutation_p.T607N|AFF2_ENST00000286437.5_Missense_Mutation_p.T281N|AFF2_ENST00000342251.3_Missense_Mutation_p.T607N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	640					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACACCAGCACTGACGAGTTT	0.448																																																	0													103.0	109.0	107.0					X																	148037494		2203	4300	6503	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1919C>A	X.37:g.148037494C>A	ENSP00000359489:p.Thr640Asn	Somatic		WXS	SOLID	Phase_I	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	T	1.146	-0.647997	0.03506	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.5	-0.0792	0.13711	.	1.339000	0.04492	N	0.379795	T	0.49012	0.1532	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B	0.21688	0.059;0.047;0.047;0.047;0.047;0.059	B;B;B;B;B;B	0.24974	0.057;0.021;0.021;0.021;0.034;0.057	T	0.24584	-1.0156	10	0.19147	T	0.46	.	7.5448	0.27759	0.0:0.3607:0.1142:0.525	.	281;605;607;601;630;640	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	N	640;607;607;281	ENSP00000359489:T640N;ENSP00000359486:T607N;ENSP00000345459:T607N;ENSP00000286437:T281N	ENSP00000286437:T281N	T	+	2	0	AFF2	147845194	0.164000	0.22935	0.154000	0.22540	0.435000	0.31806	0.385000	0.20685	-0.295000	0.08960	-0.372000	0.07161	ACT		0.448	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2		NM_002025	
APBB3	10307	hgsc.bcm.edu	37	5	139941190	139941190	+	Silent	SNP	T	T	C			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr5:139941190T>C	ENST00000357560.4	-	8	1172	c.729A>G	c.(727-729)ctA>ctG	p.L243L	APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000356738.2_Silent_p.L248L|APBB3_ENST00000511201.2_Silent_p.L241L|APBB3_ENST00000358580.5_Silent_p.L243L|APBB3_ENST00000354402.5_Silent_p.L250L|APBB3_ENST00000412920.3_Silent_p.L241L|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000508496.2_Silent_p.L20L	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	243	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGCCCATGTAGGGCACTGG	0.542																																																	0													128.0	124.0	125.0					5																	139941190		2203	4300	6503	SO:0001819	synonymous_variant	10307			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.729A>G	5.37:g.139941190T>C		Somatic		WXS	SOLID	Phase_I	B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Silent	SNP	ENST00000357560.4	37	CCDS4229.1																																																																																				0.542	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2		NM_006051	
ARID4A	5926	hgsc.bcm.edu;ucsc.edu	37	14	58790270	58790270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr14:58790270G>T	ENST00000355431.3	+	8	890	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	ARID4A_ENST00000431317.2_Nonsense_Mutation_p.E173*|ARID4A_ENST00000395168.3_Nonsense_Mutation_p.E173*|ARID4A_ENST00000348476.3_Nonsense_Mutation_p.E173*	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	173					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCTCAATGATGAATTACTAGG	0.388																																																	0													151.0	144.0	146.0					14																	58790270		2203	4300	6503	SO:0001587	stop_gained	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.517G>T	14.37:g.58790270G>T	ENSP00000347602:p.Glu173*	Somatic		WXS	SOLID	Phase_I	Q15991|Q15992|Q15993	Nonsense_Mutation	SNP	ENST00000355431.3	37	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	39	7.516654	0.98332	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000431317	.	.	.	5.44	5.44	0.79542	.	0.044346	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-27.875	19.6391	0.95749	0.0:0.0:1.0:0.0	.	.	.	.	X	173;173;173;136;173	.	ENSP00000344556:E173X	E	+	1	0	ARID4A	57860023	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	8.385000	0.90163	2.715000	0.92844	0.655000	0.94253	GAA		0.388	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2		NM_023001	
PHF7	51533	hgsc.bcm.edu;ucsc.edu	37	3	52442567	52442567	+	5'Flank	SNP	G	G	A			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr3:52442567G>A	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000296288.5_Nonsense_Mutation_p.R60*|BAP1_ENST00000460680.1_Nonsense_Mutation_p.R60*	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.S58fs*8(1)|p.R60*(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GAGACCTTTCGCCGGGACCGG	0.502																																																	2	Substitution - Nonsense(1)|Deletion - Frameshift(1)	eye(1)|skin(1)											50.0	44.0	46.0					3																	52442567		2203	4298	6501	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52442567G>A	Exception_encountered	Somatic		WXS	SOLID	Phase_I	K4DI82	Nonsense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	G	40	8.229026	0.98717	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.641	14.1141	0.65142	0.0:0.0:0.8497:0.1503	.	.	.	.	X	60	.	ENSP00000296288:R60X	R	-	1	2	BAP1	52417607	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.897000	0.69831	2.550000	0.86006	0.655000	0.94253	CGA		0.502	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		NM_016483	
C10orf99	387695	hgsc.bcm.edu	37	10	85944492	85944492	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr10:85944492G>T	ENST00000372126.3	+	3	330	c.216G>T	c.(214-216)tgG>tgT	p.W72C	C10orf99_ENST00000472542.1_Intron	NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	72						extracellular region (GO:0005576)				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						CCCGCCTTTGGGTGGTGCCTG	0.577																																																	0													76.0	70.0	72.0					10																	85944492		2203	4300	6503	SO:0001583	missense	387695			AY358751	CCDS7371.1	10q23.2	2014-04-16			ENSG00000188373	ENSG00000188373			31428	protein-coding gene	gene with protein product						12975309	Standard	NM_207373		Approved	UNQ1833, RLLV1833, FLJ21763	uc001kcu.3	Q6UWK7	OTTHUMG00000018635	ENST00000372126.3:c.216G>T	10.37:g.85944492G>T	ENSP00000361199:p.Trp72Cys	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000372126.3	37	CCDS7371.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731794	0.30684	.	.	ENSG00000188373	ENST00000372126	.	.	.	3.83	3.83	0.44106	.	0.000000	0.31922	U	0.006858	T	0.77096	0.4080	.	.	.	0.51767	D	0.999935	D	0.89917	1.0	D	0.87578	0.998	T	0.79720	-0.1685	8	0.87932	D	0	.	11.5422	0.50673	0.0:0.0:1.0:0.0	.	72	Q6UWK7	CJ099_HUMAN	C	72	.	ENSP00000361199:W72C	W	+	3	0	C10orf99	85934472	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	3.641000	0.54360	2.432000	0.82394	0.585000	0.79938	TGG		0.577	C10orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049114.1		NM_207373	
ACSM6	142827	hgsc.bcm.edu;ucsc.edu	37	10	96971678	96971678	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr10:96971678G>A	ENST00000394005.3	+	5	808	c.799G>A	c.(799-801)Ggt>Agt	p.G267S	C10orf129_ENST00000430183.1_Missense_Mutation_p.G112S|C10orf129_ENST00000341686.3_Missense_Mutation_p.G267S			Q6P461	ACSM6_HUMAN		267					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GTGGAGTCTGGGTGATGCCTT	0.493																																																	0													174.0	150.0	158.0					10																	96971678		2203	4300	6503	SO:0001583	missense	142827																														ENST00000394005.3:c.799G>A	10.37:g.96971678G>A	ENSP00000377573:p.Gly267Ser	Somatic		WXS	SOLID	Phase_I	A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	ENST00000394005.3	37	CCDS7440.2	.	.	.	.	.	.	.	.	.	.	G	3.006	-0.204883	0.06180	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000430183;ENST00000394005	T;T;T	0.37915	1.17;1.17;1.17	1.84	0.806	0.18708	AMP-dependent synthetase/ligase (1);	.	.	.	.	T	0.09113	0.0225	N	0.00771	-1.2	0.20821	N	0.999843	B	0.20988	0.05	B	0.18871	0.023	T	0.35351	-0.9792	9	0.02654	T	1	.	6.5165	0.22250	0.0:0.0:0.4954:0.5046	.	267	Q6P461	ACSM6_HUMAN	S	293;267;112;267	ENSP00000340296:G267S;ENSP00000400368:G112S;ENSP00000377573:G267S	ENSP00000340296:G267S	G	+	1	0	C10orf129	96961668	0.211000	0.23529	0.054000	0.19295	0.728000	0.41692	0.355000	0.20163	0.068000	0.16574	0.454000	0.30748	GGT		0.493	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049506.2			
CCDC148	130940	hgsc.bcm.edu;ucsc.edu	37	2	159033038	159033038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr2:159033038G>A	ENST00000283233.5	-	13	1937	c.1624C>T	c.(1624-1626)Cag>Tag	p.Q542*	CCDC148_ENST00000409187.1_Nonsense_Mutation_p.Q551*|CCDC148-AS1_ENST00000412781.2_RNA	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	542										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATTACCTGCTGTTCATTGTAT	0.348																																																	0													118.0	106.0	110.0					2																	159033038		2203	4300	6503	SO:0001587	stop_gained	130940				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1624C>T	2.37:g.159033038G>A	ENSP00000283233:p.Gln542*	Somatic		WXS	SOLID	Phase_I	F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Nonsense_Mutation	SNP	ENST00000283233.5	37	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	G	38	7.158660	0.98103	.	.	ENSG00000153237	ENST00000283233;ENST00000409187	.	.	.	5.82	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-2.316	5.319	0.15872	0.0725:0.1229:0.5522:0.2524	.	.	.	.	X	542;551	.	ENSP00000283233:Q542X	Q	-	1	0	CCDC148	158741284	0.989000	0.36119	1.000000	0.80357	0.990000	0.78478	0.143000	0.16115	0.784000	0.33661	0.555000	0.69702	CAG		0.348	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1		NM_138803	
CHRFAM7A	89832	hgsc.bcm.edu	37	15	30665281	30665282	+	Frame_Shift_Del	DEL	CA	CA	-	rs200872014|rs201490160	byFrequency	TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr15:30665281_30665282delCA	ENST00000299847.2	-	6	680_681	c.227_228delTG	c.(226-228)ctgfs	p.L76fs	CHRFAM7A_ENST00000401522.3_5'UTR|CHRFAM7A_ENST00000567722.1_5'Flank|CHRFAM7A_ENST00000397827.3_5'UTR	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	76						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		ACCCAAACTTCAGTTTGCAGTG	0.505														1938	0.386981	0.0817	0.4409	5008	,	,		21827	0.6647		0.3777	False		,,,				2504	0.4847																0			GRCh37	CD025514	CHRFAM7A	D			,	570,2490		43,484,1003					,	2.1	1.0			64	2874,4020		317,2240,890	no	utr-5,frameshift	CHRFAM7A	NM_148911.1,NM_139320.1	,	360,2724,1893	A1A1,A1R,RR		41.6884,18.6275,34.5992	,	,		3444,6510				SO:0001589	frameshift_variant	89832			AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.227_228delTG	15.37:g.30665281_30665282delCA	ENSP00000299847:p.Leu76fs	Somatic		WXS	SOLID	Phase_I	A8KAB9	Frame_Shift_Del	DEL	ENST00000299847.2	37	CCDS32184.1																																																																																				0.505	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1		NM_148911	
CLSPN	63967	hgsc.bcm.edu;ucsc.edu	37	1	36205125	36205125	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr1:36205125A>T	ENST00000318121.3	-	19	3206	c.3149T>A	c.(3148-3150)tTg>tAg	p.L1050*	CLSPN_ENST00000251195.5_Nonsense_Mutation_p.L1050*|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000373220.3_Nonsense_Mutation_p.L986*|CLSPN_ENST00000466308.1_5'Flank|CLSPN_ENST00000520551.1_Nonsense_Mutation_p.L997*	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1050					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTATTTCCTCAACCTCCTAGA	0.393																																																	0													168.0	158.0	161.0					1																	36205125		2203	4300	6503	SO:0001587	stop_gained	63967			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3149T>A	1.37:g.36205125A>T	ENSP00000312995:p.Leu1050*	Somatic		WXS	SOLID	Phase_I	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Nonsense_Mutation	SNP	ENST00000318121.3	37	CCDS396.1	.	.	.	.	.	.	.	.	.	.	A	41	8.605503	0.98881	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	.	.	.	5.6	5.6	0.85130	.	0.282966	0.30714	N	0.009032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6971	16.1578	0.81677	1.0:0.0:0.0:0.0	.	.	.	.	X	1050;1050;986;997	.	ENSP00000251195:L1050X	L	-	2	0	CLSPN	35977712	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	6.695000	0.74593	2.281000	0.76405	0.529000	0.55759	TTG		0.393	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1		NM_022111	
CNOT1	23019	hgsc.bcm.edu;ucsc.edu	37	16	58579383	58579385	+	In_Frame_Del	DEL	GTA	GTA	-	rs141705349		TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	GTA	GTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr16:58579383_58579385delGTA	ENST00000317147.5	-	30	4349_4351	c.4017_4019delTAC	c.(4015-4020)actaca>aca	p.1339_1340TT>T	CNOT1_ENST00000569240.1_In_Frame_Del_p.1334_1335TT>T|CNOT1_ENST00000441024.2_In_Frame_Del_p.1339_1340TT>T|CNOT1_ENST00000245138.4_In_Frame_Del_p.190_191TT>T	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1339	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.|Thr-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGTAGCTGGTGTAGTAGAAGTTG	0.389																																																	0																																										SO:0001651	inframe_deletion	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4017_4019delTAC	16.37:g.58579386_58579388delGTA	ENSP00000320949:p.Thr1340del	Somatic		WXS	SOLID	Phase_I	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	In_Frame_Del	DEL	ENST00000317147.5	37	CCDS10799.1																																																																																				0.389	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3		NM_016284	
COL6A1	1291	hgsc.bcm.edu;ucsc.edu	37	21	47420243	47420243	+	Splice_Site	SNP	A	A	C			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr21:47420243A>C	ENST00000361866.3	+	28	1890		c.e28-1			NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CTCCCTCCCCAGGAATGCGAG	0.617																																																	0													84.0	78.0	80.0					21																	47420243		2203	4300	6503	SO:0001630	splice_region_variant	1291			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1777-1A>C	21.37:g.47420243A>C		Somatic		WXS	SOLID	Phase_I	O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Splice_Site	SNP	ENST00000361866.3	37	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.681778	0.68042	.	.	ENSG00000142156	ENST00000361866	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4651	0.67477	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL6A1	46244671	1.000000	0.71417	0.885000	0.34714	0.830000	0.47004	6.047000	0.71038	1.897000	0.54924	0.467000	0.42956	.		0.617	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1		NM_001848	Intron
COL6A6	131873	hgsc.bcm.edu;ucsc.edu	37	3	130300711	130300711	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr3:130300711G>T	ENST00000358511.6	+	8	3885	c.3854G>T	c.(3853-3855)tGg>tTg	p.W1285L	COL6A6_ENST00000453409.2_Missense_Mutation_p.W1285L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1285	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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						GATTCTCTATGGGATACATTT	0.348																																																	0													163.0	157.0	159.0					3																	130300711		1858	4081	5939	SO:0001583	missense	131873			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.3854G>T	3.37:g.130300711G>T	ENSP00000351310:p.Trp1285Leu	Somatic		WXS	SOLID	Phase_I	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.34|15.34	2.803389|2.803389	0.50315|0.50315	.|.	.|.	ENSG00000206384|ENSG00000206384	ENST00000511332|ENST00000358511;ENST00000453409	.|T;T	.|0.32753	.|1.44;1.44	6.06|6.06	6.06|6.06	0.98353|0.98353	.|von Willebrand factor, type A (2);	.|.	.|.	.|.	.|.	T|T	0.55114|0.55114	0.1900|0.1900	M|M	0.65498|0.65498	2.005|2.005	0.41980|0.41980	D|D	0.990797|0.990797	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.37244|0.37244	-0.9714|-0.9714	5|9	.|0.23891	.|T	.|0.37	.|.	19.3923|19.3923	0.94587|0.94587	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1285	.|A6NMZ7	.|CO6A6_HUMAN	W|L	43|1285	.|ENSP00000351310:W1285L;ENSP00000399236:W1285L	.|ENSP00000351310:W1285L	G|W	+|+	1|2	0|0	COL6A6|COL6A6	131783401|131783401	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.028000|0.028000	0.11728|0.11728	6.472000|6.472000	0.73567|0.73567	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.348	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608	
CXXC4	80319	hgsc.bcm.edu;ucsc.edu	37	4	105393489	105393489	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr4:105393489C>T	ENST00000426831.1	-	2	601	c.587G>A	c.(586-588)tGg>tAg	p.W196*	CXXC4_ENST00000466963.1_5'UTR|CXXC4_ENST00000394767.2_Nonsense_Mutation_p.W365*			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	196					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TTAAAAGAACCATCGGAATGC	0.343																																																	0													105.0	110.0	108.0					4																	105393489		2203	4299	6502	SO:0001587	stop_gained	80319				CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.587G>A	4.37:g.105393489C>T	ENSP00000412267:p.Trp196*	Somatic		WXS	SOLID	Phase_I		Nonsense_Mutation	SNP	ENST00000426831.1	37		.	.	.	.	.	.	.	.	.	.	C	18.41	3.617488	0.66787	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	.	.	.	5.36	5.36	0.76844	.	0.335931	0.28908	N	0.013750	.	.	.	.	.	.	0.32550	N	0.532525	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2917	19.0851	0.93200	0.0:1.0:0.0:0.0	.	.	.	.	X	196	.	ENSP00000378248:W196X	W	-	2	0	CXXC4	105612938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.359000	0.66074	2.508000	0.84585	0.655000	0.94253	TGG		0.343	CXXC4-201	KNOWN	basic	protein_coding	protein_coding			NM_025212	
DST	667	hgsc.bcm.edu;ucsc.edu	37	6	56341042	56341042	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr6:56341042A>G	ENST00000361203.3	-	87	20816	c.20809T>C	c.(20809-20811)Tgg>Cgg	p.W6937R	DST_ENST00000370754.5_Missense_Mutation_p.W7226R|DST_ENST00000370788.2_Missense_Mutation_p.W4851R|DST_ENST00000421834.2_Missense_Mutation_p.W4960R|DST_ENST00000370769.4_Missense_Mutation_p.W7048R|DST_ENST00000446842.2_Missense_Mutation_p.W6722R|DST_ENST00000244364.6_Missense_Mutation_p.W4634R|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6937					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATTGCAACCAAGCCAGCAAA	0.483																																																	0													58.0	57.0	57.0					6																	56341042		1929	4123	6052	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20809T>C	6.37:g.56341042A>G	ENSP00000354508:p.Trp6937Arg	Somatic		WXS	SOLID	Phase_I	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	A	19.44	3.828894	0.71258	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.70045	-0.45;0.11;0.11;-0.45;0.11;0.11;0.11	5.74	5.74	0.90152	.	0.000000	0.51477	D	0.000087	T	0.82231	0.4992	M	0.88979	2.995	0.33968	D	0.646504	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.998;0.999	D	0.85779	0.1360	9	0.72032	D	0.01	.	16.3426	0.83092	1.0:0.0:0.0:0.0	.	4960;7048;7226;7046;4634	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	R	4634;7226;7048;4960;6722;4851;6937	ENSP00000244364:W4634R;ENSP00000359790:W7226R;ENSP00000359805:W7048R;ENSP00000400883:W4960R;ENSP00000393645:W6722R;ENSP00000359824:W4851R;ENSP00000354508:W6937R	ENSP00000244364:W4634R	W	-	1	0	DST	56449001	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	TGG		0.483	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723	
PIEZO1	9780	hgsc.bcm.edu	37	16	88787608	88787610	+	In_Frame_Del	DEL	CTT	CTT	-	rs3217718|rs150376294|rs113773794	byFrequency	TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr16:88787608_88787610delCTT	ENST00000301015.9	-	39	5878_5880	c.5632_5634delAAG	c.(5632-5634)aagdel	p.K1878del	PIEZO1_ENST00000327397.7_5'Flank|RP5-1142A6.9_ENST00000564984.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	1878					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.K1878delK(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						CTGGGCCCTCCTTCTTCCTTCTT	0.616														1081	0.215855	0.1452	0.2003	5008	,	,		19820	0.0774		0.334	False		,,,				2504	0.3436																1	Deletion - In frame(1)	breast(1)								433,2117		88,257,930						3.8	0.1		dbSNP_131	32	1667,3279		392,883,1198	no	coding	PIEZO1	NM_001142864.2		480,1140,2128	A1A1,A1R,RR		33.704,16.9804,28.0149				2100,5396				SO:0001651	inframe_deletion	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.5632_5634delAAG	16.37:g.88787611_88787613delCTT	ENSP00000301015:p.Lys1878del	Somatic		WXS	SOLID	Phase_I	A6NHT9|A7E2B7|Q0KKZ9	In_Frame_Del	DEL	ENST00000301015.9	37	CCDS54058.1																																																																																				0.616	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4		NM_014745	
FAM46D	169966	hgsc.bcm.edu;ucsc.edu	37	X	79698230	79698230	+	Silent	SNP	T	T	C			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chrX:79698230T>C	ENST00000308293.5	+	3	431	c.192T>C	c.(190-192)aaT>aaC	p.N64N	FAM46D_ENST00000538312.1_Silent_p.N64N	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	64										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						CCAGATTGAATGGTTCCGTAG	0.393																																																	0													132.0	115.0	121.0					X																	79698230		2203	4300	6503	SO:0001819	synonymous_variant	169966			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.192T>C	X.37:g.79698230T>C		Somatic		WXS	SOLID	Phase_I	B2R9Q6|Q7Z3F6|Q8NHU1	Silent	SNP	ENST00000308293.5	37	CCDS14446.1																																																																																				0.393	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1		NM_152630	
GRIK2	2898	hgsc.bcm.edu;ucsc.edu	37	6	102266315	102266315	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr6:102266315C>A	ENST00000421544.1	+	9	1764	c.1274C>A	c.(1273-1275)aCa>aAa	p.T425K	GRIK2_ENST00000369134.4_Missense_Mutation_p.T376K|GRIK2_ENST00000318991.6_Missense_Mutation_p.T425K|GRIK2_ENST00000413795.1_Missense_Mutation_p.T425K|GRIK2_ENST00000369137.3_Missense_Mutation_p.T425K|GRIK2_ENST00000369138.1_Missense_Mutation_p.T425K	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	425					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GCGAACATCACAGATTCCTTA	0.363																																																	0													224.0	202.0	209.0					6																	102266315		2203	4300	6503	SO:0001583	missense	2898				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1274C>A	6.37:g.102266315C>A	ENSP00000397026:p.Thr425Lys	Somatic		WXS	SOLID	Phase_I	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269370	0.80469	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610;ENST00000436862	T;T;T;T;T;T;T;T	0.30182	2.78;2.73;2.68;2.95;2.73;2.78;1.54;3.6	5.59	5.59	0.84812	.	0.252880	0.39909	N	0.001231	T	0.51007	0.1649	M	0.89095	3.005	0.53688	D	0.999976	P;P;P	0.50156	0.932;0.758;0.932	P;P;P	0.55871	0.786;0.493;0.691	T	0.54853	-0.8231	10	0.42905	T	0.14	.	19.5777	0.95452	0.0:1.0:0.0:0.0	.	425;425;425	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	K	425;425;425;425;425;425;376;387;138;24	ENSP00000397026:T425K;ENSP00000405596:T425K;ENSP00000358134:T425K;ENSP00000358133:T425K;ENSP00000313276:T425K;ENSP00000358130:T376K;ENSP00000391988:T138K;ENSP00000407140:T24K	ENSP00000313276:T425K	T	+	2	0	GRIK2	102373008	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.487000	0.81328	2.636000	0.89361	0.643000	0.83706	ACA		0.363	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			
HSPA2	3306	hgsc.bcm.edu	37	14	65008972	65008972	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr14:65008972C>G	ENST00000394709.1	+	2	1481	c.1405C>G	c.(1405-1407)Cct>Gct	p.P469A	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Missense_Mutation_p.P469A			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	469					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)	p.P469S(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CGGGATTCCCCCTGCGCCTCG	0.587																																					Pancreas(136;1211 1835 24894 31984 38227)												1	Substitution - Missense(1)	skin(1)											55.0	57.0	56.0					14																	65008972		2203	4300	6503	SO:0001583	missense	3306			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1405C>G	14.37:g.65008972C>G	ENSP00000378199:p.Pro469Ala	Somatic		WXS	SOLID	Phase_I	Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565579	0.45694	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01422	4.91;4.91	5.13	5.13	0.70059	.	0.000000	0.53938	U	0.000045	T	0.08537	0.0212	M	0.87381	2.88	0.53688	D	0.999976	P	0.42692	0.787	P	0.52386	0.697	T	0.00395	-1.1766	10	0.87932	D	0	-17.66	18.6485	0.91421	0.0:1.0:0.0:0.0	.	469	P54652	HSP72_HUMAN	A	469;469;243	ENSP00000378199:P469A;ENSP00000247207:P469A	ENSP00000247207:P469A	P	+	1	0	HSPA2	64078725	1.000000	0.71417	0.997000	0.53966	0.188000	0.23474	7.815000	0.86186	2.399000	0.81585	0.558000	0.71614	CCT		0.587	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			
KCTD17	79734	hgsc.bcm.edu	37	22	37455447	37455447	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr22:37455447G>T	ENST00000403888.3	+	5	603	c.602G>T	c.(601-603)gGg>gTg	p.G201V	KCTD17_ENST00000402077.3_Missense_Mutation_p.G201V	NM_001282684.1	NP_001269613.1	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	201					protein homooligomerization (GO:0051260)		identical protein binding (GO:0042802)			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						ACCCCAAACGGGCTGAGCTCA	0.627																																																	0													78.0	77.0	78.0					22																	37455447		2203	4300	6503	SO:0001583	missense	79734			BC025403	CCDS13940.2, CCDS74854.1, CCDS74855.1	22q12.3	2013-06-20	2013-06-20		ENSG00000100379	ENSG00000100379			25705	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 17"""			12477932	Standard	XM_005261741		Approved	FLJ12242	uc011amv.2	Q8N5Z5	OTTHUMG00000150532	ENST00000403888.3:c.602G>T	22.37:g.37455447G>T	ENSP00000385096:p.Gly201Val	Somatic		WXS	SOLID	Phase_I	B0QYA9|B0QYB0|O95517	Missense_Mutation	SNP	ENST00000403888.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.13|18.13	3.556105|3.556105	0.65425|0.65425	.|.	.|.	ENSG00000100379|ENSG00000100379	ENST00000456470|ENST00000402077;ENST00000403888	T|T;T	0.78246|0.77877	-1.16|-1.13;-1.13	4.18|4.18	4.18|4.18	0.49190|0.49190	.|.	0.630262|0.630262	0.13732|0.13732	N|N	0.366618|0.366618	T|T	0.81559|0.81559	0.4848|0.4848	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;P;D;P	.|0.89917	.|0.999;0.851;1.0;0.918	.|D;B;D;P	.|0.80764	.|0.984;0.212;0.994;0.613	T|T	0.82748|0.82748	-0.0304|-0.0304	8|10	0.49607|0.87932	T|D	0.09|0	-16.0683|-16.0683	14.6827|14.6827	0.69028|0.69028	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|201;192;201;155	.|Q8N5Z5-2;E9PCZ8;Q8N5Z5;B0QYB1	.|.;.;KCD17_HUMAN;.	C|V	156|201	ENSP00000409638:G156C|ENSP00000384391:G201V;ENSP00000385096:G201V	ENSP00000409638:G156C|ENSP00000384391:G201V	G|G	+|+	1|2	0|0	KCTD17|KCTD17	35785393|35785393	1.000000|1.000000	0.71417|0.71417	0.822000|0.822000	0.32727|0.32727	0.336000|0.336000	0.28762|0.28762	6.367000|6.367000	0.73099|0.73099	1.887000|1.887000	0.54652|0.54652	0.462000|0.462000	0.41574|0.41574	GGC|GGG		0.627	KCTD17-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318781.1		NM_024681	
KHDRBS2	202559	hgsc.bcm.edu	37	6	62604617	62604617	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr6:62604617G>T	ENST00000281156.4	-	6	1011	c.733C>A	c.(733-735)Cct>Act	p.P245T		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	245	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.P245S(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CGGGCTCGAGGGGTAGGGACA	0.572																																																	1	Substitution - Missense(1)	skin(1)											57.0	57.0	57.0					6																	62604617		2203	4300	6503	SO:0001583	missense	202559			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.733C>A	6.37:g.62604617G>T	ENSP00000281156:p.Pro245Thr	Somatic		WXS	SOLID	Phase_I	A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420018	0.62622	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.46819	0.86	5.52	5.52	0.82312	.	0.107759	0.64402	D	0.000005	T	0.37128	0.0992	L	0.53249	1.67	0.52501	D	0.999955	B	0.19706	0.038	B	0.19391	0.025	T	0.25398	-1.0133	10	0.66056	D	0.02	-2.9037	19.7889	0.96450	0.0:0.0:1.0:0.0	.	245	Q5VWX1	KHDR2_HUMAN	T	245	ENSP00000281156:P245T	ENSP00000281156:P245T	P	-	1	0	KHDRBS2	62662576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.851000	0.69481	2.734000	0.93682	0.655000	0.94253	CCT		0.572	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2		NM_152688	
KIAA0368	23392	hgsc.bcm.edu;ucsc.edu	37	9	114182377	114182377	+	Silent	SNP	C	C	G			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr9:114182377C>G	ENST00000338205.5	-	15	1698	c.1479G>C	c.(1477-1479)gtG>gtC	p.V493V	KIAA0368_ENST00000259335.4_Silent_p.V671V			Q5VYK3	ECM29_HUMAN	KIAA0368	499					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATTTCACAGCCACTTGTCGAA	0.418																																																	0													99.0	97.0	98.0					9																	114182377		1889	4114	6003	SO:0001819	synonymous_variant	23392			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1479G>C	9.37:g.114182377C>G		Somatic		WXS	SOLID	Phase_I	O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37																																																																																					0.418	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2		NM_014686	
KLHL22	84861	hgsc.bcm.edu	37	22	20843449	20843449	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr22:20843449G>T	ENST00000328879.4	-	2	206	c.50C>A	c.(49-51)cCc>cAc	p.P17H	KLHL22_ENST00000470335.1_5'UTR|KLHL22_ENST00000440659.2_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	17					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGGGTGTGAGGGCTGTGCAGG	0.597																																																	0													147.0	118.0	128.0					22																	20843449		2203	4300	6503	SO:0001583	missense	84861				CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.50C>A	22.37:g.20843449G>T	ENSP00000331682:p.Pro17His	Somatic		WXS	SOLID	Phase_I	A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.154063	0.78114	.	.	ENSG00000099910	ENST00000328879;ENST00000444967;ENST00000458248;ENST00000443285;ENST00000431430;ENST00000423364	T;T;T;T;D	0.85171	-0.88;-0.57;-0.5;-0.53;-1.95	4.88	4.88	0.63580	.	0.332697	0.29178	N	0.012906	T	0.80204	0.4580	N	0.08118	0	0.80722	D	1	D	0.64830	0.994	P	0.53912	0.737	T	0.82228	-0.0561	10	0.38643	T	0.18	.	15.5226	0.75875	0.0:0.0:1.0:0.0	.	17	Q53GT1	KLH22_HUMAN	H	17;49;17;51;17;49	ENSP00000331682:P17H;ENSP00000403999:P49H;ENSP00000398616:P17H;ENSP00000397882:P51H;ENSP00000409092:P17H	ENSP00000331682:P17H	P	-	2	0	KLHL22	19173449	1.000000	0.71417	0.965000	0.40720	0.875000	0.50365	4.152000	0.58111	2.255000	0.74692	0.550000	0.68814	CCC		0.597	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2		NM_032775	
MFAP3L	9848	hgsc.bcm.edu;ucsc.edu	37	4	170926995	170926995	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr4:170926995A>T	ENST00000361618.3	-	2	341	c.34T>A	c.(34-36)Ttt>Att	p.F12I	MFAP3L_ENST00000506110.1_Missense_Mutation_p.F12I|MFAP3L_ENST00000393702.3_Missense_Mutation_p.F12I|MFAP3L_ENST00000393704.3_5'Flank	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GAAGGTAGAAAGCACACAGTC	0.453																																																	0													107.0	103.0	104.0					4																	170926995		2203	4300	6503	SO:0001583	missense	9848			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.34T>A	4.37:g.170926995A>T	ENSP00000354583:p.Phe12Ile	Somatic		WXS	SOLID	Phase_I	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.593360	0.28357	.	.	ENSG00000198948	ENST00000361618;ENST00000393702;ENST00000506110;ENST00000504999;ENST00000506764;ENST00000510306	D;D;D;D;D	0.87029	-1.81;-2.13;-2.13;-2.1;-2.2	5.77	4.56	0.56223	.	0.245514	0.40908	D	0.000987	D	0.84433	0.5471	M	0.64997	1.995	0.26561	N	0.973732	B	0.02656	0.0	B	0.04013	0.001	T	0.76767	-0.2838	10	0.59425	D	0.04	-2.5211	10.9643	0.47403	0.9286:0.0:0.0714:0.0	.	12	O75121	MFA3L_HUMAN	I	12	ENSP00000354583:F12I;ENSP00000377305:F12I;ENSP00000422571:F12I;ENSP00000425303:F12I;ENSP00000426247:F12I	ENSP00000354583:F12I	F	-	1	0	MFAP3L	171163570	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	3.275000	0.51639	1.093000	0.41377	0.533000	0.62120	TTT		0.453	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2		NM_021647	
MYH15	22989	hgsc.bcm.edu;ucsc.edu	37	3	108211422	108211422	+	Missense_Mutation	SNP	C	C	T	rs374694357		TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr3:108211422C>T	ENST00000273353.3	-	10	912	c.856G>A	c.(856-858)Gtg>Atg	p.V286M		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	286	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGGAAAATCACCCTGGACTTT	0.388																																																	0								C	MET/VAL	0,3636		0,0,1818	82.0	76.0	78.0		856	4.2	0.5	3		78	2,8170		0,2,4084	no	missense	MYH15	NM_014981.1	21	0,2,5902	TT,TC,CC		0.0245,0.0,0.0169	probably-damaging	286/1947	108211422	2,11806	1818	4086	5904	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.856G>A	3.37:g.108211422C>T	ENSP00000273353:p.Val286Met	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853379	0.71719	0.0	2.45E-4	ENSG00000144821	ENST00000273353	T	0.80566	-1.39	5.07	4.2	0.49525	Myosin head, motor domain (2);	.	.	.	.	D	0.94847	0.8335	H	0.99948	5.02	0.54753	D	0.99998	D	0.89917	1.0	D	0.97110	1.0	D	0.96045	0.9027	9	0.87932	D	0	.	13.0278	0.58825	0.0:0.9218:0.0:0.0782	.	286	Q9Y2K3	MYH15_HUMAN	M	286	ENSP00000273353:V286M	ENSP00000273353:V286M	V	-	1	0	MYH15	109694112	1.000000	0.71417	0.530000	0.27963	0.759000	0.43091	4.580000	0.60942	1.145000	0.42336	0.650000	0.86243	GTG		0.388	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1		XM_036988	
NBAS	51594	hgsc.bcm.edu;ucsc.edu	37	2	15326915	15326915	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr2:15326915A>T	ENST00000281513.5	-	50	6687	c.6662T>A	c.(6661-6663)tTg>tAg	p.L2221*	NBAS_ENST00000441750.1_Nonsense_Mutation_p.L2101*	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2221					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACACATTTTCAAAACTTCATT	0.433																																																	0													213.0	180.0	191.0					2																	15326915		2203	4300	6503	SO:0001587	stop_gained	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6662T>A	2.37:g.15326915A>T	ENSP00000281513:p.Leu2221*	Somatic		WXS	SOLID	Phase_I	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Nonsense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	47|47	13.226484|13.226484	0.99728|0.99728	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000433283;ENST00000423602|ENST00000442506	.|.	.|.	.|.	6.03|6.03	4.87|4.87	0.63330|0.63330	.|.	0.219020|.	0.39759|.	N|.	0.001266|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.87932|.	D|.	0|.	.|.	11.2435|11.2435	0.48982|0.48982	0.9281:0.0:0.0719:0.0|0.9281:0.0:0.0719:0.0	.|.	.|.	.|.	.|.	X|R	2101;2221;77;75|1269	.|.	ENSP00000281513:L2221X|.	L|X	-|-	2|1	0|0	NBAS|NBAS	15244366|15244366	1.000000|1.000000	0.71417|0.71417	0.169000|0.169000	0.22859|0.22859	0.734000|0.734000	0.41952|0.41952	6.795000|6.795000	0.75140|0.75140	1.092000|1.092000	0.41356|0.41356	0.533000|0.533000	0.62120|0.62120	TTG|TGA		0.433	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1		NM_015909	
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52702660	52702660	+	Splice_Site	SNP	T	T	A			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr3:52702660T>A	ENST00000296302.7	-	3	239	c.238A>T	c.(238-240)Aat>Tat	p.N80Y	PBRM1_ENST00000409057.1_Splice_Site_p.N80Y|PBRM1_ENST00000409767.1_Splice_Site_p.N80Y|PBRM1_ENST00000337303.4_Splice_Site_p.N80Y|PBRM1_ENST00000394830.3_Splice_Site_p.N80Y|PBRM1_ENST00000410007.1_Splice_Site_p.N80Y|PBRM1_ENST00000356770.4_Splice_Site_p.N80Y|PBRM1_ENST00000409114.3_Splice_Site_p.N80Y			Q86U86	PB1_HUMAN	polybromo 1	80	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTGGTTGATTTCTGttataa	0.289			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													42.0	40.0	41.0					3																	52702660		2202	4297	6499	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.237-1A>T	3.37:g.52702660T>A		Somatic		WXS	SOLID	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	23.1	4.375848	0.82682	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;2.17	5.26	5.26	0.73747	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	L	0.43598	1.365	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.995;0.999;0.998;0.998;0.98;0.999;0.997	T	0.47873	-0.9083	10	0.62326	D	0.03	-28.6389	15.4781	0.75501	0.0:0.0:0.0:1.0	.	80;80;80;80;80;80;80;80	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	Y	80;80;80;80;80;80;80;80;80;24;80;80;80;80	ENSP00000349213:N80Y;ENSP00000378307:N80Y;ENSP00000296302:N80Y;ENSP00000338302:N80Y;ENSP00000386593:N80Y;ENSP00000386529:N80Y;ENSP00000386643:N80Y;ENSP00000386601:N80Y;ENSP00000387775:N80Y;ENSP00000397662:N24Y;ENSP00000409939:N80Y;ENSP00000389390:N80Y;ENSP00000412401:N80Y;ENSP00000416851:N80Y	ENSP00000296302:N80Y	N	-	1	0	PBRM1	52677700	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.292000	0.78731	2.125000	0.65367	0.533000	0.62120	AAT		0.289	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	Missense_Mutation
PPP2R3A	5523	hgsc.bcm.edu;ucsc.edu	37	3	135745814	135745814	+	Silent	SNP	C	C	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr3:135745814C>T	ENST00000264977.3	+	3	2753	c.2136C>T	c.(2134-2136)ttC>ttT	p.F712F	PPP2R3A_ENST00000334546.2_Silent_p.F91F|PPP2R3A_ENST00000492624.2_5'UTR|PPP2R3A_ENST00000490467.1_5'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	712					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTCCACGGTTCTACTTTCCTG	0.458																																																	0													94.0	89.0	91.0					3																	135745814		2203	4300	6503	SO:0001819	synonymous_variant	5523			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2136C>T	3.37:g.135745814C>T		Somatic		WXS	SOLID	Phase_I	A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Silent	SNP	ENST00000264977.3	37	CCDS3087.1																																																																																				0.458	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1		NM_002718	
PRKD3	23683	hgsc.bcm.edu;ucsc.edu	37	2	37520414	37520414	+	Splice_Site	SNP	A	A	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr2:37520414A>T	ENST00000379066.1	-	3	1051	c.289T>A	c.(289-291)Ttt>Att	p.F97I	PRKD3_ENST00000234179.2_Splice_Site_p.F97I			O94806	KPCD3_HUMAN	protein kinase D3	97					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CACTCTGGAAACTGAGGGATA	0.328																																					Melanoma(80;621 1355 8613 11814 51767)												0													74.0	70.0	71.0					2																	37520414		2203	4300	6503	SO:0001630	splice_region_variant	23683			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.289-1T>A	2.37:g.37520414A>T		Somatic		WXS	SOLID	Phase_I	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236663	0.58886	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.64991	-0.13;-0.13	5.23	4.08	0.47627	.	0.057157	0.64402	D	0.000001	T	0.52240	0.1722	L	0.39020	1.185	0.80722	D	1	B;B	0.31077	0.307;0.008	B;B	0.35510	0.204;0.009	T	0.46484	-0.9188	10	0.33141	T	0.24	-17.2281	10.8446	0.46737	0.9259:0.0:0.0741:0.0	.	97;97	O94806-2;O94806	.;KPCD3_HUMAN	I	97	ENSP00000368356:F97I;ENSP00000234179:F97I	ENSP00000234179:F97I	F	-	1	0	PRKD3	37373918	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.481000	0.81124	0.941000	0.37499	0.533000	0.62120	TTT		0.328	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3		NM_005813	Missense_Mutation
PTCH1	5727	hgsc.bcm.edu	37	9	98231217	98231217	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr9:98231217G>T	ENST00000331920.6	-	14	2365	c.2066C>A	c.(2065-2067)cCc>cAc	p.P689H	PTCH1_ENST00000418258.1_Missense_Mutation_p.P538H|PTCH1_ENST00000375274.2_Missense_Mutation_p.P688H|PTCH1_ENST00000430669.2_Missense_Mutation_p.P623H|PTCH1_ENST00000437951.1_Missense_Mutation_p.P623H|PTCH1_ENST00000421141.1_Missense_Mutation_p.P538H|PTCH1_ENST00000429896.2_Missense_Mutation_p.P538H	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	689					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.P689L(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CACGGTGACGGGCTGCACAGA	0.632																																																	2	Substitution - Missense(2)	skin(2)											123.0	116.0	119.0					9																	98231217		2203	4300	6503	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2066C>A	9.37:g.98231217G>T	ENSP00000332353:p.Pro689His	Somatic		WXS	SOLID	Phase_I	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782729	0.90282	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90955	-2.75;-2.74;-2.73;-2.73;-2.74;-2.73;-2.76	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.93552	0.7942	M	0.74881	2.28	0.80722	D	1	D;D;D;B	0.59357	0.985;0.975;0.964;0.237	P;P;P;B	0.55161	0.77;0.694;0.688;0.122	D	0.93150	0.6549	10	0.41790	T	0.15	-20.4818	18.1325	0.89606	0.0:0.0:1.0:0.0	.	538;623;688;689	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	H	689;623;538;538;125;623;538;688	ENSP00000332353:P689H;ENSP00000389744:P623H;ENSP00000399981:P538H;ENSP00000396135:P538H;ENSP00000410287:P623H;ENSP00000414823:P538H;ENSP00000364423:P688H	ENSP00000332353:P689H	P	-	2	0	PTCH1	97271038	1.000000	0.71417	0.964000	0.40570	0.942000	0.58702	9.308000	0.96247	2.505000	0.84491	0.557000	0.71058	CCC		0.632	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2		NM_000264	
RGS18	64407	hgsc.bcm.edu	37	1	192150459	192150459	+	Silent	SNP	A	A	G			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr1:192150459A>G	ENST00000367460.3	+	4	502	c.321A>G	c.(319-321)gaA>gaG	p.E107E		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	107	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTAAAACTGAATTCAGTGAAG	0.294																																																	0													37.0	41.0	40.0					1																	192150459		2177	4286	6463	SO:0001819	synonymous_variant	64407			AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.321A>G	1.37:g.192150459A>G		Somatic		WXS	SOLID	Phase_I	B2RD23	Silent	SNP	ENST00000367460.3	37	CCDS1374.1																																																																																				0.294	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1		NM_130782	
SCN3A	6328	hgsc.bcm.edu;ucsc.edu	37	2	165953810	165953810	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr2:165953810T>A	ENST00000360093.3	-	23	4682	c.4191A>T	c.(4189-4191)aaA>aaT	p.K1397N	SCN3A_ENST00000409101.3_Missense_Mutation_p.K1348N|SCN3A_ENST00000283254.7_Missense_Mutation_p.K1397N	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1397					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAAAGTTTACTTTCACGTTTT	0.403																																																	0													110.0	94.0	99.0					2																	165953810		2203	4300	6503	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4191A>T	2.37:g.165953810T>A	ENSP00000353206:p.Lys1397Asn	Somatic		WXS	SOLID	Phase_I	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	T	22.3	4.267547	0.80469	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98280	-4.28;-4.28;-4.28;-4.84	5.72	4.57	0.56435	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.97898	0.9309	L	0.37750	1.13	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.997;0.996;0.996;0.999	D	0.98294	1.0515	10	0.87932	D	0	.	11.6798	0.51451	0.0:0.069:0.0:0.931	.	1397;1348;1348;1348;1397	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	N	1397;1397;1348;1348	ENSP00000353206:K1397N;ENSP00000283254:K1397N;ENSP00000386726:K1348N;ENSP00000403348:K1348N	ENSP00000283254:K1397N	K	-	3	2	SCN3A	165662056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.982000	0.40638	1.112000	0.41740	0.533000	0.62120	AAA		0.403	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_006922	
SERPINA11	256394	hgsc.bcm.edu;ucsc.edu	37	14	94914808	94914808	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr14:94914808C>A	ENST00000334708.3	-	2	368	c.304G>T	c.(304-306)Ggc>Tgc	p.G102C	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	102					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AATCCCAGGCCCTCCAGGATC	0.617																																																	0													79.0	82.0	81.0					14																	94914808		2203	4300	6503	SO:0001583	missense	256394			BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.304G>T	14.37:g.94914808C>A	ENSP00000335024:p.Gly102Cys	Somatic		WXS	SOLID	Phase_I	B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377701	0.61735	.	.	ENSG00000186910	ENST00000334708	D	0.84516	-1.86	4.85	3.95	0.45737	Serpin domain (3);	0.088684	0.47455	D	0.000226	D	0.92655	0.7666	M	0.88570	2.965	0.36116	D	0.845145	D	0.89917	1.0	D	0.91635	0.999	D	0.95043	0.8180	10	0.59425	D	0.04	.	12.3063	0.54904	0.0:0.9172:0.0:0.0828	.	102	Q86U17	SPA11_HUMAN	C	102	ENSP00000335024:G102C	ENSP00000335024:G102C	G	-	1	0	SERPINA11	93984561	0.996000	0.38824	0.963000	0.40424	0.888000	0.51559	2.589000	0.46145	1.236000	0.43740	0.655000	0.94253	GGC		0.617	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1		NM_001080451	
SPOCK3	50859	hgsc.bcm.edu;ucsc.edu	37	4	167656201	167656201	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr4:167656201A>T	ENST00000357154.3	-	12	1319	c.1182T>A	c.(1180-1182)gaT>gaA	p.D394E	SPOCK3_ENST00000511269.1_Missense_Mutation_p.D391E|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D274E|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D351E|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D296E|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D394E|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D391E|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D343E|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D391E|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D298E|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D394E|SPOCK3_ENST00000535728.1_Missense_Mutation_p.D262E|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D394E|SPOCK3_ENST00000541637.1_Missense_Mutation_p.D296E	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	394	Asp-rich.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		attcatgaaaatcgccactag	0.343																																																	0													146.0	138.0	141.0					4																	167656201		2203	4300	6503	SO:0001583	missense	50859			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1182T>A	4.37:g.167656201A>T	ENSP00000349677:p.Asp394Glu	Somatic		WXS	SOLID	Phase_I	B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.572409	0.45798	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	1.55;1.53;1.53;1.55;1.55;1.55;1.57;1.46;0.98;1.53;1.56;1.34;0.98;1.23	5.14	-2.99	0.05497	.	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	M	0.61703	1.905	0.49687	D	0.99981	D;D;D;D;D;D;D	0.89917	0.994;1.0;1.0;0.994;0.994;0.996;0.994	D;D;D;D;D;D;D	0.87578	0.978;0.998;0.996;0.978;0.978;0.99;0.978	T	0.51687	-0.8674	10	0.34782	T	0.22	-12.3794	11.5663	0.50807	0.5937:0.0:0.4063:0.0	.	296;298;343;403;351;391;394	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	E	394;391;391;394;394;394;351;274;296;391;262;343;296;298	ENSP00000349677:D394E;ENSP00000350153:D391E;ENSP00000425570:D391E;ENSP00000420920:D394E;ENSP00000423421:D394E;ENSP00000423606:D394E;ENSP00000426716:D351E;ENSP00000444789:D274E;ENSP00000426318:D296E;ENSP00000425502:D391E;ENSP00000441396:D262E;ENSP00000411344:D343E;ENSP00000445430:D296E;ENSP00000438142:D298E	ENSP00000349677:D394E	D	-	3	2	SPOCK3	167892776	1.000000	0.71417	0.912000	0.35992	0.271000	0.26615	0.873000	0.28052	-0.412000	0.07519	0.519000	0.50382	GAT		0.343	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			
STMN3	50861	hgsc.bcm.edu;ucsc.edu	37	20	62275589	62275589	+	Silent	SNP	G	G	A			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr20:62275589G>A	ENST00000370053.1	-	2	174	c.93C>T	c.(91-93)ccC>ccT	p.P31P	STMN3_ENST00000540534.1_Silent_p.P20P	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	31					cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			AGACGGTATTGGGGTGCGGCT	0.632																																																	0													151.0	120.0	131.0					20																	62275589		2203	4300	6503	SO:0001819	synonymous_variant	50861			AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.93C>T	20.37:g.62275589G>A		Somatic		WXS	SOLID	Phase_I	B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Silent	SNP	ENST00000370053.1	37	CCDS13529.1																																																																																				0.632	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1		NM_015894	
TAS1R2	80834	hgsc.bcm.edu	37	1	19181061	19181061	+	Silent	SNP	G	G	A	rs374543771		TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr1:19181061G>A	ENST00000375371.3	-	3	924	c.903C>T	c.(901-903)tcC>tcT	p.S301S	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	301					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.S301S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCCAGGACTCGGAGGCGATCC	0.652																																																	1	Substitution - coding silent(1)	central_nervous_system(1)						G		1,4405	2.1+/-5.4	0,1,2202	56.0	54.0	55.0		903	-2.1	1.0	1		55	0,8600		0,0,4300	no	coding-synonymous	TAS1R2	NM_152232.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		301/840	19181061	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.903C>T	1.37:g.19181061G>A		Somatic		WXS	SOLID	Phase_I	Q5TZ19	Silent	SNP	ENST00000375371.3	37	CCDS187.1																																																																																				0.652	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			
TMEM109	79073	hgsc.bcm.edu	37	11	60689310	60689310	+	Silent	SNP	A	A	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr11:60689310A>T	ENST00000227525.3	+	4	808	c.405A>T	c.(403-405)ggA>ggT	p.G135G	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Silent_p.G135G|TMEM132A_ENST00000005286.4_5'Flank|TMEM132A_ENST00000453848.2_5'Flank	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	135					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						TGCTGTGGGGAGCAGGGGCCC	0.627																																																	0													106.0	110.0	108.0					11																	60689310		2203	4299	6502	SO:0001819	synonymous_variant	79073				CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.405A>T	11.37:g.60689310A>T		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000227525.3	37	CCDS7996.1																																																																																				0.627	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1		NM_024092	
TTI1	9675	hgsc.bcm.edu;ucsc.edu	37	20	36631058	36631058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr20:36631058G>T	ENST00000373448.2	-	5	2862	c.2624C>A	c.(2623-2625)tCa>tAa	p.S875*	TTI1_ENST00000449821.1_Nonsense_Mutation_p.S875*|TTI1_ENST00000373447.3_Nonsense_Mutation_p.S875*	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	875					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ATTTTTATCTGACAACAAGTG	0.522																																																	0													156.0	132.0	140.0					20																	36631058		2203	4300	6503	SO:0001587	stop_gained	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2624C>A	20.37:g.36631058G>T	ENSP00000362547:p.Ser875*	Somatic		WXS	SOLID	Phase_I	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Nonsense_Mutation	SNP	ENST00000373448.2	37	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	41	9.144620	0.99080	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	.	.	.	5.58	5.58	0.84498	.	0.115090	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.123	18.5691	0.91128	0.0:0.0:1.0:0.0	.	.	.	.	X	875	.	ENSP00000362546:S875X	S	-	2	0	TTI1	36064472	1.000000	0.71417	0.983000	0.44433	0.980000	0.70556	8.712000	0.91403	2.632000	0.89209	0.650000	0.86243	TCA		0.522	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2		NM_014657	
WFIKKN2	124857	hgsc.bcm.edu;ucsc.edu	37	17	48917427	48917427	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr17:48917427G>T	ENST00000311378.4	+	2	1306	c.778G>T	c.(778-780)Gtg>Ttg	p.V260L	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.V167L|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	260	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCCCAACCATGTGCGTGGCAA	0.612																																																	0													113.0	100.0	104.0					17																	48917427		2203	4300	6503	SO:0001583	missense	124857			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.778G>T	17.37:g.48917427G>T	ENSP00000311184:p.Val260Leu	Somatic		WXS	SOLID	Phase_I	Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801920	0.70682	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	T;T	0.66995	-0.24;-0.24	5.44	5.44	0.79542	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.060523	0.64402	D	0.000003	T	0.47600	0.1454	N	0.02368	-0.58	0.52099	D	0.999944	P	0.34815	0.47	B	0.37267	0.245	T	0.56553	-0.7960	10	0.45353	T	0.12	.	19.2584	0.93957	0.0:0.0:1.0:0.0	.	260	Q8TEU8	WFKN2_HUMAN	L	167;260	ENSP00000405889:V167L;ENSP00000311184:V260L	ENSP00000311184:V260L	V	+	1	0	WFIKKN2	46272426	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.793000	0.75130	2.533000	0.85409	0.651000	0.88453	GTG		0.612	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1		NM_175575	
ZC3H15	55854	hgsc.bcm.edu;ucsc.edu	37	2	187370523	187370523	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr2:187370523G>T	ENST00000337859.6	+	8	1148	c.921G>T	c.(919-921)gaG>gaT	p.E307D	ZC3H15_ENST00000544130.1_Missense_Mutation_p.E102D	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	307					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			ATGATGATGAGGAAGCAGATG	0.403																																																	0													122.0	119.0	120.0					2																	187370523		2012	4175	6187	SO:0001583	missense	55854				CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.921G>T	2.37:g.187370523G>T	ENSP00000338788:p.Glu307Asp	Somatic		WXS	SOLID	Phase_I	B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897720	0.33535	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.30182	1.54	6.17	-1.82	0.07857	.	0.135091	0.64402	D	0.000003	T	0.15609	0.0376	N	0.25144	0.715	0.48511	D	0.999669	B	0.06786	0.001	B	0.06405	0.002	T	0.24476	-1.0159	10	0.10377	T	0.69	-11.3147	11.5006	0.50435	0.7367:0.0:0.2633:0.0	.	307	Q8WU90	ZC3HF_HUMAN	D	307;102;307	ENSP00000338788:E307D	ENSP00000338788:E307D	E	+	3	2	ZC3H15	187078768	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	0.842000	0.27627	-0.219000	0.10003	0.655000	0.94253	GAG		0.403	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2		NM_018471	
ZDHHC5	25921	hgsc.bcm.edu;ucsc.edu	37	11	57440565	57440565	+	Start_Codon_SNP	SNP	G	G	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr11:57440565G>T	ENST00000287169.3	+	2	1365	c.3G>T	c.(1-3)atG>atT	p.M1I	ZDHHC5_ENST00000527985.1_Intron	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	1					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCTCCAACATGCCCGCAGAGT	0.547																																																	0													95.0	85.0	88.0					11																	57440565		2201	4296	6497	SO:0001582	initiator_codon_variant	25921			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.3G>T	11.37:g.57440565G>T	ENSP00000287169:p.Met1Ile	Somatic		WXS	SOLID	Phase_I	Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827370	0.71143	.	.	ENSG00000156599	ENST00000287169	T	0.44482	0.92	6.03	6.03	0.97812	.	0.267218	0.45361	D	0.000372	T	0.61726	0.2370	.	.	.	0.80722	D	1	D	0.65815	0.995	P	0.56278	0.795	T	0.62840	-0.6769	9	0.87932	D	0	-9.1584	20.1703	0.98158	0.0:0.0:1.0:0.0	.	1	Q9C0B5	ZDHC5_HUMAN	I	1	ENSP00000287169:M1I	ENSP00000287169:M1I	M	+	3	0	ZDHHC5	57197141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.538000	0.90634	2.868000	0.98415	0.557000	0.71058	ATG		0.547	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1		NM_015457	Missense_Mutation
ZNF836	162962	hgsc.bcm.edu;ucsc.edu	37	19	52659379	52659379	+	Silent	SNP	A	A	T			TCGA-BP-4337-01A-01D-1366-10	TCGA-BP-4337-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8f948d-0bb3-4150-9a77-0ec972993a93	06efe36c-7a15-4074-abfe-c915db67fce6	g.chr19:52659379A>T	ENST00000322146.8	-	5	2078	c.1557T>A	c.(1555-1557)atT>atA	p.I519I	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.I519I	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTCTGGTATGAATTATCTTAT	0.393																																																	0													83.0	93.0	90.0					19																	52659379		2164	4282	6446	SO:0001819	synonymous_variant	162962			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1557T>A	19.37:g.52659379A>T		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000322146.8	37	CCDS46162.1																																																																																				0.393	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1		NM_001102657	
