#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FLG2	388698	broad.mit.edu	37	1	152323407	152323407	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:152323407C>A	ENST00000388718.5	-	3	6927	c.6855G>T	c.(6853-6855)caG>caT	p.Q2285H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2285					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGATCCTGGCTGTCTTTGTT	0.507																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6853-6855)caG>caT		filaggrin family member 2							283.0	258.0	266.0					1																	152323407		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323407C>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6855G>T	1.37:g.152323407C>A	ENSP00000373370:p.Gln2285His		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.Q2285H	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6927	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2285					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6855G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617175	0.46736	.	.	ENSG00000143520	ENST00000388718	T	0.03889	3.77	4.47	-2.71	0.05986	.	.	.	.	.	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	1	D	0.64830	0.994	D	0.67900	0.954	T	0.36040	-0.9764	9	0.27785	T	0.31	0.3931	3.1326	0.06429	0.3026:0.3219:0.0:0.3755	.	2285	Q5D862	FILA2_HUMAN	H	2285	ENSP00000373370:Q2285H	ENSP00000373370:Q2285H	Q	-	3	2	FLG2	150590031	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.952000	0.00677	-0.449000	0.07117	0.297000	0.19635	CAG		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		64	87	64	87	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152327428	152327428	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:152327428G>T	ENST00000388718.5	-	3	2906	c.2834C>A	c.(2833-2835)aCt>aAt	p.T945N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	945	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAATCCAAAAGTCTGTCCTGA	0.493																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2833-2835)aCt>aAt		filaggrin family member 2							313.0	310.0	311.0					1																	152327428		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327428G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2834C>A	1.37:g.152327428G>T	ENSP00000373370:p.Thr945Asn		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.T945N	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2906	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		945			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2834C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	7.241	0.601188	0.13939	.	.	ENSG00000143520	ENST00000388718	T	0.21191	2.02	4.05	-0.695	0.11291	.	.	.	.	.	T	0.05731	0.0150	L	0.47716	1.5	0.09310	N	1	B	0.30326	0.276	B	0.22880	0.042	T	0.32455	-0.9906	9	0.34782	T	0.22	.	8.5019	0.33163	0.0:0.4731:0.3656:0.1613	.	945	Q5D862	FILA2_HUMAN	N	945	ENSP00000373370:T945N	ENSP00000373370:T945N	T	-	2	0	FLG2	150594052	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.780000	0.26760	0.014000	0.14944	-0.176000	0.13171	ACT		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		5	250	5	250	---	---	---	---
LCE2A	353139	broad.mit.edu	37	1	152671573	152671573	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:152671573G>A	ENST00000368779.1	+	2	247	c.196G>A	c.(196-198)Ggc>Agc	p.G66S		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	66	Cys-rich.				keratinization (GO:0031424)					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGGGTGGCGGCTGCTGCCT	0.687																																						ENST00000368779.1																			0				breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(196-198)Ggc>Agc		late cornified envelope 2A							35.0	45.0	42.0					1																	152671573		2200	4297	6497	SO:0001583	missense	353139				keratinization			g.chr1:152671573G>A		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.196G>A	1.37:g.152671573G>A	ENSP00000357768:p.Gly66Ser		Somatic					p.G66S	NM_178428.3	NP_848515.1	WXS	Illumina GAIIx	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	247	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		66			Cys-rich.		A4QMZ9	Missense_Mutation	SNP	ENST00000368779.1	37	c.196G>A	CCDS1021.1	.	.	.	.	.	.	.	.	.	.	G	1.688	-0.504682	0.04261	.	.	ENSG00000187173	ENST00000368779	T	0.04603	3.59	4.61	0.0903	0.14463	.	.	.	.	.	T	0.01627	0.0052	L	0.58428	1.81	0.09310	N	1	B	0.33379	0.41	B	0.24394	0.053	T	0.40869	-0.9540	9	0.87932	D	0	.	6.001	0.19521	0.1679:0.0:0.5752:0.2569	.	66	Q5TA79	LCE2A_HUMAN	S	66	ENSP00000357768:G66S	ENSP00000357768:G66S	G	+	1	0	LCE2A	150938197	0.017000	0.18338	0.061000	0.19648	0.001000	0.01503	-0.301000	0.08232	-0.215000	0.10063	-2.142000	0.00338	GGC		0.687	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	NM_178428		5	80	5	80	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37284597	37284597	+	Silent	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:37284597G>A	ENST00000233099.5	-	15	2181	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	HEATR5B_ENST00000354531.2_Silent_p.L696L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	696						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCCGCTACCAGTTCTCTAAGA	0.368																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(2086-2088)Ctg>Ttg		HEAT repeat containing 5B							110.0	110.0	110.0					2																	37284597		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37284597G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2086C>T	2.37:g.37284597G>A			Somatic				HEATR5B_ENST00000354531.2_Silent_p.L696L	p.L696L	NM_019024.1	NP_061897.1	WXS	Illumina GAIIx	Phase_I	Q9P2D3	HTR5B_HUMAN			15	2181	-		all_hematologic(82;0.21)	696					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.2086C>T	CCDS33181.1																																																																																				0.368	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		15	27	15	27	---	---	---	---
AAMP	14	broad.mit.edu	37	2	219129773	219129773	+	Missense_Mutation	SNP	G	G	A	rs370095659		TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:219129773G>A	ENST00000248450.4	-	10	1369	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M	AAMP_ENST00000444053.1_Missense_Mutation_p.T401M|AAMP_ENST00000420660.1_Missense_Mutation_p.T381M			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	400					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATCTCAGCCGTGTGGCCCCG	0.592																																						ENST00000248450.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11						c.(1198-1200)aCg>aTg		angio-associated, migratory cell protein							81.0	88.0	86.0					2																	219129773		2203	4300	6503	SO:0001583	missense	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219129773G>A	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"""WD repeat domain containing"""	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.1199C>T	2.37:g.219129773G>A	ENSP00000248450:p.Thr400Met		Somatic				AAMP_ENST00000420660.1_Missense_Mutation_p.T381M|AAMP_ENST00000444053.1_Missense_Mutation_p.T401M	p.T400M			WXS	Illumina GAIIx	Phase_I	Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1369	-		Renal(207;0.0474)	400					Q8WUJ9|Q96H92	Missense_Mutation	SNP	ENST00000248450.4	37	c.1199C>T	CCDS33378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.49|15.49	2.847958|2.847958	0.51164|0.51164	.|.	.|.	ENSG00000127837|ENSG00000127837	ENST00000422731|ENST00000248450;ENST00000444053;ENST00000420660	.|T;T;T	.|0.65549	.|-0.16;-0.16;-0.16	5.6|5.6	3.8|3.8	0.43715|0.43715	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.367618	.|0.32548	.|N	.|0.005942	T|T	0.73458|0.73458	0.3589|0.3589	M|M	0.81239|0.81239	2.535|2.535	0.42232|0.42232	D|D	0.991892|0.991892	.|D;D;D	.|0.65815	.|0.988;0.992;0.995	.|P;P;P	.|0.55545	.|0.703;0.684;0.778	T|T	0.76179|0.76179	-0.3054|-0.3054	5|10	.|0.59425	.|D	.|0.04	-1.1235|-1.1235	11.9109|11.9109	0.52739|0.52739	0.1403:0.0:0.8597:0.0|0.1403:0.0:0.8597:0.0	.|.	.|401;400;381	.|C9JEH3;Q13685;C9JG97	.|.;AAMP_HUMAN;.	W|M	155|400;401;381	.|ENSP00000248450:T400M;ENSP00000403343:T401M;ENSP00000416394:T381M	.|ENSP00000248450:T400M	R|T	-|-	1|2	2|0	AAMP|AAMP	218838017|218838017	1.000000|1.000000	0.71417|0.71417	0.600000|0.600000	0.28864|0.28864	0.462000|0.462000	0.32619|0.32619	4.520000|4.520000	0.60524|0.60524	0.744000|0.744000	0.32741|0.32741	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.592	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		4	98	4	98	---	---	---	---
RBM44	375316	broad.mit.edu	37	2	238737875	238737875	+	Silent	SNP	T	T	C			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:238737875T>C	ENST00000409864.1	+	13	2873	c.2619T>C	c.(2617-2619)gcT>gcC	p.A873A	RBM44_ENST00000316997.4_Silent_p.A873A			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	872	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CATCTCTTGCTTTTACAAAAA	0.323																																						ENST00000316997.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2617-2619)gcT>gcC		RNA binding motif protein 44							66.0	64.0	64.0					2																	238737875		1818	4080	5898	SO:0001819	synonymous_variant	375316						nucleotide binding|RNA binding	g.chr2:238737875T>C	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.2619T>C	2.37:g.238737875T>C			Somatic				RBM44_ENST00000409864.1_Silent_p.A873A	p.A873A	NM_001080504.2	NP_001073973.2	WXS	Illumina GAIIx	Phase_I	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	13	2751	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	872			RRM.		A0AUW3	Silent	SNP	ENST00000409864.1	37	c.2619T>C	CCDS46554.1																																																																																				0.323	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		2	4	2	4	---	---	---	---
ANKRD28	23243	broad.mit.edu	37	3	15736275	15736275	+	Nonsense_Mutation	SNP	T	T	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr3:15736275T>A	ENST00000399451.2	-	17	2009	c.1642A>T	c.(1642-1644)Aga>Tga	p.R548*	ANKRD28_ENST00000497037.1_5'UTR|MIR3134_ENST00000579433.1_RNA|ANKRD28_ENST00000383777.1_Nonsense_Mutation_p.R581*	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	548						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATTGTTGCTCTATTATCTGAA	0.373																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(1642-1644)Aga>Tga		ankyrin repeat domain 28							160.0	148.0	152.0					3																	15736275		1878	4116	5994	SO:0001587	stop_gained	23243					nucleoplasm	protein binding	g.chr3:15736275T>A	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1642A>T	3.37:g.15736275T>A	ENSP00000382379:p.Arg548*		Somatic				ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Nonsense_Mutation_p.R581*	p.R548*	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	WXS	Illumina GAIIx	Phase_I	O15084	ANR28_HUMAN			17	2009	-			548					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Nonsense_Mutation	SNP	ENST00000399451.2	37	c.1642A>T	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	T	39	7.416826	0.98272	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	.	.	.	5.58	4.4	0.53042	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	12.8974	0.58108	0.0:0.0:0.1355:0.8645	.	.	.	.	X	548;581;548	.	ENSP00000373287:R581X	R	-	1	2	ANKRD28	15711279	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	2.562000	0.45914	0.916000	0.36871	0.533000	0.62120	AGA		0.373	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		22	30	22	30	---	---	---	---
MCM2	4171	broad.mit.edu	37	3	127327355	127327355	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr3:127327355A>G	ENST00000265056.7	+	7	1476	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	411					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CCAGGAGACGAGATAGTAAGT	0.642																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(1231-1233)gAg>gGg		minichromosome maintenance complex component 2							36.0	41.0	39.0					3																	127327355		2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127327355A>G	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1232A>G	3.37:g.127327355A>G	ENSP00000265056:p.Glu411Gly		Somatic					p.E411G	NM_004526.2	NP_004517.2	WXS	Illumina GAIIx	Phase_I	P49736	MCM2_HUMAN			7	1476	+			411					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.1232A>G	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.5|24.5	4.538835|4.538835	0.85917|0.85917	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.29397|.	1.57|.	5.31|5.31	5.31|5.31	0.75309|0.75309	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87305|0.87305	0.6144|0.6144	H|H	0.95884|0.95884	3.735|3.735	0.80722|0.80722	D|D	1|1	P;P;P|.	0.45715|.	0.763;0.865;0.716|.	B;P;P|.	0.54590|.	0.229;0.756;0.653|.	D|D	0.91344|0.91344	0.5099|0.5099	10|5	0.87932|.	D|.	0|.	-42.2017|-42.2017	14.9147|14.9147	0.70785|0.70785	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	392;281;411|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	G|G	411;315;392|274	ENSP00000265056:E411G|.	ENSP00000265056:E411G|.	E|R	+|+	2|1	0|2	MCM2|MCM2	128810045|128810045	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.960000|0.960000	0.62799|0.62799	7.125000|7.125000	0.77193|0.77193	2.004000|2.004000	0.58718|0.58718	0.482000|0.482000	0.46254|0.46254	GAG|AGA		0.642	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			16	20	16	20	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115767000	115767000	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr4:115767000G>C	ENST00000264363.2	-	10	2772	c.2094C>G	c.(2092-2094)gaC>gaG	p.D698E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	698	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGTATGCCCTGTCTGAGGGGT	0.423																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2092-2094)gaC>gaG		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							122.0	116.0	118.0					4																	115767000		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115767000G>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2094C>G	4.37:g.115767000G>C	ENSP00000264363:p.Asp698Glu		Somatic					p.D698E	NM_022569.1	NP_072091.1	WXS	Illumina GAIIx	Phase_I	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	10	2772	-		Ovarian(17;0.156)	698			Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.2094C>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214702	0.39102	.	.	ENSG00000138653	ENST00000264363	D	0.87334	-2.24	5.61	2.99	0.34606	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.81702	0.4878	L	0.45352	1.415	0.42707	D	0.993632	B	0.28850	0.225	B	0.34991	0.193	T	0.72564	-0.4255	10	0.30854	T	0.27	.	8.4982	0.33141	0.3599:0.0:0.6401:0.0	.	698	Q9H3R1	NDST4_HUMAN	E	698	ENSP00000264363:D698E	ENSP00000264363:D698E	D	-	3	2	NDST4	115986449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.498000	0.35660	0.328000	0.23435	0.655000	0.94253	GAC		0.423	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		15	40	15	40	---	---	---	---
PCDHB1	29930	broad.mit.edu	37	5	140432268	140432268	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:140432268G>T	ENST00000306549.3	+	1	1290	c.1213G>T	c.(1213-1215)Gtc>Ttc	p.V405F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	405	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTACTCACTGGTCACTGACAG	0.483																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(1213-1215)Gtc>Ttc									104.0	102.0	103.0					5																	140432268		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432268G>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1213G>T	5.37:g.140432268G>T	ENSP00000307234:p.Val405Phe		Somatic					p.V405F	NM_013340.2	NP_037472.2	WXS	Illumina GAIIx	Phase_I	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1290	+			405			Cadherin 4.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.1213G>T	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343506	0.24339	.	.	ENSG00000171815	ENST00000306549	T	0.02812	4.15	6.17	4.39	0.52855	Cadherin (4);Cadherin-like (1);	0.000000	0.42821	D	0.000646	T	0.12092	0.0294	M	0.87381	2.88	0.37346	D	0.910592	P	0.45672	0.864	P	0.51487	0.671	T	0.03202	-1.1061	10	0.66056	D	0.02	.	13.2469	0.60028	0.1314:0.0:0.8686:0.0	.	405	Q9Y5F3	PCDB1_HUMAN	F	405	ENSP00000307234:V405F	ENSP00000307234:V405F	V	+	1	0	PCDHB1	140412452	0.971000	0.33674	0.986000	0.45419	0.029000	0.11900	2.199000	0.42715	1.632000	0.50472	-0.140000	0.14226	GTC		0.483	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		27	47	27	47	---	---	---	---
SPINK5	11005	broad.mit.edu	37	5	147505314	147505314	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:147505314T>C	ENST00000256084.7	+	29	2810	c.2768T>C	c.(2767-2769)aTa>aCa	p.I923T	SPINK5_ENST00000359874.3_Missense_Mutation_p.I953T	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	923	Kazal-like 14. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAACTATATAAGGAACAAT	0.413																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(2857-2859)aTa>aCa		serine peptidase inhibitor, Kazal type 5							211.0	207.0	208.0					5																	147505314		1914	4127	6041	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147505314T>C	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2768T>C	5.37:g.147505314T>C	ENSP00000256084:p.Ile923Thr		Somatic				SPINK5_ENST00000256084.7_Missense_Mutation_p.I923T	p.I953T	NM_001127698.1	NP_001121170.1	WXS	Illumina GAIIx	Phase_I	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		30	2931	+			923			Kazal-like 14.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.2858T>C	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.248802	0.22880	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	T;T	0.06068	3.35;3.35	5.5	0.265	0.15612	Proteinase inhibitor I1, Kazal (1);	2.489640	0.01513	N	0.018001	T	0.05364	0.0142	L	0.29908	0.895	0.09310	N	1	B;B	0.19200	0.015;0.034	B;B	0.23150	0.038;0.044	T	0.37820	-0.9689	10	0.10111	T	0.7	5.8793	4.5343	0.12020	0.0:0.2551:0.1581:0.5867	.	953;923	Q9NQ38-3;Q9NQ38	.;ISK5_HUMAN	T	953;923	ENSP00000352936:I953T;ENSP00000256084:I923T	ENSP00000256084:I923T	I	+	2	0	SPINK5	147485507	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.192000	0.09587	-0.097000	0.12307	0.533000	0.62120	ATA		0.413	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		60	90	60	90	---	---	---	---
UBLCP1	134510	broad.mit.edu	37	5	158696066	158696066	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:158696066T>G	ENST00000296786.6	+	2	469	c.143T>G	c.(142-144)cTc>cGc	p.L48R		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	48	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTACTTGGACTCAAAGTTAAA	0.318																																						ENST00000296786.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9						c.(142-144)cTc>cGc		ubiquitin-like domain containing CTD phosphatase 1							83.0	80.0	81.0					5																	158696066		2203	4300	6503	SO:0001583	missense	134510					nucleus	phosphoprotein phosphatase activity	g.chr5:158696066T>G	AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.143T>G	5.37:g.158696066T>G	ENSP00000296786:p.Leu48Arg		Somatic					p.L48R	NM_145049.3	NP_659486.2	WXS	Illumina GAIIx	Phase_I	Q8WVY7	UBCP1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	469	+	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	48			Ubiquitin-like.		D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	c.143T>G	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577063	0.86645	.	.	ENSG00000164332	ENST00000296786	T	0.45668	0.89	6.02	6.02	0.97574	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78084	-0.2342	10	0.72032	D	0.01	-11.6649	16.5494	0.84464	0.0:0.0:0.0:1.0	.	48	Q8WVY7	UBCP1_HUMAN	R	48	ENSP00000296786:L48R	ENSP00000296786:L48R	L	+	2	0	UBLCP1	158628644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.665000	0.83852	2.299000	0.77371	0.528000	0.53228	CTC		0.318	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		25	44	25	44	---	---	---	---
KIFC1	3833	broad.mit.edu	37	6	33374066	33374066	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr6:33374066C>A	ENST00000428849.2	+	8	2080	c.1630C>A	c.(1630-1632)Cta>Ata	p.L544I		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	544	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGTATTCCAGCTACAGATTTC	0.642																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(1630-1632)Cta>Ata		kinesin family member C1							96.0	109.0	104.0					6																	33374066		2203	4300	6503	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33374066C>A	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1630C>A	6.37:g.33374066C>A	ENSP00000393963:p.Leu544Ile		Somatic					p.L544I	NM_002263.3	NP_002254.2	WXS	Illumina GAIIx	Phase_I	Q9BW19	KIFC1_HUMAN			8	2080	+			544			Kinesin-motor.		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.1630C>A	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.984003	0.74474	.	.	ENSG00000237649	ENST00000428849	T	0.42131	0.98	5.11	4.24	0.50183	Kinesin, motor domain (5);	0.000000	0.64402	D	0.000002	T	0.28928	0.0718	N	0.11560	0.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.36890	-0.9729	10	0.72032	D	0.01	-0.106	7.6193	0.28177	0.0:0.8136:0.0:0.1864	.	536;544	B4E063;Q9BW19	.;KIFC1_HUMAN	I	544	ENSP00000393963:L544I	ENSP00000393963:L544I	L	+	1	2	KIFC1	33482044	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.125000	0.50469	1.363000	0.46019	0.558000	0.71614	CTA		0.642	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		57	85	57	85	---	---	---	---
TBC1D32	221322	broad.mit.edu	37	6	121642938	121642938	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr6:121642938T>A	ENST00000398212.2	-	2	207	c.158A>T	c.(157-159)tAt>tTt	p.Y53F	TBC1D32_ENST00000275159.6_Missense_Mutation_p.Y53F	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	53					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										CACAAATTCATAGCTGAAACA	0.318																																						ENST00000275159.6																			0											c.(157-159)tAt>tTt		TBC1 domain family, member 32							99.0	88.0	91.0					6																	121642938		1816	4086	5902	SO:0001583	missense	221322							g.chr6:121642938T>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.158A>T	6.37:g.121642938T>A	ENSP00000381270:p.Tyr53Phe		Somatic				TBC1D32_ENST00000398212.2_Missense_Mutation_p.Y53F	p.Y53F			WXS	Illumina GAIIx	Phase_I					2	157	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.158A>T	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.766117	0.90020	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.25085	1.82;1.82;1.82	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	M	0.66939	2.045	0.47994	D	0.999566	D	0.71674	0.998	D	0.69142	0.962	T	0.39099	-0.9630	10	0.87932	D	0	-0.0318	15.6198	0.76796	0.0:0.0:0.0:1.0	.	53	Q96NH3	BROMI_HUMAN	F	53	ENSP00000275159:Y53F;ENSP00000381270:Y53F;ENSP00000397993:Y53F	ENSP00000275159:Y53F	Y	-	2	0	C6orf170	121684637	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.029000	0.76477	2.108000	0.64289	0.533000	0.62120	TAT		0.318	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		29	44	29	44	---	---	---	---
BMPER	168667	broad.mit.edu	37	7	34192862	34192862	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr7:34192862C>A	ENST00000297161.2	+	16	2409	c.2035C>A	c.(2035-2037)Cca>Aca	p.P679T	BMPER_ENST00000426693.1_Missense_Mutation_p.P679T	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	679	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTGCATCAAGCCAGTCCTTTG	0.507																																						ENST00000297161.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2035-2037)Cca>Aca		BMP binding endothelial regulator							144.0	113.0	124.0					7																	34192862		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34192862C>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.2035C>A	7.37:g.34192862C>A	ENSP00000297161:p.Pro679Thr		Somatic				BMPER_ENST00000426693.1_Missense_Mutation_p.P679T	p.P679T	NM_133468.4	NP_597725.1	WXS	Illumina GAIIx	Phase_I	Q8N8U9	BMPER_HUMAN			16	2409	+			679			TIL.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.2035C>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869224	0.91587	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.79845	-1.31;-1.31	6.03	6.03	0.97812	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.000000	0.85682	D	0.000000	D	0.89928	0.6857	M	0.83852	2.665	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.85387	0.1123	10	0.13470	T	0.59	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	679	Q8N8U9	BMPER_HUMAN	T	679	ENSP00000297161:P679T;ENSP00000393950:P679T	ENSP00000297161:P679T	P	+	1	0	BMPER	34159387	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.868000	0.98415	0.557000	0.71058	CCA		0.507	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		18	37	18	37	---	---	---	---
PTN	5764	broad.mit.edu	37	7	136936041	136936041	+	Silent	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr7:136936041G>A	ENST00000348225.2	-	4	814	c.387C>T	c.(385-387)gcC>gcT	p.A129A	PTN_ENST00000393083.2_Silent_p.A129A	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	129					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TCTGGCATTCGGCATTGTGCA	0.507																																						ENST00000348225.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(385-387)gcC>gcT		pleiotrophin							305.0	278.0	287.0					7																	136936041		2203	4300	6503	SO:0001819	synonymous_variant	5764				nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	g.chr7:136936041G>A	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.387C>T	7.37:g.136936041G>A			Somatic				PTN_ENST00000393083.2_Silent_p.A129A	p.A129A	NM_002825.5	NP_002816.1	WXS	Illumina GAIIx	Phase_I	P21246	PTN_HUMAN			4	814	-			129					Q5U0B0|Q6ICQ5|Q9UCC6	Silent	SNP	ENST00000348225.2	37	c.387C>T	CCDS5844.1																																																																																				0.507	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825		61	104	61	104	---	---	---	---
CTAGE5	4253	broad.mit.edu	37	14	39769118	39769118	+	Silent	SNP	A	A	G			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr14:39769118A>G	ENST00000280083.3	+	9	1037	c.723A>G	c.(721-723)aaA>aaG	p.K241K	CTAGE5_ENST00000556148.1_Silent_p.K166K|CTAGE5_ENST00000348007.3_Silent_p.K241K|RP11-407N17.3_ENST00000553728.1_Silent_p.K776K|CTAGE5_ENST00000396158.2_Silent_p.K246K|CTAGE5_ENST00000553352.1_Silent_p.K212K|CTAGE5_ENST00000341502.5_Silent_p.K241K|CTAGE5_ENST00000396165.4_Silent_p.K212K|CTAGE5_ENST00000557038.1_Silent_p.K161K|CTAGE5_ENST00000341749.3_Silent_p.K229K|RP11-407N17.3_ENST00000603904.1_Silent_p.K212K			O15320	CTGE5_HUMAN	CTAGE family, member 5	241					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AACTTAATAAACAGAAAGTAA	0.323																																						ENST00000553728.1																			0											c.(2326-2328)aaA>aaG									127.0	132.0	130.0					14																	39769118		2203	4297	6500	SO:0001819	synonymous_variant	4253							g.chr14:39769118A>G	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.723A>G	14.37:g.39769118A>G			Somatic				CTAGE5_ENST00000557038.1_Silent_p.K161K|CTAGE5_ENST00000341502.5_Silent_p.K241K|RP11-407N17.3_ENST00000603904.1_Silent_p.K212K|CTAGE5_ENST00000396165.4_Silent_p.K212K|CTAGE5_ENST00000553352.1_Silent_p.K212K|CTAGE5_ENST00000556148.1_Silent_p.K166K|CTAGE5_ENST00000280083.3_Silent_p.K241K|CTAGE5_ENST00000396158.2_Silent_p.K246K|CTAGE5_ENST00000341749.3_Silent_p.K229K|CTAGE5_ENST00000348007.3_Silent_p.K241K	p.K776K			WXS	Illumina GAIIx	Phase_I					13	2541	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	ENST00000280083.3	37	c.2328A>G	CCDS9674.1																																																																																				0.323	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		28	32	28	32	---	---	---	---
TRIM9	114088	broad.mit.edu	37	14	51560842	51560842	+	Silent	SNP	T	T	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr14:51560842T>A	ENST00000298355.3	-	1	1937	c.816A>T	c.(814-816)ctA>ctT	p.L272L	TRIM9_ENST00000360392.4_Silent_p.L272L|RP11-1140I5.1_ENST00000554475.1_RNA|TRIM9_ENST00000338969.5_Silent_p.L272L	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	272					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TCACCTTATGTAGTTTCCACA	0.567																																						ENST00000298355.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(814-816)ctA>ctT		tripartite motif containing 9							153.0	131.0	139.0					14																	51560842		2203	4300	6503	SO:0001819	synonymous_variant	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51560842T>A	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.816A>T	14.37:g.51560842T>A			Somatic				TRIM9_ENST00000360392.4_Silent_p.L272L|TRIM9_ENST00000338969.5_Silent_p.L272L	p.L272L	NM_015163.5	NP_055978.4	WXS	Illumina GAIIx	Phase_I	Q9C026	TRIM9_HUMAN			1	1937	-	all_epithelial(31;0.00418)|Breast(41;0.148)		272					D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Silent	SNP	ENST00000298355.3	37	c.816A>T	CCDS9703.1																																																																																				0.567	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		20	31	20	31	---	---	---	---
EFCAB5	374786	broad.mit.edu	37	17	28434998	28434998	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr17:28434998T>C	ENST00000394835.3	+	23	4660	c.4468T>C	c.(4468-4470)Tat>Cat	p.Y1490H	EFCAB5_ENST00000320856.5_Missense_Mutation_p.Y1366H|EFCAB5_ENST00000394832.2_Missense_Mutation_p.Y962H|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1490							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACTGACAATTATATGTATGC	0.373																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(4468-4470)Tat>Cat		EF-hand calcium binding domain 5							159.0	147.0	151.0					17																	28434998		1869	4110	5979	SO:0001583	missense	374786						calcium ion binding	g.chr17:28434998T>C	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.4468T>C	17.37:g.28434998T>C	ENSP00000378312:p.Tyr1490His		Somatic				EFCAB5_ENST00000394832.2_Missense_Mutation_p.Y962H|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000320856.5_Missense_Mutation_p.Y1366H	p.Y1490H	NM_198529.3	NP_940931	WXS	Illumina GAIIx	Phase_I	A4FU69	EFCB5_HUMAN			23	4660	+			1490					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.4468T>C	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	9.989	1.230197	0.22542	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000394832;ENST00000419434	T;T;T;T	0.18338	2.93;2.94;2.22;2.95	3.62	-1.43	0.08884	.	2.405150	0.01464	N	0.015983	T	0.13670	0.0331	L	0.36672	1.1	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.14023	0.01;0.01;0.01	T	0.28170	-1.0052	10	0.52906	T	0.07	6.5629	2.463	0.04546	0.3426:0.216:0.0:0.4414	.	962;1366;1490	B5MEA3;E7EVS9;A4FU69	.;.;EFCB5_HUMAN	H	1490;1366;962;1172	ENSP00000378312:Y1490H;ENSP00000322003:Y1366H;ENSP00000378309:Y962H;ENSP00000417009:Y1172H	ENSP00000322003:Y1366H	Y	+	1	0	EFCAB5	25459124	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.090000	0.11163	-0.341000	0.08376	0.533000	0.62120	TAT		0.373	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		34	51	34	51	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22942458	22942458	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr19:22942458A>T	ENST00000596209.1	-	4	343	c.253T>A	c.(253-255)Ttt>Att	p.F85I	ZNF99_ENST00000397104.3_Missense_Mutation_p.F106I	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTGGCCAAAAGTCTTGTGTA	0.289																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(316-318)Ttt>Att		zinc finger protein 99							45.0	40.0	42.0					19																	22942458		1821	4094	5915	SO:0001583	missense	7652							g.chr19:22942458A>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.253T>A	19.37:g.22942458A>T	ENSP00000472969:p.Phe85Ile		Somatic				ZNF99_ENST00000596209.1_Missense_Mutation_p.F85I	p.F106I			WXS	Illumina GAIIx	Phase_I					4	315	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.316T>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.040	-1.289906	0.01387	.	.	ENSG00000213973	ENST00000397104	T	0.05855	3.38	0.937	-0.922	0.10468	.	.	.	.	.	T	0.02727	0.0082	N	0.05510	-0.035	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.46748	-0.9169	9	0.20519	T	0.43	.	3.9849	0.09511	0.7219:0.0:0.2781:0.0	.	106	A8MXY4	ZNF99_HUMAN	I	106	ENSP00000380293:F106I	ENSP00000380293:F106I	F	-	1	0	ZNF99	22734298	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-3.039000	0.00633	-1.290000	0.02372	-1.304000	0.01323	TTT		0.289	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		6	7	6	7	---	---	---	---
ARHGAP36	158763	broad.mit.edu	37	X	130217750	130217750	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chrX:130217750T>A	ENST00000276211.5	+	4	707	c.362T>A	c.(361-363)cTg>cAg	p.L121Q	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L109Q|ARHGAP36_ENST00000370921.1_5'UTR	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	121					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GAAGAGGTCCTGGTGAACGAG	0.552																																						ENST00000276211.5																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(361-363)cTg>cAg		Rho GTPase activating protein 36							132.0	126.0	128.0					X																	130217750		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130217750T>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.362T>A	X.37:g.130217750T>A	ENSP00000276211:p.Leu121Gln		Somatic				ARHGAP36_ENST00000370921.1_5'UTR|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L109Q	p.L121Q	NM_144967.3	NP_659404.2	WXS	Illumina GAIIx	Phase_I	Q6ZRI8	RHG36_HUMAN			4	707	+			121					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.362T>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.138823	0.37728	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.14144	2.53;2.54;2.57	4.3	4.3	0.51218	Rho GTPase-activating protein domain (1);	0.240961	0.22239	N	0.062704	T	0.20292	0.0488	N	0.19112	0.55	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.995	D;D;D	0.87578	0.994;0.998;0.986	T	0.02385	-1.1167	10	0.72032	D	0.01	.	8.818	0.35007	0.0:0.0:0.0:1.0	.	90;109;121	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	Q	121;109;73;90	ENSP00000276211:L121Q;ENSP00000359960:L109Q;ENSP00000408515:L90Q	ENSP00000276211:L121Q	L	+	2	0	ARHGAP36	130045431	1.000000	0.71417	0.913000	0.36048	0.023000	0.10783	3.028000	0.49705	1.903000	0.55091	0.486000	0.48141	CTG		0.552	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		54	19	54	19	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166165198	166165198	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:166165198delA	ENST00000375437.2	+	5	789	c.499delA	c.(499-501)actfs	p.T167fs	SCN2A_ENST00000375427.2_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000283256.6_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000357398.3_Frame_Shift_Del_p.T167fs	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	167					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGAATTTATACTTTTGAATC	0.313																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(499-501)actfs		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						72.0	78.0	76.0					2																	166165198		2197	4296	6493	SO:0001589	frameshift_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166165198delA	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.499delA	2.37:g.166165198delA	ENSP00000364586:p.Thr167fs		Somatic				SCN2A_ENST00000375427.2_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000283256.6_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000357398.3_Frame_Shift_Del_p.T167fs	p.T167fs	NM_001040142.1	NP_001035232.1	WXS	Illumina GAIIx	Phase_I	Q99250	SCN2A_HUMAN			5	789	+			167					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Frame_Shift_Del	DEL	ENST00000375437.2	37	c.499delA	CCDS33314.1																																																																																				0.313	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		24	51	24	51	---	---	---	---
PUS7L	83448	broad.mit.edu	37	12	44148985	44148996	+	In_Frame_Del	DEL	CAACGTGATCAT	CAACGTGATCAT	-	rs145711853|rs201700465	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr12:44148985_44148996delCAACGTGATCAT	ENST00000416848.2	-	2	541_552	c.53_64delATGATCACGTTG	c.(52-66)aatgatcacgttgga>aga	p.18_22NDHVG>R	PUS7L_ENST00000553166.1_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000551923.1_In_Frame_Del_p.18_22NDHVG>R	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	18					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CCATGAAATCCAACGTGATCATTAAAGAAACA	0.33																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(52-66)aatgatcacgttgga>aga		pseudouridylate synthase 7 homolog (S. cerevisiae)-like																																				SO:0001651	inframe_deletion	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148985_44148996delCAACGTGATCAT	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.53_64delATGATCACGTTG	12.37:g.44148985_44148996delCAACGTGATCAT	ENSP00000415899:p.Asn18_Gly22delinsArg		Somatic				PUS7L_ENST00000553166.1_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000551923.1_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000344862.5_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000431332.3_Intron	p.18_22NDHVG>R	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	WXS	Illumina GAIIx	Phase_I	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	541_552	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	18					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	In_Frame_Del	DEL	ENST00000416848.2	37	c.53_64delATGATCACGTTG	CCDS8743.1																																																																																				0.330	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		10	17	10	17	---	---	---	---
