#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_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
YBX2	51087	broad.mit.edu	37	17	7193313	7193313	+	Silent	SNP	C	C	T			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr17:7193313C>T	ENST00000007699.5	-	6	885	c.822G>A	c.(820-822)ccG>ccA	p.P274P	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	274	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GGAATCTGGGCGGGGGGACTC	0.627																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(820-822)ccG>ccA		Y box binding protein 2							44.0	48.0	47.0					17																	7193313		2203	4300	6503	SO:0001819	synonymous_variant	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7193313C>T	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.822G>A	17.37:g.7193313C>T							p.P274P	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN			6	885	-			274			Pro-rich.|Required for mRNA-binding.		D3DTP1|Q8N4P0	Silent	SNP	ENST00000007699.5	37	c.822G>A	CCDS11098.1																																																																																				0.627	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		4	18	0	0	0	1	0	4	18				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	51	0	0	0	1	0	4	51				
CACNB2	783	broad.mit.edu	37	10	18828544	18828544	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr10:18828544G>A	ENST00000324631.7	+	14	1934	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H	RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.R375H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R597H|CACNB2_ENST00000396576.2_Missense_Mutation_p.R570H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R573H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R532H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R601H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R577H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R571H|RP11-499P20.2_ENST00000425669.1_RNA	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	625					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AACAAGCAGCGCAGCCGTCAT	0.547																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(1708-1710)cGc>cAc		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						72.0	64.0	66.0					10																	18828544		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18828544G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1874G>A	10.37:g.18828544G>A	ENSP00000320025:p.Arg625His					RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.R577H|CACNB2_ENST00000324631.7_Missense_Mutation_p.R625H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R601H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R532H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R597H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R571H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R375H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R573H	p.R570H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			13	2210	+			625					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1709G>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143788	0.57044	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.86097	-1.88;1.95;-2.07;-1.87;1.95;-1.9;-1.94;-1.9;-1.91	5.7	5.7	0.88788	.	0.496751	0.20802	N	0.085403	D	0.90369	0.6986	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.992;1.0;1.0	D;D;D;D;D;D;D;D;D;D;P;D;D	0.91635	0.976;0.996;0.999;0.992;0.998;0.997;0.996;0.996;0.996;0.998;0.674;0.998;0.996	D	0.90121	0.4199	10	0.56958	D	0.05	-10.0878	19.8389	0.96675	0.0:0.0:1.0:0.0	.	539;597;375;577;547;571;581;532;573;597;587;601;625	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	625;601;375;597;573;570;532;571;577	ENSP00000320025:R625H;ENSP00000344474:R601H;ENSP00000366545:R375H;ENSP00000282343:R597H;ENSP00000366548:R573H;ENSP00000379821:R570H;ENSP00000366536:R532H;ENSP00000366546:R571H;ENSP00000366532:R577H	ENSP00000282343:R597H	R	+	2	0	CACNB2	18868550	1.000000	0.71417	0.257000	0.24404	0.346000	0.29079	7.556000	0.82233	2.703000	0.92315	0.655000	0.94253	CGC		0.547	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		11	46	0	0	0	1	0	11	46				
FANK1	92565	broad.mit.edu	37	10	127693555	127693555	+	Silent	SNP	G	G	A	rs137911829		TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr10:127693555G>A	ENST00000368693.1	+	7	746	c.642G>A	c.(640-642)ctG>ctA	p.L214L	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368695.1_Silent_p.L208L			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	214						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GTACAGCTCTGCACTGGGCTG	0.532																																						ENST00000368695.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21						c.(622-624)ctG>ctA		fibronectin type III and ankyrin repeat domains 1		G		1,4405	2.1+/-5.4	0,1,2202	168.0	155.0	159.0		642	4.9	1.0	10	dbSNP_134	159	0,8600		0,0,4300	no	coding-synonymous	FANK1	NM_145235.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		214/346	127693555	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92565					cytoplasm|nucleus		g.chr10:127693555G>A	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.642G>A	10.37:g.127693555G>A						FANK1_ENST00000368693.1_Silent_p.L214L|FANK1_ENST00000477963.1_3'UTR	p.L208L	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN			7	746	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	214					Q6UXY9|Q6X7T6	Silent	SNP	ENST00000368693.1	37	c.624G>A	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	G	9.448	1.089780	0.20390	2.27E-4	0.0	ENSG00000203780	ENST00000456942	.	.	.	5.79	4.89	0.63831	.	.	.	.	.	T	0.69771	0.3148	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68887	-0.5290	4	.	.	.	-13.8701	13.7511	0.62908	0.0747:0.0:0.9253:0.0	.	.	.	.	Y	109	.	.	C	+	2	0	FANK1	127683545	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	4.751000	0.62169	1.457000	0.47850	0.655000	0.94253	TGC		0.532	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		5	76	0	0	0	1	0	5	76				
PRDM16	63976	broad.mit.edu	37	1	3327970	3327970	+	Silent	SNP	C	C	T			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr1:3327970C>T	ENST00000270722.5	+	9	1258	c.1209C>T	c.(1207-1209)taC>taT	p.Y403Y	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.Y403Y|PRDM16_ENST00000442529.2_Silent_p.Y403Y|PRDM16_ENST00000511072.1_Silent_p.Y404Y|PRDM16_ENST00000378398.3_Silent_p.Y404Y|PRDM16_ENST00000514189.1_Silent_p.Y404Y|PRDM16_ENST00000441472.2_Silent_p.Y403Y			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	403					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACAAGTCCTACACGCAGTTCT	0.542			T	EVI1	"""MDS, AML"""																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(1210-1212)taC>taT		PR domain containing 16							62.0	64.0	64.0					1																	3327970		2168	4288	6456	SO:0001819	synonymous_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3327970C>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1209C>T	1.37:g.3327970C>T						PRDM16_ENST00000442529.2_Silent_p.Y403Y|PRDM16_ENST00000441472.2_Silent_p.Y403Y|PRDM16_ENST00000511072.1_Silent_p.Y404Y|PRDM16_ENST00000270722.5_Silent_p.Y403Y|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.Y403Y|PRDM16_ENST00000514189.1_Silent_p.Y404Y	p.Y404Y			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	10	1294	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	403					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.1212C>T	CCDS41236.2																																																																																				0.542	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		6	8	0	0	0	1	0	6	8				
IQCE	23288	broad.mit.edu	37	7	2644558	2644558	+	Missense_Mutation	SNP	G	G	A	rs370405991		TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr7:2644558G>A	ENST00000402050.2	+	19	1860	c.1676G>A	c.(1675-1677)cGg>cAg	p.R559Q	IQCE_ENST00000404984.1_Missense_Mutation_p.R508Q|IQCE_ENST00000325979.7_Missense_Mutation_p.R494Q|IQCE_ENST00000438376.2_Missense_Mutation_p.R543Q	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	559	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CATCTCACGCGGACAAAGCTC	0.622																																						ENST00000402050.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1675-1677)cGg>cAg		IQ motif containing E		G	GLN/ARG,GLN/ARG	0,4254		0,0,2127	54.0	60.0	58.0		1628,1676	4.9	0.1	7		58	1,8489		0,1,4244	no	missense,missense	IQCE	NM_001100390.1,NM_152558.3	43,43	0,1,6371	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging,possibly-damaging	543/680,559/696	2644558	1,12743	2127	4245	6372	SO:0001583	missense	23288							g.chr7:2644558G>A	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1676G>A	7.37:g.2644558G>A	ENSP00000385597:p.Arg559Gln					IQCE_ENST00000325979.7_Missense_Mutation_p.R494Q|IQCE_ENST00000438376.2_Missense_Mutation_p.R543Q|IQCE_ENST00000404984.1_Missense_Mutation_p.R508Q	p.R559Q	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	19	1860	+		Ovarian(82;0.0112)	559			IQ 1.		Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	c.1676G>A	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258998	0.59321	0.0	1.18E-4	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000438376;ENST00000325979;ENST00000423196	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	4.9	4.9	0.64082	.	0.171081	0.37219	N	0.002195	T	0.73737	0.3625	M	0.71581	2.175	0.22142	N	0.999334	D;D;P;D;P	0.58620	0.983;0.97;0.825;0.97;0.791	P;P;B;P;B	0.58780	0.845;0.638;0.249;0.638;0.161	T	0.68326	-0.5438	10	0.72032	D	0.01	-13.5113	13.6658	0.62393	0.0:0.0:1.0:0.0	.	494;543;559;559;543	B4DXN1;B4DDX4;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;IQCE_HUMAN;.;.	Q	559;508;543;494;139	ENSP00000385597:R559Q;ENSP00000385945:R508Q;ENSP00000396178:R543Q;ENSP00000313772:R494Q;ENSP00000405982:R139Q	ENSP00000313772:R494Q	R	+	2	0	IQCE	2611084	0.900000	0.30661	0.072000	0.20136	0.004000	0.04260	5.075000	0.64407	2.286000	0.76751	0.650000	0.86243	CGG		0.622	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		6	10	0	0	0	1	0	6	10				
AKAP9	10142	broad.mit.edu	37	7	91711856	91711856	+	Silent	SNP	T	T	C			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr7:91711856T>C	ENST00000359028.2	+	33	8301	c.8076T>C	c.(8074-8076)caT>caC	p.H2692H	AKAP9_ENST00000358100.2_Silent_p.H2692H|AKAP9_ENST00000356239.3_Silent_p.H2680H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2692	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGCTATTTCATAGCAATGAAG	0.338			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(8074-8076)caT>caC		A kinase (PRKA) anchor protein 9							68.0	71.0	70.0					7																	91711856		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91711856T>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8076T>C	7.37:g.91711856T>C						AKAP9_ENST00000358100.2_Silent_p.H2692H|AKAP9_ENST00000356239.3_Silent_p.H2680H	p.H2692H			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		33	8301	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2692			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.8076T>C																																																																																					0.338	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		35	63	0	0	0	1	0	35	63				
CCSER1	401145	broad.mit.edu	37	4	91229914	91229914	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr4:91229914A>G	ENST00000509176.1	+	2	767	c.479A>G	c.(478-480)gAt>gGt	p.D160G	CCSER1_ENST00000333691.8_Missense_Mutation_p.D160G|CCSER1_ENST00000432775.2_Missense_Mutation_p.D160G	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	160																	AGTGAAGGGGATGATTCTGGT	0.358																																						ENST00000509176.1																			0											c.(478-480)gAt>gGt		coiled-coil serine-rich protein 1							54.0	53.0	53.0					4																	91229914		1834	4092	5926	SO:0001583	missense	401145							g.chr4:91229914A>G		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.479A>G	4.37:g.91229914A>G	ENSP00000425040:p.Asp160Gly					CCSER1_ENST00000333691.8_Missense_Mutation_p.D160G|CCSER1_ENST00000432775.2_Missense_Mutation_p.D160G	p.D160G	NM_001145065.1	NP_001138537.1					2	767	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.479A>G	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.661730	0.67700	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.59638	0.74;0.25;0.74	5.18	5.18	0.71444	.	0.061459	0.64402	D	0.000005	T	0.70491	0.3230	L	0.48642	1.525	0.44754	D	0.997753	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.91635	0.878;0.998;0.999	T	0.73591	-0.3934	10	0.87932	D	0	-28.0797	15.7521	0.77994	1.0:0.0:0.0:0.0	.	160;160;160	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	G	160	ENSP00000425040:D160G;ENSP00000389283:D160G;ENSP00000329482:D160G	ENSP00000329482:D160G	D	+	2	0	FAM190A	91448937	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	8.502000	0.90505	2.254000	0.74563	0.533000	0.62120	GAT		0.358	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		12	20	0	0	0	1	0	12	20				
FGFR4	2264	broad.mit.edu	37	5	176523689	176523689	+	Silent	SNP	G	G	A			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr5:176523689G>A	ENST00000292408.4	+	16	2345	c.2100G>A	c.(2098-2100)tcG>tcA	p.S700S	FGFR4_ENST00000502906.1_Silent_p.S700S|FGFR4_ENST00000393648.2_Silent_p.S632S|FGFR4_ENST00000292410.3_Silent_p.S660S|FGFR4_ENST00000393637.1_Silent_p.S660S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	700	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	AGCTGTTCTCGCTGCTGCGGG	0.652										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(2098-2100)tcG>tcA		fibroblast growth factor receptor 4	Palifermin(DB00039)						66.0	65.0	65.0					5																	176523689		2203	4300	6503	SO:0001819	synonymous_variant	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176523689G>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.2100G>A	5.37:g.176523689G>A		TSP Lung(9;0.080)				FGFR4_ENST00000393648.2_Silent_p.S632S|FGFR4_ENST00000393637.1_Silent_p.S660S|FGFR4_ENST00000502906.1_Silent_p.S700S|FGFR4_ENST00000292410.3_Silent_p.S660S	p.S700S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2345	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	700			Protein kinase.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP	ENST00000292408.4	37	c.2100G>A	CCDS4410.1																																																																																				0.652	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			11	46	0	0	0	1	0	11	46				
KCNH5	27133	broad.mit.edu	37	14	63246574	63246574	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr14:63246574G>A	ENST00000322893.7	-	10	2159	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.R573W	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	631					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTCAGTGCCCGGACGTTCGCA	0.453																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1891-1893)Cgg>Tgg		potassium voltage-gated channel, subfamily H (eag-related), member 5							111.0	99.0	103.0					14																	63246574		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63246574G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1891C>T	14.37:g.63246574G>A	ENSP00000321427:p.Arg631Trp					KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.R573W	p.R631W	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	10	2159	-			631					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1891C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562092	0.45590	.	.	ENSG00000140015	ENST00000322893;ENST00000394968	D;D	0.97186	-4.28;-4.28	5.72	4.78	0.61160	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98896	0.9626	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.87578	0.998;0.88	D	0.99308	1.0903	10	0.87932	D	0	.	15.117	0.72410	0.0:0.0:0.8294:0.1706	.	573;631	Q8NCM2-3;Q8NCM2	.;KCNH5_HUMAN	W	631;573	ENSP00000321427:R631W;ENSP00000378419:R573W	ENSP00000321427:R631W	R	-	1	2	KCNH5	62316327	1.000000	0.71417	0.993000	0.49108	0.023000	0.10783	2.500000	0.45381	1.247000	0.43917	0.585000	0.79938	CGG		0.453	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		3	49	0	0	0	1	0	3	49				
F12	2161	broad.mit.edu	37	5	176833050	176833050	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr5:176833050G>T	ENST00000253496.3	-	3	176	c.128C>A	c.(127-129)aCc>aAc	p.T43N	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	43	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GGGCTCCCCGGTGACAGTGAG	0.592									Hereditary Angioedema																													ENST00000253496.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12						c.(127-129)aCc>aAc		coagulation factor XII (Hageman factor)							82.0	81.0	82.0					5																	176833050		2203	4300	6503	SO:0001583	missense	2161	Hereditary Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176833050G>T	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.128C>A	5.37:g.176833050G>T	ENSP00000253496:p.Thr43Asn						p.T43N	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	176	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	43			Fibronectin type-II.		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.128C>A	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380260	0.24944	.	.	ENSG00000131187	ENST00000253496	D	0.85258	-1.96	5.31	2.36	0.29203	Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.443158	0.19188	N	0.120496	T	0.66177	0.2763	N	0.05259	-0.085	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.54193	-0.8330	10	0.32370	T	0.25	.	6.8659	0.24093	0.0:0.2022:0.3644:0.4334	.	43	P00748	FA12_HUMAN	N	43	ENSP00000253496:T43N	ENSP00000253496:T43N	T	-	2	0	F12	176765656	0.000000	0.05858	0.671000	0.29857	0.981000	0.71138	0.362000	0.20284	0.584000	0.29591	-0.230000	0.12252	ACC		0.592	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			18	35	1	0	5.35267e-07	1	6.04333e-07	18	35				
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T	rs368809647		TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	86	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617																																						ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(301-303)ggC>ggT		keratin associated protein 9-9							78.0	83.0	81.0					17																	39411940		2203	4297	6500	SO:0001819	synonymous_variant	81870					keratin filament		g.chr17:39411940C>T	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.303C>T	17.37:g.39411940C>T							p.G101G	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	305	+		Breast(137;0.000496)	101					B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	c.303C>T	CCDS54127.1																																																																																				0.617	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		4	127	0	0	0	1	0	4	127				
ZHX2	22882	broad.mit.edu	37	8	123965941	123965941	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr8:123965941T>G	ENST00000314393.4	+	3	3026	c.2191T>G	c.(2191-2193)Tac>Gac	p.Y731D		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	731					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TCCACAATATTACAAGGACCC	0.527																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(2191-2193)Tac>Gac		zinc fingers and homeoboxes 2							96.0	102.0	100.0					8																	123965941		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965941T>G	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2191T>G	8.37:g.123965941T>G	ENSP00000314709:p.Tyr731Asp						p.Y731D	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	3026	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		731						Missense_Mutation	SNP	ENST00000314393.4	37	c.2191T>G	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	T	8.378	0.836957	0.16891	.	.	ENSG00000178764	ENST00000314393	T	0.23754	1.89	5.94	-8.73	0.00841	.	1.392090	0.04249	N	0.338273	T	0.12475	0.0303	N	0.14661	0.345	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.34775	-0.9815	10	0.87932	D	0	-0.475	5.6419	0.17569	0.0914:0.4567:0.195:0.2568	.	731	Q9Y6X8	ZHX2_HUMAN	D	731	ENSP00000314709:Y731D	ENSP00000314709:Y731D	Y	+	1	0	ZHX2	124035122	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.058000	0.11750	-1.615000	0.01573	-0.379000	0.06801	TAC		0.527	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		13	69	0	0	0	1	0	13	69				
FRG1B	284802	broad.mit.edu	37	20	29625955	29625955	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr20:29625955A>T	ENST00000278882.3	+	5	579	c.199A>T	c.(199-201)Aga>Tga	p.R67*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATTGGACCAAGAGAACAATG	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(199-201)Aga>Tga																																						SO:0001587	stop_gained	284802							g.chr20:29625955A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.199A>T	20.37:g.29625955A>T	ENSP00000278882:p.Arg67*					FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*	p.R67*							5	579	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.199A>T		.	.	.	.	.	.	.	.	.	.	a	29.6	5.022161	0.93462	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	.	.	.	X	67;72;67	.	ENSP00000278882:R67X	R	+	1	2	FRG1B	28239616	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	3.670000	0.54569	1.028000	0.39785	0.155000	0.16302	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	96	0	0	0	1	0	7	96				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		4	63	0	0	0	1	0	4	63				
LRRTM3	347731	broad.mit.edu	37	10	68687983	68687983	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr10:68687983G>C	ENST00000361320.4	+	2	1887	c.1309G>C	c.(1309-1311)Gtt>Ctt	p.V437L	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	437					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CATCCTGCTGGTTATCTACGT	0.567																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(1309-1311)Gtt>Ctt		leucine rich repeat transmembrane neuronal 3							89.0	87.0	87.0					10																	68687983		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687983G>C	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1309G>C	10.37:g.68687983G>C	ENSP00000355187:p.Val437Leu					CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron	p.V437L	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	1887	+			437					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.1309G>C	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240363	0.79912	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.75938	-0.98	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000009	D	0.86690	0.5993	M	0.79475	2.455	0.80722	D	1	D;D	0.60575	0.98;0.988	P;D	0.67231	0.893;0.95	D	0.86870	0.2035	10	0.72032	D	0.01	.	19.3958	0.94607	0.0:0.0:1.0:0.0	.	437;437	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	L	437	ENSP00000355187:V437L	ENSP00000355187:V437L	V	+	1	0	LRRTM3	68357989	1.000000	0.71417	0.933000	0.37362	0.980000	0.70556	9.869000	0.99810	2.879000	0.98667	0.650000	0.86243	GTT		0.567	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		5	61	0	0	0	1	0	5	61				
ZNF491	126069	broad.mit.edu	37	19	11917376	11917376	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr19:11917376G>A	ENST00000323169.5	+	3	939	c.608G>A	c.(607-609)cGc>cAc	p.R203H	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AGTTCCTTTCGCAGACATGAA	0.438																																						ENST00000323169.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						c.(607-609)cGc>cAc		zinc finger protein 491							55.0	55.0	55.0					19																	11917376		2203	4300	6503	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917376G>A	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.608G>A	19.37:g.11917376G>A	ENSP00000313443:p.Arg203His					ZNF491_ENST00000492230.1_Intron	p.R203H	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN			3	939	+			203					Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.608G>A	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	1.956	-0.440106	0.04636	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.00792	5.69	0.892	-0.203	0.13204	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00754	0.0025	L	0.43646	1.37	0.09310	N	1	D	0.69078	0.997	B	0.40982	0.345	T	0.50915	-0.8771	9	0.52906	T	0.07	.	1.8977	0.03261	0.417:0.0:0.3131:0.2699	.	203	Q8N8L2	ZN491_HUMAN	H	203	ENSP00000313443:R203H	ENSP00000313443:R203H	R	+	2	0	ZNF491	11778376	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-1.506000	0.02271	-0.041000	0.13558	0.407000	0.27541	CGC		0.438	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		13	29	0	0	0	1	0	13	29				
USP15	9958	broad.mit.edu	37	12	62749120	62749120	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr12:62749120A>G	ENST00000280377.5	+	8	837	c.779A>G	c.(778-780)aAc>aGc	p.N260S	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.N235S|USP15_ENST00000353364.3_Missense_Mutation_p.N231S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	260					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGTGTGAAAAACTCAAATTAC	0.333																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(778-780)aAc>aGc		ubiquitin specific peptidase 15							63.0	63.0	63.0					12																	62749120		2203	4298	6501	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62749120A>G	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.779A>G	12.37:g.62749120A>G	ENSP00000280377:p.Asn260Ser					USP15_ENST00000393654.3_Missense_Mutation_p.N235S|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.N231S	p.N260S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	8	837	+			260					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.779A>G	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.306388	0.23736	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.19250	2.16;2.23;2.17	5.45	5.45	0.79879	.	0.106321	0.64402	D	0.000007	T	0.24509	0.0594	M	0.61703	1.905	0.58432	D	0.999996	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.03184	-1.1063	9	.	.	.	-12.7105	15.5204	0.75862	1.0:0.0:0.0:0.0	.	260;231	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	S	231;260;235	ENSP00000258123:N231S;ENSP00000280377:N260S;ENSP00000377264:N235S	.	N	+	2	0	USP15	61035387	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.434000	0.90294	2.077000	0.62373	0.455000	0.32223	AAC		0.333	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		10	32	0	0	0	1	0	10	32				
FAM13C	220965	broad.mit.edu	37	10	61083855	61083855	+	Silent	SNP	A	A	G			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr10:61083855A>G	ENST00000373868.2	-	4	423	c.336T>C	c.(334-336)caT>caC	p.H112H	FAM13C_ENST00000435852.2_Silent_p.H112H|FAM13C_ENST00000373867.3_Silent_p.H29H|FAM13C_ENST00000422313.2_Silent_p.H112H|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000442566.3_Silent_p.H112H|FAM13C_ENST00000468840.2_Silent_p.H29H|FAM13C_ENST00000277705.6_Silent_p.H112H|FAM13C_ENST00000419214.2_Silent_p.H112H	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	112										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGATACCACATGCTCTGTCT	0.493																																						ENST00000373867.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(85-87)caT>caC		family with sequence similarity 13, member C							301.0	267.0	279.0					10																	61083855		2203	4300	6503	SO:0001819	synonymous_variant	220965							g.chr10:61083855A>G	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.336T>C	10.37:g.61083855A>G						FAM13C_ENST00000422313.2_Silent_p.H112H|FAM13C_ENST00000373868.2_Silent_p.H112H|FAM13C_ENST00000442566.3_Silent_p.H112H|FAM13C_ENST00000435852.2_Silent_p.H112H|FAM13C_ENST00000468840.2_Silent_p.H29H|FAM13C_ENST00000419214.2_Silent_p.H112H|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000277705.6_Silent_p.H112H	p.H29H	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN			5	552	-			112					B7ZB77|Q5T631|Q6P2M3|Q99787	Silent	SNP	ENST00000373868.2	37	c.87T>C	CCDS7255.1																																																																																				0.493	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			5	145	0	0	0	1	0	5	145				
ZNF512B	57473	broad.mit.edu	37	20	62626273	62626273	+	Intron	SNP	A	A	G			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr20:62626273A>G	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.K148R			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTCCAGAGGAAGTTGGCAGAA	0.517																																						ENST00000535781.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(442-444)aAg>aGg		pre-mRNA processing factor 6							71.0	75.0	74.0					20																	62626273		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62626273A>G	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-26965T>C	20.37:g.62626273A>G						ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron	p.K148R			O94906	PRP6_HUMAN			5	554	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		148					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.443A>G	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238230	0.79800	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.77877	-1.13;-1.13	5.71	5.71	0.89125	PRP1 splicing factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72859	0.3513	L	0.54323	1.7	0.80722	D	1	B;P	0.37141	0.14;0.584	B;B	0.33960	0.077;0.173	T	0.72144	-0.4379	10	0.31617	T	0.26	.	15.988	0.80176	1.0:0.0:0.0:0.0	.	148;148	O94906-2;O94906	.;PRP6_HUMAN	R	148	ENSP00000266079:K148R;ENSP00000446216:K148R	ENSP00000266079:K148R	K	+	2	0	PRPF6	62096717	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.254000	0.95512	2.188000	0.69820	0.533000	0.62120	AAG		0.517	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		3	32	0	0	0	1	0	3	32				
COG7	91949	broad.mit.edu	37	16	23400369	23400369	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr16:23400369G>A	ENST00000307149.5	-	17	2370	c.2185C>T	c.(2185-2187)Ccg>Tcg	p.P729S	COG7_ENST00000569635.1_5'Flank	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	729					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GTGCGGGACGGCTGCAGGCCC	0.622																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(2185-2187)Ccg>Tcg		component of oligomeric golgi complex 7							70.0	57.0	61.0					16																	23400369		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23400369G>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.2185C>T	16.37:g.23400369G>A	ENSP00000305442:p.Pro729Ser						p.P729S	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	17	2370	-			729					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.2185C>T	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013735	0.54468	.	.	ENSG00000168434	ENST00000307149	T	0.42131	0.98	4.93	4.93	0.64822	.	0.050474	0.85682	D	0.000000	T	0.58293	0.2112	L	0.59436	1.845	0.58432	D	0.999999	D	0.61697	0.99	P	0.61533	0.89	T	0.57027	-0.7881	10	0.41790	T	0.15	-31.8218	17.4999	0.87728	0.0:0.0:1.0:0.0	.	729	P83436	COG7_HUMAN	S	729	ENSP00000305442:P729S	ENSP00000305442:P729S	P	-	1	0	COG7	23307870	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	5.164000	0.64954	2.450000	0.82876	0.561000	0.74099	CCG		0.622	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			3	43	0	0	0	1	0	3	43				
KCNH5	27133	broad.mit.edu	37	14	63246575	63246575	+	Silent	SNP	G	G	A			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr14:63246575G>A	ENST00000322893.7	-	10	2158	c.1890C>T	c.(1888-1890)gtC>gtT	p.V630V	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Silent_p.V572V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	630					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCAGTGCCCGGACGTTCGCAC	0.453																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1888-1890)gtC>gtT		potassium voltage-gated channel, subfamily H (eag-related), member 5							111.0	99.0	103.0					14																	63246575		2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63246575G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1890C>T	14.37:g.63246575G>A						KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Silent_p.V572V	p.V630V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	10	2158	-			630					C9JP98	Silent	SNP	ENST00000322893.7	37	c.1890C>T	CCDS9756.1																																																																																				0.453	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		3	48	0	0	0	1	0	3	48				
CSTF1	1477	broad.mit.edu	37	20	54970613	54970613	+	Missense_Mutation	SNP	A	A	T			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr20:54970613A>T	ENST00000217109.4	+	2	357	c.5A>T	c.(4-6)tAc>tTc	p.Y2F	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	2					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TCCAAGATGTACAGAACCAAA	0.493																																						ENST00000217109.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15						c.(4-6)tAc>tTc		cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa							56.0	47.0	50.0					20																	54970613		2203	4300	6503	SO:0001583	missense	1477				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr20:54970613A>T		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"""WD repeat domain containing"""	2483	protein-coding gene	gene with protein product		600369	"""cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"""			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.5A>T	20.37:g.54970613A>T	ENSP00000217109:p.Tyr2Phe					CSTF1_ENST00000493039.1_3'UTR	p.Y2F	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		2	357	+			2					Q5QPD8	Missense_Mutation	SNP	ENST00000217109.4	37	c.5A>T	CCDS13452.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.777995	0.31502	.	.	ENSG00000101138	ENST00000415828;ENST00000217109;ENST00000428552;ENST00000425890;ENST00000452950	T;T;T	0.57752	0.38;0.42;0.38	5.27	5.27	0.74061	.	0.169544	0.53938	D	0.000046	T	0.27489	0.0675	N	0.02011	-0.69	0.43803	D	0.996352	B	0.02656	0.0	B	0.04013	0.001	T	0.12091	-1.0561	10	0.22109	T	0.4	-0.7535	15.4889	0.75590	1.0:0.0:0.0:0.0	.	2	Q05048	CSTF1_HUMAN	F	2	ENSP00000387968:Y2F;ENSP00000217109:Y2F;ENSP00000409035:Y2F	ENSP00000217109:Y2F	Y	+	2	0	CSTF1	54404020	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.853000	0.55941	2.116000	0.64780	0.482000	0.46254	TAC		0.493	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521		3	28	0	0	0	1	0	3	28				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	58	0	0	0	1	0	4	58				
ZNF823	55552	broad.mit.edu	37	19	11833345	11833345	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr19:11833345T>C	ENST00000341191.6	-	4	1157	c.1004A>G	c.(1003-1005)aAg>aGg	p.K335R	ZNF823_ENST00000545749.1_Missense_Mutation_p.K153R	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CCCACATATCTTACATTTATG	0.418										HNSCC(68;0.2)																												ENST00000341191.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						c.(1003-1005)aAg>aGg		zinc finger protein 823							143.0	137.0	139.0					19																	11833345		2203	4300	6503	SO:0001583	missense	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11833345T>C	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1004A>G	19.37:g.11833345T>C	ENSP00000340683:p.Lys335Arg	HNSCC(68;0.2)				ZNF823_ENST00000545749.1_Missense_Mutation_p.K153R	p.K335R	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN			4	1157	-			335					A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	c.1004A>G	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	t	15.98	2.994023	0.54041	.	.	ENSG00000197933	ENST00000545749;ENST00000341191;ENST00000431998	T;T;T	0.07688	3.17;3.17;3.17	0.632	-0.803	0.10886	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09291	0.0229	N	0.12746	0.255	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.24297	-1.0164	9	0.62326	D	0.03	.	0.0787	0.00029	0.2359:0.2132:0.2363:0.3146	.	335	P16415	ZN823_HUMAN	R	153;335;291	ENSP00000440162:K153R;ENSP00000340683:K335R;ENSP00000410654:K291R	ENSP00000340683:K335R	K	-	2	0	ZNF823	11694345	0.000000	0.05858	0.002000	0.10522	0.902000	0.53008	-2.944000	0.00681	-0.373000	0.07979	0.248000	0.18094	AAG		0.418	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		51	66	0	0	0	1	0	51	66				
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Deletion - Frameshift(2)	p.P6fs*27(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(16-18)cfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs						p.P6fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	236_237	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		7	6						7	6	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	lincRNA	DEL	CCA	CCA	-	rs28552466|rs61625886|rs374710813	byFrequency	TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr1:121137791_121137793delCCA	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							ATTTCGCCCTCCACCGCCGCCGC	0.631																																						ENST00000437515.1																			0																																																			100873165							g.chr1:121137791_121137793delCCA																													1.37:g.121137791_121137793delCCA														0	329	-									RNA	DEL	ENST00000417218.1	37																																																																																						0.631	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			6	6						6	6	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-	rs368798001		TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr2:96992793_96992795delGAG	ENST00000439118.2	+	3	675_677	c.424_426delGAG	c.(424-426)gagdel	p.E147del	ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000361124.4_In_Frame_Del_p.E155del	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(448-450)del		inositol 1,4,5-trisphosphate receptor interacting protein-like 1																																				SO:0001651	inframe_deletion	150771					integral to membrane		g.chr2:96992793_96992795delGAG		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.424_426delGAG	2.37:g.96992802_96992804delGAG	ENSP00000389308:p.Glu147del					ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del	p.E155del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	859_861	+			147					F5H1L8|Q8NE61	In_Frame_Del	DEL	ENST00000439118.2	37	c.448_450delGAG	CCDS46360.1																																																																																				0.532	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		7	59						7	59	---	---	---	---
SATB1	6304	broad.mit.edu	37	3	18391140	18391160	+	In_Frame_Del	DEL	TGCTGCTGCTGCTGTTGCTGT	TGCTGCTGCTGCTGTTGCTGT	-			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr3:18391140_18391160delTGCTGCTGCTGCTGTTGCTGT	ENST00000338745.6	-	11	3528_3548	c.1794_1814delACAGCAACAGCAGCAGCAGCA	c.(1792-1815)caacagcaacagcagcagcagcag>cag	p.598_605QQQQQQQQ>Q	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_In_Frame_Del_p.630_637QQQQQQQQ>Q|SATB1_ENST00000454909.2_In_Frame_Del_p.598_605QQQQQQQQ>Q	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	598	Poly-Gln.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGCctgctgctgctgctgctgctgttgctgttgctgctgct	0.597																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1792-1815)cag>ca		SATB homeobox 1																																				SO:0001651	inframe_deletion	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18391140_18391160delTGCTGCTGCTGCTGTTGCTGT		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1794_1814delACAGCAACAGCAGCAGCAGCA	3.37:g.18391140_18391160delTGCTGCTGCTGCTGTTGCTGT	ENSP00000341024:p.Gln598_Gln604del					SATB1_ENST00000454909.2_In_Frame_Del_p.QQQQQQQQ598del|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_In_Frame_Del_p.QQQQQQQQ630del	p.QQQQQQQQ598del	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			11	3528_3548	-			598			Poly-Gln.		B3KXF1|C9JTR6|Q59EQ0	In_Frame_Del	DEL	ENST00000338745.6	37	c.1794_1814delACAGCAACAGCAGCAGCAGCA	CCDS2631.1																																																																																				0.597	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		5	9						5	9	---	---	---	---
