#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
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		AGTACTGGAAGAACGTGGTTG	0.373																																						ENST00000400153.2																			0																																																			339005							g.chr15:23205094G>A	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205094G>A								NR_003521.1						0	760	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.373	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		4	23	0	0	0	1	0	4	23				
DSPP	1834	broad.mit.edu	37	4	88535050	88535050	+	Silent	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr4:88535050C>T	ENST00000282478.7	+	4	1269	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.G412G			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	412					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TGGGCAAAGGCAATGTCAAGA	0.443																																						ENST00000399271.1																			0				breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1234-1236)ggC>ggT		dentin sialophosphoprotein							150.0	137.0	141.0					4																	88535050		1959	4152	6111	SO:0001819	synonymous_variant	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88535050C>T	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1236C>T	4.37:g.88535050C>T						RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Silent_p.G412G	p.G412G	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	5	1356	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	412					A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	c.1236C>T	CCDS43248.1																																																																																				0.443	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		11	65	0	0	0	1	0	11	65				
PTGDR	5729	broad.mit.edu	37	14	52735009	52735009	+	Silent	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr14:52735009C>T	ENST00000306051.2	+	1	579	c.477C>T	c.(475-477)ttC>ttT	p.F159F	PTGDR_ENST00000553372.1_Silent_p.F159F	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	159					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TGAGCGCCTTCTCCCTGGCTT	0.637																																						ENST00000306051.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(475-477)ttC>ttT		prostaglandin D2 receptor (DP)	Nedocromil(DB00716)						74.0	75.0	74.0					14																	52735009		2203	4300	6503	SO:0001819	synonymous_variant	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52735009C>T	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.477C>T	14.37:g.52735009C>T						PTGDR_ENST00000553372.1_Silent_p.F159F	p.F159F	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN			1	579	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		159					G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	ENST00000306051.2	37	c.477C>T	CCDS9707.1																																																																																				0.637	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		4	108	0	0	0	1	0	4	108				
ATP8B1	5205	broad.mit.edu	37	18	55368320	55368320	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr18:55368320T>C	ENST00000283684.4	-	5	504	c.505A>G	c.(505-507)Atg>Gtg	p.M169V	ATP8B1_ENST00000536015.1_Missense_Mutation_p.M169V|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000589147.1_5'UTR|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	169					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCCTTATCCATTTTATGGCGA	0.393																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(505-507)Atg>Gtg		ATPase, aminophospholipid transporter, class I, type 8B, member 1							203.0	174.0	184.0					18																	55368320		2203	4300	6503	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55368320T>C	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.505A>G	18.37:g.55368320T>C	ENSP00000283684:p.Met169Val					RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.M169V|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000589147.1_5'UTR	p.M169V	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			6	624	-		Colorectal(73;0.229)	169					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.505A>G	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	T	16.30	3.085247	0.55861	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.75821	-0.97;-0.97	5.43	5.43	0.79202	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	T	0.69753	0.3146	L	0.39397	1.21	0.50171	D	0.999856	B	0.18310	0.027	B	0.27715	0.082	T	0.68254	-0.5457	10	0.72032	D	0.01	.	15.4246	0.75041	0.0:0.0:0.0:1.0	.	169	O43520	AT8B1_HUMAN	V	169	ENSP00000283684:M169V;ENSP00000445359:M169V	ENSP00000283684:M169V	M	-	1	0	ATP8B1	53519318	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.633000	0.83260	2.184000	0.69523	0.460000	0.39030	ATG		0.393	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		27	121	0	0	0	1	0	27	121				
TP53	7157	broad.mit.edu	37	17	7579592	7579592	+	Splice_Site	SNP	T	T	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr17:7579592T>A	ENST00000269305.4	-	4	286		c.e4-2		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|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)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAAGGGGGACTGTAGATGGGT	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		25	Unknown(15)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)	lung(8)|liver(4)|bone(4)|central_nervous_system(3)|upper_aerodigestive_tract(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e4-2	Other conserved DNA damage response genes	tumor protein p53							139.0	135.0	137.0					17																	7579592		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579592T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.97-2A>T	17.37:g.7579592T>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	229	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	8.950	0.967875	0.18659	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.59	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.45005	D	0.998021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8383	0.35126	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520317	0.924000	0.31332	0.022000	0.16811	0.019000	0.09904	1.202000	0.32271	1.873000	0.54277	0.459000	0.35465	.		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	6	232	0	0	0	1	0	6	232				
CD1E	913	broad.mit.edu	37	1	158326628	158326628	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr1:158326628C>T	ENST00000368167.3	+	6	1348	c.1109C>T	c.(1108-1110)tCg>tTg	p.S370L	CD1E_ENST00000368157.1_Missense_Mutation_p.S114L|CD1E_ENST00000368160.3_Missense_Mutation_p.S358L|CD1E_ENST00000452291.2_Missense_Mutation_p.S181L|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368166.3_Missense_Mutation_p.S169L|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368154.1_Missense_Mutation_p.S126L|CD1E_ENST00000368155.3_Missense_Mutation_p.S213L|CD1E_ENST00000368156.1_Missense_Mutation_p.S268L|CD1E_ENST00000444681.2_Missense_Mutation_p.S271L|CD1E_ENST00000368163.3_Missense_Mutation_p.S303L|CD1E_ENST00000368165.3_Missense_Mutation_p.S280L	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	370					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCACAAGTATCGTGGATCAAA	0.438																																						ENST00000444681.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(811-813)tCg>tTg		CD1e molecule							117.0	112.0	114.0					1																	158326628		1916	4132	6048	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158326628C>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.1109C>T	1.37:g.158326628C>T	ENSP00000357149:p.Ser370Leu					CD1E_ENST00000368155.3_Missense_Mutation_p.S213L|CD1E_ENST00000368154.1_Missense_Mutation_p.S126L|CD1E_ENST00000368157.1_Missense_Mutation_p.S114L|CD1E_ENST00000368166.3_Missense_Mutation_p.S169L|CD1E_ENST00000368163.3_Missense_Mutation_p.S303L|CD1E_ENST00000368167.3_Missense_Mutation_p.S370L|CD1E_ENST00000368165.3_Missense_Mutation_p.S280L|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368160.3_Missense_Mutation_p.S358L|CD1E_ENST00000452291.2_Missense_Mutation_p.S181L|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368156.1_Missense_Mutation_p.S268L	p.S271L	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN			5	1105	+	all_hematologic(112;0.0378)		370			Ig-like.		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.812C>T	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	C	3.729	-0.055889	0.07362	.	.	ENSG00000158488	ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368157;ENST00000368160;ENST00000368156;ENST00000368155;ENST00000368154	T;T;T;T;T;T;T;T;T;T;T	0.57436	4.93;4.39;3.07;3.07;3.23;2.69;0.4;4.45;3.2;2.88;0.42	4.76	-2.0	0.07433	.	0.740477	0.11134	N	0.596020	T	0.24353	0.0590	N	0.12746	0.255	0.09310	N	1	B;B;B;B;B;B;B;D;B;B	0.76494	0.02;0.08;0.01;0.007;0.015;0.009;0.034;0.999;0.227;0.001	B;B;B;B;B;B;B;D;B;B	0.71870	0.006;0.008;0.007;0.002;0.006;0.002;0.013;0.975;0.073;0.002	T	0.15809	-1.0424	10	0.15066	T	0.55	-0.7416	5.164	0.15075	0.0:0.3828:0.1496:0.4676	.	271;280;213;169;358;370;181;126;268;303	E7EP01;P15812-5;P15812-7;P15812-9;P15812-2;P15812;P15812-8;P15812-11;P15812-6;P15812-4	.;.;.;.;.;CD1E_HUMAN;.;.;.;.	L	271;370;181;280;169;303;114;358;268;213;126	ENSP00000402906:S271L;ENSP00000357149:S370L;ENSP00000416228:S181L;ENSP00000357147:S280L;ENSP00000357148:S169L;ENSP00000357145:S303L;ENSP00000357139:S114L;ENSP00000357142:S358L;ENSP00000357138:S268L;ENSP00000357137:S213L;ENSP00000357136:S126L	ENSP00000357136:S126L	S	+	2	0	CD1E	156593252	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.891000	0.01611	-0.614000	0.05687	-0.782000	0.03352	TCG		0.438	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		10	112	0	0	0	1	0	10	112				
IGSF11	152404	broad.mit.edu	37	3	118624539	118624539	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr3:118624539G>A	ENST00000393775.2	-	5	912	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	IGSF11_ENST00000425327.2_Missense_Mutation_p.R202W|IGSF11_ENST00000491903.1_Missense_Mutation_p.R203W|IGSF11_ENST00000489689.1_Missense_Mutation_p.R203W|IGSF11_ENST00000441144.2_Missense_Mutation_p.R202W|IGSF11_ENST00000354673.2_Missense_Mutation_p.R202W	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	203	Ig-like C2-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R202W(2)|p.R203W(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGATGTTCCGGATGGTGACT	0.473																																						ENST00000354673.2																			3	Substitution - Missense(3)	p.R202W(2)|p.R203W(1)	breast(2)|large_intestine(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(604-606)Cgg>Tgg		immunoglobulin superfamily, member 11							108.0	104.0	105.0					3																	118624539		2203	4300	6503	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118624539G>A	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.607C>T	3.37:g.118624539G>A	ENSP00000377370:p.Arg203Trp					IGSF11_ENST00000491903.1_Missense_Mutation_p.R203W|IGSF11_ENST00000425327.2_Missense_Mutation_p.R202W|IGSF11_ENST00000441144.2_Missense_Mutation_p.R202W|IGSF11_ENST00000489689.1_Missense_Mutation_p.R203W|IGSF11_ENST00000393775.2_Missense_Mutation_p.R203W	p.R202W	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN			7	984	-			203			Ig-like C2-type.		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.604C>T	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958571	0.74016	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;T	0.84298	3.99;3.99;-1.83;3.99;-1.79;3.99	5.22	4.35	0.52113	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.158514	0.53938	N	0.000045	D	0.88451	0.6440	L	0.56199	1.76	0.44295	D	0.997164	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.71656	0.962;0.96;0.941;0.962;0.974	D	0.88339	0.2973	10	0.72032	D	0.01	.	8.1314	0.31029	0.0761:0.0:0.6718:0.252	.	203;202;202;203;203	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	W	202;203;203;202;202;203	ENSP00000406092:R202W;ENSP00000377370:R203W;ENSP00000420486:R203W;ENSP00000346700:R202W;ENSP00000401240:R202W;ENSP00000417413:R203W	ENSP00000346700:R202W	R	-	1	2	IGSF11	120107229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.290000	0.59019	1.573000	0.49748	0.655000	0.94253	CGG		0.473	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			13	65	0	0	0	1	0	13	65				
WHAMMP3	339005	broad.mit.edu	37	15	23205098	23205098	+	RNA	SNP	G	G	A	rs146035894	byFrequency	TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr15:23205098G>A	ENST00000400153.2	-	0	756					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		CTGGAAGAACGTGGTTGCCAC	0.373													a|||	60	0.0119808	0.0401	0.0043	5008	,	,		17673	0.002		0.001	False		,,,				2504	0.001					ENST00000400153.2																			0																																																			339005							g.chr15:23205098G>A	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205098G>A								NR_003521.1						0	756	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.373	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		4	23	0	0	0	1	0	4	23				
SLC16A4	9122	broad.mit.edu	37	1	110931878	110931878	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr1:110931878A>G	ENST00000369779.4	-	2	317	c.68T>C	c.(67-69)aTt>aCt	p.I23T	SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000369781.4_Missense_Mutation_p.I23T|SLC16A4_ENST00000541986.1_Silent_p.D5D|SLC16A4_ENST00000472422.2_Missense_Mutation_p.I23T|SLC16A4_ENST00000437429.2_Silent_p.D5D|LAMTOR5-AS1_ENST00000590413.1_RNA	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	23					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	ATGAATCACAATCATCCATCC	0.448																																						ENST00000369779.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16						c.(67-69)aTt>aCt		solute carrier family 16, member 4	Pyruvic acid(DB00119)						180.0	172.0	175.0					1																	110931878		2203	4300	6503	SO:0001583	missense	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110931878A>G	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.68T>C	1.37:g.110931878A>G	ENSP00000358794:p.Ile23Thr					SLC16A4_ENST00000541986.1_Silent_p.D5D|SLC16A4_ENST00000369781.4_Missense_Mutation_p.I23T|SLC16A4_ENST00000437429.2_Silent_p.D5D|SLC16A4_ENST00000472422.2_Missense_Mutation_p.I23T|SLC16A4_ENST00000497687.1_5'UTR|LAMTOR5-AS1_ENST00000590413.1_RNA	p.I23T	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	2	317	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	23					A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	c.68T>C	CCDS823.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.045198	0.36085	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000369781	T;T;T	0.80909	-1.43;-1.43;0.2	4.86	3.7	0.42460	Major facilitator superfamily domain, general substrate transporter (1);	0.517714	0.19063	N	0.123717	T	0.81192	0.4771	M	0.86343	2.81	0.80722	D	1	P;B;P	0.45011	0.848;0.262;0.469	P;B;B	0.51193	0.662;0.185;0.118	T	0.82043	-0.0653	10	0.87932	D	0	.	7.6914	0.28569	0.8244:0.0:0.1756:0.0	.	23;23;23	G3V175;Q8WU09;O15374	.;.;MOT5_HUMAN	T	23	ENSP00000358794:I23T;ENSP00000432495:I23T;ENSP00000358796:I23T	ENSP00000358794:I23T	I	-	2	0	SLC16A4	110733401	0.476000	0.25901	0.321000	0.25320	0.968000	0.65278	4.142000	0.58044	0.670000	0.31165	0.379000	0.24179	ATT		0.448	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		26	140	0	0	0	1	0	26	140				
WDR83	84292	broad.mit.edu	37	19	12781579	12781579	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr19:12781579T>A	ENST00000418543.3	+	7	799	c.450T>A	c.(448-450)gaT>gaA	p.D150E	WDR83OS_ENST00000222190.5_5'Flank|WDR83OS_ENST00000600694.1_5'UTR|WDR83OS_ENST00000596731.1_5'UTR|CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83_ENST00000242796.4_Missense_Mutation_p.D150E	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	150					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						AGACGCTGGATGAGGCCAGAG	0.607																																						ENST00000418543.3																			0				breast(2)|large_intestine(1)|lung(1)	4						c.(448-450)gaT>gaA		WD repeat domain 83							80.0	71.0	74.0					19																	12781579		2203	4300	6503	SO:0001583	missense	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12781579T>A	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.450T>A	19.37:g.12781579T>A	ENSP00000402653:p.Asp150Glu					WDR83OS_ENST00000596731.1_5'UTR|WDR83OS_ENST00000600694.1_5'UTR|WDR83_ENST00000242796.4_Missense_Mutation_p.D150E	p.D150E	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN			7	799	+			150					B2RAF1|Q53FT6	Missense_Mutation	SNP	ENST00000418543.3	37	c.450T>A	CCDS12275.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.12|17.12	3.308863|3.308863	0.60305|0.60305	.|.	.|.	ENSG00000123154|ENSG00000123154	ENST00000418543;ENST00000242796|ENST00000547797	T;T|.	0.80566|.	-1.39;-1.39|.	5.21|5.21	-0.995|-0.995	0.10222|0.10222	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.31734|0.31734	0.0806|0.0806	N|N	0.17901|0.17901	0.54|0.54	0.44345|0.44345	D|D	0.997238|0.997238	B|.	0.33857|.	0.429|.	B|.	0.24006|.	0.05|.	T|T	0.18429|0.18429	-1.0337|-1.0337	10|6	0.20519|0.05959	T|T	0.43|0.93	.|.	10.1524|10.1524	0.42803|0.42803	0.0:0.3238:0.0:0.6762|0.0:0.3238:0.0:0.6762	.|.	150|.	Q9BRX9|.	WDR83_HUMAN|.	E|K	150|53	ENSP00000402653:D150E;ENSP00000242796:D150E|.	ENSP00000242796:D150E|ENSP00000448331:M145K	D|M	+|+	3|2	2|0	WDR83|WDR83	12642579|12642579	0.352000|0.352000	0.24895|0.24895	0.969000|0.969000	0.41365|0.41365	0.944000|0.944000	0.59088|0.59088	-0.464000|-0.464000	0.06688|0.06688	-0.446000|-0.446000	0.07149|0.07149	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.607	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332		5	33	0	0	0	1	0	5	33				
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GTGGTTGCCACGGTAACTAAT	0.393																																						ENST00000400153.2																			0																																																			339005							g.chr15:23205108C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205108C>T								NR_003521.1						0	746	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.393	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		4	22	0	0	0	1	0	4	22				
HDAC5	10014	broad.mit.edu	37	17	42156002	42156002	+	Silent	SNP	G	G	A	rs200613631		TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr17:42156002G>A	ENST00000393622.2	-	26	3526	c.3195C>T	c.(3193-3195)gcC>gcT	p.A1065A	HDAC5_ENST00000586802.1_Silent_p.A1065A|HDAC5_ENST00000336057.5_Silent_p.A980A|HDAC5_ENST00000225983.6_Silent_p.A1066A	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	1065					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCAGACCAGCGGCGAACTTCT	0.657													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16944	0.0		0.0	False		,,,				2504	0.0					ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(3196-3198)gcC>gcT		histone deacetylase 5							136.0	145.0	142.0					17																	42156002		2203	4300	6503	SO:0001819	synonymous_variant	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42156002G>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.3195C>T	17.37:g.42156002G>A						HDAC5_ENST00000336057.5_Silent_p.A980A|HDAC5_ENST00000393622.2_Silent_p.A1065A|HDAC5_ENST00000586802.1_Silent_p.A1065A	p.A1066A			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	26	3521	-		Breast(137;0.00637)|Prostate(33;0.0313)	1065					C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	ENST00000393622.2	37	c.3198C>T	CCDS45696.1																																																																																				0.657	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		30	253	0	0	0	1	0	30	253				
ANK1	286	broad.mit.edu	37	8	41550269	41550269	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr8:41550269C>T	ENST00000347528.4	-	31	3838	c.3755G>A	c.(3754-3756)cGa>cAa	p.R1252Q	ANK1_ENST00000289734.7_Missense_Mutation_p.R1252Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R1293Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R1252Q|ANK1_ENST00000396942.1_Missense_Mutation_p.R1252Q|ANK1_ENST00000379758.2_Missense_Mutation_p.R1252Q|ANK1_ENST00000396945.1_Missense_Mutation_p.R1252Q	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1252	UPA domain. {ECO:0000250}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGCCCCTCTCGGGGGTCATT	0.552																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(3754-3756)cGa>cAa		ankyrin 1, erythrocytic							156.0	182.0	174.0					8																	41550269		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41550269C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3755G>A	8.37:g.41550269C>T	ENSP00000339620:p.Arg1252Gln					ANK1_ENST00000396945.1_Missense_Mutation_p.R1252Q|ANK1_ENST00000379758.2_Missense_Mutation_p.R1252Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R1252Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R1293Q|ANK1_ENST00000347528.4_Missense_Mutation_p.R1252Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R1252Q	p.R1252Q			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		31	3838	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1252					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.3755G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152392	0.78001	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95	4.26	4.26	0.50523	.	0.142736	0.47852	D	0.000212	T	0.31136	0.0787	L	0.43152	1.355	0.58432	D	0.999996	P;D;D;D;P;P	0.71674	0.939;0.981;0.998;0.992;0.939;0.726	P;B;P;P;P;B	0.53035	0.657;0.324;0.716;0.507;0.657;0.094	T	0.07578	-1.0765	10	0.59425	D	0.04	.	17.2705	0.87101	0.0:1.0:0.0:0.0	.	1293;1252;1252;1252;1252;568	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	Q	1252;1252;1252;1252;1252;1252;1293;1252	ENSP00000339620:R1252Q;ENSP00000289734:R1252Q;ENSP00000369082:R1252Q;ENSP00000380149:R1252Q;ENSP00000380147:R1252Q;ENSP00000309131:R1252Q;ENSP00000265709:R1293Q	ENSP00000265709:R1293Q	R	-	2	0	ANK1	41669426	0.724000	0.28038	1.000000	0.80357	0.995000	0.86356	3.799000	0.55529	2.384000	0.81235	0.467000	0.42956	CGA		0.552	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		9	319	0	0	0	1	0	9	319				
SPEN	23013	broad.mit.edu	37	1	16257187	16257187	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr1:16257187C>A	ENST00000375759.3	+	11	4656	c.4452C>A	c.(4450-4452)gaC>gaA	p.D1484E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1484					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAAGGTTGACTCTGCTCCAA	0.373																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(4450-4452)gaC>gaA		spen family transcriptional repressor							60.0	65.0	63.0					1																	16257187		2202	4299	6501	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16257187C>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4452C>A	1.37:g.16257187C>A	ENSP00000364912:p.Asp1484Glu						p.D1484E	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	4656	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1484					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.4452C>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	8.892	0.954157	0.18431	.	.	ENSG00000065526	ENST00000375759	T	0.08720	3.06	5.27	3.41	0.39046	.	.	.	.	.	T	0.03095	0.0091	N	0.11201	0.11	0.43238	D	0.995149	B	0.34200	0.441	B	0.24848	0.056	T	0.36768	-0.9734	9	0.05436	T	0.98	-20.5147	9.0005	0.36079	0.0:0.7762:0.0:0.2238	.	1484	Q96T58	MINT_HUMAN	E	1484	ENSP00000364912:D1484E	ENSP00000364912:D1484E	D	+	3	2	SPEN	16129774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.753000	0.26376	0.799000	0.34018	0.563000	0.77884	GAC		0.373	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		9	80	1	0	3.86212e-05	1	4.20542e-05	9	80				
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A	rs371682346		TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1				BMS1 pseudogene 20																		CAGACTAAAGGCAAACAAGGA	0.498																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664743G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664743G>A								NR_027293.1						0	924	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	54	0	0	0	1	0	4	54				
COL13A1	1305	broad.mit.edu	37	10	71690203	71690203	+	Silent	SNP	C	C	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr10:71690203C>A	ENST00000398978.3	+	29	2037	c.1545C>A	c.(1543-1545)ggC>ggA	p.G515G	COL13A1_ENST00000398972.3_Silent_p.G515G|COL13A1_ENST00000398969.3_Silent_p.G458G|COL13A1_ENST00000356340.3_Silent_p.G515G|COL13A1_ENST00000354547.3_Silent_p.G493G|COL13A1_ENST00000398964.3_Silent_p.G486G|COL13A1_ENST00000517713.1_Silent_p.G493G|COL13A1_ENST00000398974.3_Silent_p.G503G|COL13A1_ENST00000398966.3_Silent_p.G493G|COL13A1_ENST00000357811.3_Silent_p.G493G|COL13A1_ENST00000522165.1_Silent_p.G496G|COL13A1_ENST00000520267.1_Silent_p.G458G|COL13A1_ENST00000398968.3_Silent_p.G496G|COL13A1_ENST00000398973.3_Silent_p.G515G|COL13A1_ENST00000520133.1_Silent_p.G464G|COL13A1_ENST00000398971.3_Silent_p.G515G	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						GTCCCCAAGGCCCCCCAGGAA	0.552																																						ENST00000356340.3																			0				endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(1543-1545)ggC>ggA		collagen, type XIII, alpha 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						38.0	44.0	42.0					10																	71690203		1872	4095	5967	SO:0001819	synonymous_variant	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71690203C>A	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.1545C>A	10.37:g.71690203C>A						COL13A1_ENST00000520267.1_Silent_p.G458G|COL13A1_ENST00000398969.3_Silent_p.G458G|COL13A1_ENST00000357811.3_Silent_p.G493G|COL13A1_ENST00000398972.3_Silent_p.G515G|COL13A1_ENST00000517713.1_Silent_p.G493G|COL13A1_ENST00000398974.3_Silent_p.G503G|COL13A1_ENST00000398978.3_Silent_p.G515G|COL13A1_ENST00000398966.3_Silent_p.G493G|COL13A1_ENST00000522165.1_Silent_p.G496G|COL13A1_ENST00000398964.3_Silent_p.G486G|COL13A1_ENST00000398973.3_Silent_p.G515G|COL13A1_ENST00000520133.1_Silent_p.G464G|COL13A1_ENST00000398971.3_Silent_p.G515G|COL13A1_ENST00000398968.3_Silent_p.G496G|COL13A1_ENST00000354547.3_Silent_p.G493G	p.G515G			Q5TAT6	CODA1_HUMAN			28	2081	+			515			Triple-helical region 3 (COL3).			Silent	SNP	ENST00000398978.3	37	c.1545C>A	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	C	9.844	1.191768	0.21954	.	.	ENSG00000197467	ENST00000398975	.	.	.	4.75	-3.65	0.04502	.	.	.	.	.	T	0.52224	0.1721	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51293	-0.8724	4	.	.	.	-4.8608	9.4096	0.38482	0.6893:0.1458:0.1649:0.0	.	.	.	.	D	60	.	.	A	+	2	0	COL13A1	71360209	0.006000	0.16342	0.990000	0.47175	0.974000	0.67602	-1.312000	0.02720	-0.504000	0.06577	-0.310000	0.09108	GCC		0.552	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		8	38	1	0	5.18039e-06	1	5.76907e-06	8	38				
DAB2IP	153090	broad.mit.edu	37	9	124528949	124528949	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr9:124528949G>A	ENST00000408936.3	+	9	1819	c.1637G>A	c.(1636-1638)cGc>cAc	p.R546H	DAB2IP_ENST00000309989.1_Missense_Mutation_p.R422H|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R518H			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	546	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTGATGACCGCACTGCCCGC	0.627																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1636-1638)cGc>cAc		DAB2 interacting protein							165.0	146.0	153.0					9																	124528949		2203	4300	6503	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124528949G>A	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1637G>A	9.37:g.124528949G>A	ENSP00000386183:p.Arg546His					DAB2IP_ENST00000259371.2_Missense_Mutation_p.R518H|DAB2IP_ENST00000309989.1_Missense_Mutation_p.R422H	p.R546H			Q5VWQ8	DAB2P_HUMAN			9	1819	+			546			Ras-GAP.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.1637G>A		.	.	.	.	.	.	.	.	.	.	G	25.6	4.659874	0.88154	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.88396	0.6425	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.89826	0.3992	10	0.87932	D	0	.	17.225	0.86967	0.0:0.0:1.0:0.0	.	518	G3XA90	.	H	518;546;455;422	ENSP00000259371:R518H;ENSP00000386183:R546H;ENSP00000362887:R455H;ENSP00000310827:R422H	ENSP00000259371:R518H	R	+	2	0	DAB2IP	123568770	1.000000	0.71417	0.998000	0.56505	0.571000	0.35966	9.813000	0.99286	2.364000	0.80123	0.655000	0.94253	CGC		0.627	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		5	153	0	0	0	1	0	5	153				
AGAP6	414189	broad.mit.edu	37	10	51754179	51754179	+	Missense_Mutation	SNP	G	G	A	rs186742677		TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr10:51754179G>A	ENST00000374056.4	+	3	715	c.317G>A	c.(316-318)tGt>tAt	p.C106Y	AGAP6_ENST00000412531.3_Missense_Mutation_p.C129Y			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	106					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AGAAGCAACTGTACAAACCAT	0.284													G|||	1	0.000199681	0.0	0.0	5008	,	,		14916	0.0		0.001	False		,,,				2504	0.0					ENST00000374056.4																			0				NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(316-318)tGt>tAt		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6							47.0	40.0	42.0					10																	51754179		692	1585	2277	SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51754179G>A		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.317G>A	10.37:g.51754179G>A	ENSP00000363168:p.Cys106Tyr					AGAP6_ENST00000412531.3_Missense_Mutation_p.C129Y	p.C106Y			C9IYN2	C9IYN2_HUMAN			3	715	+			129						Missense_Mutation	SNP	ENST00000374056.4	37	c.317G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.001	-3.240030	0.00022	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	1.7	-1.35	0.09114	.	0.321578	0.27384	N	0.019618	T	0.08313	0.0207	N	0.02916	-0.46	0.21386	N	0.999708	B	0.02656	0.0	B	0.01281	0.0	T	0.22765	-1.0207	9	0.14252	T	0.57	.	2.4115	0.04426	0.5891:0.0:0.1729:0.2379	.	129	C9IYN2	.	Y	129;106	.	ENSP00000363168:C129Y	C	+	2	0	AGAP6	51424185	0.983000	0.35010	0.903000	0.35520	0.242000	0.25591	0.219000	0.17641	-0.307000	0.08804	0.184000	0.17185	TGT		0.284	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		5	148	0	0	0	1	0	5	148				
CHD2	1106	broad.mit.edu	37	15	93518176	93518176	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr15:93518176C>G	ENST00000394196.4	+	20	3641	c.2573C>G	c.(2572-2574)tCt>tGt	p.S858C	CHD2_ENST00000557381.1_Missense_Mutation_p.S858C	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	858	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GCAGATGGGTCTGAGGTATAC	0.413																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(2572-2574)tCt>tGt		chromodomain helicase DNA binding protein 2							136.0	116.0	123.0					15																	93518176		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93518176C>G	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2573C>G	15.37:g.93518176C>G	ENSP00000377747:p.Ser858Cys					CHD2_ENST00000557381.1_Missense_Mutation_p.S858C	p.S858C	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		20	3641	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		858			Helicase C-terminal.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.2573C>G	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889208	0.91889	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.76709	-1.04;-1.04	5.48	5.48	0.80851	Helicase, C-terminal (3);	0.000000	0.33895	U	0.004441	D	0.89921	0.6855	M	0.86420	2.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.91347	0.5101	10	0.87932	D	0	-14.6759	18.3364	0.90290	0.0:1.0:0.0:0.0	.	858;858;858	A8K9Y5;O14647;O14647-2	.;CHD2_HUMAN;.	C	858	ENSP00000377747:S858C;ENSP00000451366:S858C	ENSP00000377747:S858C	S	+	2	0	CHD2	91319180	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.785000	0.85724	2.591000	0.87537	0.478000	0.44815	TCT		0.413	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		14	96	0	0	0	1	0	14	96				
GPR125	166647	broad.mit.edu	37	4	22390104	22390104	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr4:22390104C>A	ENST00000334304.5	-	19	3459	c.3190G>T	c.(3190-3192)Gga>Tga	p.G1064*	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1064					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GAGCTCCGTCCTGGGCAGCAA	0.517																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(3190-3192)Gga>Tga		G protein-coupled receptor 125							88.0	73.0	78.0					4																	22390104		2203	4300	6503	SO:0001587	stop_gained	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390104C>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3190G>T	4.37:g.22390104C>A	ENSP00000334952:p.Gly1064*					GPR125_ENST00000282943.5_5'UTR	p.G1064*	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3459	-		Breast(46;0.198)	1064					Q6UXK9|Q86SQ5|Q8TC55	Nonsense_Mutation	SNP	ENST00000334304.5	37	c.3190G>T	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	44	10.729815	0.99458	.	.	ENSG00000152990	ENST00000334304	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-24.6525	20.3501	0.98811	0.0:1.0:0.0:0.0	.	.	.	.	X	1064	.	ENSP00000334952:G1064X	G	-	1	0	GPR125	21999202	1.000000	0.71417	0.975000	0.42487	0.982000	0.71751	4.609000	0.61148	2.807000	0.96579	0.650000	0.86243	GGA		0.517	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			12	45	1	0	6.40141e-05	1	6.81889e-05	12	45				
SCN11A	11280	broad.mit.edu	37	3	38938441	38938441	+	Silent	SNP	G	G	A	rs202104116		TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr3:38938441G>A	ENST00000302328.3	-	14	2496	c.2298C>T	c.(2296-2298)tgC>tgT	p.C766C	SCN11A_ENST00000450244.1_Silent_p.C766C|SCN11A_ENST00000444237.2_Silent_p.C766C|SCN11A_ENST00000456224.3_Silent_p.C766C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	766					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCATTCCCCGCAGAGGATGC	0.468																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2296-2298)tgC>tgT		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)	G		0,4406		0,0,2203	121.0	110.0	114.0		2298	-3.5	1.0	3		114	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SCN11A	NM_014139.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		766/1792	38938441	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38938441G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2298C>T	3.37:g.38938441G>A						SCN11A_ENST00000444237.2_Silent_p.C766C|SCN11A_ENST00000456224.3_Silent_p.C766C|SCN11A_ENST00000450244.1_Silent_p.C766C	p.C766C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	14	2496	-			766					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	c.2298C>T	CCDS33737.1																																																																																				0.468	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		7	55	0	0	0	1	0	7	55				
ZNF365	22891	broad.mit.edu	37	10	64382885	64382885	+	Intron	SNP	A	A	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr10:64382885A>T	ENST00000395251.1	+	2	150				ZNF365_ENST00000410046.3_Missense_Mutation_p.H335L	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365											breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATAAACCACCATCTTTCGGGG	0.373																																						ENST00000410046.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1003-1005)cAt>cTt		zinc finger protein 365							151.0	152.0	152.0					10																	64382885		2203	4300	6503	SO:0001627	intron_variant	22891							g.chr10:64382885A>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.-184-20617A>T	10.37:g.64382885A>T						ZNF365_ENST00000395251.1_Intron	p.H335L	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN			5	1284	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		152						Missense_Mutation	SNP	ENST00000395251.1	37	c.1004A>T	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.724718	0.30593	.	.	ENSG00000138311	ENST00000410046	.	.	.	3.99	0.104	0.14531	.	1.336540	0.04926	N	0.455866	T	0.34483	0.0899	.	.	.	0.42809	D	0.993954	B	0.06786	0.001	B	0.06405	0.002	T	0.37549	-0.9701	8	0.28530	T	0.3	-21.1024	0.9999	0.01475	0.4954:0.2081:0.1118:0.1848	.	335	Q70YC5-3	.	L	335	.	ENSP00000387091:H335L	H	+	2	0	ZNF365	64052891	0.000000	0.05858	0.529000	0.27951	0.155000	0.21991	0.123000	0.15708	0.007000	0.14760	0.460000	0.39030	CAT		0.373	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		35	239	0	0	0	1	0	35	239				
PPM1A	5494	broad.mit.edu	37	14	60752348	60752348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr14:60752348C>T	ENST00000395076.4	+	3	1271	c.841C>T	c.(841-843)Cga>Tga	p.R281*	PPM1A_ENST00000325642.3_Nonsense_Mutation_p.R354*|PPM1A_ENST00000325658.3_Nonsense_Mutation_p.R281*|PPM1A_ENST00000529574.1_Nonsense_Mutation_p.R281*	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	281					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CCAGGGAAGTCGAGACAACAT	0.398																																						ENST00000395076.4																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(841-843)Cga>Tga		protein phosphatase, Mg2+/Mn2+ dependent, 1A							78.0	76.0	77.0					14																	60752348		2203	4300	6503	SO:0001587	stop_gained	5494				cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr14:60752348C>T	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.841C>T	14.37:g.60752348C>T	ENSP00000378514:p.Arg281*					PPM1A_ENST00000325642.3_Nonsense_Mutation_p.R354*|PPM1A_ENST00000325658.3_Nonsense_Mutation_p.R281*|PPM1A_ENST00000529574.1_Nonsense_Mutation_p.R281*	p.R281*	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	3	1271	+			281					B5BU11|J3KNM0|O75551	Nonsense_Mutation	SNP	ENST00000395076.4	37	c.841C>T	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	C	39	7.829129	0.98513	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3538	15.1221	0.72453	0.1414:0.8586:0.0:0.0	.	.	.	.	X	354;281;281;281	.	ENSP00000327255:R354X	R	+	1	2	PPM1A	59822101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.611000	0.61162	2.885000	0.99019	0.655000	0.94253	CGA		0.398	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003		5	82	0	0	0	1	0	5	82				
CAMSAP3	57662	broad.mit.edu	37	19	7670214	7670214	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr19:7670214A>G	ENST00000160298.4	+	2	352	c.251A>G	c.(250-252)tAc>tGc	p.Y84C	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.Y84C	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	84					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCCGAGCTCTACTGCAGAGCC	0.667																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(250-252)tAc>tGc		calmodulin regulated spectrin-associated protein family, member 3							61.0	70.0	67.0					19																	7670214		1973	4140	6113	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7670214A>G	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.251A>G	19.37:g.7670214A>G	ENSP00000160298:p.Tyr84Cys					CAMSAP3_ENST00000160298.4_Missense_Mutation_p.Y84C	p.Y84C	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			2	352	+			84					Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.251A>G	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	a	21.0	4.084103	0.76642	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.36340	1.48;1.26	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000002	T	0.59905	0.2228	M	0.78344	2.41	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.65483	-0.6157	10	0.87932	D	0	-22.2703	12.6994	0.57022	1.0:0.0:0.0:0.0	.	84;84	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	C	84	ENSP00000416797:Y84C;ENSP00000160298:Y84C	ENSP00000160298:Y84C	Y	+	2	0	KIAA1543	7576214	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.742000	0.68646	1.632000	0.50472	0.391000	0.25812	TAC		0.667	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		23	122	0	0	0	1	0	23	122				
NAV3	89795	broad.mit.edu	37	12	78604218	78604218	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr12:78604218C>T	ENST00000397909.2	+	40	7252	c.7079C>T	c.(7078-7080)tCg>tTg	p.S2360L	NAV3_ENST00000228327.6_Missense_Mutation_p.S2338L|NAV3_ENST00000266692.7_Missense_Mutation_p.S2161L|NAV3_ENST00000536525.2_Missense_Mutation_p.S2338L|NAV3_ENST00000541270.1_Missense_Mutation_p.S190L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2360						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCCAATTACTCGAGCACACAA	0.423										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(7078-7080)tCg>tTg		neuron navigator 3							60.0	62.0	61.0					12																	78604218		1956	4178	6134	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78604218C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.7079C>T	12.37:g.78604218C>T	ENSP00000381007:p.Ser2360Leu	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.S2338L|NAV3_ENST00000541270.1_Missense_Mutation_p.S190L|NAV3_ENST00000228327.6_Missense_Mutation_p.S2338L|NAV3_ENST00000266692.7_Missense_Mutation_p.S2161L	p.S2360L			Q8IVL0	NAV3_HUMAN			40	7252	+			2360					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.7079C>T		.	.	.	.	.	.	.	.	.	.	C	22.5	4.300687	0.81136	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270	T;T;T;T;T	0.48201	1.55;1.55;1.55;1.51;0.82	5.35	4.46	0.54185	.	0.215110	0.23180	U	0.051037	T	0.61337	0.2339	M	0.80028	2.48	0.58432	D	0.999999	P;B;P;B	0.52463	0.953;0.022;0.483;0.002	P;B;B;B	0.51101	0.659;0.004;0.132;0.001	T	0.68546	-0.5380	10	0.87932	D	0	0.1623	14.1778	0.65555	0.0:0.9276:0.0:0.0724	.	2338;2161;2360;2338	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	L	2338;2360;2338;2161;190	ENSP00000446132:S2338L;ENSP00000381007:S2360L;ENSP00000228327:S2338L;ENSP00000266692:S2161L;ENSP00000444918:S190L	ENSP00000228327:S2338L	S	+	2	0	NAV3	77128349	1.000000	0.71417	0.996000	0.52242	0.862000	0.49288	7.625000	0.83145	1.270000	0.44297	-0.150000	0.13652	TCG		0.423	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		13	92	0	0	0	1	0	13	92				
SPATA20	64847	broad.mit.edu	37	17	48628464	48628464	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr17:48628464C>T	ENST00000356488.4	+	11	1524	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.L437F|SPATA20_ENST00000006658.6_Missense_Mutation_p.L497F	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	481					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GCGGACCTTGCTCAATTCAGG	0.637											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000006658.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1489-1491)Ctc>Ttc		spermatogenesis associated 20							37.0	35.0	36.0					17																	48628464		2203	4300	6503	SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48628464C>T		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1441C>T	17.37:g.48628464C>T	ENSP00000348878:p.Leu481Phe		OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	119	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.L437F|SPATA20_ENST00000356488.4_Missense_Mutation_p.L481F	p.L497F	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		12	1609	+	Breast(11;1.23e-18)		481					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.1489C>T	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755007	0.69648	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.49432	0.78;0.78;0.78	5.95	5.95	0.96441	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	L	0.49455	1.56	0.58432	D	0.999999	P;D	0.67145	0.823;0.996	B;D	0.66497	0.414;0.944	T	0.64326	-0.6434	10	0.72032	D	0.01	-17.2051	20.3854	0.98941	0.0:1.0:0.0:0.0	.	481;497	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	F	497;481;437	ENSP00000006658:L497F;ENSP00000348878:L481F;ENSP00000376935:L437F	ENSP00000006658:L497F	L	+	1	0	SPATA20	45983463	1.000000	0.71417	0.920000	0.36463	0.203000	0.24098	3.983000	0.56916	2.825000	0.97269	0.655000	0.94253	CTC		0.637	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		4	43	0	0	0	1	0	4	43				
FSTL5	56884	broad.mit.edu	37	4	163032513	163032513	+	Silent	SNP	T	T	A	rs200605039		TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr4:163032513T>A	ENST00000306100.5	-	2	472	c.36A>T	c.(34-36)ggA>ggT	p.G12G	FSTL5_ENST00000427802.2_Silent_p.G12G|FSTL5_ENST00000536695.1_Silent_p.G12G|FSTL5_ENST00000379164.4_Silent_p.G12G	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	12						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GAAAAATGAATCCGAGAACCA	0.378													T|||	1	0.000199681	0.0	0.0	5008	,	,		14812	0.001		0.0	False		,,,				2504	0.0					ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(34-36)ggA>ggT		follistatin-like 5		T	,,	0,4406		0,0,2203	121.0	115.0	117.0		36,36,36	2.5	1.0	4		117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	FSTL5	NM_001128427.1,NM_001128428.1,NM_020116.3	,,	0,1,6502	AA,AT,TT		0.0116,0.0,0.0077	,,	12/847,12/838,12/848	163032513	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:163032513T>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.36A>T	4.37:g.163032513T>A						FSTL5_ENST00000379164.4_Silent_p.G12G|FSTL5_ENST00000427802.2_Silent_p.G12G|FSTL5_ENST00000536695.1_Silent_p.G12G	p.G12G	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	2	472	-	all_hematologic(180;0.24)		12					E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.36A>T	CCDS3802.1																																																																																				0.378	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		5	70	0	0	0	1	0	5	70				
SAG	6295	broad.mit.edu	37	2	234243614	234243614	+	Silent	SNP	A	A	G			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr2:234243614A>G	ENST00000409110.1	+	11	1043	c.813A>G	c.(811-813)aaA>aaG	p.K271K	SAG_ENST00000449594.2_Silent_p.K137K	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	271					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CTAGAGAAAAAGTGCCACCAA	0.488																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(811-813)aaA>aaG		S-antigen; retina and pineal gland (arrestin)							92.0	97.0	96.0					2																	234243614		2001	4179	6180	SO:0001819	synonymous_variant	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234243614A>G		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.813A>G	2.37:g.234243614A>G						SAG_ENST00000449594.2_Silent_p.K137K	p.K271K	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	11	1043	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	271					A0FDN6|Q53SV3|Q99858	Silent	SNP	ENST00000409110.1	37	c.813A>G	CCDS46545.1																																																																																				0.488	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		16	95	0	0	0	1	0	16	95				
GNA14	9630	broad.mit.edu	37	9	80144052	80144052	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr9:80144052G>A	ENST00000341700.6	-	2	755	c.242C>T	c.(241-243)aCc>aTc	p.T81I	RP11-466A17.1_ENST00000439145.1_RNA	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	81					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TTGCATGGCGGTGAATATGTT	0.453																																						ENST00000341700.6																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						c.(241-243)aCc>aTc		guanine nucleotide binding protein (G protein), alpha 14							386.0	326.0	347.0					9																	80144052		2203	4300	6503	SO:0001583	missense	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80144052G>A	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.242C>T	9.37:g.80144052G>A	ENSP00000365807:p.Thr81Ile						p.T81I	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN			2	755	-			81					B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	c.242C>T	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477103	0.44044	.	.	ENSG00000156049	ENST00000341700	D	0.88664	-2.41	5.92	5.92	0.95590	G protein alpha subunit, helical insertion (2);	0.217897	0.47455	D	0.000234	D	0.89577	0.6755	M	0.69823	2.125	0.48901	D	0.999726	P	0.39326	0.668	B	0.37451	0.25	D	0.90068	0.4161	10	0.87932	D	0	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	81	O95837	GNA14_HUMAN	I	81	ENSP00000365807:T81I	ENSP00000365807:T81I	T	-	2	0	GNA14	79333872	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	5.798000	0.69095	2.828000	0.97474	0.650000	0.86243	ACC		0.453	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			5	321	0	0	0	1	0	5	321				
CHRNA9	55584	broad.mit.edu	37	4	40351422	40351422	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr4:40351422C>T	ENST00000310169.2	+	4	1028	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	297					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	AGAAAATGTGCCCCTGATAGG	0.498																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(889-891)Ccc>Tcc		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						56.0	61.0	59.0					4																	40351422		2202	4297	6499	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40351422C>T	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.889C>T	4.37:g.40351422C>T	ENSP00000312663:p.Pro297Ser						p.P297S	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			4	1028	+			297					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.889C>T	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005901	0.74932	.	.	ENSG00000174343	ENST00000310169	D	0.93859	-3.3	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98107	1.0418	10	0.87932	D	0	.	19.6143	0.95626	0.0:1.0:0.0:0.0	.	297	Q9UGM1	ACHA9_HUMAN	S	297	ENSP00000312663:P297S	ENSP00000312663:P297S	P	+	1	0	CHRNA9	40046179	1.000000	0.71417	0.999000	0.59377	0.555000	0.35460	7.818000	0.86416	2.640000	0.89533	0.561000	0.74099	CCC		0.498	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			4	146	0	0	0	1	0	4	146				
FSTL5	56884	broad.mit.edu	37	4	163032514	163032514	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr4:163032514C>T	ENST00000306100.5	-	2	471	c.35G>A	c.(34-36)gGa>gAa	p.G12E	FSTL5_ENST00000427802.2_Missense_Mutation_p.G12E|FSTL5_ENST00000536695.1_Missense_Mutation_p.G12E|FSTL5_ENST00000379164.4_Missense_Mutation_p.G12E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	12						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAAAATGAATCCGAGAACCAA	0.378																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(34-36)gGa>gAa		follistatin-like 5							118.0	113.0	115.0					4																	163032514		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:163032514C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.35G>A	4.37:g.163032514C>T	ENSP00000305334:p.Gly12Glu					FSTL5_ENST00000379164.4_Missense_Mutation_p.G12E|FSTL5_ENST00000427802.2_Missense_Mutation_p.G12E|FSTL5_ENST00000536695.1_Missense_Mutation_p.G12E	p.G12E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	2	471	-	all_hematologic(180;0.24)		12					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.35G>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083182	0.36758	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.74106	-0.79;-0.79;-0.81;-0.79	5.51	4.65	0.58169	.	0.070264	0.53938	D	0.000044	T	0.74928	0.3781	L	0.40543	1.245	0.30956	N	0.724236	D;D;D	0.57257	0.964;0.979;0.964	P;P;P	0.53518	0.706;0.728;0.538	T	0.77910	-0.2411	10	0.87932	D	0	.	12.571	0.56337	0.0:0.8326:0.1674:0.0	.	12;12;12	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	E	12	ENSP00000305334:G12E;ENSP00000368462:G12E;ENSP00000389270:G12E;ENSP00000440409:G12E	ENSP00000305334:G12E	G	-	2	0	FSTL5	163251964	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	3.364000	0.52328	1.446000	0.47643	-0.291000	0.09656	GGA		0.378	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		5	71	0	0	0	1	0	5	71				
DENND5B	160518	broad.mit.edu	37	12	31604900	31604900	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr12:31604900G>A	ENST00000389082.5	-	5	1867	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000306833.6_Missense_Mutation_p.R570W|DENND5B_ENST00000536562.1_Missense_Mutation_p.R570W|DENND5B_ENST00000354285.4_Missense_Mutation_p.R557W	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	535	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ATCTGTTCCCGGTTGGTCAGC	0.378																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1603-1605)Cgg>Tgg		DENN/MADD domain containing 5B							78.0	77.0	77.0					12																	31604900		1867	4114	5981	SO:0001583	missense	160518					integral to membrane		g.chr12:31604900G>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1603C>T	12.37:g.31604900G>A	ENSP00000373734:p.Arg535Trp					DENND5B_ENST00000306833.6_Missense_Mutation_p.R570W|DENND5B_ENST00000354285.4_Missense_Mutation_p.R557W|DENND5B_ENST00000536562.1_Missense_Mutation_p.R570W	p.R535W	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			5	1867	-			535			dDENN.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1603C>T	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435720	0.62955	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;2.14	4.88	2.88	0.33553	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.63295	0.2499	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.64947	-0.6287	10	0.87932	D	0	-11.9541	7.42	0.27067	0.0:0.1218:0.5039:0.3743	.	457;557;535;570	Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;DEN5B_HUMAN;.	W	535;570;570;557;487	ENSP00000373734:R535W;ENSP00000306482:R570W;ENSP00000444889:R570W;ENSP00000346238:R557W;ENSP00000442938:R487W	ENSP00000306482:R570W	R	-	1	2	DENND5B	31496167	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.780000	0.38634	1.263000	0.44181	0.563000	0.77884	CGG		0.378	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		9	52	0	0	0	1	0	9	52				
KL	9365	broad.mit.edu	37	13	33638061	33638061	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr13:33638061G>T	ENST00000380099.3	+	5	2785	c.2777G>T	c.(2776-2778)gGc>gTc	p.G926V	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	926	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCGAGGTTTGGCCTCTATCGT	0.458																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2776-2778)gGc>gTc		klotho							156.0	153.0	154.0					13																	33638061		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33638061G>T	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2777G>T	13.37:g.33638061G>T	ENSP00000369442:p.Gly926Val					KL_ENST00000487852.1_3'UTR	p.G926V	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	5	2785	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	926			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.2777G>T	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320755	0.81469	.	.	ENSG00000133116	ENST00000380099	D	0.83591	-1.74	5.33	5.33	0.75918	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94361	0.8187	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95956	0.8958	10	0.87932	D	0	-31.3982	19.0196	0.92908	0.0:0.0:1.0:0.0	.	926	Q9UEF7	KLOT_HUMAN	V	926	ENSP00000369442:G926V	ENSP00000369442:G926V	G	+	2	0	KL	32536061	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	9.697000	0.98697	2.484000	0.83849	0.655000	0.94253	GGC		0.458	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			26	148	1	0	3.6726e-16	1	4.18506e-16	26	148				
TTN	7273	broad.mit.edu	37	2	179453918	179453918	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr2:179453918G>A	ENST00000591111.1	-	254	57835	c.57611C>T	c.(57610-57612)aCg>aTg	p.T19204M	TTN_ENST00000359218.5_Missense_Mutation_p.T11905M|TTN_ENST00000460472.2_Missense_Mutation_p.T11780M|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T11972M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T20845M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T18277M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19204	Ig-like 108.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTAGTTGCCGTAACTACATA	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(62533-62535)aCg>aTg		titin							112.0	111.0	111.0					2																	179453918		1898	4131	6029	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179453918G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.57611C>T	2.37:g.179453918G>A	ENSP00000465570:p.Thr19204Met					TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T18277M|TTN_ENST00000342175.6_Missense_Mutation_p.T11972M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T11780M|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T11905M|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T19204M|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.T20845M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	62758	-			19204			Fibronectin type-III 51.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.62534C>T		.	.	.	.	.	.	.	.	.	.	G	13.55	2.269669	0.40095	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	6.02	6.02	0.97574	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81163	0.4765	L	0.57130	1.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.80930	-0.1162	9	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	11780;11905;11972;19204	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	18277;11780;11972;11905;11778	ENSP00000343764:T18277M;ENSP00000434586:T11780M;ENSP00000340554:T11972M;ENSP00000352154:T11905M	ENSP00000340554:T11972M	T	-	2	0	TTN	179162164	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.852000	0.86927	2.857000	0.98124	0.650000	0.86243	ACG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	102	0	0	0	1	0	14	102				
MET	4233	broad.mit.edu	37	7	116397793	116397793	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr7:116397793C>A	ENST00000318493.6	+	8	2254	c.2067C>A	c.(2065-2067)caC>caA	p.H689Q	MET_ENST00000436117.2_Missense_Mutation_p.H689Q|MET_ENST00000397752.3_Missense_Mutation_p.H689Q			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATTCTAGACACATTTCAATTG	0.313			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(2065-2067)caC>caA		met proto-oncogene							93.0	91.0	91.0					7																	116397793		1849	4102	5951	SO:0001583	missense	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116397793C>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2067C>A	7.37:g.116397793C>A	ENSP00000317272:p.His689Gln					MET_ENST00000318493.6_Missense_Mutation_p.H689Q|MET_ENST00000436117.2_Missense_Mutation_p.H689Q	p.H689Q	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		8	2267	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	689			IPT/TIG 2.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.2067C>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590609	0.28357	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.75589	-0.95;-0.95;-0.95	5.45	2.64	0.31445	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.569069	0.19810	N	0.105556	T	0.56688	0.2002	L	0.34521	1.04	0.80722	D	1	B;B;P;B;P;B;B	0.41080	0.411;0.067;0.737;0.249;0.605;0.218;0.43	B;B;B;B;B;B;B	0.40782	0.099;0.065;0.34;0.216;0.34;0.076;0.259	T	0.48340	-0.9044	10	0.17832	T	0.49	.	2.6341	0.04953	0.1132:0.5001:0.1556:0.231	.	689;689;689;689;661;689;689	B5A929;E7EQ94;B5A930;B5A934;B5A936;P08581-2;P08581	.;.;.;.;.;.;MET_HUMAN	Q	689	ENSP00000380860:H689Q;ENSP00000317272:H689Q;ENSP00000410980:H689Q	ENSP00000317272:H689Q	H	+	3	2	MET	116185029	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.462000	0.35266	0.790000	0.33803	0.585000	0.79938	CAC		0.313	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			23	131	1	0	1.55469e-16	1	1.81381e-16	23	131				
STXBP4	252983	broad.mit.edu	37	17	53156045	53156045	+	Splice_Site	SNP	A	A	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr17:53156045A>T	ENST00000376352.2	+	15	1512		c.e15-1		STXBP4_ENST00000434978.2_Splice_Site	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4						cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GTTTGTTGCTAGGCTATTCAA	0.289																																						ENST00000376352.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.e15-1		syntaxin binding protein 4							84.0	85.0	85.0					17																	53156045		2202	4295	6497	SO:0001630	splice_region_variant	252983					cytoplasm	calcium ion binding	g.chr17:53156045A>T	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1306-1A>T	17.37:g.53156045A>T						STXBP4_ENST00000434978.2_Splice_Site		NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN			15	1512	+								Q8IVZ5	Splice_Site	SNP	ENST00000376352.2	37		CCDS11584.2	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258688	0.80246	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3299	0.74200	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STXBP4	50511044	1.000000	0.71417	0.920000	0.36463	0.965000	0.64279	5.994000	0.70623	2.279000	0.76181	0.533000	0.62120	.		0.289	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509	Intron	5	59	0	0	0	1	0	5	59				
WNK3	65267	broad.mit.edu	37	X	54276495	54276495	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chrX:54276495C>T	ENST00000375159.2	-	15	2644	c.2645G>A	c.(2644-2646)cGt>cAt	p.R882H	WNK3_ENST00000354646.2_Missense_Mutation_p.R882H|WNK3_ENST00000375169.3_Missense_Mutation_p.R882H			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	882					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTGAGTCTCACGGTTTCTTAT	0.463													C|||	1	0.000264901	0.0	0.0	3775	,	,		12151	0.0		0.0	False		,,,				2504	0.001					ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2644-2646)cGt>cAt		WNK lysine deficient protein kinase 3							57.0	49.0	52.0					X																	54276495		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54276495C>T	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2645G>A	X.37:g.54276495C>T	ENSP00000364301:p.Arg882His					WNK3_ENST00000375159.2_Missense_Mutation_p.R882H|WNK3_ENST00000375169.3_Missense_Mutation_p.R882H	p.R882H	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			16	3083	-			882					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.2645G>A	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280353	0.59758	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.29655	1.56;1.56;1.56	5.5	4.64	0.57946	.	0.110803	0.41097	N	0.000951	T	0.25158	0.0611	L	0.32530	0.975	0.34327	D	0.687249	B;B	0.17465	0.008;0.022	B;B	0.10450	0.003;0.005	T	0.22138	-1.0225	10	0.56958	D	0.05	-4.1918	12.6618	0.56817	0.0:0.9162:0.0:0.0838	.	882;882	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	H	882	ENSP00000364312:R882H;ENSP00000346667:R882H;ENSP00000364301:R882H	ENSP00000346667:R882H	R	-	2	0	WNK3	54293220	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	4.661000	0.61518	1.088000	0.41272	0.506000	0.49869	CGT		0.463	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		4	7	0	0	0	1	0	4	7				
PDXDC1	23042	broad.mit.edu	37	16	15111006	15111006	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr16:15111006A>G	ENST00000396410.4	+	10	939	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	PDXDC1_ENST00000569715.1_Missense_Mutation_p.Y254C|PDXDC1_ENST00000455313.2_Missense_Mutation_p.Y258C|PDXDC1_ENST00000563679.1_Missense_Mutation_p.Y299C|PDXDC1_ENST00000325823.7_Missense_Mutation_p.Y266C|RP11-680G24.5_ENST00000565178.1_RNA|PDXDC1_ENST00000535621.2_Missense_Mutation_p.Y281C|PDXDC1_ENST00000450288.2_Missense_Mutation_p.Y253C|PDXDC1_ENST00000447912.2_Missense_Mutation_p.Y190C	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	281					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTCTGGGTTATGTCTCCTCA	0.358																																						ENST00000396410.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(841-843)tAt>tGt		pyridoxal-dependent decarboxylase domain containing 1	Pyridoxal Phosphate(DB00114)						296.0	303.0	301.0					16																	15111006		2197	4297	6494	SO:0001583	missense	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15111006A>G	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.842A>G	16.37:g.15111006A>G	ENSP00000379691:p.Tyr281Cys					PDXDC1_ENST00000563679.1_Missense_Mutation_p.Y299C|PDXDC1_ENST00000569715.1_Missense_Mutation_p.Y254C|PDXDC1_ENST00000447912.2_Missense_Mutation_p.Y190C|PDXDC1_ENST00000450288.2_Missense_Mutation_p.Y253C|PDXDC1_ENST00000535621.2_Missense_Mutation_p.Y281C|PDXDC1_ENST00000455313.2_Missense_Mutation_p.Y258C|PDXDC1_ENST00000325823.7_Missense_Mutation_p.Y266C	p.Y281C	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN			10	939	+			281					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	c.842A>G	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.674014	0.67928	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000455313	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.45	5.45	0.79879	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.230616	0.46145	D	0.000320	T	0.38427	0.1040	L	0.43152	1.355	0.51767	D	0.999932	D;D;D;D;D;D	0.89917	0.998;1.0;0.998;0.998;0.998;0.975	D;D;D;D;D;P	0.72982	0.962;0.979;0.943;0.962;0.962;0.854	T	0.11060	-1.0603	10	0.56958	D	0.05	-22.941	14.6937	0.69103	1.0:0.0:0.0:0.0	.	253;190;281;253;281;258	E7EPL4;E7EMH5;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	C	266;190;281;281;253;258	ENSP00000322807:Y266C;ENSP00000400310:Y190C;ENSP00000437835:Y281C;ENSP00000379691:Y281C;ENSP00000391147:Y253C;ENSP00000406703:Y258C	ENSP00000322807:Y266C	Y	+	2	0	PDXDC1	15018507	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.704000	0.68347	2.058000	0.61347	0.443000	0.29094	TAT		0.358	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		34	462	0	0	0	1	0	34	462				
KRT10	3858	broad.mit.edu	37	17	38978344	38978344	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr17:38978344C>T	ENST00000269576.5	-	1	503	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	165	Coil 1A.|Gly-rich.|Rod.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TTCCAGAGCCCGAACTTTGTC	0.483																																						ENST00000269576.5																			0				NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11						c.(493-495)cGg>cAg		keratin 10							148.0	135.0	140.0					17																	38978344		2203	4300	6503	SO:0001583	missense	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38978344C>T	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.494G>A	17.37:g.38978344C>T	ENSP00000269576:p.Arg165Gln					TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	p.R165Q	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN			1	503	-		Breast(137;0.000301)	165			Coil 1A.|Gly-rich.|Rod.		Q14664|Q8N175	Missense_Mutation	SNP	ENST00000269576.5	37	c.494G>A	CCDS11377.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057273	0.76074	.	.	ENSG00000186395	ENST00000269576	D	0.92099	-2.97	4.96	2.92	0.33932	Filament (1);	0.000000	0.33092	N	0.005283	D	0.95265	0.8464	M	0.89840	3.065	0.19300	N	0.999973	P	0.46784	0.884	P	0.58077	0.832	D	0.89155	0.3526	10	0.72032	D	0.01	.	8.9038	0.35510	0.0:0.6996:0.0:0.3004	.	165	P13645	K1C10_HUMAN	Q	165	ENSP00000269576:R165Q	ENSP00000269576:R165Q	R	-	2	0	KRT10	36231870	0.000000	0.05858	0.998000	0.56505	0.992000	0.81027	1.214000	0.32419	1.213000	0.43380	0.603000	0.83216	CGG		0.483	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		19	144	0	0	0	1	0	19	144				
FAM166B	730112	broad.mit.edu	37	9	35562500	35562500	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr9:35562500G>T	ENST00000399742.2	-	5	686	c.616C>A	c.(616-618)Ctg>Atg	p.L206M	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	206										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						AATTCCTGCAGTGCCTGGTTG	0.587																																						ENST00000399742.2																			0				kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						c.(616-618)Ctg>Atg		family with sequence similarity 166, member B							38.0	46.0	43.0					9																	35562500		2133	4260	6393	SO:0001583	missense	730112							g.chr9:35562500G>T	BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.616C>A	9.37:g.35562500G>T	ENSP00000382646:p.Leu206Met					FAM166B_ENST00000492890.1_5'UTR	p.L206M	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN			5	686	-			206					A1L3B2|B7ZBJ0	Missense_Mutation	SNP	ENST00000399742.2	37	c.616C>A	CCDS56572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.16|13.16	2.155497|2.155497	0.38021|0.38021	.|.	.|.	ENSG00000215187|ENSG00000215187	ENST00000537504|ENST00000399742	.|T	.|0.60548	.|0.18	5.12|5.12	3.28|3.28	0.37604|0.37604	.|.	.|7.811370	.|0.01541	.|N	.|0.019252	T|T	0.73313|0.73313	0.3571|0.3571	.|.	.|.	.|.	0.28851|0.28851	N|N	0.89606|0.89606	.|D;P	.|0.89917	.|1.0;0.919	.|D;P	.|0.85130	.|0.997;0.506	T|T	0.45071|0.45071	-0.9286|-0.9286	5|9	0.29301|0.36615	T|T	0.29|0.2	-0.1683|-0.1683	7.8593|7.8593	0.29501|0.29501	0.1927:0.0:0.8073:0.0|0.1927:0.0:0.8073:0.0	.|.	.|194;206	.|B7ZW26;A8MTA8	.|.;F166B_HUMAN	Q|M	190|206	.|ENSP00000382646:L206M	ENSP00000446347:H190Q|ENSP00000382646:L206M	H|L	-|-	3|1	2|2	FAM166B|FAM166B	35552500|35552500	0.960000|0.960000	0.32886|0.32886	0.974000|0.974000	0.42286|0.42286	0.836000|0.836000	0.47400|0.47400	1.516000|1.516000	0.35856|0.35856	0.651000|0.651000	0.30788|0.30788	0.563000|0.563000	0.77884|0.77884	CAC|CTG		0.587	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1	NM_001099951		3	10	1	0	1	1	1	3	10				
ATP13A5	344905	broad.mit.edu	37	3	193042744	193042744	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr3:193042744G>A	ENST00000342358.4	-	14	1700	c.1583C>T	c.(1582-1584)gCg>gTg	p.A528V		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	528						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGCCATGGCCGCACACAGTGG	0.532																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1582-1584)gCg>gTg		ATPase type 13A5							81.0	87.0	85.0					3																	193042744		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193042744G>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1583C>T	3.37:g.193042744G>A	ENSP00000341942:p.Ala528Val						p.A528V	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	14	1700	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		528					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1583C>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849609	0.71603	.	.	ENSG00000187527	ENST00000342358	T	0.69926	-0.44	5.67	3.84	0.44239	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.087753	0.49305	D	0.000147	T	0.59459	0.2195	L	0.47078	1.49	0.37991	D	0.933923	P	0.34757	0.467	B	0.41764	0.366	T	0.56475	-0.7973	10	0.17832	T	0.49	-5.8685	8.0312	0.30465	0.0947:0.3125:0.5928:0.0	.	528	Q4VNC0	AT135_HUMAN	V	528	ENSP00000341942:A528V	ENSP00000341942:A528V	A	-	2	0	ATP13A5	194525438	0.813000	0.29090	0.880000	0.34516	0.751000	0.42716	1.376000	0.34306	1.389000	0.46526	0.655000	0.94253	GCG		0.532	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		19	128	0	0	0	1	0	19	128				
AC073321.4	0	broad.mit.edu	37	2	217475010	217475010	+	lincRNA	DEL	G	G	-	rs370329361		TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr2:217475010delG	ENST00000441803.1	+	0	195																											ttttttttttGAAAGAAAGGC	0.393																																						ENST00000441803.1																			0																																																			0							g.chr2:217475010delG																													2.37:g.217475010delG														0	195	+									RNA	DEL	ENST00000441803.1	37																																																																																						0.393	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			2	4						2	4	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-	rs147600909		TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527																																						ENST00000474524.1																			1	Substitution - Missense(1)	p.Q2111E(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6331-6333)del		mediator complex subunit 12-like																																				SO:0001651	inframe_deletion	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148114_151148116delCAG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6331_6333delCAG	3.37:g.151148123_151148125delCAG	ENSP00000417235:p.Gln2115del					MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	p.Q2115del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6369_6371	+			2115			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	In_Frame_Del	DEL	ENST00000474524.1	37	c.6331_6333delCAG	CCDS33876.1																																																																																				0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	104						7	104	---	---	---	---
TFCP2	7024	broad.mit.edu	37	12	51504700	51504700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr12:51504700delA	ENST00000257915.5	-	5	982	c.524delT	c.(523-525)ttcfs	p.F175fs	TFCP2_ENST00000548115.1_Frame_Shift_Del_p.F175fs|TFCP2_ENST00000307660.4_Frame_Shift_Del_p.F175fs|TFCP2_ENST00000549867.1_Frame_Shift_Del_p.F175fs	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	175	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GTCCCACAGGAACTCCACTGT	0.398																																						ENST00000307660.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						c.(523-525)tcfs		transcription factor CP2							167.0	160.0	162.0					12																	51504700		2203	4300	6503	SO:0001589	frameshift_variant	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51504700delA	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.524delT	12.37:g.51504700delA	ENSP00000257915:p.Phe175fs					TFCP2_ENST00000257915.5_Frame_Shift_Del_p.F175fs|TFCP2_ENST00000549867.1_Frame_Shift_Del_p.F175fs|TFCP2_ENST00000548115.1_Frame_Shift_Del_p.F175fs	p.F175fs	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN			5	1244	-			175			DNA-binding.		A8K5E9|Q12801|Q9UD75|Q9UD77	Frame_Shift_Del	DEL	ENST00000257915.5	37	c.524delT	CCDS8808.1																																																																																				0.398	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		33	286						33	286	---	---	---	---
CSPG4P5	114817	broad.mit.edu	37	15	84957462	84957472	+	RNA	DEL	GTGGCATCTGT	GTGGCATCTGT	-	rs578077920|rs200998054|rs540048240|rs376565740|rs145189308	byFrequency	TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr15:84957462_84957472delGTGGCATCTGT	ENST00000558801.1	-	0	7257_7267									DNM1 pseudogene 51																		CACTTGTAGGGTGGCATCTGTGTGCACTGGC	0.578																																						ENST00000558801.1																			0																																																			114817							g.chr15:84957462_84957472delGTGGCATCTGT			15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84957462_84957472delGTGGCATCTGT														0	7257_7267	-									RNA	DEL	ENST00000558801.1	37																																																																																						0.578	DNM1P51-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471721.1			3	4						3	4	---	---	---	---
RRN3P2	653390	broad.mit.edu	37	16	29110406	29110406	+	RNA	DEL	T	T	-	rs529995153	byFrequency	TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr16:29110406delT	ENST00000564580.1	+	0	1098							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2																		TTAAAAAATCTTTTTTTTTTT	0.299													|||unknown(NO_COVERAGE)	393	0.0784744	0.1619	0.0403	5008	,	,		15270	0.0407		0.0278	False		,,,				2504	0.0838					ENST00000564580.1																			0																																																			653390							g.chr16:29110406delT			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110406delT														0	1098	+									RNA	DEL	ENST00000564580.1	37																																																																																						0.299	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		8	65						8	65	---	---	---	---
INSM1	3642	broad.mit.edu	37	20	20349570	20349570	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KU-A6H8-01A-21D-A34J-08	TCGA-KU-A6H8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23de294b-badb-40b1-ac77-e7e16ff23839	610127a0-b1b0-485f-acf0-cfcc55debe10	g.chr20:20349570delC	ENST00000310227.1	+	1	806	c.659delC	c.(658-660)gccfs	p.A220fs		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	220	Ala/Gly/Pro-rich.				adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		GCCCCGGGCGCCAAGAAGCCC	0.756																																						ENST00000310227.1																			0				liver(1)|lung(3)|ovary(1)|prostate(1)	6						c.(658-660)gcfs		insulinoma-associated 1							4.0	4.0	4.0					20																	20349570		1679	3335	5014	SO:0001589	frameshift_variant	3642				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:20349570delC		CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.659delC	20.37:g.20349570delC	ENSP00000312631:p.Ala220fs						p.A220fs	NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN		READ - Rectum adenocarcinoma(2;0.0649)	1	806	+			220			Ala/Gly/Pro-rich.			Frame_Shift_Del	DEL	ENST00000310227.1	37	c.659delC	CCDS13143.1																																																																																				0.756	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1	NM_002196		2	4						2	4	---	---	---	---
