#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PBX1	5087	broad.mit.edu	37	1	164789324	164789324	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr1:164789324T>G	ENST00000420696.2	+	7	1201	c.1013T>G	c.(1012-1014)tTt>tGt	p.F338C	PBX1_ENST00000540236.1_Missense_Mutation_p.F338C|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540246.1_Missense_Mutation_p.F233C|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000560641.1_Missense_Mutation_p.F233C	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	338					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.F338C(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TCCAGTTCTTTTAACATGTCA	0.473			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	"""TCF3, EWSR1"""		"""pre B-ALL, myoepithelioma"""	EWSR1/PBX1(3)	1	Substitution - Missense(1)	p.F338C(1)	prostate(1)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1012-1014)tTt>tGt		pre-B-cell leukemia homeobox 1							77.0	76.0	76.0					1																	164789324		2203	4300	6503	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164789324T>G	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.1013T>G	1.37:g.164789324T>G	ENSP00000405890:p.Phe338Cys					PBX1_ENST00000560641.1_Missense_Mutation_p.F233C|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540246.1_Missense_Mutation_p.F233C|PBX1_ENST00000540236.1_Missense_Mutation_p.F338C|PBX1_ENST00000367897.1_Intron	p.F338C	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN			7	1201	+			338					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.1013T>G	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161543	0.78226	.	.	ENSG00000185630	ENST00000420696;ENST00000540236;ENST00000540246	D;D;D	0.89343	-2.42;-2.42;-2.5	5.61	5.61	0.85477	.	0.097622	0.64402	D	0.000001	D	0.92407	0.7590	M	0.77103	2.36	.	.	.	D;D;D;D	0.67145	0.987;0.992;0.995;0.996	P;P;D;P	0.63703	0.765;0.765;0.917;0.765	D	0.92585	0.6078	9	0.48119	T	0.1	-6.3713	15.47	0.75434	0.0:0.0:0.0:1.0	.	233;338;338;338	B7Z774;A8K5V0;F5H4U9;P40424	.;.;.;PBX1_HUMAN	C	338;338;233	ENSP00000405890:F338C;ENSP00000439943:F338C;ENSP00000440869:F233C	ENSP00000405890:F338C	F	+	2	0	PBX1	163055948	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.859000	0.69539	2.134000	0.65973	0.533000	0.62120	TTT		0.473	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		20	131	20	131	---	---	---	---
LMAN2L	81562	broad.mit.edu	37	2	97369281	97369281	+	IGR	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr2:97369281G>A	ENST00000264963.4	-	0	2397				FER1L5_ENST00000457909.1_RNA	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like						ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.E1941K(1)		NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GATGAGCCTGGAGATTCTGTC	0.577																																						ENST00000457909.1																			1	Substitution - Missense(1)	p.E1941K(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)							58.0	63.0	61.0					2																	97369281		1952	4146	6098	SO:0001628	intergenic_variant	90342					integral to membrane		g.chr2:97369281G>A	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453		2.37:g.97369281G>A										A0AVI2	FR1L5_HUMAN			0	5216	+								B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	RNA	SNP	ENST00000264963.4	37		CCDS2023.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.242315	0.39598	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	5.67	5.67	0.87782	.	0.000000	0.45361	U	0.000377	D	0.85292	0.5663	M	0.89095	3.005	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.87541	0.2459	8	0.87932	D	0	-33.5282	18.547	0.91050	0.0:0.0:1.0:0.0	.	649;1941;650	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	K	1941;1945;650	.	ENSP00000442027:E650K	E	+	1	0	FER1L5	96733008	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	7.607000	0.82883	2.676000	0.91093	0.655000	0.94253	GAG		0.577	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		7	57	7	57	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167304172	167304172	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr2:167304172G>T	ENST00000409855.1	-	11	1463	c.1337C>A	c.(1336-1338)aCa>aAa	p.T446K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	446					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.T446K(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TGATGTGTCTGTGGAAATTGG	0.378																																						ENST00000409855.1																			3	Substitution - Missense(3)	p.T446K(3)	prostate(3)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(1336-1338)aCa>aAa		sodium channel, voltage-gated, type VII, alpha subunit							253.0	229.0	237.0					2																	167304172		1857	4098	5955	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167304172G>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1337C>A	2.37:g.167304172G>T	ENSP00000386796:p.Thr446Lys						p.T446K	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			11	1463	-			446						Missense_Mutation	SNP	ENST00000409855.1	37	c.1337C>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	g	9.496	1.102033	0.20632	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.96459	-3.99;-4.02	5.13	0.0485	0.14285	.	1.451170	0.03833	N	0.269437	D	0.91563	0.7335	L	0.34521	1.04	0.09310	N	1	B	0.17667	0.023	B	0.15870	0.014	T	0.80462	-0.1372	10	0.34782	T	0.22	.	0.999	0.01473	0.3476:0.1683:0.3209:0.1632	.	446	Q01118	SCN7A_HUMAN	K	446	ENSP00000386796:T446K;ENSP00000413699:T446K	ENSP00000259060:T446K	T	-	2	0	SCN7A	167012418	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.012000	0.12699	0.422000	0.26005	0.586000	0.80456	ACA		0.378	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			45	149	45	149	---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47036899	47036899	+	Silent	SNP	A	A	G			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:47036899A>G	ENST00000450053.3	+	13	1853	c.1674A>G	c.(1672-1674)gcA>gcG	p.A558A	NBEAL2_ENST00000292309.5_Silent_p.A558A|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	558					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.A119A(1)|p.A558A(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCGACACGCAGGTGCTGTCA	0.632																																						ENST00000450053.3																			2	Substitution - coding silent(2)	p.A119A(1)|p.A558A(1)	prostate(2)	NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1672-1674)gcA>gcG		neurobeachin-like 2							35.0	41.0	39.0					3																	47036899		2159	4255	6414	SO:0001819	synonymous_variant	23218						binding	g.chr3:47036899A>G	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1674A>G	3.37:g.47036899A>G						NBEAL2_ENST00000292309.5_Silent_p.A558A|NBEAL2_ENST00000383740.2_5'UTR	p.A558A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	13	1853	+		Acute lymphoblastic leukemia(5;0.0534)	558					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.1674A>G	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	A	5.292	0.239302	0.10023	.	.	ENSG00000160796	ENST00000416683	.	.	.	4.68	-4.62	0.03370	.	.	.	.	.	T	0.36799	0.0980	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39313	-0.9620	4	.	.	.	.	1.6302	0.02731	0.3561:0.2502:0.2792:0.1145	.	.	.	.	R	30	.	.	Q	+	2	0	NBEAL2	47011903	0.001000	0.12720	0.383000	0.26132	0.379000	0.30106	-1.710000	0.01888	-0.515000	0.06479	0.533000	0.62120	CAG		0.632	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		17	35	17	35	---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51347719	51347719	+	Silent	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:51347719C>T	ENST00000266037.9	+	28	3002	c.2979C>T	c.(2977-2979)ttC>ttT	p.F993F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	993					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.F993F(2)|p.F982F(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGAGTGTCTTCCCTCGGGACT	0.463																																						ENST00000266037.9																			3	Substitution - coding silent(3)	p.F993F(2)|p.F982F(1)	prostate(3)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(2977-2979)ttC>ttT		dedicator of cytokinesis 3							148.0	139.0	142.0					3																	51347719		1975	4157	6132	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51347719C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2979C>T	3.37:g.51347719C>T							p.F993F	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	28	3002	+			993					O15017	Silent	SNP	ENST00000266037.9	37	c.2979C>T	CCDS46835.1																																																																																				0.463	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		8	12	8	12	---	---	---	---
MME	4311	broad.mit.edu	37	3	154860109	154860109	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:154860109C>A	ENST00000460393.1	+	12	1298	c.1178C>A	c.(1177-1179)gCt>gAt	p.A393D	MME_ENST00000360490.2_Missense_Mutation_p.A393D|MME_ENST00000493237.1_Missense_Mutation_p.A393D|MME_ENST00000492661.1_Missense_Mutation_p.A393D|MME_ENST00000462745.1_Missense_Mutation_p.A393D	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	393					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.A393D(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TCCAGAAATGCTTTCCGCAAG	0.378																																						ENST00000460393.1																			1	Substitution - Missense(1)	p.A393D(1)	prostate(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1177-1179)gCt>gAt		membrane metallo-endopeptidase	Candoxatril(DB00616)						65.0	68.0	67.0					3																	154860109		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154860109C>A		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1178C>A	3.37:g.154860109C>A	ENSP00000418525:p.Ala393Asp					MME_ENST00000493237.1_Missense_Mutation_p.A393D|MME_ENST00000360490.2_Missense_Mutation_p.A393D|MME_ENST00000492661.1_Missense_Mutation_p.A393D|MME_ENST00000462745.1_Missense_Mutation_p.A393D	p.A393D	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		12	1298	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	393					A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.1178C>A	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	6.260	0.416064	0.11870	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.93	5.93	0.95920	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.170160	0.51477	D	0.000091	T	0.55433	0.1920	N	0.26130	0.795	0.42668	D	0.993506	B	0.15930	0.015	B	0.14023	0.01	T	0.50634	-0.8805	10	0.16896	T	0.51	-23.1534	11.5665	0.50809	0.1391:0.7268:0.1341:0.0	.	393	P08473	NEP_HUMAN	D	393	ENSP00000420389:A393D;ENSP00000418525:A393D;ENSP00000419653:A393D;ENSP00000417079:A393D;ENSP00000353679:A393D	ENSP00000353679:A393D	A	+	2	0	MME	156342803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.522000	0.53480	2.803000	0.96430	0.585000	0.79938	GCT		0.378	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		10	166	10	166	---	---	---	---
SKIV2L	6499	broad.mit.edu	37	6	31930258	31930258	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:31930258G>C	ENST00000375394.2	+	11	1220	c.1107G>C	c.(1105-1107)aaG>aaC	p.K369N	SKIV2L_ENST00000544581.1_Missense_Mutation_p.K176N	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	369	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.K369N(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCAACCAGAAGTTCCGGGACT	0.587																																						ENST00000375394.2																			2	Substitution - Missense(2)	p.K369N(2)	prostate(2)	breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(1105-1107)aaG>aaC		superkiller viralicidic activity 2-like (S. cerevisiae)							80.0	73.0	75.0					6																	31930258		2203	4300	6503	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31930258G>C		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1107G>C	6.37:g.31930258G>C	ENSP00000364543:p.Lys369Asn					SKIV2L_ENST00000544581.1_Missense_Mutation_p.K176N	p.K369N	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			11	1220	+			369			Helicase ATP-binding.		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.1107G>C	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493324	0.84962	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.71103	-0.54;-0.54	5.49	4.62	0.57501	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89553	0.6748	H	0.99909	4.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92029	0.5632	10	0.87932	D	0	-28.6813	10.0964	0.42478	0.1617:0.0:0.8383:0.0	.	369	Q15477	SKIV2_HUMAN	N	369;211;176	ENSP00000364543:K369N;ENSP00000442645:K176N	ENSP00000364543:K369N	K	+	3	2	SKIV2L	32038237	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.110000	0.50352	1.328000	0.45358	0.655000	0.94253	AAG		0.587	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			48	93	48	93	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51524058	51524058	+	Silent	SNP	G	G	A	rs562381413		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:51524058G>A	ENST00000371117.3	-	61	11141	c.10866C>T	c.(10864-10866)tgC>tgT	p.C3622C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3622			C -> Y (in ARPKD). {ECO:0000269|PubMed:12846734}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.C3622C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCACAGTAGGGCAATTGCGCT	0.458																																						ENST00000371117.3																			1	Substitution - coding silent(1)	p.C3622C(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(10864-10866)tgC>tgT		polycystic kidney and hepatic disease 1 (autosomal recessive)							128.0	128.0	128.0					6																	51524058		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524058G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10866C>T	6.37:g.51524058G>A							p.C3622C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			61	11141	-	Lung NSC(77;0.0605)		3622		C -> Y (in ARPKD).			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.10866C>T	CCDS4935.1																																																																																				0.458	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		62	151	62	151	---	---	---	---
SP4	6671	broad.mit.edu	37	7	21469876	21469876	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:21469876C>G	ENST00000222584.3	+	3	1311	c.1093C>G	c.(1093-1095)Cct>Gct	p.P365A		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	365					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.P365A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTCAAACACCTGCTGCTAC	0.468																																						ENST00000222584.3																			1	Substitution - Missense(1)	p.P365A(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1093-1095)Cct>Gct		Sp4 transcription factor							90.0	78.0	82.0					7																	21469876		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469876C>G		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1093C>G	7.37:g.21469876C>G	ENSP00000222584:p.Pro365Ala						p.P365A	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			3	1311	+			365					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.1093C>G	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	8.854	0.945285	0.18356	.	.	ENSG00000105866	ENST00000222584	T	0.08634	3.07	4.85	4.85	0.62838	.	0.000000	0.49916	D	0.000127	T	0.06096	0.0158	N	0.24115	0.695	0.44843	D	0.997856	B	0.24132	0.098	B	0.23419	0.046	T	0.34875	-0.9811	10	0.35671	T	0.21	.	8.9621	0.35854	0.0:0.9016:0.0:0.0984	.	365	Q02446	SP4_HUMAN	A	365	ENSP00000222584:P365A	ENSP00000222584:P365A	P	+	1	0	SP4	21436401	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.314000	0.43743	2.512000	0.84698	0.591000	0.81541	CCT		0.468	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		8	144	8	144	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42262830	42262830	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:42262830G>C	ENST00000395925.3	-	2	107	c.23C>G	c.(22-24)tCc>tGc	p.S8C	GLI3_ENST00000437480.1_Missense_Mutation_p.S8C	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	8					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S8C(2)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGTGGTCGTGGAGCTGTGGGA	0.453									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			2	Substitution - Missense(2)	p.S8C(2)	prostate(2)	NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(22-24)tCc>tGc		GLI family zinc finger 3							139.0	127.0	131.0					7																	42262830		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42262830G>C		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.23C>G	7.37:g.42262830G>C	ENSP00000379258:p.Ser8Cys					GLI3_ENST00000437480.1_Missense_Mutation_p.S8C	p.S8C	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			2	107	-			8					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.23C>G	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852520	0.91355	.	.	ENSG00000106571	ENST00000395925;ENST00000448703;ENST00000437480	T	0.19105	2.17	6.17	6.17	0.99709	.	0.241832	0.40469	N	0.001089	T	0.29945	0.0749	N	0.24115	0.695	0.58432	D	0.999999	D	0.62365	0.991	P	0.54401	0.751	T	0.01149	-1.1436	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	8	P10071	GLI3_HUMAN	C	8	ENSP00000379258:S8C	ENSP00000379258:S8C	S	-	2	0	GLI3	42229355	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.270000	0.72563	2.941000	0.99782	0.655000	0.94253	TCC		0.453	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		11	161	11	161	---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	70228041	70228041	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:70228041C>A	ENST00000342771.4	+	7	1249	c.928C>A	c.(928-930)Cag>Aag	p.Q310K	AUTS2_ENST00000406775.2_Missense_Mutation_p.Q310K	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	310								p.Q310K(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACCCCAGCCGCAGACGGAGCC	0.607																																						ENST00000342771.4																			1	Substitution - Missense(1)	p.Q310K(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(928-930)Cag>Aag		autism susceptibility candidate 2							56.0	61.0	59.0					7																	70228041		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70228041C>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.928C>A	7.37:g.70228041C>A	ENSP00000344087:p.Gln310Lys					AUTS2_ENST00000406775.2_Missense_Mutation_p.Q310K	p.Q310K	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	7	1249	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	310					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.928C>A	CCDS5539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.684|7.684	0.689682|0.689682	0.14973|0.14973	.|.	.|.	ENSG00000158321|ENSG00000158321	ENST00000416482|ENST00000406775;ENST00000342771	.|T;T	.|0.30714	.|1.52;1.52	5.58|5.58	2.82|2.82	0.32997|0.32997	.|.	.|1.161450	.|0.06165	.|N	.|0.676675	T|T	0.22589|0.22589	0.0545|0.0545	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.11235	.|0.004;0.004	.|B;B	.|0.13407	.|0.009;0.009	T|T	0.30563|0.30563	-0.9974|-0.9974	5|9	.|.	.|.	.|.	0.0534|0.0534	5.9757|5.9757	0.19377|0.19377	0.0:0.6404:0.1395:0.2201|0.0:0.6404:0.1395:0.2201	.|.	.|310;310	.|Q8WXX7-2;Q8WXX7	.|.;AUTS2_HUMAN	E|K	90|310	.|ENSP00000385263:Q310K;ENSP00000344087:Q310K	.|.	A|Q	+|+	2|1	0|0	AUTS2|AUTS2	69865977|69865977	0.008000|0.008000	0.16893|0.16893	0.055000|0.055000	0.19348|0.19348	0.329000|0.329000	0.28539|0.28539	2.304000|2.304000	0.43655|0.43655	0.317000|0.317000	0.23160|0.23160	0.557000|0.557000	0.71058|0.71058	GCA|CAG		0.607	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			3	38	3	38	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8449746	8449746	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:8449746G>A	ENST00000381196.4	-	31	4510	c.3967C>T	c.(3967-3969)Cgc>Tgc	p.R1323C	PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1323					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R794C(1)|p.R1323C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGTTAAGGCGCCTCAGTTCT	0.463										TSP Lung(15;0.13)																												ENST00000381196.4																			2	Substitution - Missense(2)	p.R794C(1)|p.R1323C(1)	prostate(2)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3967-3969)Cgc>Tgc		protein tyrosine phosphatase, receptor type, D							352.0	317.0	329.0					9																	8449746		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8449746G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3967C>T	9.37:g.8449746G>A	ENSP00000370593:p.Arg1323Cys	TSP Lung(15;0.13)				PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C	p.R1323C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	31	4510	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1323					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3967C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113135	0.77210	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.57273	0.47;0.47;0.51;0.56;0.63;0.74;0.5;0.41;0.47;0.62;0.74	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D;D;B;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.014;0.999;1.0	D;D;D;D;D;D;B;P;D	0.83275	0.973;0.973;0.973;0.973;0.996;0.988;0.004;0.794;0.953	T	0.79813	-0.1645	9	.	.	.	.	14.7505	0.69522	0.0:0.0:0.8554:0.1446	.	902;907;916;917;913;913;1310;1323;1323	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	C	1323;1323;1310;1301;917;902;913;913;794;1323;916;902	ENSP00000370593:R1323C;ENSP00000348812:R1323C;ENSP00000353187:R1310C;ENSP00000351293:R1301C;ENSP00000347373:R917C;ENSP00000380741:R902C;ENSP00000380735:R913C;ENSP00000440515:R913C;ENSP00000438164:R1323C;ENSP00000417093:R916C;ENSP00000380731:R902C	.	R	-	1	0	PTPRD	8439746	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.797000	0.69087	2.788000	0.95919	0.650000	0.86243	CGC		0.463	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			7	291	7	291	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77448965	77448965	+	Silent	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:77448965T>C	ENST00000360774.1	-	6	855	c.618A>G	c.(616-618)ggA>ggG	p.G206G	TRPM6_ENST00000359047.2_Silent_p.G206G|TRPM6_ENST00000361255.3_Silent_p.G201G|TRPM6_ENST00000449912.2_Silent_p.G201G|TRPM6_ENST00000376871.3_Silent_p.G206G|TRPM6_ENST00000451710.3_Silent_p.G206G|TRPM6_ENST00000376864.4_Silent_p.G206G|TRPM6_ENST00000376872.3_Silent_p.G206G|TRPM6_ENST00000483186.1_5'UTR	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	206					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.G206G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAGGAGGGATTCCAACTGTCC	0.418																																						ENST00000451710.3																			1	Substitution - coding silent(1)	p.G206G(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(616-618)ggA>ggG		transient receptor potential cation channel, subfamily M, member 6							150.0	139.0	143.0					9																	77448965		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77448965T>C	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.618A>G	9.37:g.77448965T>C						TRPM6_ENST00000361255.3_Silent_p.G201G|TRPM6_ENST00000449912.2_Silent_p.G201G|TRPM6_ENST00000376871.3_Silent_p.G206G|TRPM6_ENST00000376864.4_Silent_p.G206G|TRPM6_ENST00000359047.2_Silent_p.G206G|TRPM6_ENST00000360774.1_Silent_p.G206G|TRPM6_ENST00000376872.3_Silent_p.G206G|TRPM6_ENST00000483186.1_5'UTR	p.G206G			Q9BX84	TRPM6_HUMAN			6	855	-			206					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.618A>G	CCDS6647.1																																																																																				0.418	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		60	122	60	122	---	---	---	---
SYK	6850	broad.mit.edu	37	9	93606305	93606305	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:93606305G>A	ENST00000375754.4	+	2	273	c.125G>A	c.(124-126)cGc>cAc	p.R42H	SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375747.1_Missense_Mutation_p.R42H|SYK_ENST00000375751.4_Missense_Mutation_p.R42H|SYK_ENST00000375746.1_Missense_Mutation_p.R42H	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	42	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.R42H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TATTTGCTGCGCCAGAGCCGC	0.617			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"""ETV6, ITK"""		"""MDS, peripheral T-cell lymphoma"""		1	Substitution - Missense(1)	p.R42H(1)	prostate(1)	breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(124-126)cGc>cAc		spleen tyrosine kinase							61.0	41.0	48.0					9																	93606305		2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93606305G>A	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.125G>A	9.37:g.93606305G>A	ENSP00000364907:p.Arg42His					SYK_ENST00000375746.1_Missense_Mutation_p.R42H|SYK_ENST00000375751.4_Missense_Mutation_p.R42H|SYK_ENST00000375747.1_Missense_Mutation_p.R42H|SYK_ENST00000476708.1_3'UTR	p.R42H	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			2	273	+			42			SH2 1.			Missense_Mutation	SNP	ENST00000375754.4	37	c.125G>A	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392325	0.95988	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7	5.16	5.16	0.70880	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.95470	3.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.97820	1.0256	10	0.87932	D	0	.	18.8405	0.92182	0.0:0.0:1.0:0.0	.	42;42;42	P43405-2;P43405;C3W981	.;KSYK_HUMAN;.	H	42	ENSP00000364907:R42H;ENSP00000364904:R42H;ENSP00000364899:R42H;ENSP00000364898:R42H	ENSP00000364898:R42H	R	+	2	0	SYK	92646126	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.046000	0.93817	2.682000	0.91365	0.655000	0.94253	CGC		0.617	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			6	13	6	13	---	---	---	---
CARD9	64170	broad.mit.edu	37	9	139262118	139262118	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:139262118T>C	ENST00000371732.5	-	8	1405	c.1240A>G	c.(1240-1242)Agg>Ggg	p.R414G	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000371734.3_Missense_Mutation_p.R414G	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	414					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)	p.R414G(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TGCTGCCGCCTGAGCCTGCCC	0.721																																						ENST00000371732.5																			1	Substitution - Missense(1)	p.R414G(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(1240-1242)Agg>Ggg		caspase recruitment domain family, member 9							25.0	24.0	24.0					9																	139262118		2185	4289	6474	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139262118T>C	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1240A>G	9.37:g.139262118T>C	ENSP00000360797:p.Arg414Gly					CARD9_ENST00000371734.3_Missense_Mutation_p.R414G	p.R414G	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	8	1405	-		Myeloproliferative disorder(178;0.0511)	414					Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.1240A>G	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.233504	0.39498	.	.	ENSG00000187796	ENST00000371734;ENST00000371732	T;T	0.32988	1.43;1.43	3.76	2.57	0.30868	.	0.469100	0.19918	N	0.103152	T	0.22589	0.0545	L	0.38175	1.15	0.80722	D	1	B;B;B	0.33238	0.403;0.136;0.039	B;B;B	0.30782	0.12;0.053;0.024	T	0.05305	-1.0893	10	0.62326	D	0.03	-20.5954	9.5467	0.39284	0.0:0.0:0.1779:0.8221	.	310;414;414	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	G	414	ENSP00000360799:R414G;ENSP00000360797:R414G	ENSP00000360797:R414G	R	-	1	2	CARD9	138381939	0.998000	0.40836	0.992000	0.48379	0.620000	0.37586	2.082000	0.41605	0.591000	0.29711	0.482000	0.46254	AGG		0.721	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		2	12	2	12	---	---	---	---
OR4A16	81327	broad.mit.edu	37	11	55110960	55110960	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:55110960G>T	ENST00000314721.2	+	1	334	c.284G>T	c.(283-285)tGc>tTc	p.C95F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C95F(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTGTCAGCTTGCATGGGTCAG	0.453																																						ENST00000314721.2																			1	Substitution - Missense(1)	p.C95F(1)	prostate(1)	NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(283-285)tGc>tTc		olfactory receptor, family 4, subfamily A, member 16							209.0	192.0	198.0					11																	55110960		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110960G>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.284G>T	11.37:g.55110960G>T	ENSP00000325128:p.Cys95Phe						p.C95F	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	334	+			95					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.284G>T	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	6.000	0.368437	0.11352	.	.	ENSG00000181961	ENST00000314721	T	0.00547	6.66	2.57	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02230	0.0069	H	0.99058	4.415	0.34306	D	0.684902	P	0.34909	0.475	B	0.40375	0.327	T	0.00045	-1.2216	9	0.87932	D	0	.	10.8399	0.46708	0.0:0.0:1.0:0.0	.	95	Q8NH70	O4A16_HUMAN	F	95	ENSP00000325128:C95F	ENSP00000325128:C95F	C	+	2	0	OR4A16	54867536	1.000000	0.71417	0.049000	0.19019	0.056000	0.15407	7.945000	0.87732	1.445000	0.47624	0.423000	0.28283	TGC		0.453	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		10	551	10	551	---	---	---	---
ATM	472	broad.mit.edu	37	11	108235812	108235812	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:108235812C>T	ENST00000452508.2	+	63	9043	c.8854C>T	c.(8854-8856)Ctt>Ttt	p.L2952F	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2952F|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2952	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L2952F(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGTTTAGGTCCTTCTATATGA	0.368			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		2	Substitution - Missense(2)	p.L2952F(2)	prostate(2)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8854-8856)Ctt>Ttt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							80.0	75.0	76.0					11																	108235812		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108235812C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8854C>T	11.37:g.108235812C>T	ENSP00000388058:p.Leu2952Phe	TSP Lung(14;0.12)				C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.L2952F|ATM_ENST00000525178.1_3'UTR	p.L2952F	NM_000051.3	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	62	9239	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2952			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8854C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817695	0.71028	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.80033	-1.33;-1.33	5.51	5.51	0.81932	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	N	0.04090	-0.28	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.78250	-0.2277	10	0.38643	T	0.18	.	12.7706	0.57419	0.0:0.9252:0.0:0.0748	.	2952	Q13315	ATM_HUMAN	F	2952	ENSP00000278616:L2952F;ENSP00000388058:L2952F	ENSP00000278616:L2952F	L	+	1	0	ATM	107741022	1.000000	0.71417	0.964000	0.40570	0.764000	0.43329	3.196000	0.51020	2.605000	0.88082	0.650000	0.86243	CTT		0.368	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		4	102	4	102	---	---	---	---
GPALPP1	55425	broad.mit.edu	37	13	45594565	45594565	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr13:45594565T>A	ENST00000379151.4	+	7	907		c.e7+2		GPALPP1_ENST00000361121.2_Splice_Site|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_Splice_Site	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1									p.?(1)									TCATACAATGTAAGTAAGAAA	0.418																																						ENST00000361121.2																			1	Unknown(1)	p.?(1)	prostate(1)								c.e7+2		GPALPP motifs containing 1							68.0	71.0	70.0					13																	45594565		2203	4299	6502	SO:0001630	splice_region_variant	55425							g.chr13:45594565T>A	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.804+2T>A	13.37:g.45594565T>A						GPALPP1_ENST00000379151.4_Splice_Site|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_Splice_Site								7	839	+								A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Splice_Site	SNP	ENST00000379151.4	37		CCDS9394.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705997	0.68615	.	.	ENSG00000133114	ENST00000379151;ENST00000361121;ENST00000357537	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9514	0.71077	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1704	44492565	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	3.662000	0.54510	2.194000	0.70268	0.528000	0.53228	.		0.418	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559	Intron	5	91	5	91	---	---	---	---
KLC1	3831	broad.mit.edu	37	14	104124043	104124043	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr14:104124043T>C	ENST00000348520.6	+	3	741	c.422T>C	c.(421-423)cTg>cCg	p.L141P	KLC1_ENST00000347839.6_Missense_Mutation_p.L141P|KLC1_ENST00000389744.4_Missense_Mutation_p.L141P|KLC1_ENST00000557450.1_Missense_Mutation_p.L141P|KLC1_ENST00000557575.1_Missense_Mutation_p.L141P|KLC1_ENST00000445352.4_Missense_Mutation_p.L141P|KLC1_ENST00000380038.3_Missense_Mutation_p.L141P|KLC1_ENST00000553286.1_Missense_Mutation_p.L141P|KLC1_ENST00000554280.1_Missense_Mutation_p.L141P|KLC1_ENST00000452929.2_Missense_Mutation_p.L141P|KLC1_ENST00000555836.1_Missense_Mutation_p.L141P|KLC1_ENST00000334553.6_Missense_Mutation_p.L141P|KLC1_ENST00000246489.7_Missense_Mutation_p.L141P|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.L313P	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	141					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L141P(1)	KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GTGGCTCAACTGGAGGAGGAG	0.502																																						ENST00000389744.4																		KLC1/ALK(2)	1	Substitution - Missense(1)	p.L141P(1)	prostate(1)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12						c.(421-423)cTg>cCg		kinesin light chain 1							91.0	78.0	82.0					14																	104124043		2203	4300	6503	SO:0001583	missense	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104124043T>C	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.422T>C	14.37:g.104124043T>C	ENSP00000341154:p.Leu141Pro					KLC1_ENST00000555836.1_Missense_Mutation_p.L141P|KLC1_ENST00000557450.1_Missense_Mutation_p.L141P|KLC1_ENST00000445352.4_Missense_Mutation_p.L141P|KLC1_ENST00000553286.1_Missense_Mutation_p.L141P|KLC1_ENST00000246489.7_Missense_Mutation_p.L141P|KLC1_ENST00000380038.3_Missense_Mutation_p.L141P|KLC1_ENST00000348520.6_Missense_Mutation_p.L141P|KLC1_ENST00000334553.6_Missense_Mutation_p.L141P|KLC1_ENST00000452929.2_Missense_Mutation_p.L141P|KLC1_ENST00000554280.1_Missense_Mutation_p.L141P|KLC1_ENST00000557575.1_Missense_Mutation_p.L141P|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.L313P|KLC1_ENST00000347839.6_Missense_Mutation_p.L141P	p.L141P			Q07866	KLC1_HUMAN			3	691	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	141					A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	ENST00000348520.6	37	c.422T>C	CCDS41996.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796007	0.90453	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000557172;ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.49	5.49	0.81192	Rabaptin, GTPase-Rab5 binding (1);	0.000000	0.85682	D	0.000000	D	0.85115	0.5623	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.992;0.997;0.998;0.994	D	0.86944	0.2081	10	0.59425	D	0.04	-11.5944	15.8895	0.79286	0.0:0.0:0.0:1.0	.	141;141;313;141;141	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	P	141;141;141;141;141;141;141;141;141;141;141;141;141;141;141;313	ENSP00000450786:L141P;ENSP00000341154:L141P;ENSP00000369377:L141P;ENSP00000374394:L141P;ENSP00000450617:L141P;ENSP00000452487:L141P;ENSP00000334618:L141P;ENSP00000452481:L141P;ENSP00000334523:L141P;ENSP00000246489:L141P;ENSP00000450648:L141P;ENSP00000451242:L141P;ENSP00000414982:L141P;ENSP00000412693:L141P;ENSP00000439065:L313P	ENSP00000246489:L141P	L	+	2	0	KLC1;RP11-73M18.2	103193796	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.207000	0.71202	0.533000	0.62120	CTG		0.502	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		3	77	3	77	---	---	---	---
CCDC178	374864	broad.mit.edu	37	18	30903561	30903561	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr18:30903561C>T	ENST00000383096.3	-	11	1098	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	CCDC178_ENST00000403303.1_Missense_Mutation_p.E306K|CCDC178_ENST00000402325.1_Missense_Mutation_p.E306K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E306K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E306K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E306K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E306K|CCDC178_ENST00000579916.1_Intron			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	306								p.E306K(2)									AAAGCTTCTTCAAGTTCTTCA	0.308																																						ENST00000383096.3																			2	Substitution - Missense(2)	p.E306K(2)	prostate(2)								c.(916-918)Gaa>Aaa		coiled-coil domain containing 178							52.0	50.0	50.0					18																	30903561		2200	4294	6494	SO:0001583	missense	374864							g.chr18:30903561C>T	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.916G>A	18.37:g.30903561C>T	ENSP00000372576:p.Glu306Lys					CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.E306K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E306K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E306K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E306K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E306K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E306K	p.E306K							11	1098	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.916G>A	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	9.815	1.184302	0.21870	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	4.52	-2.3	0.06785	.	.	.	.	.	T	0.15478	0.0373	L	0.29908	0.895	0.09310	N	0.999997	B;B;B;B	0.20052	0.041;0.041;0.041;0.041	B;B;B;B	0.19666	0.026;0.026;0.026;0.026	T	0.37549	-0.9701	9	0.06625	T	0.88	-3.2226	5.5523	0.17097	0.0:0.3054:0.4214:0.2732	.	306;306;306;306	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	K	306	ENSP00000385591:E306K;ENSP00000372576:E306K;ENSP00000300227:E306K;ENSP00000385867:E306K;ENSP00000385234:E306K	ENSP00000300227:E306K	E	-	1	0	C18orf34	29157559	0.099000	0.21834	0.270000	0.24601	0.006000	0.05464	-0.104000	0.10923	-0.630000	0.05567	-0.142000	0.14014	GAA		0.308	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		9	47	9	47	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57640708	57640708	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr19:57640708T>C	ENST00000254181.4	+	4	1119	c.665T>C	c.(664-666)tTg>tCg	p.L222S	USP29_ENST00000598197.1_Missense_Mutation_p.L222S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	222					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.L222S(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATAGAGATTTGAAACTCGGG	0.363																																						ENST00000254181.4																			1	Substitution - Missense(1)	p.L222S(1)	prostate(1)	breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(664-666)tTg>tCg		ubiquitin specific peptidase 29							60.0	65.0	63.0					19																	57640708		2202	4300	6502	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640708T>C		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.665T>C	19.37:g.57640708T>C	ENSP00000254181:p.Leu222Ser					USP29_ENST00000598197.1_Missense_Mutation_p.L222S	p.L222S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1119	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	222						Missense_Mutation	SNP	ENST00000254181.4	37	c.665T>C	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	T	4.385	0.071011	0.08436	.	.	ENSG00000131864	ENST00000254181	T	0.47528	0.84	2.69	-0.933	0.10431	.	1.601390	0.04661	N	0.408918	T	0.26122	0.0637	N	0.20986	0.625	0.09310	N	1	B	0.22276	0.067	B	0.16289	0.015	T	0.13019	-1.0525	10	0.02654	T	1	-0.4415	4.104	0.10028	0.0:0.517:0.2059:0.2771	.	222	Q9HBJ7	UBP29_HUMAN	S	222	ENSP00000254181:L222S	ENSP00000254181:L222S	L	+	2	0	USP29	62332520	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.086000	0.11233	-0.132000	0.11557	-0.462000	0.05337	TTG		0.363	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			55	139	55	139	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26688423	26688423	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr22:26688423C>A	ENST00000248933.6	+	2	241	c.146C>A	c.(145-147)tCa>tAa	p.S49*	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000529632.2_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.S49*			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	49					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.S49*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTCCTGCCCTCAGGAGCCCCG	0.582																																						ENST00000529632.2																			1	Substitution - Nonsense(1)	p.S49*(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(145-147)tCa>tAa		seizure related 6 homolog (mouse)-like							48.0	41.0	44.0					22																	26688423		2203	4300	6503	SO:0001587	stop_gained	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26688423C>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.146C>A	22.37:g.26688423C>A	ENSP00000248933:p.Ser49*					SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.S49*	p.S49*	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			2	342	+			49					A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Nonsense_Mutation	SNP	ENST00000248933.6	37	c.146C>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	36	5.600567	0.96614	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	.	.	.	3.98	0.5	0.16919	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6447	0.17582	0.0:0.6487:0.1604:0.191	.	.	.	.	X	49	.	ENSP00000248933:S49X	S	+	2	0	SEZ6L	25018423	0.007000	0.16637	0.085000	0.20634	0.139000	0.21198	0.732000	0.26072	0.077000	0.16863	0.508000	0.49915	TCA		0.582	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			31	66	31	66	---	---	---	---
DUSP18	150290	broad.mit.edu	37	22	31059967	31059967	+	Silent	SNP	G	G	A	rs559815332		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr22:31059967G>A	ENST00000334679.3	-	2	529	c.24C>T	c.(22-24)ttC>ttT	p.F8F	DUSP18_ENST00000404885.1_Silent_p.F8F|DUSP18_ENST00000407308.1_Silent_p.F8F|DUSP18_ENST00000403268.1_Silent_p.F8F|DUSP18_ENST00000461301.1_Intron	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	8					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.F8F(2)		large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ACTGAACTGGGAAGGCACACG	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20581	0.0		0.0	False		,,,				2504	0.0					ENST00000403268.1																			2	Substitution - coding silent(2)	p.F8F(2)	prostate(2)	large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						c.(22-24)ttC>ttT		dual specificity phosphatase 18							42.0	40.0	41.0					22																	31059967		2203	4300	6503	SO:0001819	synonymous_variant	150290					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:31059967G>A	AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.24C>T	22.37:g.31059967G>A						DUSP18_ENST00000404885.1_Silent_p.F8F|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000334679.3_Silent_p.F8F|DUSP18_ENST00000407308.1_Silent_p.F8F	p.F8F			Q8NEJ0	DUS18_HUMAN			2	494	-			8					B3KPA4	Silent	SNP	ENST00000334679.3	37	c.24C>T	CCDS13883.1																																																																																				0.562	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321400.1			16	36	16	36	---	---	---	---
GARS	2617	broad.mit.edu	37	7	30661990	30661992	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:30661990_30661992delAAG	ENST00000389266.3	+	12	1766_1768	c.1525_1527delAAG	c.(1525-1527)aagdel	p.K510del		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	510					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TAAGGCATATAAGAAGGATGCAA	0.404																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(1525-1527)aagdel		glycyl-tRNA synthetase	Glycine(DB00145)																																			SO:0001651	inframe_deletion	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30661990_30661992delAAG	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1525_1527delAAG	7.37:g.30661993_30661995delAAG	ENSP00000373918:p.Lys510del						p.K510del	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			12	1766_1768	+			510					B3KQA2|B4DIA0|Q969Y1	In_Frame_Del	DEL	ENST00000389266.3	37	c.1525_1527delAAG	CCDS43564.1																																																																																				0.404	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		8	322	8	322	---	---	---	---
MYEOV	26579	broad.mit.edu	37	11	69063421	69063425	+	Frame_Shift_Del	DEL	CTTTA	CTTTA	-	rs527553012		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:69063421_69063425delCTTTA	ENST00000308946.3	+	3	954_958	c.504_508delCTTTA	c.(502-510)gcctttagafs	p.FR169fs	MYEOV_ENST00000535407.1_Frame_Shift_Del_p.FR111fs|MYEOV_ENST00000441339.2_Frame_Shift_Del_p.FR169fs	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	169										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TGGGAGAAGCCTTTAGAGTGGGCGT	0.585																																						ENST00000535407.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(328-336)gcctttagafs		myeloma overexpressed																																				SO:0001589	frameshift_variant	26579							g.chr11:69063421_69063425delCTTTA	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.504_508delCTTTA	11.37:g.69063421_69063425delCTTTA	ENSP00000308330:p.Phe169fs					MYEOV_ENST00000308946.3_Frame_Shift_Del_p.FR169fs|MYEOV_ENST00000441339.2_Frame_Shift_Del_p.FR169fs	p.FR111fs			Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	2	973_977	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		169					Q9UGN6|Q9UGN7	Frame_Shift_Del	DEL	ENST00000308946.3	37	c.330_334delCTTTA	CCDS8190.1																																																																																				0.585	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			90	356	90	356	---	---	---	---
PPP5C	5536	broad.mit.edu	37	19	46850390	46850400	+	Frame_Shift_Del	DEL	GAGCCCCCCCG	GAGCCCCCCCG	-	rs376984861|rs150667064	byFrequency	TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr19:46850390_46850400delGAGCCCCCCCG	ENST00000012443.4	+	1	140_150	c.37_47delGAGCCCCCCCG	c.(37-48)gagcccccccggfs	p.EPPR13fs	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	13					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)	p.R16fs*7(1)|p.P14H(1)		endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGAGTGTGCTGAGCCCCCCCGGGACGAACCC	0.687											OREG0025570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000012443.4																			2	Substitution - Missense(1)|Insertion - Frameshift(1)	p.R16fs*7(1)|p.P14H(1)	ovary(1)|endometrium(1)	endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18						c.(37-48)gagcccccccggfs		protein phosphatase 5, catalytic subunit																																				SO:0001589	frameshift_variant	5536				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr19:46850390_46850400delGAGCCCCCCCG		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.37_47delGAGCCCCCCCG	19.37:g.46850390_46850400delGAGCCCCCCCG	ENSP00000012443:p.Glu13fs		OREG0025570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942	PPP5C_ENST00000391919.1_5'UTR	p.EPPR13fs	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)	1	140_150	+		Ovarian(192;0.0731)|all_neural(266;0.196)	13					Q16722|Q53XV2	Frame_Shift_Del	DEL	ENST00000012443.4	37	c.37_47delGAGCCCCCCCG	CCDS12684.1																																																																																				0.687	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		7	9	7	9	---	---	---	---
