#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CUX2	23316	broad.mit.edu	37	12	111748437	111748437	+	Silent	SNP	G	G	A	rs374551900		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr12:111748437G>A	ENST00000261726.6	+	15	2005	c.1851G>A	c.(1849-1851)tcG>tcA	p.S617S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	617					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGTTCCTGTCGGATGAGCAGA	0.652																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(1849-1851)tcG>tcA		cut-like homeobox 2		A		1,4149		0,1,2074	40.0	44.0	42.0		1851	-10.0	0.6	12		42	0,8416		0,0,4208	no	coding-synonymous	CUX2	NM_015267.3		0,1,6282	AA,AG,GG		0.0,0.0241,0.0080		617/1487	111748437	1,12565	2075	4208	6283	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111748437G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1851G>A	12.37:g.111748437G>A							p.S617S	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			15	2005	+			617					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.1851G>A	CCDS41837.1																																																																																				0.652	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		27	28	0	0	0	1	0	27	28				
AGXT2	64902	broad.mit.edu	37	5	35037113	35037113	+	Silent	SNP	G	G	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr5:35037113G>A	ENST00000231420.6	-	4	620	c.420C>T	c.(418-420)gtC>gtT	p.V140V	AC010368.1_ENST00000390793.2_RNA	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	140			V -> I (in dbSNP:rs37369). {ECO:0000269|Ref.2, ECO:0000269|Ref.3}.		cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GGTGGAAGAAGACGGTGCTTG	0.517																																						ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(418-420)gtC>gtT		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						112.0	108.0	109.0					5																	35037113		2203	4300	6503	SO:0001819	synonymous_variant	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35037113G>A	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.420C>T	5.37:g.35037113G>A							p.V140V	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	4	620	-	all_lung(31;4.52e-05)		140		V -> I (in dbSNP:rs37369).			B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Silent	SNP	ENST00000231420.6	37	c.420C>T	CCDS3908.1																																																																																				0.517	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		7	59	0	0	0	1	0	7	59				
HTT	3064	broad.mit.edu	37	4	3214422	3214422	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr4:3214422G>A	ENST00000355072.5	+	49	6905	c.6760G>A	c.(6760-6762)Gtg>Atg	p.V2254M		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2254					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAAATTCGTGGTGGCAACCCT	0.547																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(6760-6762)Gtg>Atg		huntingtin							95.0	98.0	97.0					4																	3214422		2002	4166	6168	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3214422G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.6760G>A	4.37:g.3214422G>A	ENSP00000347184:p.Val2254Met						p.V2254M	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	49	6905	+		all_epithelial(65;0.18)	2254					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.6760G>A	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627425	0.28978	.	.	ENSG00000197386	ENST00000355072	T	0.06371	3.31	5.51	5.51	0.81932	.	0.274248	0.37136	N	0.002233	T	0.12518	0.0304	M	0.63428	1.95	0.37060	D	0.898032	P	0.50943	0.94	P	0.44394	0.448	T	0.08764	-1.0706	10	0.33940	T	0.23	.	19.4195	0.94715	0.0:0.0:1.0:0.0	.	2254	P42858	HD_HUMAN	M	2254	ENSP00000347184:V2254M	ENSP00000347184:V2254M	V	+	1	0	HTT	3184220	1.000000	0.71417	0.999000	0.59377	0.061000	0.15899	5.194000	0.65125	2.576000	0.86940	0.609000	0.83330	GTG		0.547	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		15	74	0	0	0	1	0	15	74				
KRT6A	3853	broad.mit.edu	37	12	52886575	52886575	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr12:52886575C>T	ENST00000330722.6	-	1	466	c.398G>A	c.(397-399)gGa>gAa	p.G133E		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	133	Head.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGGATGCCTCCAGGGGGGCA	0.632																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(397-399)gGa>gAa		keratin 6A							66.0	64.0	64.0					12																	52886575		2203	4297	6500	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52886575C>T	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.398G>A	12.37:g.52886575C>T	ENSP00000369317:p.Gly133Glu						p.G133E	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	466	-			133			Head.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.398G>A	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484751	0.84854	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.93906	-3.31	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000017	D	0.97636	0.9225	H	0.94771	3.58	0.52501	D	0.999959	D	0.76494	0.999	D	0.72625	0.978	D	0.98505	1.0616	10	0.72032	D	0.01	.	17.444	0.87573	0.0:1.0:0.0:0.0	.	133	P02538	K2C6A_HUMAN	E	133;89	ENSP00000369317:G133E	ENSP00000369317:G133E	G	-	2	0	KRT6A	51172842	0.979000	0.34478	1.000000	0.80357	0.992000	0.81027	2.165000	0.42396	2.626000	0.88956	0.549000	0.68633	GGA		0.632	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		22	23	0	0	0	1	0	22	23				
NCOA3	8202	broad.mit.edu	37	20	46279830	46279830	+	Silent	SNP	G	G	A	rs147918555	byFrequency	TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr20:46279830G>A	ENST00000371998.3	+	20	3947	c.3756G>A	c.(3754-3756)caG>caA	p.Q1252Q	NCOA3_ENST00000341724.6_Silent_p.Q1178Q|NCOA3_ENST00000372004.3_Silent_p.Q1248Q|NCOA3_ENST00000371997.3_Silent_p.Q1243Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1252	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1252Q(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.547													g|||	52	0.0103834	0.0053	0.0086	5008	,	,		14808	0.006		0.0	False		,,,				2504	0.0337					ENST00000372004.3																			3	Substitution - coding silent(3)	p.Q1252Q(3)	lung(2)|prostate(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3742-3744)caG>caA		nuclear receptor coactivator 3							47.0	54.0	51.0					20																	46279830		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279830G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3756G>A	20.37:g.46279830G>A						NCOA3_ENST00000371997.3_Silent_p.Q1243Q|NCOA3_ENST00000341724.6_Silent_p.Q1178Q|NCOA3_ENST00000371998.3_Silent_p.Q1252Q	p.Q1248Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3960	+			1252		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3744G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		6	54	0	0	0	1	0	6	54				
IFT140	9742	broad.mit.edu	37	16	1570263	1570263	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr16:1570263T>C	ENST00000426508.2	-	28	4105	c.3742A>G	c.(3742-3744)Atc>Gtc	p.I1248V	IFT140_ENST00000361339.5_Missense_Mutation_p.I442V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1248					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCAGCCATGATGTAGATTTCC	0.577																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3742-3744)Atc>Gtc		intraflagellar transport 140 homolog (Chlamydomonas)							146.0	139.0	141.0					16																	1570263		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1570263T>C	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3742A>G	16.37:g.1570263T>C	ENSP00000406012:p.Ile1248Val					IFT140_ENST00000361339.5_Missense_Mutation_p.I442V	p.I1248V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			28	4105	-		Hepatocellular(780;0.219)	1248					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.3742A>G	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	T	9.602	1.129065	0.21041	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.50001	0.76;0.76	5.98	-0.127	0.13510	.	0.305580	0.35262	N	0.003328	T	0.21186	0.0510	N	0.11131	0.1	0.53005	D	0.999961	B;B	0.18013	0.014;0.025	B;B	0.18871	0.007;0.023	T	0.25745	-1.0123	10	0.06099	T	0.92	.	9.9104	0.41401	0.0:0.3498:0.0:0.6502	.	1248;935	Q96RY7;B4DR58	IF140_HUMAN;.	V	1248;442;1248	ENSP00000354895:I442V;ENSP00000406012:I1248V	ENSP00000354895:I442V	I	-	1	0	IFT140	1510264	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	0.996000	0.29719	-0.274000	0.09232	0.529000	0.55759	ATC		0.577	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		50	65	0	0	0	1	0	50	65				
PLG	5340	broad.mit.edu	37	6	161143573	161143573	+	Silent	SNP	G	G	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr6:161143573G>A	ENST00000308192.9	+	10	1293	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	410	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACCGGCACCAGAAGACCCCAG	0.483																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(1228-1230)caG>caA		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						132.0	127.0	129.0					6																	161143573		2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161143573G>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1230G>A	6.37:g.161143573G>A							p.Q410Q	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	10	1293	+			410			Kringle 4.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.1230G>A	CCDS5279.1																																																																																				0.483	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		12	151	0	0	0	1	0	12	151				
TBR1	10716	broad.mit.edu	37	2	162275516	162275516	+	Silent	SNP	C	C	T			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr2:162275516C>T	ENST00000389554.3	+	4	1400	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	TBR1_ENST00000410035.1_Silent_p.F74F	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	361					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CGTTCACTTTCCCTGAGACTC	0.632																																						ENST00000389554.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						c.(1081-1083)ttC>ttT		T-box, brain, 1							99.0	96.0	97.0					2																	162275516		2203	4300	6503	SO:0001819	synonymous_variant	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162275516C>T	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1083C>T	2.37:g.162275516C>T						TBR1_ENST00000410035.1_Silent_p.F74F	p.F361F	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN			4	1400	+			361					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	ENST00000389554.3	37	c.1083C>T	CCDS33310.1																																																																																				0.632	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		43	72	0	0	0	1	0	43	72				
RAD50	10111	broad.mit.edu	37	5	131893129	131893129	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr5:131893129A>G	ENST00000265335.6	+	1	500	c.113A>G	c.(112-114)aAt>aGt	p.N38S	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	38					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTGGACCCAATGGGGCGGGA	0.453								Homologous recombination																														ENST00000265335.6																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(112-114)aAt>aGt	Homologous recombination	RAD50 homolog (S. cerevisiae)							90.0	98.0	95.0					5																	131893129		2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131893129A>G	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.113A>G	5.37:g.131893129A>G	ENSP00000265335:p.Asn38Ser					RAD50_ENST00000378823.3_5'UTR	p.N38S			Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	500	+		all_cancers(142;0.0368)|Breast(839;0.198)	38					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.113A>G	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	A	30	5.053589	0.93793	.	.	ENSG00000113522	ENST00000265335;ENST00000453394	T;T	0.19669	2.13;2.13	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.43166	0.1235	L	0.58302	1.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.33085	-0.9882	10	0.87932	D	0	-26.4795	13.9504	0.64113	1.0:0.0:0.0:0.0	.	38	Q92878	RAD50_HUMAN	S	38	ENSP00000265335:N38S;ENSP00000400049:N38S	ENSP00000265335:N38S	N	+	2	0	RAD50	131921028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.713000	0.91408	2.180000	0.69256	0.533000	0.62120	AAT		0.453	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		22	33	0	0	0	1	0	22	33				
TENM3	55714	broad.mit.edu	37	4	183245244	183245244	+	Missense_Mutation	SNP	C	C	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr4:183245244C>A	ENST00000511685.1	+	2	194	c.71C>A	c.(70-72)aCa>aAa	p.T24K	TENM3_ENST00000406950.2_Missense_Mutation_p.T24K			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	24	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CGGCGCTACACAAATTCCTCC	0.517																																						ENST00000511685.1																			0											c.(70-72)aCa>aAa		teneurin transmembrane protein 3							102.0	105.0	104.0					4																	183245244		1984	4171	6155	SO:0001583	missense	55714							g.chr4:183245244C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.71C>A	4.37:g.183245244C>A	ENSP00000424226:p.Thr24Lys					TENM3_ENST00000406950.2_Missense_Mutation_p.T24K	p.T24K							2	194	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.71C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785287	0.49997	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.39592	1.07;1.07;1.07	5.65	5.65	0.86999	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.55130	0.1901	M	0.66939	2.045	0.42251	D	0.991978	P;B	0.51240	0.943;0.446	P;B	0.54401	0.751;0.239	T	0.57608	-0.7782	9	0.87932	D	0	.	13.1248	0.59349	0.0:0.9278:0.0:0.0721	.	24;24	D6RGC5;Q9P273	.;TEN3_HUMAN	K	24	ENSP00000421320:T24K;ENSP00000424226:T24K;ENSP00000385276:T24K	ENSP00000385276:T24K	T	+	2	0	ODZ3	183482238	1.000000	0.71417	0.134000	0.22075	0.456000	0.32438	5.624000	0.67764	2.941000	0.99782	0.655000	0.94253	ACA		0.517	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			4	33	1	0	0.014758	1	0.014758	4	33				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000372004.3_Silent_p.Q1258Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A						NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		5	30	0	0	0	1	0	5	30				
CACNA1G	8913	broad.mit.edu	37	17	48646633	48646633	+	Silent	SNP	G	G	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr17:48646633G>A	ENST00000359106.5	+	3	462	c.462G>A	c.(460-462)cgG>cgA	p.R154R	CACNA1G_ENST00000510366.1_Silent_p.R154R|CACNA1G_ENST00000354983.4_Silent_p.R154R|CACNA1G_ENST00000514717.1_Silent_p.R154R|CACNA1G_ENST00000507510.2_Silent_p.R154R|CACNA1G_ENST00000416767.4_Silent_p.R154R|CACNA1G_ENST00000429973.2_Silent_p.R154R|CACNA1G_ENST00000514181.1_Silent_p.R154R|CACNA1G_ENST00000513964.1_Silent_p.R154R|CACNA1G_ENST00000503485.1_Silent_p.R154R|CACNA1G_ENST00000505165.1_Silent_p.R154R|CACNA1G_ENST00000442258.2_Silent_p.R154R|CACNA1G_ENST00000502264.1_Silent_p.R154R|CACNA1G_ENST00000515411.1_Silent_p.R154R|CACNA1G_ENST00000360761.4_Silent_p.R154R|CACNA1G_ENST00000510115.1_Silent_p.R154R|CACNA1G_ENST00000514079.1_Silent_p.R154R|CACNA1G_ENST00000515765.1_Silent_p.R154R|CACNA1G_ENST00000507609.1_Silent_p.R154R|CACNA1G_ENST00000513689.2_Silent_p.R154R|CACNA1G_ENST00000352832.5_Silent_p.R154R|CACNA1G_ENST00000507336.1_Silent_p.R154R|CACNA1G_ENST00000515165.1_Silent_p.R154R|CACNA1G_ENST00000512389.1_Silent_p.R154R|CACNA1G_ENST00000358244.5_Silent_p.R154R|CACNA1G_ENST00000507896.1_Silent_p.R154R	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	154					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTGGAACCGGCTTGACTTTT	0.562																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(460-462)cgG>cgA		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						128.0	125.0	126.0					17																	48646633		1985	4168	6153	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48646633G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.462G>A	17.37:g.48646633G>A						CACNA1G_ENST00000510115.1_Silent_p.R154R|CACNA1G_ENST00000502264.1_Silent_p.R154R|CACNA1G_ENST00000510366.1_Silent_p.R154R|CACNA1G_ENST00000358244.5_Silent_p.R154R|CACNA1G_ENST00000442258.2_Silent_p.R154R|CACNA1G_ENST00000360761.4_Silent_p.R154R|CACNA1G_ENST00000354983.4_Silent_p.R154R|CACNA1G_ENST00000507896.1_Silent_p.R154R|CACNA1G_ENST00000429973.2_Silent_p.R154R|CACNA1G_ENST00000507510.2_Silent_p.R154R|CACNA1G_ENST00000507609.1_Silent_p.R154R|CACNA1G_ENST00000507336.1_Silent_p.R154R|CACNA1G_ENST00000514181.1_Silent_p.R154R|CACNA1G_ENST00000512389.1_Silent_p.R154R|CACNA1G_ENST00000505165.1_Silent_p.R154R|CACNA1G_ENST00000416767.4_Silent_p.R154R|CACNA1G_ENST00000515765.1_Silent_p.R154R|CACNA1G_ENST00000503485.1_Silent_p.R154R|CACNA1G_ENST00000515411.1_Silent_p.R154R|CACNA1G_ENST00000515165.1_Silent_p.R154R|CACNA1G_ENST00000514717.1_Silent_p.R154R|CACNA1G_ENST00000513964.1_Silent_p.R154R|CACNA1G_ENST00000514079.1_Silent_p.R154R|CACNA1G_ENST00000513689.2_Silent_p.R154R|CACNA1G_ENST00000359106.5_Silent_p.R154R	p.R154R	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		3	834	+	Breast(11;6.7e-17)		154					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.462G>A	CCDS45730.1																																																																																				0.562	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		4	65	0	0	0	1	0	4	65				
CCS	9973	broad.mit.edu	37	11	66368006	66368006	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr11:66368006C>T	ENST00000533244.1	+	5	916	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	CCS_ENST00000310190.4_Nonsense_Mutation_p.Q140*	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	159	Superoxide dismutase-like.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						TGGGGGCCCCCAGGACTCTGA	0.562																																						ENST00000533244.1																			0				breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(475-477)Cag>Tag		copper chaperone for superoxide dismutase							108.0	108.0	108.0					11																	66368006		2200	4295	6495	SO:0001587	stop_gained	9973				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding	g.chr11:66368006C>T	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.475C>T	11.37:g.66368006C>T	ENSP00000436318:p.Gln159*					CCS_ENST00000310190.4_Nonsense_Mutation_p.Q140*	p.Q159*	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN			5	916	+			159			Superoxide dismutase-like.		Q2M366|Q8NEV0	Nonsense_Mutation	SNP	ENST00000533244.1	37	c.475C>T	CCDS8146.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607363	0.87157	.	.	ENSG00000173992	ENST00000533244;ENST00000310190	.	.	.	5.23	0.893	0.19236	.	0.672019	0.16180	N	0.225891	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	8.3033	0.32027	0.2963:0.3106:0.3931:0.0	.	.	.	.	X	159;140	.	ENSP00000307870:Q140X	Q	+	1	0	CCS	66124582	0.252000	0.23972	0.865000	0.33974	0.939000	0.58152	0.579000	0.23788	0.357000	0.24183	0.655000	0.94253	CAG		0.562	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		4	70	0	0	0	1	0	4	70				
TRBV6-5	28602	broad.mit.edu	37	7	142180997	142180997	+	RNA	SNP	G	G	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr7:142180997G>A	ENST00000390368.2	-	0	19									T cell receptor beta variable 6-5																		GTGCATTGATGAAAGGGGAGC	0.592																																						ENST00000390368.2																			0																				40.0	45.0	43.0					7																	142180997		1936	4153	6089			0							g.chr7:142180997G>A	L36092		7q34	2012-02-07			ENSG00000211721	ENSG00000211721		"""T cell receptors / TRB locus"""	12230	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV65, TCRBV13S1, TCRBV6S5			OTTHUMG00000158519		7.37:g.142180997G>A														0	19	-									RNA	SNP	ENST00000390368.2	37																																																																																						0.592	TRBV6-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351225.1	NG_001333		3	27	0	0	0	1	0	3	27				
GEMIN4	50628	broad.mit.edu	37	17	648477	648477	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr17:648477A>G	ENST00000319004.5	-	2	2924	c.2806T>C	c.(2806-2808)Tgg>Cgg	p.W936R	GEMIN4_ENST00000576778.1_Missense_Mutation_p.W925R	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	936					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACGTGGTTCCAGCCTTCCAGA	0.577																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(2773-2775)Tgg>Cgg		gem (nuclear organelle) associated protein 4							16.0	17.0	16.0					17																	648477		1938	4127	6065	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:648477A>G	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.2806T>C	17.37:g.648477A>G	ENSP00000321706:p.Trp936Arg					GEMIN4_ENST00000319004.5_Missense_Mutation_p.W936R	p.W925R			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	4114	-		Myeloproliferative disorder(207;0.204)	936					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.2773T>C	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.261561	0.59431	.	.	ENSG00000179409	ENST00000319004	T	0.14391	2.51	5.83	5.83	0.93111	.	0.136473	0.56097	D	0.000022	T	0.33118	0.0852	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.05305	-1.0893	10	0.72032	D	0.01	-8.3213	9.8036	0.40779	0.9242:0.0:0.0758:0.0	.	936	P57678	GEMI4_HUMAN	R	936	ENSP00000321706:W936R	ENSP00000321706:W936R	W	-	1	0	GEMIN4	595227	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.519000	0.81809	2.235000	0.73313	0.533000	0.62120	TGG		0.577	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		2	2	0	0	0	1	0	2	2				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	35	0	0	0	1	0	20	35				
SPTA1	6708	broad.mit.edu	37	1	158596678	158596678	+	Silent	SNP	A	A	G			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr1:158596678A>G	ENST00000368147.4	-	41	5964	c.5784T>C	c.(5782-5784)taT>taC	p.Y1928Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1928					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTGAAAGGCATAATCGTCTT	0.438																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5782-5784)taT>taC		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							172.0	168.0	169.0					1																	158596678		1873	4113	5986	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158596678A>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5784T>C	1.37:g.158596678A>G						SPTA1_ENST00000368147.3_Silent_p.Y1925Y|SPTA1_ENST00000461624.1_5'UTR	p.Y1928Y	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			41	5964	-	all_hematologic(112;0.0378)		1928					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.5784T>C	CCDS41423.1																																																																																				0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		70	84	0	0	0	1	0	70	84				
ATP2A1	487	broad.mit.edu	37	16	28909640	28909640	+	Silent	SNP	G	G	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr16:28909640G>A	ENST00000357084.3	+	14	1899	c.1632G>A	c.(1630-1632)aaG>aaA	p.K544K	ATP2A1_ENST00000536376.1_Silent_p.K419K|ATP2A1_ENST00000395503.4_Silent_p.K544K	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	544					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGAAGGAAAAGATCATGGCGG	0.652																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(1630-1632)aaG>aaA		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							58.0	65.0	63.0					16																	28909640		2197	4300	6497	SO:0001819	synonymous_variant	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28909640G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1632G>A	16.37:g.28909640G>A						ATP2A1_ENST00000536376.1_Silent_p.K419K|ATP2A1_ENST00000357084.3_Silent_p.K544K	p.K544K	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			14	1816	+			544					A8K5J9|B3KY17|O14984	Silent	SNP	ENST00000357084.3	37	c.1632G>A	CCDS10643.1																																																																																				0.652	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		6	84	0	0	0	1	0	6	84				
FRG1B	284802	broad.mit.edu	37	20	29631557	29631557	+	Missense_Mutation	SNP	A	A	G	rs11525721		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr20:29631557A>G	ENST00000278882.3	+	7	733	c.353A>G	c.(352-354)aAa>aGa	p.K118R	FRG1B_ENST00000358464.4_Missense_Mutation_p.K118R			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	118								p.K118R(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGTGCTGAAAAAGAAACCAAG	0.333																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.K118R(2)	endometrium(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(352-354)aAa>aGa																																						SO:0001583	missense	0							g.chr20:29631557A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.353A>G	20.37:g.29631557A>G	ENSP00000278882:p.Lys118Arg					FRG1B_ENST00000358464.4_Missense_Mutation_p.K118R	p.K118R							7	733	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.353A>G		.	.	.	.	.	.	.	.	.	.	a	0.014	-1.602257	0.00849	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	2.03	1.07	0.20283	.	0.100689	0.64402	N	0.000003	T	0.12475	0.0303	.	.	.	0.22378	N	0.999156	B	0.02656	0.0	B	0.01281	0.0	T	0.34079	-0.9843	8	0.02654	T	1	.	7.0418	0.25025	0.1556:0.0:0.8444:0.0	rs11525721	118	Q9BZ01	FRG1B_HUMAN	R	118	.	ENSP00000278882:K118R	K	+	2	0	FRG1B	28245218	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	4.500000	0.60387	0.419000	0.25927	-0.343000	0.07986	AAA		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	42	0	0	0	1	0	3	42				
INPP4B	8821	broad.mit.edu	37	4	143094935	143094935	+	Silent	SNP	T	T	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr4:143094935T>A	ENST00000513000.1	-	17	1642	c.1209A>T	c.(1207-1209)tcA>tcT	p.S403S	INPP4B_ENST00000509777.1_Silent_p.S403S|INPP4B_ENST00000308502.4_Silent_p.S403S|INPP4B_ENST00000262992.4_Silent_p.S403S|INPP4B_ENST00000508116.1_Silent_p.S403S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	403					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TGTTTTCAGGTGAATAGTAAA	0.383																																						ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1207-1209)tcA>tcT		inositol polyphosphate-4-phosphatase, type II, 105kDa							289.0	271.0	277.0					4																	143094935		2203	4300	6503	SO:0001819	synonymous_variant	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143094935T>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1209A>T	4.37:g.143094935T>A						INPP4B_ENST00000262992.4_Silent_p.S403S|INPP4B_ENST00000308502.4_Silent_p.S403S|INPP4B_ENST00000508116.1_Silent_p.S403S|INPP4B_ENST00000509777.1_Silent_p.S403S	p.S403S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			17	1642	-	all_hematologic(180;0.158)		403					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	c.1209A>T	CCDS3757.1																																																																																				0.383	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		36	66	0	0	0	1	0	36	66				
MC2R	4158	broad.mit.edu	37	18	13884744	13884744	+	Silent	SNP	G	G	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr18:13884744G>A	ENST00000327606.3	-	2	954	c.774C>T	c.(772-774)ttC>ttT	p.F258F		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	258					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CGTTCACCTGGAAGAGAGACA	0.517																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(772-774)ttC>ttT		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)						103.0	93.0	96.0					18																	13884744		2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884744G>A		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.774C>T	18.37:g.13884744G>A							p.F258F	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	954	-			258					A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	c.774C>T	CCDS11869.1																																																																																				0.517	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			29	30	0	0	0	1	0	29	30				
NEDD4	4734	broad.mit.edu	37	15	56132818	56132818	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr15:56132818C>T	ENST00000508342.1	-	16	3502	c.3203G>A	c.(3202-3204)gGc>gAc	p.G1068D	NEDD4_ENST00000338963.2_Missense_Mutation_p.G996D|NEDD4_ENST00000506154.1_Missense_Mutation_p.G1052D|NEDD4_ENST00000435532.3_Missense_Mutation_p.G649D	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1068	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAACAGTTTGCCATGATAAAC	0.338																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(3202-3204)gGc>gAc		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							116.0	119.0	118.0					15																	56132818		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56132818C>T	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3203G>A	15.37:g.56132818C>T	ENSP00000424827:p.Gly1068Asp					NEDD4_ENST00000338963.2_Missense_Mutation_p.G996D|NEDD4_ENST00000435532.3_Missense_Mutation_p.G649D|NEDD4_ENST00000506154.1_Missense_Mutation_p.G1052D	p.G1068D			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	16	3502	-			1068			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.3203G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.067510|5.067510	0.93898|0.93898	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.49720	.|0.77;0.77;0.77;0.77	5.99|5.99	5.99|5.99	0.97316|0.97316	.|HECT (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77157|0.77157	0.4089|0.4089	M|M	0.91140|0.91140	3.18|3.18	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.997;0.999;0.999	T|T	0.81090|0.81090	-0.1090|-0.1090	5|10	.|0.87932	.|D	.|0	.|.	19.5255|19.5255	0.95203|0.95203	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1052;649;1068;996	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	T|D	659|1068;649;996;1052	.|ENSP00000424827:G1068D;ENSP00000410613:G649D;ENSP00000345530:G996D;ENSP00000422705:G1052D	.|ENSP00000345530:G996D	A|G	-|-	1|2	0|0	NEDD4|NEDD4	53920110|53920110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.815000|7.815000	0.86186|0.86186	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.338	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		4	115	0	0	0	1	0	4	115				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	218	0	0	0	1	0	4	218				
PRSS16	10279	broad.mit.edu	37	6	27216911	27216911	+	Missense_Mutation	SNP	G	G	A	rs149942995		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr6:27216911G>A	ENST00000230582.3	+	4	385	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	124					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)	p.A124T(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGCCTGGGGCGCCCTGGTGAT	0.592																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			1	Substitution - Missense(1)	p.A124T(1)	lung(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(370-372)Gcc>Acc		protease, serine, 16 (thymus)		G	THR/ALA	0,4406		0,0,2203	63.0	69.0	67.0		370	4.0	1.0	6	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRSS16	NM_005865.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	124/515	27216911	1,13005	2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27216911G>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.370G>A	6.37:g.27216911G>A	ENSP00000230582:p.Ala124Thr					PRSS16_ENST00000421826.2_Intron	p.A124T	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			4	385	+			124					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.370G>A	CCDS4623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.61|15.61	2.885391|2.885391	0.51908|0.51908	0.0|0.0	1.16E-4|1.16E-4	ENSG00000112812|ENSG00000112812	ENST00000230582;ENST00000343467;ENST00000348953|ENST00000485993;ENST00000475106	T|.	0.23147|.	1.92|.	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84257|0.84257	0.5432|0.5432	H|H	0.95712|0.95712	3.71|3.71	0.58432|0.58432	D|D	0.999993|0.999993	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.91635|.	0.998;0.994;0.999|.	D|D	0.88693|0.88693	0.3210|0.3210	10|5	0.87932|.	D|.	0|.	-32.899|-32.899	14.0762|14.0762	0.64891|0.64891	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	15;124;124|.	Q7Z5N6;C9JI59;Q9NQE7|.	.;.;TSSP_HUMAN|.	T|H	124|15	ENSP00000230582:A124T|.	ENSP00000230582:A124T|.	A|R	+|+	1|2	0|0	PRSS16|PRSS16	27324890|27324890	0.999000|0.999000	0.42202|0.42202	0.995000|0.995000	0.50966|0.50966	0.009000|0.009000	0.06853|0.06853	4.378000|4.378000	0.59568|0.59568	2.249000|2.249000	0.74217|0.74217	0.557000|0.557000	0.71058|0.71058	GCC|CGC		0.592	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			7	65	0	0	0	1	0	7	65				
ARAP2	116984	broad.mit.edu	37	4	36121334	36121334	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr4:36121334C>T	ENST00000303965.4	-	24	4390	c.3901G>A	c.(3901-3903)Gaa>Aaa	p.E1301K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1301					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ACTTGATCTTCTTTAACCTGT	0.299																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(3901-3903)Gaa>Aaa		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							147.0	150.0	149.0					4																	36121334		2203	4298	6501	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36121334C>T	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3901G>A	4.37:g.36121334C>T	ENSP00000302895:p.Glu1301Lys						p.E1301K	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			24	4390	-			1301					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.3901G>A	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388493	0.82902	.	.	ENSG00000047365	ENST00000303965	T	0.09817	2.94	5.06	4.22	0.49857	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.114313	0.64402	D	0.000016	T	0.18759	0.0450	M	0.64404	1.975	0.41743	D	0.989627	P	0.50443	0.935	P	0.48368	0.575	T	0.01791	-1.1273	10	0.66056	D	0.02	.	13.5057	0.61483	0.0:0.925:0.0:0.0749	.	1301	Q8WZ64	ARAP2_HUMAN	K	1301	ENSP00000302895:E1301K	ENSP00000302895:E1301K	E	-	1	0	ARAP2	35797729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.011000	0.70760	1.369000	0.46134	0.585000	0.79938	GAA		0.299	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		19	55	0	0	0	1	0	19	55				
HCRTR2	3062	broad.mit.edu	37	6	55113495	55113495	+	Silent	SNP	C	C	T			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr6:55113495C>T	ENST00000370862.3	+	2	618	c.282C>T	c.(280-282)gtC>gtT	p.V94V		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	94					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACTTCATAGTCAATCTTTCTC	0.453																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(280-282)gtC>gtT		hypocretin (orexin) receptor 2							231.0	207.0	215.0					6																	55113495		2203	4300	6503	SO:0001819	synonymous_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113495C>T	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.282C>T	6.37:g.55113495C>T							p.V94V	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	618	+	Lung NSC(77;0.107)|Renal(3;0.122)		94					Q5VTM0	Silent	SNP	ENST00000370862.3	37	c.282C>T	CCDS4956.1																																																																																				0.453	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			5	189	0	0	0	1	0	5	189				
FBLN2	2199	broad.mit.edu	37	3	13670699	13670699	+	Missense_Mutation	SNP	G	G	A	rs111284875		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr3:13670699G>A	ENST00000295760.7	+	12	2677	c.2608G>A	c.(2608-2610)Ggt>Agt	p.G870S	FBLN2_ENST00000535798.1_Missense_Mutation_p.G896S|FBLN2_ENST00000404922.3_Missense_Mutation_p.G917S|FBLN2_ENST00000492059.1_Missense_Mutation_p.G917S	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	870	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCACCGCTGCGGTGAGGGCCA	0.642																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(2749-2751)Ggt>Agt		fibulin 2		G	SER/GLY,SER/GLY,SER/GLY	0,4238		0,0,2119	44.0	50.0	48.0		2749,2749,2608	1.9	0.0	3	dbSNP_132	48	1,8467		0,1,4233	no	missense,missense,missense	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	56,56,56	0,1,6352	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging	917/1232,917/1232,870/1185	13670699	1,12705	2119	4234	6353	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13670699G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2608G>A	3.37:g.13670699G>A	ENSP00000295760:p.Gly870Ser					FBLN2_ENST00000535798.1_Missense_Mutation_p.G896S|FBLN2_ENST00000492059.1_Missense_Mutation_p.G917S|FBLN2_ENST00000295760.7_Missense_Mutation_p.G870S	p.G917S	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		13	2868	+			913			EGF-like 7; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.2749G>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004533	0.54254	0.0	1.18E-4	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	4.91	1.92	0.25849	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.192454	0.46758	N	0.000264	T	0.79964	0.4537	N	0.21142	0.635	0.51482	D	0.999927	P;B;P	0.45348	0.773;0.039;0.856	B;B;B	0.39339	0.297;0.014;0.1	T	0.71682	-0.4519	10	0.35671	T	0.21	.	5.4641	0.16634	0.2185:0.0:0.6403:0.1413	.	870;917;896	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	S	896;917;870;917	ENSP00000445705:G896S;ENSP00000384169:G917S;ENSP00000295760:G870S;ENSP00000420042:G917S	ENSP00000295760:G870S	G	+	1	0	FBLN2	13645700	0.999000	0.42202	0.002000	0.10522	0.922000	0.55478	2.720000	0.47252	0.064000	0.16427	0.655000	0.94253	GGT		0.642	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		10	27	0	0	0	1	0	10	27				
EYA1	2138	broad.mit.edu	37	8	72156845	72156845	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr8:72156845T>C	ENST00000340726.3	-	12	1772	c.1133A>G	c.(1132-1134)gAc>gGc	p.D378G	EYA1_ENST00000419131.1_Intron|EYA1_ENST00000388742.4_Missense_Mutation_p.D378G|EYA1_ENST00000303824.7_Missense_Mutation_p.D372G|EYA1_ENST00000388741.2_Missense_Mutation_p.D344G|EYA1_ENST00000388743.2_Missense_Mutation_p.D377G|EYA1_ENST00000388740.3_Missense_Mutation_p.D345G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	378					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TACTTCTAAGTCATTAAAAAA	0.279																																						ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(1132-1134)gAc>gGc		eyes absent homolog 1 (Drosophila)							38.0	39.0	38.0					8																	72156845		2202	4300	6502	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72156845T>C	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1133A>G	8.37:g.72156845T>C	ENSP00000342626:p.Asp378Gly					EYA1_ENST00000388743.2_Missense_Mutation_p.D377G|EYA1_ENST00000388742.4_Missense_Mutation_p.D378G|EYA1_ENST00000388741.2_Missense_Mutation_p.D344G|EYA1_ENST00000419131.1_Intron|EYA1_ENST00000388740.3_Missense_Mutation_p.D345G|EYA1_ENST00000303824.7_Missense_Mutation_p.D372G	p.D378G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		12	1772	-	Breast(64;0.046)		378					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.1133A>G	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620849	0.87460	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743	T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.64	5.64	0.86602	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.90205	0.6938	M	0.83118	2.625	0.80722	D	1	D;D;D;D	0.76494	0.994;0.999;0.999;0.994	D;D;D;D	0.79108	0.992;0.985;0.985;0.985	D	0.91663	0.5344	10	0.87932	D	0	-19.5901	15.8659	0.79063	0.0:0.0:0.0:1.0	.	372;305;345;378	A6NCB9;Q0P517;Q99502-2;Q99502	.;.;.;EYA1_HUMAN	G	378;378;346;345;372;344;377	ENSP00000373394:D378G;ENSP00000342626:D378G;ENSP00000373392:D345G;ENSP00000303221:D372G;ENSP00000373393:D344G;ENSP00000373395:D377G	ENSP00000303221:D372G	D	-	2	0	EYA1	72319399	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.961000	0.87903	2.152000	0.67230	0.528000	0.53228	GAC		0.279	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		9	15	0	0	0	1	0	9	15				
ZNF860	344787	broad.mit.edu	37	3	32031030	32031030	+	Silent	SNP	T	T	C			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr3:32031030T>C	ENST00000360311.4	+	2	1008	c.459T>C	c.(457-459)gaT>gaC	p.D153D		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						CTATCAAAGATCAGCTTGGAT	0.398																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(457-459)gaT>gaC		zinc finger protein 860							70.0	51.0	57.0					3																	32031030		692	1591	2283	SO:0001819	synonymous_variant	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031030T>C	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.459T>C	3.37:g.32031030T>C							p.D153D	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	1008	+			153					B4DFA4	Silent	SNP	ENST00000360311.4	37	c.459T>C	CCDS46784.1																																																																																				0.398	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			39	51	0	0	0	1	0	39	51				
CTAGE1	64693	broad.mit.edu	37	18	19995803	19995803	+	5'Flank	SNP	G	G	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr18:19995803G>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.P658S			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ACAAAGCCAGGGCCAGTTGCT	0.463																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(1972-1974)Cct>Tct		cutaneous T-cell lymphoma-associated antigen 1							125.0	138.0	134.0					18																	19995803		2203	4298	6501	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19995803G>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19995803G>A	Exception_encountered						p.P658S	NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			1	2075	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		658			Pro-rich.		B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.1972C>T		.	.	.	.	.	.	.	.	.	.	G	9.174	1.021926	0.19433	.	.	ENSG00000212710	ENST00000391403	T	0.09350	2.99	0.614	0.614	0.17603	.	.	.	.	.	T	0.12092	0.0294	L	0.55990	1.75	0.09310	N	1	P	0.40602	0.723	B	0.42112	0.376	T	0.19192	-1.0313	7	.	.	.	.	.	.	.	.	658	Q96RT6	CTGE2_HUMAN	S	658	ENSP00000375220:P658S	.	P	-	1	0	CTAGE1	18249801	0.194000	0.23325	0.056000	0.19401	0.080000	0.17528	0.218000	0.17622	0.581000	0.29539	0.298000	0.19748	CCT		0.463	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		10	278	0	0	0	1	0	10	278				
DSP	1832	broad.mit.edu	37	6	7576615	7576615	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr6:7576615C>T	ENST00000379802.3	+	19	3060	c.2719C>T	c.(2719-2721)Cgc>Tgc	p.R907C	DSP_ENST00000418664.2_Missense_Mutation_p.R907C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	907	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATGCTAAACGCCGCCAGGA	0.423																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(2719-2721)Cgc>Tgc		desmoplakin							98.0	102.0	100.0					6																	7576615		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7576615C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2719C>T	6.37:g.7576615C>T	ENSP00000369129:p.Arg907Cys					DSP_ENST00000418664.2_Missense_Mutation_p.R907C	p.R907C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	19	3060	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	907			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2719C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770351	0.90108	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.36340	1.26;1.96	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000002	T	0.37073	0.0990	L	0.34521	1.04	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	P;P	0.54706	0.543;0.759	T	0.09907	-1.0653	10	0.62326	D	0.03	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	954;907	Q4LE79;P15924	.;DESP_HUMAN	C	907;907;712	ENSP00000369129:R907C;ENSP00000396591:R907C	ENSP00000369129:R907C	R	+	1	0	DSP	7521614	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.346000	0.65992	2.865000	0.98341	0.655000	0.94253	CGC		0.423	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		32	40	0	0	0	1	0	32	40				
PTPRZ1	5803	broad.mit.edu	37	7	121676713	121676713	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr7:121676713T>C	ENST00000393386.2	+	18	5755	c.5344T>C	c.(5344-5346)Tat>Cat	p.Y1782H	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Y915H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1782	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGACTGATTATATCAATGC	0.303																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(5344-5346)Tat>Cat		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							110.0	106.0	107.0					7																	121676713		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121676713T>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5344T>C	7.37:g.121676713T>C	ENSP00000377047:p.Tyr1782His					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Y915H	p.Y1782H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			18	5755	+			1782			Tyrosine-protein phosphatase 1.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.5344T>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699533	0.88830	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.46451	0.87;0.87	5.5	5.5	0.81552	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.56097	D	0.000027	T	0.80904	0.4713	H	0.99689	4.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89784	0.3963	10	0.87932	D	0	.	15.6005	0.76620	0.0:0.0:0.0:1.0	.	921;915;1782	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	H	1782;915	ENSP00000377047:Y1782H;ENSP00000410000:Y915H	ENSP00000377047:Y1782H	Y	+	1	0	PTPRZ1	121463949	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.084000	0.62774	0.528000	0.53228	TAT		0.303	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		21	28	0	0	0	1	0	21	28				
TMEM41A	90407	broad.mit.edu	37	3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(466-468)tttfs		transmembrane protein 41A				0,4266		0,0,2133						1.0	0.8			116	1,8253		0,1,4126	no	frameshift	TMEM41A	NM_080652.3		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	90407					integral to membrane		g.chr3:185212517_185212518insA	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.468dupT	3.37:g.185212525_185212525dupA	ENSP00000406885:p.Phe156fs					TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	p.F156fs	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	562_563	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		156					A8K4B3|D3DNU2|Q6ZMJ0	Frame_Shift_Ins	INS	ENST00000421852.1	37	c.467_468insT	CCDS3271.1																																																																																				0.446	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		9	184						9	184	---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457|rs368917144	byFrequency	TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gctgcc>gcc	p.339_340AA>A	ZNF395_ENST00000523202.1_In_Frame_Del_p.339_340AA>A|ZNF395_ENST00000523095.1_In_Frame_Del_p.339_340AA>A	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1015-1020)gcc>gc		zinc finger protein 395				554,80,3604		203,0,148,2,76,1690						-6.6	0.0			63	1049,5,7094		390,0,269,0,5,3410	no	codingComplex	ZNF395	NM_018660.2		593,0,417,2,81,5100	A1A1,A1A2,A1R,A2A2,A2R,RR		12.9357,14.9599,13.6283				1603,85,10698				SO:0001651	inframe_deletion	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28209226_28209228delGCA	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1017_1019delTGC	8.37:g.28209235_28209237delGCA	ENSP00000340494:p.Ala341del					ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del	p.AA339del	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	7	1148_1150	-		Ovarian(32;2.06e-05)	339					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	In_Frame_Del	DEL	ENST00000344423.5	37	c.1017_1019delTGC	CCDS6067.1																																																																																				0.606	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			7	120						7	120	---	---	---	---
CPEB3	22849	broad.mit.edu	37	10	93870871	93870872	+	Frame_Shift_Del	DEL	AG	AG	-	rs369944745		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr10:93870871_93870872delAG	ENST00000265997.4	-	7	1705_1706	c.1533_1534delCT	c.(1531-1536)ctctacfs	p.Y512fs	CPEB3_ENST00000412050.4_Frame_Shift_Del_p.Y498fs	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	512	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				ACACACAGGTAGAGTTTCCCAT	0.465																																						ENST00000412050.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(1489-1494)ctacfs		cytoplasmic polyadenylation element binding protein 3																																				SO:0001589	frameshift_variant	22849						nucleotide binding|RNA binding	g.chr10:93870871_93870872delAG	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1533_1534delCT	10.37:g.93870873_93870874delAG	ENSP00000265997:p.Tyr512fs					CPEB3_ENST00000265997.4_Frame_Shift_Del_p.LY511fs	p.LY497fs	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			7	1579_1580	-		Colorectal(252;0.0869)	511			RRM 1.		Q5T389|Q9NQJ7|Q9Y2E9	Frame_Shift_Del	DEL	ENST00000265997.4	37	c.1491_1492delCT	CCDS31246.1																																																																																				0.465	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		17	132						17	132	---	---	---	---
CAPN1	823	broad.mit.edu	37	11	64981480	64981481	+	IGR	INS	-	-	C			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr11:64981480_64981481insC	ENST00000527323.1	+	0	3086				SLC22A20_ENST00000525437.1_RNA			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		ACGGCCGCTGTCCCCCCCCACC	0.693																																						ENST00000525437.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8																																												SO:0001628	intergenic_variant	0				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:64981480_64981481insC	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614		11.37:g.64981488_64981488dupC										A6NK97	S22AK_HUMAN			0	170_171	+								Q2TTR0|Q6DHV4	RNA	INS	ENST00000527323.1	37		CCDS44644.1																																																																																				0.693	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			2	4						2	4	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57589082	57589084	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr12:57589082_57589084delCTC	ENST00000243077.3	+	52	8803_8805	c.8337_8339delCTC	c.(8335-8340)ttctcc>ttc	p.S2780del	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2780	LDL-receptor class A 17. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCCTCCTTCTCCTGCCCTGGC	0.611																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(8335-8340)ttc>tt		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001651	inframe_deletion	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57589082_57589084delCTC	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8337_8339delCTC	12.37:g.57589082_57589084delCTC	ENSP00000243077:p.Ser2780del						p.FS2779del	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	52	8803_8805	+			2779			LDL-receptor class A 17.		Q2PP12|Q86SW0|Q8IVG8	In_Frame_Del	DEL	ENST00000243077.3	37	c.8337_8339delCTC	CCDS8932.1																																																																																				0.611	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		58	132						58	132	---	---	---	---
PPL	5493	broad.mit.edu	37	16	4935555	4935557	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr16:4935555_4935557delAGG	ENST00000345988.2	-	22	3188_3190	c.3099_3101delCCT	c.(3097-3102)ctcctg>ctg	p.1033_1034LL>L	PPL_ENST00000590782.2_In_Frame_Del_p.1031_1032LL>L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1033					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACGCTGCTGCAGGAGGAGCACCT	0.66																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(3097-3102)ctg>ct		periplakin																																				SO:0001651	inframe_deletion	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4935555_4935557delAGG	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3099_3101delCCT	16.37:g.4935558_4935560delAGG	ENSP00000340510:p.Leu1034del					PPL_ENST00000590782.2_In_Frame_Del_p.LL1031del	p.LL1033del	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	3188_3190	-			1033					O60314|O60454|Q14C98	In_Frame_Del	DEL	ENST00000345988.2	37	c.3099_3101delCCT	CCDS10526.1																																																																																				0.660	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		24	59						24	59	---	---	---	---
RBBP6	5930	broad.mit.edu	37	16	24582708	24582709	+	Frame_Shift_Del	DEL	AA	AA	-	rs140198744	byFrequency	TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr16:24582708_24582709delAA	ENST00000319715.4	+	18	4753_4754	c.4321_4322delAA	c.(4321-4323)aaafs	p.K1441fs	RBBP6_ENST00000381039.3_Frame_Shift_Del_p.K601fs|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.K1407fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1441	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGGAAATTTTAAAAGTCTGTCT	0.391																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(4321-4323)afs		retinoblastoma binding protein 6																																				SO:0001589	frameshift_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24582708_24582709delAA		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4321_4322delAA	16.37:g.24582710_24582711delAA	ENSP00000317872:p.Lys1441fs					RBBP6_ENST00000381039.3_Frame_Shift_Del_p.K601fs|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.K1407fs	p.K1441fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	18	4753_4754	+			1441			Interaction with p53 (By similarity).		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Del	DEL	ENST00000319715.4	37	c.4321_4322delAA	CCDS10621.1																																																																																				0.391	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		25	81						25	81	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42793215	42793218	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr19:42793215_42793218delCAGT	ENST00000575354.2	+	7	1147_1150	c.1107_1110delCAGT	c.(1105-1110)gacagtfs	p.DS369fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.DS1278fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAGAAGTAGACAGTCAGGCGCTAC	0.667			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3832-3837)gafs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42793215_42793218delCAGT	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1107_1110delCAGT	19.37:g.42793215_42793218delCAGT	ENSP00000458663:p.Asp369fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.DS369fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs	p.DS1278fs			Q96RK0	CIC_HUMAN			8	3902_3905	+		Prostate(69;0.00682)	369			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.3834_3837delCAGT	CCDS12601.1																																																																																				0.667	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			12	74						12	74	---	---	---	---
ZNF135	7694	broad.mit.edu	37	19	58578565	58578568	+	Frame_Shift_Del	DEL	GAGA	GAGA	-	rs200166263		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr19:58578565_58578568delGAGA	ENST00000313434.5	+	5	814_817	c.713_716delGAGA	c.(712-717)ggagagfs	p.GE238fs	RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Frame_Shift_Del_p.GE238fs|ZNF135_ENST00000506786.1_Frame_Shift_Del_p.GE196fs|ZNF135_ENST00000401053.4_Frame_Shift_Del_p.GE262fs|ZNF135_ENST00000359978.6_Frame_Shift_Del_p.GE250fs|ZNF135_ENST00000511556.1_Frame_Shift_Del_p.GE250fs	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	238					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACGCACACAGGAGAGAGACCTTAC	0.475																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(586-591)ggfs		zinc finger protein 135																																				SO:0001589	frameshift_variant	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578565_58578568delGAGA	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.713_716delGAGA	19.37:g.58578569_58578572delGAGA	ENSP00000321406:p.Gly238fs					ZNF135_ENST00000359978.6_Frame_Shift_Del_p.GE250fs|ZNF135_ENST00000313434.5_Frame_Shift_Del_p.GE238fs|ZNF135_ENST00000439855.2_Frame_Shift_Del_p.GE238fs|ZNF135_ENST00000511556.1_Frame_Shift_Del_p.GE250fs|ZNF135_ENST00000401053.4_Frame_Shift_Del_p.GE262fs	p.GE196fs			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1141_1144	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	250					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Frame_Shift_Del	DEL	ENST00000313434.5	37	c.587_590delGAGA																																																																																					0.475	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		17	86						17	86	---	---	---	---
