#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
TACR1	6869	broad.mit.edu	37	2	75347894	75347894	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:75347894C>G	ENST00000305249.5	-	2	1155	c.390G>C	c.(388-390)agG>agC	p.R130S	TACR1_ENST00000497764.1_5'Flank|TACR1_ENST00000409848.3_Splice_Site_p.R130S	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	130					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TGGCCATGTACCTGGAACAGA	0.483																																					Pancreas(64;62 1268 3653 14826 43765)	ENST00000305249.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24						c.e2-1		tachykinin receptor 1	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						52.0	54.0	54.0					2																	75347894		2203	4300	6503	SO:0001630	splice_region_variant	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75347894C>G	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.390-1G>C	2.37:g.75347894C>G						TACR1_ENST00000409848.3_Splice_Site_p.R130_splice	p.R130_splice	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN			2	1155	-			130					A8K150	Splice_Site	SNP	ENST00000305249.5	37	c.389_splice	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880585	0.72294	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	D;D	0.97161	-4.27;-4.27	5.52	1.7	0.24286	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98845	0.9610	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97633	1.0143	10	0.87932	D	0	.	8.617	0.33838	0.0:0.6767:0.0:0.3233	.	130	P25103	NK1R_HUMAN	S	130	ENSP00000303522:R130S;ENSP00000386448:R130S	ENSP00000303522:R130S	R	-	3	2	TACR1	75201402	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	3.492000	0.53259	0.099000	0.17552	0.655000	0.94253	AGG		0.483	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058	Missense_Mutation	22	38	0	0	0	0.608945	0	22	38				
ZNF576	79177	broad.mit.edu	37	19	44103389	44103389	+	Silent	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr19:44103389G>A	ENST00000336564.4	+	3	646	c.492G>A	c.(490-492)cgG>cgA	p.R164R	ZNF576_ENST00000391965.2_Silent_p.R164R|ZNF576_ENST00000525771.1_Silent_p.R164R|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000533118.1_Silent_p.R164R|ZNF576_ENST00000528387.1_Silent_p.R164R|ZNF576_ENST00000529930.1_Silent_p.R164R|SRRM5_ENST00000526798.1_Intron	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	164					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				ACTACATTCGGCATGCCCGGG	0.612																																						ENST00000336564.4																			0				endometrium(1)|prostate(1)	2						c.(490-492)cgG>cgA		zinc finger protein 576							34.0	30.0	32.0					19																	44103389		2203	4300	6503	SO:0001819	synonymous_variant	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44103389G>A	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"""Zinc fingers, C2H2-type"""	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.492G>A	19.37:g.44103389G>A						ZNF576_ENST00000391965.2_Silent_p.R164R|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000533118.1_Silent_p.R164R|ZNF576_ENST00000525771.1_Silent_p.R164R|ZNF576_ENST00000529930.1_Silent_p.R164R|ZNF576_ENST00000528387.1_Silent_p.R164R|SRRM5_ENST00000526798.1_Intron	p.R164R	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			3	646	+		Prostate(69;0.0199)	164					Q9BU03	Silent	SNP	ENST00000336564.4	37	c.492G>A	CCDS12625.1																																																																																				0.612	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327		3	37	0	0	0	0.115264	0	3	37				
LRGUK	136332	broad.mit.edu	37	7	133827909	133827909	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr7:133827909C>A	ENST00000285928.2	+	4	651	c.582C>A	c.(580-582)aaC>aaA	p.N194K		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	194						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CACCCAAAAACCTCAAGGTAG	0.338																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(580-582)aaC>aaA		leucine-rich repeats and guanylate kinase domain containing							130.0	123.0	125.0					7																	133827909		2203	4299	6502	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133827909C>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.582C>A	7.37:g.133827909C>A	ENSP00000285928:p.Asn194Lys						p.N194K	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			4	651	+			194					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.582C>A	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	C	9.435	1.086617	0.20390	.	.	ENSG00000155530	ENST00000285928	T	0.26518	1.73	4.65	2.22	0.28083	.	0.146245	0.43260	N	0.000587	T	0.18800	0.0451	L	0.41961	1.31	0.36354	D	0.860282	B	0.23937	0.094	B	0.23716	0.048	T	0.10064	-1.0646	10	0.36615	T	0.2	-9.2337	6.0723	0.19895	0.0:0.0916:0.1636:0.7448	.	194	Q96M69	LRGUK_HUMAN	K	194	ENSP00000285928:N194K	ENSP00000285928:N194K	N	+	3	2	LRGUK	133478449	0.993000	0.37304	0.999000	0.59377	0.565000	0.35776	0.084000	0.14891	0.158000	0.19367	-0.471000	0.05019	AAC		0.338	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		5	103	1	0	0.000602214	0.184627	0.000663309	5	103				
CHERP	10523	broad.mit.edu	37	19	16643484	16643484	+	Missense_Mutation	SNP	C	C	T	rs368216200		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr19:16643484C>T	ENST00000198939.6	-	5	635	c.599G>A	c.(598-600)cGc>cAc	p.R200H	CHERP_ENST00000546361.2_Missense_Mutation_p.R200H|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						AGCCGTGATGCGGTTCCGGAG	0.632																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(598-600)cGc>cAc		calcium homeostasis endoplasmic reticulum protein		C	HIS/ARG	0,4352		0,0,2176	59.0	70.0	67.0		599	4.9	1.0	19		67	1,8557		0,1,4278	no	missense	CHERP	NM_006387.5	29	0,1,6454	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	200/917	16643484	1,12909	2176	4279	6455	SO:0001583	missense	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16643484C>T	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.599G>A	19.37:g.16643484C>T	ENSP00000198939:p.Arg200His					CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R200H	p.R200H	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			5	750	-			200			CID.			Missense_Mutation	SNP	ENST00000198939.6	37	c.599G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.428493	0.96131	0.0	1.17E-4	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.44083	0.93;0.93	4.94	4.94	0.65067	ENTH/VHS (1);RNA polymerase II, large subunit, CTD (2);	.	.	.	.	T	0.60392	0.2265	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.62779	-0.6782	9	0.59425	D	0.04	-22.2596	17.136	0.86739	0.0:1.0:0.0:0.0	.	200	Q8IWX8	CHERP_HUMAN	H	200	ENSP00000439856:R200H;ENSP00000198939:R200H	ENSP00000198939:R200H	R	-	2	0	CHERP	16504484	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.465000	0.80898	2.286000	0.76751	0.491000	0.48974	CGC		0.632	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		4	69	0	0	0	0.150653	0	4	69				
ETV3	2117	broad.mit.edu	37	1	157105282	157105282	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:157105282T>A	ENST00000368192.4	-	3	329	c.265A>T	c.(265-267)Aag>Tag	p.K89*	ETV3_ENST00000326786.4_Nonsense_Mutation_p.K89*|ETV3_ENST00000460850.1_5'UTR	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	89					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				CGGCTCAGCTTGTCATAATTC	0.498																																						ENST00000368192.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9						c.(265-267)Aag>Tag		ets variant 3							61.0	62.0	61.0					1																	157105282		2203	4300	6503	SO:0001587	stop_gained	2117						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157105282T>A	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.265A>T	1.37:g.157105282T>A	ENSP00000357175:p.Lys89*					ETV3_ENST00000326786.4_Nonsense_Mutation_p.K89*|ETV3_ENST00000460850.1_5'UTR	p.K89*	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN			3	329	-	Hepatocellular(266;0.158)	Prostate(1639;0.174)	89					B4E3M7|Q8TAC8|Q9BX30	Nonsense_Mutation	SNP	ENST00000368192.4	37	c.265A>T	CCDS44250.1	.	.	.	.	.	.	.	.	.	.	T	36	5.744922	0.96882	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5288	0.67909	0.0:0.0:0.0:1.0	.	.	.	.	X	89	.	ENSP00000327316:K89X	K	-	1	0	ETV3	155371906	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.988000	0.88194	2.075000	0.62263	0.533000	0.62120	AAG		0.498	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240		22	39	0	0	0	0.639603	0	22	39				
ZNF230	7773	broad.mit.edu	37	19	44515531	44515531	+	Nonsense_Mutation	SNP	C	C	A	rs368656901		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr19:44515531C>A	ENST00000429154.2	+	5	1568	c.1340C>A	c.(1339-1341)tCa>tAa	p.S447*		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GGAGAAAACTCATCCAAATGT	0.388																																					GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(1339-1341)tCa>tAa		zinc finger protein 230							51.0	56.0	54.0					19																	44515531		2201	4299	6500	SO:0001587	stop_gained	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515531C>A	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.1340C>A	19.37:g.44515531C>A	ENSP00000409318:p.Ser447*						p.S447*	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN			5	1568	+		Prostate(69;0.0352)	447					O15322|Q504X7|Q86W84|Q9P1U6	Nonsense_Mutation	SNP	ENST00000429154.2	37	c.1340C>A	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	C	37	6.083038	0.97267	.	.	ENSG00000159882	ENST00000429154	.	.	.	2.55	2.55	0.30701	.	.	.	.	.	.	.	.	.	.	.	0.20703	N	0.999863	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	12.1799	0.54206	0.0:1.0:0.0:0.0	.	.	.	.	X	447	.	ENSP00000409318:S447X	S	+	2	0	ZNF230	49207371	0.000000	0.05858	0.002000	0.10522	0.527000	0.34593	0.846000	0.27682	1.399000	0.46721	0.205000	0.17691	TCA		0.388	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			4	75	1	0	0.150653	0.150653	0.161263	4	75				
SIPA1	6494	broad.mit.edu	37	11	65410052	65410052	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:65410052G>A	ENST00000394224.3	+	4	1222	c.926G>A	c.(925-927)cGc>cAc	p.R309H	SIPA1_ENST00000394227.3_Missense_Mutation_p.R309H|SIPA1_ENST00000534313.1_Missense_Mutation_p.R309H|SIPA1_ENST00000527525.1_Missense_Mutation_p.R309H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	309					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AGCTGCCTGCGCCTGGGCTCA	0.697																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(925-927)cGc>cAc		signal-induced proliferation-associated 1							9.0	11.0	11.0					11																	65410052		2188	4266	6454	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65410052G>A	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.926G>A	11.37:g.65410052G>A	ENSP00000377771:p.Arg309His					SIPA1_ENST00000527525.1_Missense_Mutation_p.R309H|SIPA1_ENST00000534313.1_Missense_Mutation_p.R309H|SIPA1_ENST00000394227.3_Missense_Mutation_p.R309H	p.R309H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			4	1222	+			309					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.926G>A	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274259	0.95459	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33	4.16	4.16	0.48862	.	0.230982	0.26286	U	0.025252	D	0.97244	0.9099	M	0.92077	3.27	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.97999	1.0359	10	0.87932	D	0	-22.21	14.3441	0.66649	0.0:0.0:1.0:0.0	.	309;309	F6RY50;Q96FS4	.;SIPA1_HUMAN	H	309	ENSP00000436269:R309H;ENSP00000433686:R309H;ENSP00000377771:R309H;ENSP00000377774:R309H	ENSP00000377771:R309H	R	+	2	0	SIPA1	65166628	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.441000	0.97557	2.323000	0.78572	0.455000	0.32223	CGC		0.697	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		4	17	0	0	0	0.150653	0	4	17				
PLXNB3	5365	broad.mit.edu	37	X	153039436	153039436	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chrX:153039436C>T	ENST00000361971.5	+	20	3516	c.3402C>T	c.(3400-3402)gcC>gcT	p.A1134A	PLXNB3_ENST00000538776.1_Silent_p.A787A|PLXNB3_ENST00000538966.1_Silent_p.A1157A|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538282.1_Silent_p.A744A	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1134	IPT/TIG 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGACTTCGCCAGTGCCAGTG	0.692																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(3469-3471)gcC>gcT		plexin B3							42.0	43.0	42.0					X																	153039436		2200	4295	6495	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153039436C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3402C>T	X.37:g.153039436C>T						PLXNB3_ENST00000538282.1_Silent_p.A744A|PLXNB3_ENST00000361971.5_Silent_p.A1134A|PLXNB3_ENST00000538776.1_Silent_p.A787A	p.A1157A	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			21	3742	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1134					B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.3471C>T	CCDS14729.1																																																																																				0.692	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			28	24	0	0	0	0.729181	0	28	24				
COL7A1	1294	broad.mit.edu	37	3	48608571	48608571	+	Missense_Mutation	SNP	G	G	A	rs150193295		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr3:48608571G>A	ENST00000328333.8	-	93	7234	c.7127C>T	c.(7126-7128)cCg>cTg	p.P2376L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2344L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2376	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGGAGCCCGGGACCCCGAC	0.642																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(7126-7128)cCg>cTg		collagen, type VII, alpha 1		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	36.0	45.0	42.0		7127	0.4	0.5	3	dbSNP_134	42	0,8600		0,0,4300	no	missense	COL7A1	NM_000094.3	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	2376/2945	48608571	1,13005	2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48608571G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7127C>T	3.37:g.48608571G>A	ENSP00000332371:p.Pro2376Leu					COL7A1_ENST00000454817.1_Missense_Mutation_p.P2344L	p.P2376L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	93	7234	-			2376			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.7127C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	1.588	-0.529781	0.04112	2.27E-4	0.0	ENSG00000114270	ENST00000328333;ENST00000454817;ENST00000422991	D;D;D	0.96685	-3.87;-3.87;-4.09	4.39	0.374	0.16183	.	0.764980	0.11044	N	0.605811	D	0.93074	0.7795	M	0.70108	2.13	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.83644	0.0152	10	0.38643	T	0.18	.	0.8275	0.01124	0.3227:0.0985:0.1839:0.3948	.	2376	Q02388	CO7A1_HUMAN	L	2376;2344;41	ENSP00000332371:P2376L;ENSP00000412569:P2344L;ENSP00000391608:P41L	ENSP00000332371:P2376L	P	-	2	0	COL7A1	48583575	0.905000	0.30787	0.476000	0.27291	0.004000	0.04260	0.040000	0.13905	0.303000	0.22785	-1.475000	0.01000	CCG		0.642	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		4	95	0	0	0	0.150653	0	4	95				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	65	0	0	0	0.150653	0	4	65				
LACC1	144811	broad.mit.edu	37	13	44464253	44464253	+	Silent	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr13:44464253T>C	ENST00000441843.1	+	6	1622	c.1137T>C	c.(1135-1137)atT>atC	p.I379I	LACC1_ENST00000325686.6_Silent_p.I379I	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	379																	TCCTAAGGATTCTTCTAGAAC	0.373																																						ENST00000441843.1																			0											c.(1135-1137)atT>atC		laccase (multicopper oxidoreductase) domain containing 1							75.0	72.0	73.0					13																	44464253		2203	4300	6503	SO:0001819	synonymous_variant	144811							g.chr13:44464253T>C	AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"""chromosome 13 open reading frame 31"""	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.1137T>C	13.37:g.44464253T>C						LACC1_ENST00000325686.6_Silent_p.I379I	p.I379I	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN			6	1622	+			379					A2A3Z6|Q8N8X5	Silent	SNP	ENST00000441843.1	37	c.1137T>C	CCDS9391.1																																																																																				0.373	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218		6	65	0	0	0	0.248553	0	6	65				
GPBP1L1	60313	broad.mit.edu	37	1	46105995	46105995	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:46105995A>T	ENST00000290795.3	-	7	1852	c.631T>A	c.(631-633)Tct>Act	p.S211T	GPBP1L1_ENST00000355105.3_Missense_Mutation_p.S211T			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	211					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AATGCAGCAGAGAAGGCAGCA	0.473																																						ENST00000355105.3																		GPBP1L1/MAST2_ENST00000361297(2)	0				breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21						c.(631-633)Tct>Act		GC-rich promoter binding protein 1-like 1							277.0	258.0	264.0					1																	46105995		2203	4300	6503	SO:0001583	missense	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46105995A>T		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.631T>A	1.37:g.46105995A>T	ENSP00000290795:p.Ser211Thr					GPBP1L1_ENST00000290795.3_Missense_Mutation_p.S211T	p.S211T	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN			8	1991	-	Acute lymphoblastic leukemia(166;0.155)		211					D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	37	c.631T>A	CCDS528.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.007845	0.93287	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.26957	1.7;1.7	5.85	5.85	0.93711	.	0.054402	0.85682	D	0.000000	T	0.47210	0.1433	M	0.64997	1.995	0.52501	D	0.999953	D	0.61697	0.99	D	0.72982	0.979	T	0.27157	-1.0082	10	0.22109	T	0.4	-30.7729	16.2421	0.82418	1.0:0.0:0.0:0.0	.	211	Q9HC44	GPBL1_HUMAN	T	211	ENSP00000290795:S211T;ENSP00000347224:S211T	ENSP00000290795:S211T	S	-	1	0	GPBP1L1	45878582	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.861000	0.69553	2.234000	0.73211	0.533000	0.62120	TCT		0.473	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		24	238	0	0	0	0.681144	0	24	238				
SLC4A7	9497	broad.mit.edu	37	3	27459989	27459989	+	Missense_Mutation	SNP	A	A	C	rs528917300		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr3:27459989A>C	ENST00000295736.5	-	11	1690	c.1620T>G	c.(1618-1620)agT>agG	p.S540R	SLC4A7_ENST00000446700.1_Missense_Mutation_p.S532R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S549R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S421R|SLC4A7_ENST00000388777.4_Missense_Mutation_p.S90R|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S532R|RN7SL859P_ENST00000578725.1_RNA|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S416R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S421R|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S425R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	540					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	GAGAAGGGACACTTTTTGGTG	0.353																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(1618-1620)agT>agG		solute carrier family 4, sodium bicarbonate cotransporter, member 7							113.0	109.0	110.0					3																	27459989		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27459989A>C	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1620T>G	3.37:g.27459989A>C	ENSP00000295736:p.Ser540Arg					SLC4A7_ENST00000446700.1_Missense_Mutation_p.S532R|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S416R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S549R|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S532R|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S425R|SLC4A7_ENST00000388777.4_Missense_Mutation_p.S90R|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S421R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S421R	p.S540R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			11	1690	-			540					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.1620T>G	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.016330	0.54468	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.73	1.82	0.25136	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.039695	0.85682	D	0.000000	T	0.80660	0.4665	M	0.73962	2.25	0.37184	D	0.903626	P;B;P;B;B;B;B;P;B	0.34934	0.476;0.241;0.476;0.399;0.078;0.142;0.354;0.476;0.036	B;B;B;B;B;B;B;B;B	0.42030	0.313;0.206;0.231;0.128;0.06;0.139;0.373;0.313;0.097	T	0.78679	-0.2110	10	0.35671	T	0.21	.	10.6911	0.45870	0.7474:0.0:0.2526:0.0	.	536;421;532;536;549;90;416;540;421	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	R	91;540;416;549;536;421;532;421;536;425;90;532;436	ENSP00000411031:S91R;ENSP00000295736:S540R;ENSP00000416368:S416R;ENSP00000390394:S549R;ENSP00000414797:S536R;ENSP00000394252:S421R;ENSP00000406605:S532R;ENSP00000407382:S421R;ENSP00000406804:S536R;ENSP00000395336:S425R;ENSP00000373429:S90R;ENSP00000401949:S532R;ENSP00000388703:S436R	ENSP00000295736:S540R	S	-	3	2	SLC4A7	27434993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.496000	0.35638	0.394000	0.25230	0.533000	0.62120	AGT		0.353	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		8	32	0	0	0	0.361761	0	8	32				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006961	+	RNA	DNP	CC	CC	AT	rs199838243|rs200228350	byFrequency	TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr22:23006960_23006961CC>AT	ENST00000385099.1	+	0	63_64																											GGGCTCTGCTCCTCCTCACCCT	0.629																																						ENST00000385099.1																			0																																																			0							g.chr22:23006960C>A|g.chr22:23006961C>T																												Exception_encountered	22.37:g.23006960_23006961delinsAT														0	63|64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.629	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	13	1|0	0	0.00024832|0	0.150653	0.000277534|0	3	13				
CCDC108	255101	broad.mit.edu	37	2	219900337	219900337	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:219900337C>G	ENST00000341552.5	-	5	490	c.407G>C	c.(406-408)aGa>aCa	p.R136T	CCDC108_ENST00000441968.1_Missense_Mutation_p.R136T|CCDC108_ENST00000409865.3_Missense_Mutation_p.R125T|CCDC108_ENST00000410037.1_Missense_Mutation_p.R71T|CCDC108_ENST00000295729.2_Missense_Mutation_p.R71T|CCDC108_ENST00000453220.1_Missense_Mutation_p.R136T|CCDC108_ENST00000324264.6_Missense_Mutation_p.R71T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	136						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGTTCACTCTCTCCTGCTT	0.547																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(406-408)aGa>aCa		coiled-coil domain containing 108							138.0	121.0	127.0					2																	219900337		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219900337C>G	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.407G>C	2.37:g.219900337C>G	ENSP00000340776:p.Arg136Thr					CCDC108_ENST00000453220.1_Missense_Mutation_p.R136T|CCDC108_ENST00000441968.1_Missense_Mutation_p.R136T|CCDC108_ENST00000410037.1_Missense_Mutation_p.R71T|CCDC108_ENST00000409865.3_Missense_Mutation_p.R125T|CCDC108_ENST00000324264.6_Missense_Mutation_p.R71T|CCDC108_ENST00000295729.2_Missense_Mutation_p.R71T	p.R136T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	490	-		Renal(207;0.0915)	136					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.407G>C	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606594	0.46527	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164;ENST00000457968;ENST00000436631;ENST00000295729;ENST00000324264;ENST00000458526	T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.39	-4.38	0.03622	.	0.954027	0.08649	N	0.914332	T	0.11367	0.0277	N	0.08118	0	0.09310	N	1	B;B;P	0.37276	0.091;0.091;0.589	B;B;B	0.32677	0.018;0.018;0.15	T	0.17961	-1.0352	10	0.62326	D	0.03	-0.0804	3.6771	0.08297	0.1037:0.2868:0.1037:0.5057	.	125;71;136	E9PG25;E9PCR1;Q6ZU64	.;.;CC108_HUMAN	T	136;136;136;125;71;70;125;71;71;71;71	ENSP00000340776:R136T;ENSP00000413377:R136T;ENSP00000409117:R136T;ENSP00000386945:R125T;ENSP00000386258:R71T;ENSP00000393483:R125T;ENSP00000396836:R71T;ENSP00000295729:R71T;ENSP00000313807:R71T;ENSP00000413746:R71T	ENSP00000295729:R71T	R	-	2	0	CCDC108	219608581	0.024000	0.19004	0.015000	0.15790	0.225000	0.24961	-0.415000	0.07106	-0.680000	0.05211	-1.083000	0.02208	AGA		0.547	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		42	106	0	0	0	0.834066	0	42	106				
FRG1	2483	broad.mit.edu	37	4	190862186	190862186	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:190862186A>T	ENST00000226798.4	+	1	244	c.22A>T	c.(22-24)Aag>Tag	p.K8*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	8	Lys-rich.				mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CTCCTACGTGAAGTCTACCAA	0.637											OREG0016457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(22-24)Aag>Tag		FSHD region gene 1							38.0	41.0	40.0					4																	190862186		2203	4300	6503	SO:0001587	stop_gained	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190862186A>T	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.22A>T	4.37:g.190862186A>T	ENSP00000226798:p.Lys8*		OREG0016457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2041	FRG1_ENST00000514482.1_3'UTR	p.K8*	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	1	244	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	8			Lys-rich.		A8K775	Nonsense_Mutation	SNP	ENST00000226798.4	37	c.22A>T	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	37	6.523272	0.97633	.	.	ENSG00000109536	ENST00000226798	.	.	.	4.01	4.01	0.46588	.	0.048664	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.2842	9.5632	0.39383	1.0:0.0:0.0:0.0	.	.	.	.	X	8	.	ENSP00000226798:K8X	K	+	1	0	FRG1	191099180	1.000000	0.71417	0.993000	0.49108	0.232000	0.25224	4.718000	0.61930	1.815000	0.52974	0.449000	0.29647	AAG		0.637	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		3	24	0	0	0	0.150653	0	3	24				
MYH6	4624	broad.mit.edu	37	14	23866021	23866021	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr14:23866021C>T	ENST00000356287.3	-	18	2203	c.2174G>A	c.(2173-2175)cGc>cAc	p.R725H	MYH6_ENST00000405093.3_Missense_Mutation_p.R725H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	725	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTTCAGGATGCGATACCTGAG	0.547																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(2173-2175)cGc>cAc		myosin, heavy chain 6, cardiac muscle, alpha							100.0	79.0	86.0					14																	23866021		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23866021C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2174G>A	14.37:g.23866021C>T	ENSP00000348634:p.Arg725His					MYH6_ENST00000356287.3_Missense_Mutation_p.R725H	p.R725H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	19	2244	-	all_cancers(95;2.54e-05)		725			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2174G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	19.63	3.863617	0.71949	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.87966	-2.32;-2.32	4.46	4.46	0.54185	Myosin head, motor domain (2);	.	.	.	.	D	0.92808	0.7713	M	0.81497	2.545	0.51012	D	0.999908	D	0.89917	1.0	D	0.77004	0.989	D	0.93259	0.6641	9	0.59425	D	0.04	.	13.0136	0.58745	0.0:0.9183:0.0:0.0817	.	725	P13533	MYH6_HUMAN	H	725	ENSP00000386041:R725H;ENSP00000348634:R725H	ENSP00000348634:R725H	R	-	2	0	MYH6	22935861	0.295000	0.24389	1.000000	0.80357	0.896000	0.52359	1.946000	0.40283	2.208000	0.71279	0.650000	0.86243	CGC		0.547	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			5	70	0	0	0	0.184627	0	5	70				
EZH1	2145	broad.mit.edu	37	17	40865284	40865284	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr17:40865284T>C	ENST00000428826.2	-	11	1268	c.1147A>G	c.(1147-1149)Act>Gct	p.T383A	EZH1_ENST00000435174.1_Missense_Mutation_p.T244A|EZH1_ENST00000415827.2_Missense_Mutation_p.T374A|EZH1_ENST00000585893.1_Missense_Mutation_p.T343A|EZH1_ENST00000590078.1_Missense_Mutation_p.T313A|EZH1_ENST00000592743.1_Missense_Mutation_p.T383A			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	383					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CCTTCTTTAGTCTCAGCCACA	0.537																																						ENST00000428826.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(1147-1149)Act>Gct		enhancer of zeste homolog 1 (Drosophila)							107.0	93.0	98.0					17																	40865284		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40865284T>C		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1147A>G	17.37:g.40865284T>C	ENSP00000404658:p.Thr383Ala					EZH1_ENST00000590078.1_Missense_Mutation_p.T313A|EZH1_ENST00000585893.1_Missense_Mutation_p.T343A|EZH1_ENST00000592743.1_Missense_Mutation_p.T383A|EZH1_ENST00000435174.1_Missense_Mutation_p.T244A|EZH1_ENST00000415827.2_Missense_Mutation_p.T374A	p.T383A			Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	11	1268	-		Breast(137;0.00104)	383					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.1147A>G	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.169963	0.38315	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.77358	-1.09;-1.09	5.26	5.26	0.73747	.	0.219882	0.49916	D	0.000139	T	0.64940	0.2644	L	0.40543	1.245	0.44079	D	0.996835	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0	B;B;B;B;B	0.08055	0.003;0.001;0.002;0.001;0.001	T	0.57447	-0.7810	10	0.07175	T	0.84	.	10.5239	0.44936	0.0:0.0751:0.0:0.9248	.	244;343;389;313;383	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	A	386;383;343;244	ENSP00000404658:T383A;ENSP00000404071:T244A	ENSP00000264646:T386A	T	-	1	0	EZH1	38118810	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.907000	0.28531	2.207000	0.71202	0.454000	0.30748	ACT		0.537	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		40	68	0	0	0	0.812448	0	40	68				
HFE2	148738	broad.mit.edu	37	1	145415767	145415767	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:145415767A>C	ENST00000336751.5	+	3	824	c.586A>C	c.(586-588)Aat>Cat	p.N196H	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.N83H|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	196					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTACTGGATAATGACTTCCT	0.587																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(586-588)Aat>Cat		hemochromatosis type 2 (juvenile)							100.0	103.0	102.0					1																	145415767		2203	4300	6503	SO:0001583	missense	148738				axon guidance	anchored to membrane		g.chr1:145415767A>C	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.586A>C	1.37:g.145415767A>C	ENSP00000337014:p.Asn196His					HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.N83H|HFE2_ENST00000497365.1_Intron	p.N196H	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			3	824	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		196					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	c.586A>C	CCDS910.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419105	0.83559	.	.	ENSG00000168509	ENST00000357836;ENST00000336751	D;D	0.98958	-5.27;-5.27	4.32	4.32	0.51571	Repulsive guidance molecule, N-terminal (1);	0.057170	0.64402	D	0.000003	D	0.98817	0.9601	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99838	1.1059	10	0.87932	D	0	-20.9345	11.5018	0.50441	1.0:0.0:0.0:0.0	.	196	Q6ZVN8	RGMC_HUMAN	H	83;196	ENSP00000350495:N83H;ENSP00000337014:N196H	ENSP00000337014:N196H	N	+	1	0	HFE2	144127124	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	8.953000	0.93041	1.816000	0.52996	0.456000	0.33151	AAT		0.587	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		45	125	0	0	0	0.853193	0	45	125				
HSF1	3297	broad.mit.edu	37	8	145535738	145535738	+	Missense_Mutation	SNP	G	G	A	rs369608182		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr8:145535738G>A	ENST00000528838.1	+	9	1110	c.950G>A	c.(949-951)cGc>cAc	p.R317H	GS1-393G12.12_ENST00000525023.1_RNA|HSF1_ENST00000400780.4_Missense_Mutation_p.R252H	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	317					cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			AGTCCCGGGCGCCCATCTTCC	0.697																																						ENST00000528838.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(949-951)cGc>cAc		heat shock transcription factor 1			HIS/ARG	0,4402		0,0,2201	24.0	24.0	24.0		950	-5.9	0.0	8		24	1,8595		0,1,4297	no	missense	HSF1	NM_005526.2	29	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	317/530	145535738	1,12997	2201	4298	6499	SO:0001583	missense	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145535738G>A	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.950G>A	8.37:g.145535738G>A	ENSP00000431512:p.Arg317His					HSF1_ENST00000400780.4_Missense_Mutation_p.R252H	p.R317H	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		9	1110	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		317					A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	37	c.950G>A	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	g	3.333	-0.136325	0.06711	0.0	1.16E-4	ENSG00000185122	ENST00000528838;ENST00000400780	.	.	.	5.54	-5.87	0.02297	Vertebrate heat shock transcription factor (1);	0.889821	0.09852	N	0.747406	T	0.18045	0.0433	N	0.04043	-0.29	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.21109	-1.0255	9	0.37606	T	0.19	-12.7286	10.7456	0.46179	0.3011:0.1224:0.5765:0.0	.	317	Q00613	HSF1_HUMAN	H	317;252	.	ENSP00000383590:R252H	R	+	2	0	HSF1	145506546	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-0.094000	0.11094	-1.298000	0.02348	-1.086000	0.02197	CGC		0.697	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		14	35	0	0	0	0.457914	0	14	35				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	63	0	0	0	0.150653	0	4	63				
SCUBE2	57758	broad.mit.edu	37	11	9069059	9069059	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:9069059T>C	ENST00000309263.3	-	15	1831	c.1759A>G	c.(1759-1761)Aaa>Gaa	p.K587E	SCUBE2_ENST00000450649.2_Missense_Mutation_p.K461E|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.K616E|SCUBE2_ENST00000457346.2_Missense_Mutation_p.K616E			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	587						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CGGATGGCTTTACGGAGCCGC	0.567																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1846-1848)Aaa>Gaa		signal peptide, CUB domain, EGF-like 2							83.0	69.0	74.0					11																	9069059		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9069059T>C	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1759A>G	11.37:g.9069059T>C	ENSP00000310658:p.Lys587Glu					SCUBE2_ENST00000309263.3_Missense_Mutation_p.K587E|SCUBE2_ENST00000520467.1_Missense_Mutation_p.K616E|SCUBE2_ENST00000450649.2_Missense_Mutation_p.K461E|RP11-467K18.2_ENST00000531592.1_RNA	p.K616E			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	16	1920	-			587					Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.1846A>G		.	.	.	.	.	.	.	.	.	.	T	18.49	3.635116	0.67130	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	T;T;D;T	0.84223	-1.23;-1.34;-1.82;-1.42	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.90428	0.7003	M	0.66939	2.045	0.80722	D	1	D;B;B	0.71674	0.998;0.12;0.286	D;B;B	0.80764	0.994;0.199;0.141	D	0.88234	0.2905	10	0.20519	T	0.43	.	15.3885	0.74723	0.0:0.0:0.0:1.0	.	461;616;587	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	E	616;587;461;616	ENSP00000390481:K616E;ENSP00000310658:K587E;ENSP00000415187:K461E;ENSP00000429969:K616E	ENSP00000310658:K587E	K	-	1	0	SCUBE2	9025635	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	7.840000	0.86819	2.105000	0.64084	0.533000	0.62120	AAA		0.567	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		15	62	0	0	0	0.457914	0	15	62				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000584811.1_Splice_Site	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000225576.3_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		4	80	0	0	0	0.184627	0	4	80				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	65	0	0	0	0.150653	0	4	65				
KANSL1L	151050	broad.mit.edu	37	2	210993896	210993896	+	Splice_Site	SNP	A	A	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:210993896A>G	ENST00000281772.9	-	3	1352	c.1089T>C	c.(1087-1089)gtT>gtC	p.V363V	KANSL1L_ENST00000418791.1_Splice_Site_p.V363V|KANSL1L_ENST00000452086.1_Splice_Site_p.V363V|KANSL1L_ENST00000457374.1_Splice_Site_p.V363V	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	363						histone acetyltransferase complex (GO:0000123)											TACTACAGTTACTGTGAACAA	0.403																																						ENST00000281772.9																			0											c.e3-1		KAT8 regulatory NSL complex subunit 1-like							129.0	119.0	123.0					2																	210993896		2203	4300	6503	SO:0001630	splice_region_variant	151050							g.chr2:210993896A>G	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1089-1T>C	2.37:g.210993896A>G						KANSL1L_ENST00000418791.1_Splice_Site_p.V363_splice|KANSL1L_ENST00000452086.1_Splice_Site_p.V363_splice|KANSL1L_ENST00000457374.1_Splice_Site_p.V363_splice	p.V363_splice	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			3	1352	-			363					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Splice_Site	SNP	ENST00000281772.9	37	c.1088_splice	CCDS33370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.32|12.32	1.901263|1.901263	0.33535|0.33535	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000438563;ENST00000415553|ENST00000428655	.|.	.|.	.|.	5.52|5.52	3.03|3.03	0.35002|0.35002	.|.	.|.	.|.	.|.	.|.	T|.	0.47655|.	0.1457|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36359|.	-0.9751|.	4|.	.|.	.|.	.|.	.|.	4.537|4.537	0.12038|0.12038	0.6438:0.1685:0.1877:0.0|0.6438:0.1685:0.1877:0.0	.|.	.|.	.|.	.|.	S|Q	37;82|58	.|.	.|.	L|X	-|-	2|1	0|0	C2orf67|C2orf67	210702141|210702141	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	1.909000|1.909000	0.39917|0.39917	0.935000|0.935000	0.37341|0.37341	0.482000|0.482000	0.46254|0.46254	TTA|TAA		0.403	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519	Silent	30	85	0	0	0	0.750413	0	30	85				
LECT1	11061	broad.mit.edu	37	13	53286893	53286893	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr13:53286893C>G	ENST00000377962.3	-	5	658	c.580G>C	c.(580-582)Ggt>Cgt	p.G194R	LECT1_ENST00000448904.2_Missense_Mutation_p.G194R			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	194	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GGAAGGTCACCGCAGAGTTCT	0.398																																						ENST00000448904.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(580-582)Ggt>Cgt		leukocyte cell derived chemotaxin 1							117.0	123.0	121.0					13																	53286893		2203	4300	6503	SO:0001583	missense	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53286893C>G	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.580G>C	13.37:g.53286893C>G	ENSP00000367198:p.Gly194Arg					LECT1_ENST00000377962.3_Missense_Mutation_p.G194R	p.G194R	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	5	690	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	194			BRICHOS.		Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	c.580G>C	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807761	0.50421	.	.	ENSG00000136110	ENST00000448904;ENST00000377962;ENST00000431550	T;T;T	0.79247	-1.25;-1.25;-1.25	5.18	5.18	0.71444	BRICHOS (2);	0.353337	0.33161	N	0.005208	T	0.81302	0.4794	L	0.43152	1.355	0.41589	D	0.98878	D;D;D	0.65815	0.995;0.968;0.975	P;P;P	0.61533	0.89;0.654;0.766	T	0.79787	-0.1656	10	0.33940	T	0.23	-20.3117	14.054	0.64756	0.0:0.9256:0.0:0.0744	.	230;194;194	Q5TAN5;O75829-2;O75829	.;.;LECT1_HUMAN	R	194;194;116	ENSP00000388576:G194R;ENSP00000367198:G194R;ENSP00000396035:G116R	ENSP00000367198:G194R	G	-	1	0	LECT1	52184894	0.199000	0.23386	0.865000	0.33974	0.715000	0.41141	3.625000	0.54238	2.407000	0.81776	0.650000	0.86243	GGT		0.398	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			32	66	0	0	0	0.750413	0	32	66				
PTPRO	5800	broad.mit.edu	37	12	15710429	15710429	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr12:15710429G>T	ENST00000281171.4	+	16	2929	c.2599G>T	c.(2599-2601)Gag>Tag	p.E867*	PTPRO_ENST00000544244.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000445537.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000348962.2_Nonsense_Mutation_p.E867*|PTPRO_ENST00000542557.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000442921.2_Nonsense_Mutation_p.E56*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	867					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGCATCCTTAGAGAGGGATGG	0.398																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(2599-2601)Gag>Tag		protein tyrosine phosphatase, receptor type, O							210.0	198.0	202.0					12																	15710429		2203	4300	6503	SO:0001587	stop_gained	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15710429G>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2599G>T	12.37:g.15710429G>T	ENSP00000281171:p.Glu867*					PTPRO_ENST00000442921.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000542557.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000445537.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000544244.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000348962.2_Nonsense_Mutation_p.E867*	p.E867*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			16	2929	+		Hepatocellular(102;0.244)	867					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Nonsense_Mutation	SNP	ENST00000281171.4	37	c.2599G>T	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	42	9.381745	0.99155	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	.	.	.	4.75	4.75	0.60458	.	0.000000	0.49305	D	0.000150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	17.931	0.88998	0.0:0.0:1.0:0.0	.	.	.	.	X	867;867;56;56;56;56	.	ENSP00000281171:E867X	E	+	1	0	PTPRO	15601696	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	9.257000	0.95545	2.480000	0.83734	0.467000	0.42956	GAG		0.398	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			21	49	1	0	4.96729e-08	0.575678	5.80791e-08	21	49				
PMM1	5372	broad.mit.edu	37	22	41980560	41980560	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr22:41980560A>C	ENST00000216259.7	-	3	337	c.253T>G	c.(253-255)Tat>Gat	p.Y85D	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	85					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CCGTGCTTATACTGCACCGTC	0.542																																						ENST00000216259.7																			0				NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						c.(253-255)Tat>Gat		phosphomannomutase 1							95.0	89.0	91.0					22																	41980560		2203	4300	6503	SO:0001583	missense	5372				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	g.chr22:41980560A>C		CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"""brain glucose-1,6-bisphosphatase"""	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.253T>G	22.37:g.41980560A>C	ENSP00000216259:p.Tyr85Asp					PMM1_ENST00000466645.1_5'UTR	p.Y85D	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN			3	337	-			85					A8K003|Q92586	Missense_Mutation	SNP	ENST00000216259.7	37	c.253T>G	CCDS14020.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.007858	0.75046	.	.	ENSG00000100417	ENST00000216259	D	0.98792	-5.14	4.76	4.76	0.60689	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.98166	0.9394	M	0.90650	3.135	0.80722	D	1	P	0.34780	0.468	B	0.32677	0.15	D	0.99129	1.0852	10	0.87932	D	0	-16.8555	14.2738	0.66167	1.0:0.0:0.0:0.0	.	85	Q92871	PMM1_HUMAN	D	85	ENSP00000216259:Y85D	ENSP00000216259:Y85D	Y	-	1	0	PMM1	40310506	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	9.116000	0.94341	1.778000	0.52293	0.455000	0.32223	TAT		0.542	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3	NM_002676		4	91	0	0	0	0.150653	0	4	91				
PCYOX1L	78991	broad.mit.edu	37	5	148747557	148747557	+	Splice_Site	SNP	G	G	A	rs34811631		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr5:148747557G>A	ENST00000274569.4	+	6	887	c.825G>A	c.(823-825)gaG>gaA	p.E275E	PCYOX1L_ENST00000514349.1_Splice_Site_p.E185E	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	275					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTCCAGAGGGGAAAGCCC	0.532											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)	ENST00000514349.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.e5-1		prenylcysteine oxidase 1 like							98.0	94.0	95.0					5																	148747557		2203	4300	6503	SO:0001630	splice_region_variant	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148747557G>A		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.824-1G>A	5.37:g.148747557G>A			OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719	PCYOX1L_ENST00000274569.4_Splice_Site_p.E275_splice	p.E185_splice			Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1134	+			275					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Splice_Site	SNP	ENST00000274569.4	37	c.553_splice	CCDS4296.1																																																																																				0.532	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028	Silent	32	101	0	0	0	0.760397	0	32	101				
LPHN3	23284	broad.mit.edu	37	4	62599226	62599226	+	Silent	SNP	C	C	T	rs373960206		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:62599226C>T	ENST00000514591.1	+	7	1478	c.1149C>T	c.(1147-1149)caC>caT	p.H383H	LPHN3_ENST00000507625.1_Silent_p.H451H|LPHN3_ENST00000509896.1_Silent_p.H451H|LPHN3_ENST00000506746.1_Silent_p.H451H|LPHN3_ENST00000512091.2_Silent_p.H383H|LPHN3_ENST00000514996.1_Silent_p.H383H|LPHN3_ENST00000511324.1_Silent_p.H451H|LPHN3_ENST00000545650.1_Silent_p.H383H|LPHN3_ENST00000514157.1_Silent_p.H383H|LPHN3_ENST00000508946.1_Silent_p.H383H|LPHN3_ENST00000508693.1_Silent_p.H451H|LPHN3_ENST00000506720.1_Silent_p.H451H|LPHN3_ENST00000506700.1_Silent_p.H383H|LPHN3_ENST00000507164.1_Silent_p.H451H|LPHN3_ENST00000504896.1_Silent_p.H383H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	383	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATAACTATCACGTCGTGAAAT	0.388																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(1147-1149)caC>caT		latrophilin 3							60.0	54.0	56.0					4																	62599226		1845	4099	5944	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62599226C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1149C>T	4.37:g.62599226C>T						LPHN3_ENST00000511324.1_Silent_p.H451H|LPHN3_ENST00000508693.1_Silent_p.H451H|LPHN3_ENST00000514996.1_Silent_p.H383H|LPHN3_ENST00000507164.1_Silent_p.H451H|LPHN3_ENST00000506720.1_Silent_p.H451H|LPHN3_ENST00000508946.1_Silent_p.H383H|LPHN3_ENST00000545650.1_Silent_p.H383H|LPHN3_ENST00000514157.1_Silent_p.H383H|LPHN3_ENST00000506700.1_Silent_p.H383H|LPHN3_ENST00000507625.1_Silent_p.H451H|LPHN3_ENST00000506746.1_Silent_p.H451H|LPHN3_ENST00000509896.1_Silent_p.H451H|LPHN3_ENST00000504896.1_Silent_p.H383H|LPHN3_ENST00000514591.1_Silent_p.H383H	p.H383H			Q9HAR2	LPHN3_HUMAN			7	1896	+			383			Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.1149C>T	CCDS54768.1																																																																																				0.388	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			10	32	0	0	0	0.361761	0	10	32				
PCDH18	54510	broad.mit.edu	37	4	138451634	138451634	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:138451634C>A	ENST00000344876.4	-	1	1995	c.1609G>T	c.(1609-1611)Gaa>Taa	p.E537*	PCDH18_ENST00000412923.2_Nonsense_Mutation_p.E537*|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Nonsense_Mutation_p.E317*|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGACTCACTTCTTCATGATCA	0.418																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1609-1611)Gaa>Taa		protocadherin 18							122.0	122.0	122.0					4																	138451634		2203	4300	6503	SO:0001587	stop_gained	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451634C>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1609G>T	4.37:g.138451634C>A	ENSP00000355082:p.Glu537*					PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Nonsense_Mutation_p.E537*|PCDH18_ENST00000507846.1_Nonsense_Mutation_p.E317*	p.E537*	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	1995	-	all_hematologic(180;0.24)		537			Cadherin 5.		A8K7K3|B7ZKT1|Q52LS2	Nonsense_Mutation	SNP	ENST00000344876.4	37	c.1609G>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	42	9.684594	0.99238	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	.	.	.	5.93	5.93	0.95920	.	0.000000	0.43919	D	0.000509	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	.	.	.	X	537;537;317	.	ENSP00000355082:E537X	E	-	1	0	PCDH18	138671084	1.000000	0.71417	0.981000	0.43875	0.945000	0.59286	7.767000	0.85331	2.802000	0.96397	0.563000	0.77884	GAA		0.418	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		48	132	1	0	1.22102e-19	0.870114	1.47297e-19	48	132				
DGKZ	8525	broad.mit.edu	37	11	46396525	46396525	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:46396525A>G	ENST00000454345.1	+	20	2329	c.2204A>G	c.(2203-2205)cAc>cGc	p.H735R	DGKZ_ENST00000421244.2_Missense_Mutation_p.H547R|DGKZ_ENST00000532868.2_Missense_Mutation_p.H551R|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000528615.1_Missense_Mutation_p.H325R|DGKZ_ENST00000318201.8_Missense_Mutation_p.H524R|DGKZ_ENST00000395574.3_Missense_Mutation_p.H513R|DGKZ_ENST00000527911.1_Missense_Mutation_p.H547R|DGKZ_ENST00000343674.6_Missense_Mutation_p.H563R|DGKZ_ENST00000456247.2_Missense_Mutation_p.H546R|MIR4688_ENST00000577966.1_RNA	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	735					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCTGGGGAGCACCACGACTTT	0.637																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(2203-2205)cAc>cGc		diacylglycerol kinase, zeta							51.0	49.0	50.0					11																	46396525		2202	4299	6501	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46396525A>G	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2204A>G	11.37:g.46396525A>G	ENSP00000412178:p.His735Arg					DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Missense_Mutation_p.H551R|DGKZ_ENST00000318201.8_Missense_Mutation_p.H524R|DGKZ_ENST00000528615.1_Missense_Mutation_p.H325R|DGKZ_ENST00000343674.6_Missense_Mutation_p.H563R|DGKZ_ENST00000527911.1_Missense_Mutation_p.H547R|DGKZ_ENST00000456247.2_Missense_Mutation_p.H546R|DGKZ_ENST00000421244.2_Missense_Mutation_p.H547R|DGKZ_ENST00000395574.3_Missense_Mutation_p.H513R	p.H735R	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	20	2329	+			735					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.2204A>G	CCDS41640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.73|16.73	3.204744|3.204744	0.58234|0.58234	.|.	.|.	ENSG00000149091|ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345|ENST00000524869	T;T;T;T;T;T;T;T;T|.	0.28255|.	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62|.	4.62|4.62	4.62|4.62	0.57501|0.57501	Diacylglycerol kinase, accessory domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52533|0.52533	0.1740|0.1740	L|L	0.28115|0.28115	0.83|0.83	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B;B;B;B|.	0.23806|.	0.02;0.0;0.091;0.02;0.011;0.002;0.009;0.011;0.02|.	B;B;B;B;B;B;B;B;B|.	0.28991|.	0.033;0.008;0.097;0.022;0.021;0.008;0.013;0.022;0.022|.	T|T	0.49588|0.49588	-0.8924|-0.8924	10|5	0.25751|.	T|.	0.34|.	.|.	14.3245|14.3245	0.66509|0.66509	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	524;512;490;547;735;546;547;513;563|.	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7|.	.;.;.;.;DGKZ_HUMAN;.;.;.;.|.	R|A	563;325;513;512;547;546;547;524;735|102	ENSP00000343065:H563R;ENSP00000434719:H325R;ENSP00000378941:H513R;ENSP00000436273:H512R;ENSP00000436291:H547R;ENSP00000395684:H546R;ENSP00000391021:H547R;ENSP00000320340:H524R;ENSP00000412178:H735R|.	ENSP00000320340:H524R|.	H|T	+|+	2|1	0|0	DGKZ|DGKZ	46353101|46353101	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	7.389000|7.389000	0.79806|0.79806	1.862000|1.862000	0.54008|0.54008	0.459000|0.459000	0.35465|0.35465	CAC|ACC		0.637	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		9	31	0	0	0	0.335167	0	9	31				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	108	0	0	0	0.150653	0	4	108				
PADI3	51702	broad.mit.edu	37	1	17594365	17594365	+	Missense_Mutation	SNP	C	C	T	rs146396025	byFrequency	TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:17594365C>T	ENST00000375460.3	+	6	600	c.560C>T	c.(559-561)aCg>aTg	p.T187M		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	187					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTCCTGCGGACGCAGGGCCCT	0.577																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(559-561)aCg>aTg		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	121.0	97.0	105.0		560	4.5	1.0	1	dbSNP_134	105	0,8600		0,0,4300	yes	missense	PADI3	NM_016233.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	187/665	17594365	1,13005	2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17594365C>T	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.560C>T	1.37:g.17594365C>T	ENSP00000364609:p.Thr187Met						p.T187M	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	6	600	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	187					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.560C>T	CCDS179.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610427	0.46527	2.27E-4	0.0	ENSG00000142619	ENST00000375460	T	0.20881	2.04	5.42	4.51	0.55191	Protein-arginine deiminase (PAD), central domain (2);	0.095886	0.64402	D	0.000001	T	0.20414	0.0491	M	0.69523	2.12	0.43368	D	0.995455	P	0.39903	0.694	B	0.30572	0.117	T	0.03875	-1.0996	10	0.54805	T	0.06	-32.8818	9.5284	0.39178	0.0:0.838:0.0:0.162	.	187	Q9ULW8	PADI3_HUMAN	M	187	ENSP00000364609:T187M	ENSP00000364609:T187M	T	+	2	0	PADI3	17466952	1.000000	0.71417	0.998000	0.56505	0.626000	0.37791	4.641000	0.61375	1.300000	0.44818	-0.224000	0.12420	ACG		0.577	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			34	81	0	0	0	0.750413	0	34	81				
KLHL2	11275	broad.mit.edu	37	4	166234520	166234520	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:166234520T>C	ENST00000226725.6	+	12	1727		c.e12+2		KLHL2_ENST00000538127.1_Splice_Site|KLHL2_ENST00000421009.2_Splice_Site|KLHL2_ENST00000506761.1_Splice_Site|KLHL2_ENST00000514860.1_Splice_Site|KLHL2_ENST00000509028.1_Splice_Site	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2						protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GTGGAGCAGGTACATGTGAAC	0.383																																						ENST00000226725.6																			0				endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14						c.e12+2		kelch-like family member 2							115.0	106.0	109.0					4																	166234520		2203	4300	6503	SO:0001630	splice_region_variant	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166234520T>C	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1468+2T>C	4.37:g.166234520T>C						KLHL2_ENST00000506761.1_Splice_Site|KLHL2_ENST00000538127.1_Splice_Site|KLHL2_ENST00000514860.1_Splice_Site|KLHL2_ENST00000509028.1_Splice_Site|KLHL2_ENST00000421009.2_Splice_Site		NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	12	1727	+	all_hematologic(180;0.221)							A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Splice_Site	SNP	ENST00000226725.6	37		CCDS34094.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.173371	0.38413	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHL2	166453970	1.000000	0.71417	0.970000	0.41538	0.048000	0.14542	6.302000	0.72788	2.281000	0.76405	0.533000	0.62120	.		0.383	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1		Intron	16	50	0	0	0	0.557998	0	16	50				
FILIP1	27145	broad.mit.edu	37	6	76022647	76022647	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr6:76022647A>C	ENST00000237172.7	-	5	3231	c.2901T>G	c.(2899-2901)agT>agG	p.S967R	FILIP1_ENST00000393004.2_Missense_Mutation_p.S967R|FILIP1_ENST00000370020.1_Missense_Mutation_p.S868R|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	967										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TAGTATCTCCACTTTTTTGTT	0.413																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2899-2901)agT>agG		filamin A interacting protein 1							112.0	111.0	112.0					6																	76022647		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022647A>C	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2901T>G	6.37:g.76022647A>C	ENSP00000237172:p.Ser967Arg					FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.S967R|FILIP1_ENST00000370020.1_Missense_Mutation_p.S868R	p.S967R			Q7Z7B0	FLIP1_HUMAN			5	3122	-			967					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2901T>G	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.339231	0.24339	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.19394	2.15;2.15;2.15	5.8	-4.56	0.03431	.	0.349906	0.32987	N	0.005412	T	0.03390	0.0098	N	0.24115	0.695	0.23510	N	0.997527	B;B;P	0.35542	0.38;0.375;0.508	B;B;B	0.39503	0.102;0.158;0.301	T	0.33879	-0.9851	10	0.35671	T	0.21	-1.9222	1.5642	0.02601	0.2844:0.0989:0.3325:0.2842	.	967;967;967	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	R	967;967;868	ENSP00000376728:S967R;ENSP00000237172:S967R;ENSP00000359037:S868R	ENSP00000237172:S967R	S	-	3	2	FILIP1	76079367	0.000000	0.05858	0.963000	0.40424	0.527000	0.34593	-0.533000	0.06157	-0.159000	0.11021	0.533000	0.62120	AGT		0.413	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		40	94	0	0	0	0.812448	0	40	94				
GNAL	2774	broad.mit.edu	37	18	11881048	11881048	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr18:11881048G>A	ENST00000423027.3	+	12	1381	c.1060G>A	c.(1060-1062)Gtg>Atg	p.V354M	GNAL_ENST00000602628.1_Missense_Mutation_p.V147M|GNAL_ENST00000269162.5_Missense_Mutation_p.V354M|GNAL_ENST00000535121.1_Missense_Mutation_p.V354M|GNAL_ENST00000334049.6_Missense_Mutation_p.V431M			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	354					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						CACCTGCGCCGTGGACACAGA	0.607																																						ENST00000334049.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(1291-1293)Gtg>Atg		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type							99.0	68.0	79.0					18																	11881048		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11881048G>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.1060G>A	18.37:g.11881048G>A	ENSP00000408489:p.Val354Met					GNAL_ENST00000602628.1_Missense_Mutation_p.V147M|GNAL_ENST00000423027.3_Missense_Mutation_p.V354M|GNAL_ENST00000269162.5_Missense_Mutation_p.V354M|GNAL_ENST00000535121.1_Missense_Mutation_p.V354M|GNAL_ENST00000535980.1_3'UTR	p.V431M	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN			12	1899	+			354					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.1291G>A	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845500	0.91197	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027;ENST00000535980	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.55	5.55	0.83447	.	0.272597	0.41605	D	0.000856	D	0.95570	0.8560	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.985;0.991	D	0.95963	0.8963	10	0.87932	D	0	.	19.4958	0.95072	0.0:0.0:1.0:0.0	.	354;431	P38405;Q86XU3	GNAL_HUMAN;.	M	293;431;354;354;354;147	ENSP00000334051:V431M;ENSP00000439023:V354M;ENSP00000269162:V354M;ENSP00000408489:V354M	ENSP00000269162:V354M	V	+	1	0	GNAL	11871048	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	7.974000	0.88039	2.591000	0.87537	0.563000	0.77884	GTG		0.607	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		16	23	0	0	0	0.500413	0	16	23				
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr17:47696432A>C	ENST00000393328.2	-	6	756	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393331.3_Missense_Mutation_p.W131G	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Ggg		speckle-type POZ protein							121.0	124.0	123.0					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>G	17.37:g.47696432A>C	ENSP00000377001:p.Trp131Gly	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G	p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058244	0.76074	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	H	0.95402	3.665	0.80722	D	1	P	0.43024	0.798	P	0.47786	0.557	D	0.87031	0.2135	10	0.72032	D	0.01	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	G	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131G;ENSP00000377004:W131G;ENSP00000240327:W131G;ENSP00000425905:W131G;ENSP00000420908:W131G;ENSP00000426986:W131G;ENSP00000420960:W131G;ENSP00000426262:W131G;ENSP00000424119:W131G	ENSP00000240327:W131G	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		51	126	0	0	0	0.870114	0	51	126				
ASCC3	10973	broad.mit.edu	37	6	101098516	101098516	+	Silent	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr6:101098516T>C	ENST00000369162.2	-	20	3494	c.3150A>G	c.(3148-3150)gtA>gtG	p.V1050V		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1050	SEC63 1.		V -> I (in dbSNP:rs9497983).		cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AACTATTCTCTACACCTCCAG	0.363																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(3148-3150)gtA>gtG		activating signal cointegrator 1 complex subunit 3							108.0	111.0	110.0					6																	101098516		2203	4300	6503	SO:0001819	synonymous_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101098516T>C	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.3150A>G	6.37:g.101098516T>C							p.V1050V	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	20	3494	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1050		V -> I (in dbSNP:rs9497983).	SEC63 1.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	37	c.3150A>G	CCDS5046.1																																																																																				0.363	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		28	40	0	0	0	0.693898	0	28	40				
CYTIP	9595	broad.mit.edu	37	2	158272362	158272362	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:158272362G>A	ENST00000264192.3	-	8	1028	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	CYTIP_ENST00000540637.1_Missense_Mutation_p.R197W	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	303	Ser-rich.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CTGATGCTCCGGTTCCTCCTT	0.547																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(907-909)Cgg>Tgg		cytohesin 1 interacting protein							118.0	109.0	112.0					2																	158272362		2203	4300	6503	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158272362G>A	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.907C>T	2.37:g.158272362G>A	ENSP00000264192:p.Arg303Trp					CYTIP_ENST00000540637.1_Missense_Mutation_p.R197W	p.R303W	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			8	1028	-			303			Ser-rich.		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.907C>T	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.245004	0.39697	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	T;T	0.51574	1.98;0.7	5.76	4.77	0.60923	.	0.143213	0.53938	D	0.000046	T	0.66147	0.2760	M	0.74881	2.28	0.30627	N	0.757886	D	0.89917	1.0	D	0.67548	0.952	T	0.68021	-0.5519	10	0.87932	D	0	-11.1893	13.7649	0.62988	0.0:0.0:0.7416:0.2584	.	303	O60759	CYTIP_HUMAN	W	303;197	ENSP00000264192:R303W;ENSP00000440801:R197W	ENSP00000264192:R303W	R	-	1	2	CYTIP	157980608	1.000000	0.71417	0.476000	0.27291	0.105000	0.19272	4.629000	0.61290	2.882000	0.98803	0.655000	0.94253	CGG		0.547	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		28	67	0	0	0	0.717897	0	28	67				
SPAG1	6674	broad.mit.edu	37	8	101206436	101206436	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr8:101206436A>T	ENST00000388798.2	+	10	1227	c.1036A>T	c.(1036-1038)Aac>Tac	p.N346Y	SPAG1_ENST00000520643.1_Missense_Mutation_p.N346Y|SPAG1_ENST00000520508.1_Missense_Mutation_p.N346Y|SPAG1_ENST00000251809.3_Missense_Mutation_p.N346Y	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	346					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GGAAATAGAAAACTCCGAAGA	0.373																																						ENST00000388798.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(1036-1038)Aac>Tac		sperm associated antigen 1							61.0	62.0	62.0					8																	101206436		2203	4300	6503	SO:0001583	missense	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101206436A>T	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.1036A>T	8.37:g.101206436A>T	ENSP00000373450:p.Asn346Tyr					SPAG1_ENST00000520643.1_Missense_Mutation_p.N346Y|SPAG1_ENST00000520508.1_Missense_Mutation_p.N346Y|SPAG1_ENST00000251809.3_Missense_Mutation_p.N346Y	p.N346Y	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	10	1227	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	346					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	c.1036A>T	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.390963	0.62066	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.62105	2.89;0.05;2.89;0.05	5.39	1.65	0.23941	.	0.304354	0.32518	N	0.005997	T	0.60366	0.2263	L	0.52573	1.65	0.29673	N	0.842341	D;D	0.61080	0.981;0.989	P;P	0.55112	0.635;0.769	T	0.58126	-0.7691	10	0.62326	D	0.03	-7.9385	2.9705	0.05922	0.4557:0.2367:0.3076:0.0	.	346;346	Q07617;G3XAM3	SPAG1_HUMAN;.	Y	346	ENSP00000427716:N346Y;ENSP00000251809:N346Y;ENSP00000428070:N346Y;ENSP00000373450:N346Y	ENSP00000251809:N346Y	N	+	1	0	SPAG1	101275612	1.000000	0.71417	0.999000	0.59377	0.770000	0.43624	1.232000	0.32636	0.345000	0.23873	0.397000	0.26171	AAC		0.373	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		9	20	0	0	0	0.335167	0	9	20				
SLC25A46	91137	broad.mit.edu	37	5	110097209	110097209	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr5:110097209C>T	ENST00000355943.3	+	8	1110	c.984C>T	c.(982-984)gaC>gaT	p.D328D	SLC25A46_ENST00000509442.2_Silent_p.D237D|SLC25A46_ENST00000447245.2_Silent_p.D247D|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Silent_p.D182D|SLC25A46_ENST00000513807.1_Silent_p.D166D|SLC25A46_ENST00000509432.1_Silent_p.D115D	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	328					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TTTGTTCTGACGTTATACTTT	0.428																																						ENST00000355943.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(982-984)gaC>gaT		solute carrier family 25, member 46							288.0	278.0	281.0					5																	110097209		2202	4300	6502	SO:0001819	synonymous_variant	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110097209C>T	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.984C>T	5.37:g.110097209C>T						SLC25A46_ENST00000447245.2_Silent_p.D247D|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509432.1_Silent_p.D115D|SLC25A46_ENST00000509442.2_Silent_p.D237D|SLC25A46_ENST00000513807.1_Silent_p.D166D|SLC25A46_ENST00000504098.1_Silent_p.D182D	p.D328D	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	8	1110	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	328					A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Silent	SNP	ENST00000355943.3	37	c.984C>T	CCDS4100.1																																																																																				0.428	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		17	340	0	0	0	0.575678	0	17	340				
TCERG1	10915	broad.mit.edu	37	5	145838656	145838656	+	Silent	SNP	G	G	A	rs569890952		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr5:145838656G>A	ENST00000296702.5	+	4	686	c.648G>A	c.(646-648)caG>caA	p.Q216Q	TCERG1_ENST00000394421.2_Silent_p.Q216Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	216	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			cccaggcccaggcccaggccc	0.731																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(646-648)caG>caA		transcription elongation regulator 1							10.0	14.0	13.0					5																	145838656		2190	4261	6451	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838656G>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.648G>A	5.37:g.145838656G>A						TCERG1_ENST00000394421.2_Silent_p.Q216Q	p.Q216Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	686	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	216			Ala/Gln-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.648G>A	CCDS4282.1																																																																																				0.731	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		3	28	0	0	0	0.150653	0	3	28				
ADAMTS5	11096	broad.mit.edu	37	21	28306855	28306855	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr21:28306855G>A	ENST00000284987.5	-	4	1740	c.1619C>T	c.(1618-1620)aCg>aTg	p.T540M	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	540	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCCACAAGGCGTCCCTTCCAC	0.522																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(1618-1620)aCg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 5							98.0	89.0	92.0					21																	28306855		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28306855G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1619C>T	21.37:g.28306855G>A	ENSP00000284987:p.Thr540Met					AP001601.2_ENST00000426771.1_RNA	p.T540M	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			4	1740	-			540			Disintegrin.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.1619C>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648468	0.87958	.	.	ENSG00000154736	ENST00000284987	T	0.72394	-0.65	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.84714	0.5533	M	0.90977	3.165	0.80722	D	1	D	0.69078	0.997	P	0.53102	0.718	D	0.88134	0.2840	10	0.87932	D	0	.	19.7912	0.96458	0.0:0.0:1.0:0.0	.	540	Q9UNA0	ATS5_HUMAN	M	540	ENSP00000284987:T540M	ENSP00000284987:T540M	T	-	2	0	ADAMTS5	27228726	1.000000	0.71417	0.750000	0.31169	0.728000	0.41692	9.405000	0.97313	2.694000	0.91930	0.557000	0.71058	ACG		0.522	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			14	74	0	0	0	0.500413	0	14	74				
NPHS1	4868	broad.mit.edu	37	19	36334480	36334480	+	Missense_Mutation	SNP	C	C	T	rs386833910		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr19:36334480C>T	ENST00000378910.5	-	17	2227	c.2228G>A	c.(2227-2229)cGt>cAt	p.R743H	NPHS1_ENST00000353632.6_Missense_Mutation_p.R743H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	743	Ig-like C2-type 7.		R -> C (in NPHS1; does not affect protein expression on the cell surface). {ECO:0000269|PubMed:11317351, ECO:0000269|PubMed:20172850, ECO:0000269|PubMed:9915943}.		cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.R743L(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGAGGGCACGGATGGTGGG	0.612																																						ENST00000378910.5																			1	Substitution - Missense(1)	p.R743L(1)	lung(1)	NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2227-2229)cGt>cAt		nephrosis 1, congenital, Finnish type (nephrin)							102.0	87.0	92.0					19																	36334480		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36334480C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2228G>A	19.37:g.36334480C>T	ENSP00000368190:p.Arg743His					NPHS1_ENST00000353632.6_Missense_Mutation_p.R743H	p.R743H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		17	2227	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		743		R -> C (in NPHS1; does not affect protein expression on the cell surface).	Ig-like C2-type 7.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2228G>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647722	0.67358	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.13420	2.59;2.59	5.04	5.04	0.67666	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.387540	0.24947	N	0.034340	T	0.14313	0.0346	L	0.31476	0.935	0.47949	D	0.99955	D	0.55605	0.972	P	0.46237	0.508	T	0.01436	-1.1355	10	0.45353	T	0.12	-11.0318	14.3119	0.66422	0.0:1.0:0.0:0.0	.	743	O60500	NPHN_HUMAN	H	743	ENSP00000368190:R743H;ENSP00000343634:R743H	ENSP00000343634:R743H	R	-	2	0	NPHS1	41026320	0.996000	0.38824	0.996000	0.52242	0.956000	0.61745	2.509000	0.45459	2.532000	0.85374	0.456000	0.33151	CGT		0.612	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			5	117	0	0	0	0.184627	0	5	117				
C1orf146	388649	broad.mit.edu	37	1	92709886	92709886	+	Silent	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:92709886G>A	ENST00000370375.3	+	4	421	c.273G>A	c.(271-273)ttG>ttA	p.L91L	C1orf146_ENST00000370373.2_Silent_p.L32L	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	91										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		TTTTGGTTTTGTCTGCTGCCC	0.328																																						ENST00000370373.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(94-96)ttG>ttA		chromosome 1 open reading frame 146							46.0	46.0	46.0					1																	92709886		2203	4298	6501	SO:0001819	synonymous_variant	388649							g.chr1:92709886G>A		CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.273G>A	1.37:g.92709886G>A						C1orf146_ENST00000370375.3_Silent_p.L91L	p.L32L			Q5VVC0	CA146_HUMAN		all cancers(265;0.00846)|Epithelial(280;0.0952)	5	560	+		all_lung(203;0.00528)|Lung NSC(277;0.0193)	91					Q5VVC4	Silent	SNP	ENST00000370375.3	37	c.96G>A	CCDS30772.1																																																																																				0.328	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028364.1	NM_001012425		10	25	0	0	0	0.411799	0	10	25				
RPS6KA4	8986	broad.mit.edu	37	11	64137784	64137784	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:64137784C>T	ENST00000334205.4	+	15	1950	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.R381C|RPS6KA4_ENST00000528057.1_Missense_Mutation_p.R622C|MIR1237_ENST00000408346.1_RNA	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	629	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GTGCAAAATCCGCGAGGGGCG	0.657																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(1864-1866)Cgc>Tgc		ribosomal protein S6 kinase, 90kDa, polypeptide 4							46.0	55.0	52.0					11																	64137784		2201	4295	6496	SO:0001583	missense	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64137784C>T	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1885C>T	11.37:g.64137784C>T	ENSP00000333896:p.Arg629Cys					RPS6KA4_ENST00000294261.4_Missense_Mutation_p.R381C|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.R629C	p.R622C	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			15	1952	+			629			Protein kinase 2.		A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	c.1864C>T	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	c	18.06	3.539509	0.65085	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.66460	-0.21;-0.21;1.05;-0.21	4.3	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.067988	0.64402	D	0.000020	T	0.65668	0.2713	N	0.26130	0.795	0.35033	D	0.758964	D;D;B;D	0.76494	0.998;0.997;0.211;0.999	P;P;B;P	0.61275	0.649;0.828;0.117;0.886	T	0.71912	-0.4449	10	0.38643	T	0.18	.	9.6433	0.39853	0.2088:0.7912:0.0:0.0	.	381;622;629;623	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	C	622;629;381;607	ENSP00000435580:R622C;ENSP00000333896:R629C;ENSP00000294261:R381C;ENSP00000432945:R607C	ENSP00000294261:R381C	R	+	1	0	RPS6KA4	63894360	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.275000	0.51639	1.943000	0.56356	0.484000	0.47621	CGC		0.657	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		15	118	0	0	0	0.479597	0	15	118				
TCF4	6925	broad.mit.edu	37	18	52901781	52901781	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr18:52901781C>T	ENST00000356073.4	-	16	2095	c.1484G>A	c.(1483-1485)aGa>aAa	p.R495K	TCF4_ENST00000566279.1_Missense_Mutation_p.R435K|TCF4_ENST00000565018.2_Missense_Mutation_p.R495K|TCF4_ENST00000567880.1_Missense_Mutation_p.R435K|TCF4_ENST00000354452.3_Missense_Mutation_p.R495K|TCF4_ENST00000561831.3_Missense_Mutation_p.R335K|TCF4_ENST00000564403.2_Missense_Mutation_p.R501K|TCF4_ENST00000537856.3_Missense_Mutation_p.R365K|TCF4_ENST00000568673.1_Missense_Mutation_p.R471K|TCF4_ENST00000561992.1_Missense_Mutation_p.R365K|TCF4_ENST00000537578.1_Missense_Mutation_p.R471K|TCF4_ENST00000570287.2_Missense_Mutation_p.R335K|TCF4_ENST00000564228.1_Missense_Mutation_p.R424K|TCF4_ENST00000570177.2_Missense_Mutation_p.R365K|TCF4_ENST00000540999.1_Missense_Mutation_p.R471K|TCF4_ENST00000457482.3_Missense_Mutation_p.R335K|TCF4_ENST00000568740.1_Missense_Mutation_p.R470K|TCF4_ENST00000566286.1_Missense_Mutation_p.R492K|TCF4_ENST00000543082.1_Missense_Mutation_p.R453K|TCF4_ENST00000544241.2_Missense_Mutation_p.R424K|TCF4_ENST00000564999.1_Missense_Mutation_p.R495K|TCF4_ENST00000398339.1_Missense_Mutation_p.R597K	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	495					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CAACCTACCTCTGTAAGGGTC	0.557											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000354452.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(1483-1485)aGa>aAa		transcription factor 4							92.0	90.0	91.0					18																	52901781		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52901781C>T	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1484G>A	18.37:g.52901781C>T	ENSP00000348374:p.Arg495Lys		OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	988	TCF4_ENST00000537578.1_Missense_Mutation_p.R471K|TCF4_ENST00000567880.1_Missense_Mutation_p.R435K|TCF4_ENST00000565018.2_Missense_Mutation_p.R495K|TCF4_ENST00000566279.1_Missense_Mutation_p.R435K|TCF4_ENST00000543082.1_Missense_Mutation_p.R453K|TCF4_ENST00000537856.3_Missense_Mutation_p.R365K|TCF4_ENST00000561831.3_Missense_Mutation_p.R335K|TCF4_ENST00000566286.1_Missense_Mutation_p.R492K|TCF4_ENST00000544241.2_Missense_Mutation_p.R424K|TCF4_ENST00000570177.2_Missense_Mutation_p.R365K|TCF4_ENST00000564228.1_Missense_Mutation_p.R424K|TCF4_ENST00000540999.1_Missense_Mutation_p.R471K|TCF4_ENST00000564403.2_Missense_Mutation_p.R501K|TCF4_ENST00000398339.1_Missense_Mutation_p.R597K|TCF4_ENST00000570287.2_Missense_Mutation_p.R335K|TCF4_ENST00000568673.1_Missense_Mutation_p.R471K|TCF4_ENST00000564999.1_Missense_Mutation_p.R495K|TCF4_ENST00000561992.1_Missense_Mutation_p.R365K|TCF4_ENST00000356073.4_Missense_Mutation_p.R495K|TCF4_ENST00000457482.3_Missense_Mutation_p.R335K|TCF4_ENST00000568740.1_Missense_Mutation_p.R470K	p.R495K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	16	2095	-			495					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1484G>A	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525665	0.64860	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.17854	2.5;2.25;2.51;2.5;2.51;2.52;2.51;2.26;2.48	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.40145	0.1105	M	0.70595	2.14	0.58432	D	0.999999	P;D;P;B;P;P;P;P;D	0.69078	0.945;0.997;0.486;0.302;0.841;0.895;0.945;0.902;0.967	P;P;B;B;P;P;P;P;P	0.61592	0.622;0.891;0.431;0.117;0.745;0.469;0.622;0.87;0.64	T	0.05321	-1.0892	10	0.46703	T	0.11	-14.2789	18.543	0.91037	0.0:1.0:0.0:0.0	.	471;495;335;597;495;453;424;335;492	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	K	495;335;495;453;471;471;424;365;597	ENSP00000346440:R495K;ENSP00000409447:R335K;ENSP00000348374:R495K;ENSP00000439656:R453K;ENSP00000445202:R471K;ENSP00000440731:R471K;ENSP00000441562:R424K;ENSP00000439827:R365K;ENSP00000381382:R597K	ENSP00000346440:R495K	R	-	2	0	TCF4	51052779	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.464000	0.73534	2.758000	0.94735	0.563000	0.77884	AGA		0.557	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		25	77	0	0	0	0.654019	0	25	77				
PRDM16	63976	broad.mit.edu	37	1	3328642	3328642	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:3328642C>T	ENST00000270722.5	+	9	1930	c.1881C>T	c.(1879-1881)agC>agT	p.S627S	PRDM16_ENST00000514189.1_Silent_p.S628S|PRDM16_ENST00000441472.2_Silent_p.S627S|PRDM16_ENST00000378391.2_Silent_p.S627S|PRDM16_ENST00000511072.1_Silent_p.S628S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378398.3_Silent_p.S628S|PRDM16_ENST00000442529.2_Silent_p.S627S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	627					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACCTGGACAGCGACGTGGACA	0.687			T	EVI1	"""MDS, AML"""																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(1882-1884)agC>agT		PR domain containing 16							64.0	74.0	71.0					1																	3328642		2163	4243	6406	SO:0001819	synonymous_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328642C>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1881C>T	1.37:g.3328642C>T						PRDM16_ENST00000442529.2_Silent_p.S627S|PRDM16_ENST00000441472.2_Silent_p.S627S|PRDM16_ENST00000378391.2_Silent_p.S627S|PRDM16_ENST00000270722.5_Silent_p.S627S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Silent_p.S628S|PRDM16_ENST00000511072.1_Silent_p.S628S	p.S628S			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	10	1966	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	627					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.1884C>T	CCDS41236.2																																																																																				0.687	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		36	113	0	0	0	0.812448	0	36	113				
ADORA1	134	broad.mit.edu	37	1	203134969	203134969	+	Missense_Mutation	SNP	C	C	T	rs201646414		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:203134969C>T	ENST00000367236.4	+	3	1843	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	ADORA1_ENST00000337894.4_Missense_Mutation_p.R308C|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.R308C|ADORA1_ENST00000367235.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	308					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	TGACCATTTCCGCTGCCAGCC	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21675	0.0		0.0	False		,,,				2504	0.0					ENST00000367236.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(922-924)Cgc>Tgc		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						136.0	104.0	115.0					1																	203134969		2203	4300	6503	SO:0001583	missense	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203134969C>T	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.922C>T	1.37:g.203134969C>T	ENSP00000356205:p.Arg308Cys					ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.R308C|ADORA1_ENST00000337894.4_Missense_Mutation_p.R308C|ADORA1_ENST00000472535.1_3'UTR	p.R308C	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN			3	1843	+			308					A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	c.922C>T	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891127	0.33348	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.37411	1.2;1.2;1.2	5.37	5.37	0.77165	.	0.103731	0.64402	D	0.000003	T	0.17789	0.0427	N	0.10874	0.06	0.40892	D	0.984081	B;B;B	0.20671	0.008;0.047;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.10941	-1.0608	10	0.31617	T	0.26	-37.0266	7.0043	0.24828	0.0:0.789:0.0:0.211	.	341;240;308	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	C	308	ENSP00000308549:R308C;ENSP00000356205:R308C;ENSP00000338435:R308C	ENSP00000308549:R308C	R	+	1	0	ADORA1	201401592	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.303000	0.51858	2.505000	0.84491	0.655000	0.94253	CGC		0.582	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		13	77	0	0	0	0.479597	0	13	77				
MRGPRX2	117194	broad.mit.edu	37	11	19077545	19077545	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:19077545G>C	ENST00000329773.2	-	2	492	c.405C>G	c.(403-405)atC>atG	p.I135M		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	135					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGCGATACCAGATGGGCCACA	0.617																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(403-405)atC>atG		MAS-related GPR, member X2							69.0	66.0	67.0					11																	19077545		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077545G>C		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.405C>G	11.37:g.19077545G>C	ENSP00000333800:p.Ile135Met						p.I135M	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	492	-			135					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.405C>G	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	17.94	3.510886	0.64522	.	.	ENSG00000183695	ENST00000329773	T	0.37058	1.22	5.11	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.270264	0.32258	N	0.006348	T	0.46034	0.1372	M	0.69523	2.12	0.25384	N	0.988589	D	0.61697	0.99	P	0.60286	0.872	T	0.37641	-0.9697	10	0.62326	D	0.03	.	2.1159	0.03713	0.171:0.1554:0.5134:0.1602	.	135	Q96LB1	MRGX2_HUMAN	M	135	ENSP00000333800:I135M	ENSP00000333800:I135M	I	-	3	3	MRGPRX2	19034121	1.000000	0.71417	0.983000	0.44433	0.984000	0.73092	2.115000	0.41921	0.404000	0.25506	0.655000	0.94253	ATC		0.617	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		7	108	0	0	0	0.278610	0	7	108				
FRY	10129	broad.mit.edu	37	13	32761791	32761791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr13:32761791C>T	ENST00000380250.3	+	28	4085	c.3589C>T	c.(3589-3591)Cga>Tga	p.R1197*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1197						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCAAGATTTACGAGTAAGTAT	0.413																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(3589-3591)Cga>Tga		furry homolog (Drosophila)							105.0	96.0	99.0					13																	32761791		1922	4138	6060	SO:0001587	stop_gained	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32761791C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3589C>T	13.37:g.32761791C>T	ENSP00000369600:p.Arg1197*						p.R1197*	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	28	4085	+		Lung SC(185;0.0271)	1197					Q9Y3N6	Nonsense_Mutation	SNP	ENST00000380250.3	37	c.3589C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	47	13.569909	0.99750	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	.	.	.	5.91	4.15	0.48705	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	14.0614	0.64802	0.3962:0.6038:0.0:0.0	.	.	.	.	X	1197;36	.	ENSP00000369600:R1197X	R	+	1	2	FRY	31659791	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.001000	0.49488	0.797000	0.33971	0.655000	0.94253	CGA		0.413	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		20	27	0	0	0	0.575678	0	20	27				
ALX4	60529	broad.mit.edu	37	11	44289106	44289106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:44289106G>A	ENST00000329255.3	-	3	947	c.844C>T	c.(844-846)Cga>Tga	p.R282*		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	282					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						AAGTGGGTTCGAACCTGCTGC	0.602																																						ENST00000329255.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(844-846)Cga>Tga		ALX homeobox 4							182.0	144.0	157.0					11																	44289106		2203	4299	6502	SO:0001587	stop_gained	60529				hair follicle development			g.chr11:44289106G>A	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.844C>T	11.37:g.44289106G>A	ENSP00000332744:p.Arg282*						p.R282*	NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN			3	947	-			282					Q96JN7|Q9H198|Q9HAY9	Nonsense_Mutation	SNP	ENST00000329255.3	37	c.844C>T	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	G	38	6.655316	0.97739	.	.	ENSG00000052850	ENST00000329255	.	.	.	4.88	4.88	0.63580	.	0.130922	0.52532	D	0.000079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.578	0.91162	0.0:0.0:1.0:0.0	.	.	.	.	X	282	.	ENSP00000332744:R282X	R	-	1	2	ALX4	44245682	1.000000	0.71417	0.560000	0.28344	0.991000	0.79684	6.301000	0.72782	2.700000	0.92200	0.462000	0.41574	CGA		0.602	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			33	87	0	0	0	0.760397	0	33	87				
PRMT6	55170	broad.mit.edu	37	1	107600027	107600027	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:107600027C>T	ENST00000370078.1	+	1	727	c.690C>T	c.(688-690)ctC>ctT	p.L230L	PRMT6_ENST00000361318.5_Silent_p.L171L			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	230	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CGCGCTGTCTCATGGGCCACT	0.657																																						ENST00000361318.5																			0				biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14						c.(511-513)ctC>ctT		protein arginine methyltransferase 6							48.0	53.0	52.0					1																	107600027		2080	4218	6298	SO:0001819	synonymous_variant	55170				base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr1:107600027C>T	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.690C>T	1.37:g.107600027C>T						PRMT6_ENST00000370078.1_Silent_p.L230L	p.L171L	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)	1	761	+		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)	230					A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Silent	SNP	ENST00000370078.1	37	c.513C>T	CCDS41360.2	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582986	0.28268	.	.	ENSG00000198890	ENST00000540389	.	.	.	5.51	0.356	0.16074	.	.	.	.	.	T	0.46092	0.1375	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49331	-0.8951	5	0.87932	D	0	-14.3429	5.9523	0.19253	0.0:0.5737:0.1274:0.2988	.	.	.	.	Y	124	.	ENSP00000440829:H124Y	H	+	1	0	PRMT6	107401550	1.000000	0.71417	0.991000	0.47740	0.962000	0.63368	0.725000	0.25970	-0.183000	0.10585	-0.417000	0.06048	CAT		0.657	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137		35	77	0	0	0	0.796494	0	35	77				
ZNF576	79177	broad.mit.edu	37	19	44103389	44103389	+	Silent	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr19:44103389G>A	ENST00000336564.4	+	3	646	c.492G>A	c.(490-492)cgG>cgA	p.R164R	ZNF576_ENST00000391965.2_Silent_p.R164R|ZNF576_ENST00000525771.1_Silent_p.R164R|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000533118.1_Silent_p.R164R|ZNF576_ENST00000528387.1_Silent_p.R164R|ZNF576_ENST00000529930.1_Silent_p.R164R|SRRM5_ENST00000526798.1_Intron	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	164					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				ACTACATTCGGCATGCCCGGG	0.612																																						ENST00000336564.4																			0				endometrium(1)|prostate(1)	2						c.(490-492)cgG>cgA		zinc finger protein 576							34.0	30.0	32.0					19																	44103389		2203	4300	6503	SO:0001819	synonymous_variant	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44103389G>A	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"""Zinc fingers, C2H2-type"""	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.492G>A	19.37:g.44103389G>A						ZNF576_ENST00000529930.1_Silent_p.R164R|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000528387.1_Silent_p.R164R|ZNF576_ENST00000533118.1_Silent_p.R164R|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000391965.2_Silent_p.R164R|ZNF576_ENST00000525771.1_Silent_p.R164R	p.R164R	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			3	646	+		Prostate(69;0.0199)	164					Q9BU03	Silent	SNP	ENST00000336564.4	37	c.492G>A	CCDS12625.1																																																																																				0.612	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327		3	37	0	0	0	0.115264	0	3	37				
LRGUK	136332	broad.mit.edu	37	7	133827909	133827909	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr7:133827909C>A	ENST00000285928.2	+	4	651	c.582C>A	c.(580-582)aaC>aaA	p.N194K		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	194						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CACCCAAAAACCTCAAGGTAG	0.338																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(580-582)aaC>aaA		leucine-rich repeats and guanylate kinase domain containing							130.0	123.0	125.0					7																	133827909		2203	4299	6502	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133827909C>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.582C>A	7.37:g.133827909C>A	ENSP00000285928:p.Asn194Lys						p.N194K	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			4	651	+			194					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.582C>A	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	C	9.435	1.086617	0.20390	.	.	ENSG00000155530	ENST00000285928	T	0.26518	1.73	4.65	2.22	0.28083	.	0.146245	0.43260	N	0.000587	T	0.18800	0.0451	L	0.41961	1.31	0.36354	D	0.860282	B	0.23937	0.094	B	0.23716	0.048	T	0.10064	-1.0646	10	0.36615	T	0.2	-9.2337	6.0723	0.19895	0.0:0.0916:0.1636:0.7448	.	194	Q96M69	LRGUK_HUMAN	K	194	ENSP00000285928:N194K	ENSP00000285928:N194K	N	+	3	2	LRGUK	133478449	0.993000	0.37304	0.999000	0.59377	0.565000	0.35776	0.084000	0.14891	0.158000	0.19367	-0.471000	0.05019	AAC		0.338	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		5	103	1	0	0.000602214	0.184627	0.0007262	5	103				
ZNF230	7773	broad.mit.edu	37	19	44515531	44515531	+	Nonsense_Mutation	SNP	C	C	A	rs368656901		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr19:44515531C>A	ENST00000429154.2	+	5	1568	c.1340C>A	c.(1339-1341)tCa>tAa	p.S447*		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GGAGAAAACTCATCCAAATGT	0.388																																					GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(1339-1341)tCa>tAa		zinc finger protein 230							51.0	56.0	54.0					19																	44515531		2201	4299	6500	SO:0001587	stop_gained	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515531C>A	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.1340C>A	19.37:g.44515531C>A	ENSP00000409318:p.Ser447*						p.S447*	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN			5	1568	+		Prostate(69;0.0352)	447					O15322|Q504X7|Q86W84|Q9P1U6	Nonsense_Mutation	SNP	ENST00000429154.2	37	c.1340C>A	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	C	37	6.083038	0.97267	.	.	ENSG00000159882	ENST00000429154	.	.	.	2.55	2.55	0.30701	.	.	.	.	.	.	.	.	.	.	.	0.20703	N	0.999863	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	12.1799	0.54206	0.0:1.0:0.0:0.0	.	.	.	.	X	447	.	ENSP00000409318:S447X	S	+	2	0	ZNF230	49207371	0.000000	0.05858	0.002000	0.10522	0.527000	0.34593	0.846000	0.27682	1.399000	0.46721	0.205000	0.17691	TCA		0.388	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			4	75	1	0	0.150653	0.150653	0.171578	4	75				
KLHL2	11275	broad.mit.edu	37	4	166234520	166234520	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr4:166234520T>C	ENST00000226725.6	+	12	1727		c.e12+2		KLHL2_ENST00000538127.1_Splice_Site|KLHL2_ENST00000421009.2_Splice_Site|KLHL2_ENST00000506761.1_Splice_Site|KLHL2_ENST00000514860.1_Splice_Site|KLHL2_ENST00000509028.1_Splice_Site	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2						protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GTGGAGCAGGTACATGTGAAC	0.383																																						ENST00000226725.6																			0				endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14						c.e12+2		kelch-like family member 2							115.0	106.0	109.0					4																	166234520		2203	4300	6503	SO:0001630	splice_region_variant	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166234520T>C	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1468+2T>C	4.37:g.166234520T>C						KLHL2_ENST00000506761.1_Splice_Site|KLHL2_ENST00000421009.2_Splice_Site|KLHL2_ENST00000514860.1_Splice_Site|KLHL2_ENST00000509028.1_Splice_Site|KLHL2_ENST00000538127.1_Splice_Site		NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	12	1727	+	all_hematologic(180;0.221)							A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Splice_Site	SNP	ENST00000226725.6	37		CCDS34094.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.173371	0.38413	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHL2	166453970	1.000000	0.71417	0.970000	0.41538	0.048000	0.14542	6.302000	0.72788	2.281000	0.76405	0.533000	0.62120	.		0.383	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1		Intron	16	50	0	0	0	0.557998	0	16	50				
SLC25A46	91137	broad.mit.edu	37	5	110097209	110097209	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr5:110097209C>T	ENST00000355943.3	+	8	1110	c.984C>T	c.(982-984)gaC>gaT	p.D328D	SLC25A46_ENST00000509442.2_Silent_p.D237D|SLC25A46_ENST00000447245.2_Silent_p.D247D|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Silent_p.D182D|SLC25A46_ENST00000513807.1_Silent_p.D166D|SLC25A46_ENST00000509432.1_Silent_p.D115D	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	328					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TTTGTTCTGACGTTATACTTT	0.428																																						ENST00000355943.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(982-984)gaC>gaT		solute carrier family 25, member 46							288.0	278.0	281.0					5																	110097209		2202	4300	6502	SO:0001819	synonymous_variant	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110097209C>T	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.984C>T	5.37:g.110097209C>T						SLC25A46_ENST00000509432.1_Silent_p.D115D|SLC25A46_ENST00000504098.1_Silent_p.D182D|SLC25A46_ENST00000513807.1_Silent_p.D166D|SLC25A46_ENST00000509442.2_Silent_p.D237D|SLC25A46_ENST00000447245.2_Silent_p.D247D|SLC25A46_ENST00000513706.1_3'UTR	p.D328D	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	8	1110	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	328					A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Silent	SNP	ENST00000355943.3	37	c.984C>T	CCDS4100.1																																																																																				0.428	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		17	340	0	0	0	0.575678	0	17	340				
NPHS1	4868	broad.mit.edu	37	19	36334480	36334480	+	Missense_Mutation	SNP	C	C	T	rs386833910		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr19:36334480C>T	ENST00000378910.5	-	17	2227	c.2228G>A	c.(2227-2229)cGt>cAt	p.R743H	NPHS1_ENST00000353632.6_Missense_Mutation_p.R743H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	743	Ig-like C2-type 7.		R -> C (in NPHS1; does not affect protein expression on the cell surface). {ECO:0000269|PubMed:11317351, ECO:0000269|PubMed:20172850, ECO:0000269|PubMed:9915943}.		cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.R743L(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGAGGGCACGGATGGTGGG	0.612																																						ENST00000378910.5																			1	Substitution - Missense(1)	p.R743L(1)	lung(1)	NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2227-2229)cGt>cAt		nephrosis 1, congenital, Finnish type (nephrin)							102.0	87.0	92.0					19																	36334480		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36334480C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2228G>A	19.37:g.36334480C>T	ENSP00000368190:p.Arg743His					NPHS1_ENST00000353632.6_Missense_Mutation_p.R743H	p.R743H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		17	2227	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		743		R -> C (in NPHS1; does not affect protein expression on the cell surface).	Ig-like C2-type 7.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2228G>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647722	0.67358	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.13420	2.59;2.59	5.04	5.04	0.67666	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.387540	0.24947	N	0.034340	T	0.14313	0.0346	L	0.31476	0.935	0.47949	D	0.99955	D	0.55605	0.972	P	0.46237	0.508	T	0.01436	-1.1355	10	0.45353	T	0.12	-11.0318	14.3119	0.66422	0.0:1.0:0.0:0.0	.	743	O60500	NPHN_HUMAN	H	743	ENSP00000368190:R743H;ENSP00000343634:R743H	ENSP00000343634:R743H	R	-	2	0	NPHS1	41026320	0.996000	0.38824	0.996000	0.52242	0.956000	0.61745	2.509000	0.45459	2.532000	0.85374	0.456000	0.33151	CGT		0.612	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			5	117	0	0	0	0.184627	0	5	117				
HCG17	414778	broad.mit.edu	37	6	30227442	30227442	+	lincRNA	SNP	T	T	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr6:30227442T>G	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		CTGCTGCTCTTGGGGGCCCTG	0.706																																						ENST00000453558.1																			0																																																			0							g.chr6:30227442T>G	AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30227442T>G						HLA-L_ENST00000463348.1_RNA								0	126	-									RNA	SNP	ENST00000453558.1	37																																																																																						0.706	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012		5	29	0	0	0	0.217242	0	5	29				
LACC1	144811	broad.mit.edu	37	13	44464253	44464253	+	Silent	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr13:44464253T>C	ENST00000441843.1	+	6	1622	c.1137T>C	c.(1135-1137)atT>atC	p.I379I	LACC1_ENST00000325686.6_Silent_p.I379I	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	379																	TCCTAAGGATTCTTCTAGAAC	0.373																																						ENST00000441843.1																			0											c.(1135-1137)atT>atC		laccase (multicopper oxidoreductase) domain containing 1							75.0	72.0	73.0					13																	44464253		2203	4300	6503	SO:0001819	synonymous_variant	144811							g.chr13:44464253T>C	AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"""chromosome 13 open reading frame 31"""	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.1137T>C	13.37:g.44464253T>C						LACC1_ENST00000325686.6_Silent_p.I379I	p.I379I	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN			6	1622	+			379					A2A3Z6|Q8N8X5	Silent	SNP	ENST00000441843.1	37	c.1137T>C	CCDS9391.1																																																																																				0.373	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218		6	65	0	0	0	0.248553	0	6	65				
GPBP1L1	60313	broad.mit.edu	37	1	46105995	46105995	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr1:46105995A>T	ENST00000290795.3	-	7	1852	c.631T>A	c.(631-633)Tct>Act	p.S211T	GPBP1L1_ENST00000355105.3_Missense_Mutation_p.S211T			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	211					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AATGCAGCAGAGAAGGCAGCA	0.473																																						ENST00000355105.3																		GPBP1L1/MAST2_ENST00000361297(2)	0				breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21						c.(631-633)Tct>Act		GC-rich promoter binding protein 1-like 1							277.0	258.0	264.0					1																	46105995		2203	4300	6503	SO:0001583	missense	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46105995A>T		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.631T>A	1.37:g.46105995A>T	ENSP00000290795:p.Ser211Thr					GPBP1L1_ENST00000290795.3_Missense_Mutation_p.S211T	p.S211T	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN			8	1991	-	Acute lymphoblastic leukemia(166;0.155)		211					D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	37	c.631T>A	CCDS528.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.007845	0.93287	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.26957	1.7;1.7	5.85	5.85	0.93711	.	0.054402	0.85682	D	0.000000	T	0.47210	0.1433	M	0.64997	1.995	0.52501	D	0.999953	D	0.61697	0.99	D	0.72982	0.979	T	0.27157	-1.0082	10	0.22109	T	0.4	-30.7729	16.2421	0.82418	1.0:0.0:0.0:0.0	.	211	Q9HC44	GPBL1_HUMAN	T	211	ENSP00000290795:S211T;ENSP00000347224:S211T	ENSP00000290795:S211T	S	-	1	0	GPBP1L1	45878582	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.861000	0.69553	2.234000	0.73211	0.533000	0.62120	TCT		0.473	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		24	238	0	0	0	0.681144	0	24	238				
RPS6KA4	8986	broad.mit.edu	37	11	64137784	64137784	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr11:64137784C>T	ENST00000334205.4	+	15	1950	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.R381C|RPS6KA4_ENST00000528057.1_Missense_Mutation_p.R622C|MIR1237_ENST00000408346.1_RNA	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	629	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GTGCAAAATCCGCGAGGGGCG	0.657																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(1864-1866)Cgc>Tgc		ribosomal protein S6 kinase, 90kDa, polypeptide 4							46.0	55.0	52.0					11																	64137784		2201	4295	6496	SO:0001583	missense	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64137784C>T	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1885C>T	11.37:g.64137784C>T	ENSP00000333896:p.Arg629Cys					RPS6KA4_ENST00000294261.4_Missense_Mutation_p.R381C|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.R629C	p.R622C	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			15	1952	+			629			Protein kinase 2.		A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	c.1864C>T	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	c	18.06	3.539509	0.65085	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.66460	-0.21;-0.21;1.05;-0.21	4.3	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.067988	0.64402	D	0.000020	T	0.65668	0.2713	N	0.26130	0.795	0.35033	D	0.758964	D;D;B;D	0.76494	0.998;0.997;0.211;0.999	P;P;B;P	0.61275	0.649;0.828;0.117;0.886	T	0.71912	-0.4449	10	0.38643	T	0.18	.	9.6433	0.39853	0.2088:0.7912:0.0:0.0	.	381;622;629;623	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	C	622;629;381;607	ENSP00000435580:R622C;ENSP00000333896:R629C;ENSP00000294261:R381C;ENSP00000432945:R607C	ENSP00000294261:R381C	R	+	1	0	RPS6KA4	63894360	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.275000	0.51639	1.943000	0.56356	0.484000	0.47621	CGC		0.657	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		15	118	0	0	0	0.479597	0	15	118				
ADORA1	134	broad.mit.edu	37	1	203134969	203134969	+	Missense_Mutation	SNP	C	C	T	rs201646414		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr1:203134969C>T	ENST00000367236.4	+	3	1843	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	ADORA1_ENST00000337894.4_Missense_Mutation_p.R308C|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.R308C|ADORA1_ENST00000367235.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	308					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	TGACCATTTCCGCTGCCAGCC	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21675	0.0		0.0	False		,,,				2504	0.0					ENST00000367236.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(922-924)Cgc>Tgc		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						136.0	104.0	115.0					1																	203134969		2203	4300	6503	SO:0001583	missense	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203134969C>T	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.922C>T	1.37:g.203134969C>T	ENSP00000356205:p.Arg308Cys					ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.R308C|ADORA1_ENST00000309502.3_Missense_Mutation_p.R308C	p.R308C	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN			3	1843	+			308					A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	c.922C>T	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891127	0.33348	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.37411	1.2;1.2;1.2	5.37	5.37	0.77165	.	0.103731	0.64402	D	0.000003	T	0.17789	0.0427	N	0.10874	0.06	0.40892	D	0.984081	B;B;B	0.20671	0.008;0.047;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.10941	-1.0608	10	0.31617	T	0.26	-37.0266	7.0043	0.24828	0.0:0.789:0.0:0.211	.	341;240;308	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	C	308	ENSP00000308549:R308C;ENSP00000356205:R308C;ENSP00000338435:R308C	ENSP00000308549:R308C	R	+	1	0	ADORA1	201401592	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.303000	0.51858	2.505000	0.84491	0.655000	0.94253	CGC		0.582	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		13	77	0	0	0	0.479597	0	13	77				
FRG1	2483	broad.mit.edu	37	4	190862186	190862186	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr4:190862186A>T	ENST00000226798.4	+	1	244	c.22A>T	c.(22-24)Aag>Tag	p.K8*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	8	Lys-rich.				mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CTCCTACGTGAAGTCTACCAA	0.637											OREG0016457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(22-24)Aag>Tag		FSHD region gene 1							38.0	41.0	40.0					4																	190862186		2203	4300	6503	SO:0001587	stop_gained	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190862186A>T	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.22A>T	4.37:g.190862186A>T	ENSP00000226798:p.Lys8*		OREG0016457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2041	FRG1_ENST00000514482.1_3'UTR	p.K8*	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	1	244	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	8			Lys-rich.		A8K775	Nonsense_Mutation	SNP	ENST00000226798.4	37	c.22A>T	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	37	6.523272	0.97633	.	.	ENSG00000109536	ENST00000226798	.	.	.	4.01	4.01	0.46588	.	0.048664	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.2842	9.5632	0.39383	1.0:0.0:0.0:0.0	.	.	.	.	X	8	.	ENSP00000226798:K8X	K	+	1	0	FRG1	191099180	1.000000	0.71417	0.993000	0.49108	0.232000	0.25224	4.718000	0.61930	1.815000	0.52974	0.449000	0.29647	AAG		0.637	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		3	24	0	0	0	0.150653	0	3	24				
HFE2	148738	broad.mit.edu	37	1	145415767	145415767	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr1:145415767A>C	ENST00000336751.5	+	3	824	c.586A>C	c.(586-588)Aat>Cat	p.N196H	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.N83H|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	196					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTACTGGATAATGACTTCCT	0.587																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(586-588)Aat>Cat		hemochromatosis type 2 (juvenile)							100.0	103.0	102.0					1																	145415767		2203	4300	6503	SO:0001583	missense	148738				axon guidance	anchored to membrane		g.chr1:145415767A>C	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.586A>C	1.37:g.145415767A>C	ENSP00000337014:p.Asn196His					HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.N83H	p.N196H	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			3	824	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		196					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	c.586A>C	CCDS910.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419105	0.83559	.	.	ENSG00000168509	ENST00000357836;ENST00000336751	D;D	0.98958	-5.27;-5.27	4.32	4.32	0.51571	Repulsive guidance molecule, N-terminal (1);	0.057170	0.64402	D	0.000003	D	0.98817	0.9601	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99838	1.1059	10	0.87932	D	0	-20.9345	11.5018	0.50441	1.0:0.0:0.0:0.0	.	196	Q6ZVN8	RGMC_HUMAN	H	83;196	ENSP00000350495:N83H;ENSP00000337014:N196H	ENSP00000337014:N196H	N	+	1	0	HFE2	144127124	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	8.953000	0.93041	1.816000	0.52996	0.456000	0.33151	AAT		0.587	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		45	125	0	0	0	0.853193	0	45	125				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	13	0	0	0	0.150653	0	3	13				
PTPRO	5800	broad.mit.edu	37	12	15710429	15710429	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr12:15710429G>T	ENST00000281171.4	+	16	2929	c.2599G>T	c.(2599-2601)Gag>Tag	p.E867*	PTPRO_ENST00000544244.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000445537.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000348962.2_Nonsense_Mutation_p.E867*|PTPRO_ENST00000542557.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000442921.2_Nonsense_Mutation_p.E56*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	867					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGCATCCTTAGAGAGGGATGG	0.398																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(2599-2601)Gag>Tag		protein tyrosine phosphatase, receptor type, O							210.0	198.0	202.0					12																	15710429		2203	4300	6503	SO:0001587	stop_gained	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15710429G>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2599G>T	12.37:g.15710429G>T	ENSP00000281171:p.Glu867*					PTPRO_ENST00000442921.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000544244.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000445537.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000542557.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000348962.2_Nonsense_Mutation_p.E867*	p.E867*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			16	2929	+		Hepatocellular(102;0.244)	867					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Nonsense_Mutation	SNP	ENST00000281171.4	37	c.2599G>T	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	42	9.381745	0.99155	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	.	.	.	4.75	4.75	0.60458	.	0.000000	0.49305	D	0.000150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	17.931	0.88998	0.0:0.0:1.0:0.0	.	.	.	.	X	867;867;56;56;56;56	.	ENSP00000281171:E867X	E	+	1	0	PTPRO	15601696	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	9.257000	0.95545	2.480000	0.83734	0.467000	0.42956	GAG		0.398	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			21	49	1	0	4.96729e-08	0.575678	6.56964e-08	21	49				
PMM1	5372	broad.mit.edu	37	22	41980560	41980560	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr22:41980560A>C	ENST00000216259.7	-	3	337	c.253T>G	c.(253-255)Tat>Gat	p.Y85D	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	85					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CCGTGCTTATACTGCACCGTC	0.542																																						ENST00000216259.7																			0				NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						c.(253-255)Tat>Gat		phosphomannomutase 1							95.0	89.0	91.0					22																	41980560		2203	4300	6503	SO:0001583	missense	5372				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	g.chr22:41980560A>C		CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"""brain glucose-1,6-bisphosphatase"""	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.253T>G	22.37:g.41980560A>C	ENSP00000216259:p.Tyr85Asp					PMM1_ENST00000466645.1_5'UTR	p.Y85D	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN			3	337	-			85					A8K003|Q92586	Missense_Mutation	SNP	ENST00000216259.7	37	c.253T>G	CCDS14020.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.007858	0.75046	.	.	ENSG00000100417	ENST00000216259	D	0.98792	-5.14	4.76	4.76	0.60689	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.98166	0.9394	M	0.90650	3.135	0.80722	D	1	P	0.34780	0.468	B	0.32677	0.15	D	0.99129	1.0852	10	0.87932	D	0	-16.8555	14.2738	0.66167	1.0:0.0:0.0:0.0	.	85	Q92871	PMM1_HUMAN	D	85	ENSP00000216259:Y85D	ENSP00000216259:Y85D	Y	-	1	0	PMM1	40310506	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	9.116000	0.94341	1.778000	0.52293	0.455000	0.32223	TAT		0.542	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3	NM_002676		4	91	0	0	0	0.150653	0	4	91				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	108	0	0	0	0.150653	0	4	108				
SIPA1	6494	broad.mit.edu	37	11	65410052	65410052	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr11:65410052G>A	ENST00000394224.3	+	4	1222	c.926G>A	c.(925-927)cGc>cAc	p.R309H	SIPA1_ENST00000394227.3_Missense_Mutation_p.R309H|SIPA1_ENST00000534313.1_Missense_Mutation_p.R309H|SIPA1_ENST00000527525.1_Missense_Mutation_p.R309H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	309					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AGCTGCCTGCGCCTGGGCTCA	0.697																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(925-927)cGc>cAc		signal-induced proliferation-associated 1							9.0	11.0	11.0					11																	65410052		2188	4266	6454	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65410052G>A	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.926G>A	11.37:g.65410052G>A	ENSP00000377771:p.Arg309His					SIPA1_ENST00000394227.3_Missense_Mutation_p.R309H|SIPA1_ENST00000534313.1_Missense_Mutation_p.R309H|SIPA1_ENST00000527525.1_Missense_Mutation_p.R309H	p.R309H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			4	1222	+			309					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.926G>A	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274259	0.95459	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33	4.16	4.16	0.48862	.	0.230982	0.26286	U	0.025252	D	0.97244	0.9099	M	0.92077	3.27	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.97999	1.0359	10	0.87932	D	0	-22.21	14.3441	0.66649	0.0:0.0:1.0:0.0	.	309;309	F6RY50;Q96FS4	.;SIPA1_HUMAN	H	309	ENSP00000436269:R309H;ENSP00000433686:R309H;ENSP00000377771:R309H;ENSP00000377774:R309H	ENSP00000377771:R309H	R	+	2	0	SIPA1	65166628	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.441000	0.97557	2.323000	0.78572	0.455000	0.32223	CGC		0.697	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		4	17	0	0	0	0.150653	0	4	17				
MYH6	4624	broad.mit.edu	37	14	23866021	23866021	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr14:23866021C>T	ENST00000356287.3	-	18	2203	c.2174G>A	c.(2173-2175)cGc>cAc	p.R725H	MYH6_ENST00000405093.3_Missense_Mutation_p.R725H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	725	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTTCAGGATGCGATACCTGAG	0.547																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(2173-2175)cGc>cAc		myosin, heavy chain 6, cardiac muscle, alpha							100.0	79.0	86.0					14																	23866021		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23866021C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2174G>A	14.37:g.23866021C>T	ENSP00000348634:p.Arg725His					MYH6_ENST00000356287.3_Missense_Mutation_p.R725H	p.R725H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	19	2244	-	all_cancers(95;2.54e-05)		725			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2174G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	19.63	3.863617	0.71949	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.87966	-2.32;-2.32	4.46	4.46	0.54185	Myosin head, motor domain (2);	.	.	.	.	D	0.92808	0.7713	M	0.81497	2.545	0.51012	D	0.999908	D	0.89917	1.0	D	0.77004	0.989	D	0.93259	0.6641	9	0.59425	D	0.04	.	13.0136	0.58745	0.0:0.9183:0.0:0.0817	.	725	P13533	MYH6_HUMAN	H	725	ENSP00000386041:R725H;ENSP00000348634:R725H	ENSP00000348634:R725H	R	-	2	0	MYH6	22935861	0.295000	0.24389	1.000000	0.80357	0.896000	0.52359	1.946000	0.40283	2.208000	0.71279	0.650000	0.86243	CGC		0.547	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			5	70	0	0	0	0.184627	0	5	70				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	13	1	0	0.00024832	0.150653	0.000308519	3	13				
COL7A1	1294	broad.mit.edu	37	3	48608571	48608571	+	Missense_Mutation	SNP	G	G	A	rs150193295		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr3:48608571G>A	ENST00000328333.8	-	93	7234	c.7127C>T	c.(7126-7128)cCg>cTg	p.P2376L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2344L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2376	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGGAGCCCGGGACCCCGAC	0.642																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(7126-7128)cCg>cTg		collagen, type VII, alpha 1		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	36.0	45.0	42.0		7127	0.4	0.5	3	dbSNP_134	42	0,8600		0,0,4300	no	missense	COL7A1	NM_000094.3	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	2376/2945	48608571	1,13005	2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48608571G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7127C>T	3.37:g.48608571G>A	ENSP00000332371:p.Pro2376Leu					COL7A1_ENST00000454817.1_Missense_Mutation_p.P2344L	p.P2376L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	93	7234	-			2376			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.7127C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	1.588	-0.529781	0.04112	2.27E-4	0.0	ENSG00000114270	ENST00000328333;ENST00000454817;ENST00000422991	D;D;D	0.96685	-3.87;-3.87;-4.09	4.39	0.374	0.16183	.	0.764980	0.11044	N	0.605811	D	0.93074	0.7795	M	0.70108	2.13	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.83644	0.0152	10	0.38643	T	0.18	.	0.8275	0.01124	0.3227:0.0985:0.1839:0.3948	.	2376	Q02388	CO7A1_HUMAN	L	2376;2344;41	ENSP00000332371:P2376L;ENSP00000412569:P2344L;ENSP00000391608:P41L	ENSP00000332371:P2376L	P	-	2	0	COL7A1	48583575	0.905000	0.30787	0.476000	0.27291	0.004000	0.04260	0.040000	0.13905	0.303000	0.22785	-1.475000	0.01000	CCG		0.642	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		4	95	0	0	0	0.150653	0	4	95				
ADAMTS5	11096	broad.mit.edu	37	21	28306855	28306855	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr21:28306855G>A	ENST00000284987.5	-	4	1740	c.1619C>T	c.(1618-1620)aCg>aTg	p.T540M	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	540	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCCACAAGGCGTCCCTTCCAC	0.522																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(1618-1620)aCg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 5							98.0	89.0	92.0					21																	28306855		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28306855G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1619C>T	21.37:g.28306855G>A	ENSP00000284987:p.Thr540Met					AP001601.2_ENST00000426771.1_RNA	p.T540M	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			4	1740	-			540			Disintegrin.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.1619C>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648468	0.87958	.	.	ENSG00000154736	ENST00000284987	T	0.72394	-0.65	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.84714	0.5533	M	0.90977	3.165	0.80722	D	1	D	0.69078	0.997	P	0.53102	0.718	D	0.88134	0.2840	10	0.87932	D	0	.	19.7912	0.96458	0.0:0.0:1.0:0.0	.	540	Q9UNA0	ATS5_HUMAN	M	540	ENSP00000284987:T540M	ENSP00000284987:T540M	T	-	2	0	ADAMTS5	27228726	1.000000	0.71417	0.750000	0.31169	0.728000	0.41692	9.405000	0.97313	2.694000	0.91930	0.557000	0.71058	ACG		0.522	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			14	74	0	0	0	0.500413	0	14	74				
MRGPRX2	117194	broad.mit.edu	37	11	19077545	19077545	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr11:19077545G>C	ENST00000329773.2	-	2	492	c.405C>G	c.(403-405)atC>atG	p.I135M		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	135					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGCGATACCAGATGGGCCACA	0.617																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(403-405)atC>atG		MAS-related GPR, member X2							69.0	66.0	67.0					11																	19077545		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077545G>C		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.405C>G	11.37:g.19077545G>C	ENSP00000333800:p.Ile135Met						p.I135M	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	492	-			135					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.405C>G	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	17.94	3.510886	0.64522	.	.	ENSG00000183695	ENST00000329773	T	0.37058	1.22	5.11	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.270264	0.32258	N	0.006348	T	0.46034	0.1372	M	0.69523	2.12	0.25384	N	0.988589	D	0.61697	0.99	P	0.60286	0.872	T	0.37641	-0.9697	10	0.62326	D	0.03	.	2.1159	0.03713	0.171:0.1554:0.5134:0.1602	.	135	Q96LB1	MRGX2_HUMAN	M	135	ENSP00000333800:I135M	ENSP00000333800:I135M	I	-	3	3	MRGPRX2	19034121	1.000000	0.71417	0.983000	0.44433	0.984000	0.73092	2.115000	0.41921	0.404000	0.25506	0.655000	0.94253	ATC		0.617	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		7	108	0	0	0	0.278610	0	7	108				
TCF4	6925	broad.mit.edu	37	18	52901781	52901781	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr18:52901781C>T	ENST00000356073.4	-	16	2095	c.1484G>A	c.(1483-1485)aGa>aAa	p.R495K	TCF4_ENST00000566279.1_Missense_Mutation_p.R435K|TCF4_ENST00000565018.2_Missense_Mutation_p.R495K|TCF4_ENST00000567880.1_Missense_Mutation_p.R435K|TCF4_ENST00000354452.3_Missense_Mutation_p.R495K|TCF4_ENST00000561831.3_Missense_Mutation_p.R335K|TCF4_ENST00000564403.2_Missense_Mutation_p.R501K|TCF4_ENST00000537856.3_Missense_Mutation_p.R365K|TCF4_ENST00000568673.1_Missense_Mutation_p.R471K|TCF4_ENST00000561992.1_Missense_Mutation_p.R365K|TCF4_ENST00000537578.1_Missense_Mutation_p.R471K|TCF4_ENST00000570287.2_Missense_Mutation_p.R335K|TCF4_ENST00000564228.1_Missense_Mutation_p.R424K|TCF4_ENST00000570177.2_Missense_Mutation_p.R365K|TCF4_ENST00000540999.1_Missense_Mutation_p.R471K|TCF4_ENST00000457482.3_Missense_Mutation_p.R335K|TCF4_ENST00000568740.1_Missense_Mutation_p.R470K|TCF4_ENST00000566286.1_Missense_Mutation_p.R492K|TCF4_ENST00000543082.1_Missense_Mutation_p.R453K|TCF4_ENST00000544241.2_Missense_Mutation_p.R424K|TCF4_ENST00000564999.1_Missense_Mutation_p.R495K|TCF4_ENST00000398339.1_Missense_Mutation_p.R597K	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	495					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CAACCTACCTCTGTAAGGGTC	0.557											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000354452.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(1483-1485)aGa>aAa		transcription factor 4							92.0	90.0	91.0					18																	52901781		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52901781C>T	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1484G>A	18.37:g.52901781C>T	ENSP00000348374:p.Arg495Lys		OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	988	TCF4_ENST00000398339.1_Missense_Mutation_p.R597K|TCF4_ENST00000540999.1_Missense_Mutation_p.R471K|TCF4_ENST00000567880.1_Missense_Mutation_p.R435K|TCF4_ENST00000566279.1_Missense_Mutation_p.R435K|TCF4_ENST00000565018.2_Missense_Mutation_p.R495K|TCF4_ENST00000561992.1_Missense_Mutation_p.R365K|TCF4_ENST00000568740.1_Missense_Mutation_p.R470K|TCF4_ENST00000543082.1_Missense_Mutation_p.R453K|TCF4_ENST00000568673.1_Missense_Mutation_p.R471K|TCF4_ENST00000561831.3_Missense_Mutation_p.R335K|TCF4_ENST00000544241.2_Missense_Mutation_p.R424K|TCF4_ENST00000356073.4_Missense_Mutation_p.R495K|TCF4_ENST00000564403.2_Missense_Mutation_p.R501K|TCF4_ENST00000564228.1_Missense_Mutation_p.R424K|TCF4_ENST00000537578.1_Missense_Mutation_p.R471K|TCF4_ENST00000566286.1_Missense_Mutation_p.R492K|TCF4_ENST00000457482.3_Missense_Mutation_p.R335K|TCF4_ENST00000564999.1_Missense_Mutation_p.R495K|TCF4_ENST00000570287.2_Missense_Mutation_p.R335K|TCF4_ENST00000537856.3_Missense_Mutation_p.R365K|TCF4_ENST00000570177.2_Missense_Mutation_p.R365K	p.R495K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	16	2095	-			495					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1484G>A	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525665	0.64860	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.17854	2.5;2.25;2.51;2.5;2.51;2.52;2.51;2.26;2.48	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.40145	0.1105	M	0.70595	2.14	0.58432	D	0.999999	P;D;P;B;P;P;P;P;D	0.69078	0.945;0.997;0.486;0.302;0.841;0.895;0.945;0.902;0.967	P;P;B;B;P;P;P;P;P	0.61592	0.622;0.891;0.431;0.117;0.745;0.469;0.622;0.87;0.64	T	0.05321	-1.0892	10	0.46703	T	0.11	-14.2789	18.543	0.91037	0.0:1.0:0.0:0.0	.	471;495;335;597;495;453;424;335;492	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	K	495;335;495;453;471;471;424;365;597	ENSP00000346440:R495K;ENSP00000409447:R335K;ENSP00000348374:R495K;ENSP00000439656:R453K;ENSP00000445202:R471K;ENSP00000440731:R471K;ENSP00000441562:R424K;ENSP00000439827:R365K;ENSP00000381382:R597K	ENSP00000346440:R495K	R	-	2	0	TCF4	51052779	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.464000	0.73534	2.758000	0.94735	0.563000	0.77884	AGA		0.557	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		25	77	0	0	0	0.654019	0	25	77				
CHERP	10523	broad.mit.edu	37	19	16643484	16643484	+	Missense_Mutation	SNP	C	C	T	rs368216200		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr19:16643484C>T	ENST00000198939.6	-	5	635	c.599G>A	c.(598-600)cGc>cAc	p.R200H	CHERP_ENST00000546361.2_Missense_Mutation_p.R200H|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						AGCCGTGATGCGGTTCCGGAG	0.632																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(598-600)cGc>cAc		calcium homeostasis endoplasmic reticulum protein		C	HIS/ARG	0,4352		0,0,2176	59.0	70.0	67.0		599	4.9	1.0	19		67	1,8557		0,1,4278	no	missense	CHERP	NM_006387.5	29	0,1,6454	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	200/917	16643484	1,12909	2176	4279	6455	SO:0001583	missense	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16643484C>T	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.599G>A	19.37:g.16643484C>T	ENSP00000198939:p.Arg200His					CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R200H	p.R200H	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			5	750	-			200			CID.			Missense_Mutation	SNP	ENST00000198939.6	37	c.599G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.428493	0.96131	0.0	1.17E-4	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.44083	0.93;0.93	4.94	4.94	0.65067	ENTH/VHS (1);RNA polymerase II, large subunit, CTD (2);	.	.	.	.	T	0.60392	0.2265	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.62779	-0.6782	9	0.59425	D	0.04	-22.2596	17.136	0.86739	0.0:1.0:0.0:0.0	.	200	Q8IWX8	CHERP_HUMAN	H	200	ENSP00000439856:R200H;ENSP00000198939:R200H	ENSP00000198939:R200H	R	-	2	0	CHERP	16504484	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.465000	0.80898	2.286000	0.76751	0.491000	0.48974	CGC		0.632	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		4	69	0	0	0	0.150653	0	4	69				
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	lincRNA	INS	-	-	TT			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:143210193_143210194insTT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317																																						ENST00000412204.2																			0																																																			0							g.chr1:143210193_143210194insTT																													1.37:g.143210198_143210199dupTT						RP11-782C8.1_ENST00000438000.1_lincRNA								0	876_877	-									RNA	INS	ENST00000412204.2	37																																																																																						0.317	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			7	86						7	86	---	---	---	---
GGCX	2677	broad.mit.edu	37	2	85777103	85777106	+	Frame_Shift_Del	DEL	GAAT	GAAT	-			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:85777103_85777106delGAAT	ENST00000233838.4	-	15	2308_2311	c.2228_2231delATTC	c.(2227-2232)cattctfs	p.HS743fs	GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Frame_Shift_Del_p.HS686fs	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	743					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	AGGAGGATTAGAATGTGAAGAATC	0.515																																						ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(2227-2232)ctfs		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)																																			SO:0001589	frameshift_variant	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85777103_85777106delGAAT		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.2228_2231delATTC	2.37:g.85777103_85777106delGAAT	ENSP00000233838:p.His743fs					GGCX_ENST00000430215.3_Frame_Shift_Del_p.HS686fs	p.HS743fs	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN			15	2308_2311	-			743					B4DMC5|E9PEE1|Q14415|Q6GU45	Frame_Shift_Del	DEL	ENST00000233838.4	37	c.2228_2231delATTC	CCDS1978.1																																																																																				0.515	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		25	61						25	61	---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91226267	91226269	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr6:91226267_91226269delGTT	ENST00000369329.3	-	17	1933_1935	c.1772_1774delAAC	c.(1771-1776)caacta>cta	p.Q591del	MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369320.1_In_Frame_Del_p.Q245del|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369332.3_In_Frame_Del_p.Q564del|MAP3K7_ENST00000369327.3_3'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	591					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATGACCTCTAGTTGTTTTTTGCA	0.374																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(1771-1776)cta>c		mitogen-activated protein kinase kinase kinase 7																																				SO:0001651	inframe_deletion	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91226267_91226269delGTT	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1772_1774delAAC	6.37:g.91226270_91226272delGTT	ENSP00000358335:p.Gln591del					MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369320.1_In_Frame_Del_p.QL245del|MAP3K7_ENST00000369332.3_In_Frame_Del_p.QL564del|MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000369325.3_3'UTR	p.QL591del	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	17	1933_1935	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	591					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	In_Frame_Del	DEL	ENST00000369329.3	37	c.1772_1774delAAC	CCDS5028.1																																																																																				0.374	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		18	107						18	107	---	---	---	---
SNX13	23161	broad.mit.edu	37	7	17915291	17915291	+	Splice_Site	DEL	C	C	-			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr7:17915291delC	ENST00000409389.1	-	6	735		c.e6+1		SNX13_ENST00000428135.3_Splice_Site			Q9Y5W8	SNX13_HUMAN	sorting nexin 13						intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AAAGATATTACCTTTCACTTG	0.313																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.e6+1		sorting nexin 13							145.0	127.0	133.0					7																	17915291		1817	4072	5889	SO:0001630	splice_region_variant	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17915291delC	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.562+1G>-	7.37:g.17915291delC						SNX13_ENST00000428135.3_Splice_Site				Q9Y5W8	SNX13_HUMAN			6	735	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)							B2RCI9|O94821|Q8WVZ2|Q8WXH8	Splice_Site	DEL	ENST00000409389.1	37																																																																																						0.313	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132	Intron	5	9						5	9	---	---	---	---
BLK	640	broad.mit.edu	37	8	11421593	11421607	+	In_Frame_Del	DEL	GCGGCAGTACGAGCT	GCGGCAGTACGAGCT	-			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr8:11421593_11421607delGCGGCAGTACGAGCT	ENST00000259089.4	+	13	2086_2100	c.1494_1508delGCGGCAGTACGAGCT	c.(1492-1509)gagcggcagtacgagctg>gag	p.RQYEL499del	BLK_ENST00000529894.1_In_Frame_Del_p.RQYEL428del	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	499					B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CGGCCACCGAGCGGCAGTACGAGCTGCAGCCCTAG	0.735																																						ENST00000259089.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27						c.(1492-1509)gag>ga		B lymphoid tyrosine kinase																																				SO:0001651	inframe_deletion	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11421593_11421607delGCGGCAGTACGAGCT	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.1494_1508delGCGGCAGTACGAGCT	8.37:g.11421593_11421607delGCGGCAGTACGAGCT	ENSP00000259089:p.Arg499_Leu503del					BLK_ENST00000529894.1_In_Frame_Del_p.ERQYEL427del	p.ERQYEL498del	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	13	2086_2100	+			498					Q16291|Q96IN1	In_Frame_Del	DEL	ENST00000259089.4	37	c.1494_1508delGCGGCAGTACGAGCT	CCDS5982.1																																																																																				0.735	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			4	9						4	9	---	---	---	---
LMAN1L	79748	broad.mit.edu	37	15	75105252	75105253	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr15:75105252_75105253delCC	ENST00000309664.5	+	1	196_197	c.57_58delCC	c.(55-60)gaccccfs	p.P20fs	LMAN1L_ENST00000379709.3_Frame_Shift_Del_p.P20fs	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	20						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCTCCTGGACCCCCACAGCCC	0.609																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(55-60)gaccfs		lectin, mannose-binding, 1 like																																				SO:0001589	frameshift_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75105252_75105253delCC	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.57_58delCC	15.37:g.75105254_75105255delCC	ENSP00000310431:p.Pro20fs					LMAN1L_ENST00000379709.3_Frame_Shift_Del_p.DP19fs	p.DP19fs	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			1	196_197	+			19					Q6UWN2	Frame_Shift_Del	DEL	ENST00000309664.5	37	c.57_58delCC	CCDS10270.1																																																																																				0.609	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			34	133						34	133	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3778439	3778451	+	Frame_Shift_Del	DEL	TTGCTGCTGCTGC	TTGCTGCTGCTGC	-	rs62636220|rs538605698|rs570415368	byFrequency	TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr16:3778439_3778451delTTGCTGCTGCTGC	ENST00000262367.5	-	31	7406_7418	c.6597_6609delGCAGCAGCAGCAA	c.(6595-6609)cagcagcagcagcaafs	p.QQQQQ2209fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.QQQQQ2171fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2209	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		gctgctgctgttgctgctgctgctgcagcagct	0.606			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(6595-6609)cafs		CREB binding protein																																				SO:0001589	frameshift_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3778439_3778451delTTGCTGCTGCTGC	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6597_6609delGCAGCAGCAGCAA	16.37:g.3778439_3778451delTTGCTGCTGCTGC	ENSP00000262367:p.Gln2209fs					CREBBP_ENST00000382070.3_Frame_Shift_Del_p.QQQQQ2171fs	p.QQQQQ2209fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	7406_7418	-		Ovarian(90;0.0266)	2209			Poly-Gln.		D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Del	DEL	ENST00000262367.5	37	c.6597_6609delGCAGCAGCAGCAA	CCDS10509.1																																																																																				0.606	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		17	36						17	36	---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91226267	91226269	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr6:91226267_91226269delGTT	ENST00000369329.3	-	17	1933_1935	c.1772_1774delAAC	c.(1771-1776)caacta>cta	p.Q591del	MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369320.1_In_Frame_Del_p.Q245del|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369332.3_In_Frame_Del_p.Q564del|MAP3K7_ENST00000369327.3_3'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	591					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATGACCTCTAGTTGTTTTTTGCA	0.374																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(1771-1776)cta>c		mitogen-activated protein kinase kinase kinase 7																																				SO:0001651	inframe_deletion	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91226267_91226269delGTT	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1772_1774delAAC	6.37:g.91226270_91226272delGTT	ENSP00000358335:p.Gln591del					MAP3K7_ENST00000369320.1_In_Frame_Del_p.QL245del|MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369332.3_In_Frame_Del_p.QL564del|MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000479630.1_5'UTR	p.QL591del	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	17	1933_1935	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	591					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	In_Frame_Del	DEL	ENST00000369329.3	37	c.1772_1774delAAC	CCDS5028.1																																																																																				0.374	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		18	107						18	107	---	---	---	---
SNX13	23161	broad.mit.edu	37	7	17915291	17915291	+	Splice_Site	DEL	C	C	-			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr7:17915291delC	ENST00000409389.1	-	6	735		c.e6+1		SNX13_ENST00000428135.3_Splice_Site			Q9Y5W8	SNX13_HUMAN	sorting nexin 13						intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AAAGATATTACCTTTCACTTG	0.313																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.e6+1		sorting nexin 13							145.0	127.0	133.0					7																	17915291		1817	4072	5889	SO:0001630	splice_region_variant	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17915291delC	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.562+1G>-	7.37:g.17915291delC						SNX13_ENST00000428135.3_Splice_Site				Q9Y5W8	SNX13_HUMAN			6	735	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)							B2RCI9|O94821|Q8WVZ2|Q8WXH8	Splice_Site	DEL	ENST00000409389.1	37																																																																																						0.313	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132	Intron	5	9						5	9	---	---	---	---
